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1. UDP-glucuronosyltransferase UGT1A7 genetic polymorphisms in hepatocellular carcinoma: a differential impact according to seropositivity of HBV or HCV markers?

Author: Mulot C, Bodin L, C��née S, N'Koutchou G, Loriot MA, Stücker I, Gelu-Simeon M, Pelletier L, Bronowicki JP, Degos F, Beaune P, Laurent-Puig P, Hémon D, Trinchet JC, and Pelletier G
Subjects: Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282
Abstract: Abstract Background: We conducted a case-control study to evaluate the role of UDP-glucuronosyltransferase 1A7 (UGT1A7) polymorphisms in the onset of hepatocellular carcinoma (HCC). Methods: The study included 165 patients with HCC, 134 with cirrhosis and 142 controls without liver disease, matched for age and hospital. All were men younger than 75 years. HCC and cirrhosis patients were stratified according to time since cirrhosis diagnosis. Results: We found a positive association between the UGT1A7*3/*3 genotype and HCC when the comparison was restricted to patients whose disease was of viral origin [OR = 3.4 (0.3–45)] but a negative association when it included only alcoholic patients [OR = 0.1 (0.02–0.6), p = 0.01]. Conclusion: Our study shows that UGT1A7 may play a role in hepatocellular carcinogenesis and that this role may differ according to the primary cause of the cirrhosis.
Published: 2007
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2. Adjuvant FOLFOX +/− cetuximab in fullRAS andBRAF wildtype stage III colon cancer patients

Author: Taieb, J., Balogoun, R., Le Malicot, K., Tabernero, J., Mini, E., Folprecht, G., Van Laethem, J.-L., Emile, J.-F., Mulot, C., Fratté, S., Levaché, C.-B., Saban-Roche, L., Thaler, J., Petersen, L.N., Bridgewater, J., Perkins, G., Lepage, C., Van Cutsem, E., Zaanan, A., and Laurent-Puig, P.
Published: 2017
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3. A genome-wide gene-environment interaction study of breast cancer risk for women of European ancestry

Author: Middha, PK, Wang, X, Behrens, S, Bolla, MK, Wang, Q, Dennis, J, Michailidou, K, Ahearn, TU, Andrulis, IL, Anton-Culver, H, Arndt, V, Aronson, KJ, Auer, PL, Augustinsson, A, Baert, T, Freeman, LEB, Becher, H, Beckmann, MW, Benitez, J, Bojesen, SE, Brauch, H, Brenner, H, Brooks-Wilson, A, Campa, D, Canzian, F, Carracedo, A, Castelao, JE, Chanock, SJ, Chenevix-Trench, G, Cordina-Duverger, E, Couch, FJ, Cox, A, Cross, SS, Czene, K, Dossus, L, Dugue, P-A, Eliassen, AH, Eriksson, M, Evans, DG, Fasching, PA, Figueroa, J, Fletcher, O, Flyger, H, Gabrielson, M, Gago-Dominguez, M, Giles, GG, Gonzalez-Neira, A, Grassmann, F, Grundy, A, Guenel, P, Haiman, CA, Hakansson, N, Hall, P, Hamann, U, Hankinson, SE, Harkness, EF, Holleczek, B, Hoppe, R, Hopper, JL, Houlston, RS, Howell, A, Hunter, DJ, Ingvar, C, Isaksson, K, Jernstroem, H, John, EM, Jones, ME, Kaaks, R, Keeman, R, Kitahara, CM, Ko, Y-D, Koutros, S, Kurian, AW, Lacey, JV, Lambrechts, D, Larson, NL, Larsson, S, Le Marchand, L, Lejbkowicz, F, Li, S, Linet, M, Lissowska, J, Martinez, ME, Maurer, T, Mulligan, AM, Mulot, C, Murphy, RA, Newman, WG, Nielsen, SF, Nordestgaard, BG, Norman, A, O'Brien, KM, Olson, JE, Patel, AV, Prentice, R, Rees-Punia, E, Rennert, G, Rhenius, V, Ruddy, KJ, Sandler, DP, Scott, CG, Shah, MT, Shu, X-O, Smeets, A, Southey, MC, Stone, J, Tamimi, RM, Taylor, JA, Teras, LR, Tomczyk, K, Troester, MA, Truong, T, Vachon, CM, Wang, SS, Weinberg, CR, Wildiers, H, Willett, W, Winham, SJ, Wolk, A, Yang, X, Zamora, MP, Zheng, W, Ziogas, A, Dunning, AM, Pharoah, PDP, Garcia-Closas, M, Schmidt, MK, Kraft, P, Milne, RL, Lindstroem, S, Easton, DF, Chang-Claude, J, Middha, PK, Wang, X, Behrens, S, Bolla, MK, Wang, Q, Dennis, J, Michailidou, K, Ahearn, TU, Andrulis, IL, Anton-Culver, H, Arndt, V, Aronson, KJ, Auer, PL, Augustinsson, A, Baert, T, Freeman, LEB, Becher, H, Beckmann, MW, Benitez, J, Bojesen, SE, Brauch, H, Brenner, H, Brooks-Wilson, A, Campa, D, Canzian, F, Carracedo, A, Castelao, JE, Chanock, SJ, Chenevix-Trench, G, Cordina-Duverger, E, Couch, FJ, Cox, A, Cross, SS, Czene, K, Dossus, L, Dugue, P-A, Eliassen, AH, Eriksson, M, Evans, DG, Fasching, PA, Figueroa, J, Fletcher, O, Flyger, H, Gabrielson, M, Gago-Dominguez, M, Giles, GG, Gonzalez-Neira, A, Grassmann, F, Grundy, A, Guenel, P, Haiman, CA, Hakansson, N, Hall, P, Hamann, U, Hankinson, SE, Harkness, EF, Holleczek, B, Hoppe, R, Hopper, JL, Houlston, RS, Howell, A, Hunter, DJ, Ingvar, C, Isaksson, K, Jernstroem, H, John, EM, Jones, ME, Kaaks, R, Keeman, R, Kitahara, CM, Ko, Y-D, Koutros, S, Kurian, AW, Lacey, JV, Lambrechts, D, Larson, NL, Larsson, S, Le Marchand, L, Lejbkowicz, F, Li, S, Linet, M, Lissowska, J, Martinez, ME, Maurer, T, Mulligan, AM, Mulot, C, Murphy, RA, Newman, WG, Nielsen, SF, Nordestgaard, BG, Norman, A, O'Brien, KM, Olson, JE, Patel, AV, Prentice, R, Rees-Punia, E, Rennert, G, Rhenius, V, Ruddy, KJ, Sandler, DP, Scott, CG, Shah, MT, Shu, X-O, Smeets, A, Southey, MC, Stone, J, Tamimi, RM, Taylor, JA, Teras, LR, Tomczyk, K, Troester, MA, Truong, T, Vachon, CM, Wang, SS, Weinberg, CR, Wildiers, H, Willett, W, Winham, SJ, Wolk, A, Yang, X, Zamora, MP, Zheng, W, Ziogas, A, Dunning, AM, Pharoah, PDP, Garcia-Closas, M, Schmidt, MK, Kraft, P, Milne, RL, Lindstroem, S, Easton, DF, and Chang-Claude, J
Abstract: BACKGROUND: Genome-wide studies of gene-environment interactions (G×E) may identify variants associated with disease risk in conjunction with lifestyle/environmental exposures. We conducted a genome-wide G×E analysis of ~ 7.6 million common variants and seven lifestyle/environmental risk factors for breast cancer risk overall and for estrogen receptor positive (ER +) breast cancer. METHODS: Analyses were conducted using 72,285 breast cancer cases and 80,354 controls of European ancestry from the Breast Cancer Association Consortium. Gene-environment interactions were evaluated using standard unconditional logistic regression models and likelihood ratio tests for breast cancer risk overall and for ER + breast cancer. Bayesian False Discovery Probability was employed to assess the noteworthiness of each SNP-risk factor pairs. RESULTS: Assuming a 1 × 10-5 prior probability of a true association for each SNP-risk factor pairs and a Bayesian False Discovery Probability < 15%, we identified two independent SNP-risk factor pairs: rs80018847(9p13)-LINGO2 and adult height in association with overall breast cancer risk (ORint = 0.94, 95% CI 0.92-0.96), and rs4770552(13q12)-SPATA13 and age at menarche for ER + breast cancer risk (ORint = 0.91, 95% CI 0.88-0.94). CONCLUSIONS: Overall, the contribution of G×E interactions to the heritability of breast cancer is very small. At the population level, multiplicative G×E interactions do not make an important contribution to risk prediction in breast cancer.
Published: 2023

4. 321P A comprehensive predicting model of recurrence in stage III colon cancer from PETACC-8 trial

Author: Gallois, C., primary, Sroussi, M., additional, Mouillet-Richard, S., additional, Mulot, C., additional, Dourthe, L.M., additional, Mazard, T., additional, Jary, M., additional, de la Fouchardiere, C., additional, Lecaille, C., additional, Lahlou, W., additional, Tabernero, J., additional, van Laethem, J-L., additional, Lepage, C., additional, Emile, J.F., additional, Taieb, J., additional, de Reynies, A., additional, and Laurent-Puig, P., additional
Published: 2022
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5. 594P Genetic and transcriptomic analyses of Early-Onset Colon Cancer (EOCC): A post-hoc analysis of 2973 patients (pts) from two adjuvant randomized trials

Author: Gandini, A., Gallois, C., Blons, H., Mulot, C., Agueeff, N., Lepage, C., Guimbaud, R., Mineur, L., Desrame, J., Chibaudel, B., de Reynies, A., André, T., Laurent-Puig, P., and Taieb, J.
Published: 2024
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6. 562P Acquired genomic alterations on first-line chemotherapy (CT) + cetuximab in advanced colorectal cancer (mCRC): Circulating tumor (ct)DNA analysis of the randomized phase II trial TIME-PRODIGE-28

Author: Boige, V., Bouche, O., Mulot, C., Evesque, L., Ben Abdelghani, M., Phelip, J.M., Mineur, L., Galais, M.P., Villing, A-L., Hautefeuille, V., Fouchardiere, C. de la, Genet, D., Lassoued, S., Carnot, A., Mitry, E., Jacquot, S., Serazin, D., Brument, E., Winter, A., and Blons, H.
Published: 2024
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7. Genome-wide interaction analysis of menopausal hormone therapy use and breast cancer risk among 62,370 women.

Author: Wang, X, Kapoor, PM, Auer, PL, Dennis, J, Dunning, AM, Wang, Q, Lush, M, Michailidou, K, Bolla, MK, Aronson, KJ, Murphy, RA, Brooks-Wilson, A, Lee, DG, Cordina-Duverger, E, Guénel, P, Truong, T, Mulot, C, Teras, LR, Patel, AV, Dossus, L, Kaaks, R, Hoppe, R, Lo, W-Y, Brüning, T, Hamann, U, Czene, K, Gabrielson, M, Hall, P, Eriksson, M, Jung, A, Becher, H, Couch, FJ, Larson, NL, Olson, JE, Ruddy, KJ, Giles, GG, MacInnis, RJ, Southey, MC, Le Marchand, L, Wilkens, LR, Haiman, CA, Olsson, H, Augustinsson, A, Krüger, U, Wagner, P, Scott, C, Winham, SJ, Vachon, CM, Perou, CM, Olshan, AF, Troester, MA, Hunter, DJ, Eliassen, HA, Tamimi, RM, Brantley, K, Andrulis, IL, Figueroa, J, Chanock, SJ, Ahearn, TU, García-Closas, M, Evans, GD, Newman, WG, van Veen, EM, Howell, A, Wolk, A, Håkansson, N, Anton-Culver, H, Ziogas, A, Jones, ME, Orr, N, Schoemaker, MJ, Swerdlow, AJ, Kitahara, CM, Linet, M, Prentice, RL, Easton, DF, Milne, RL, Kraft, P, Chang-Claude, J, Lindström, S, Wang, X, Kapoor, PM, Auer, PL, Dennis, J, Dunning, AM, Wang, Q, Lush, M, Michailidou, K, Bolla, MK, Aronson, KJ, Murphy, RA, Brooks-Wilson, A, Lee, DG, Cordina-Duverger, E, Guénel, P, Truong, T, Mulot, C, Teras, LR, Patel, AV, Dossus, L, Kaaks, R, Hoppe, R, Lo, W-Y, Brüning, T, Hamann, U, Czene, K, Gabrielson, M, Hall, P, Eriksson, M, Jung, A, Becher, H, Couch, FJ, Larson, NL, Olson, JE, Ruddy, KJ, Giles, GG, MacInnis, RJ, Southey, MC, Le Marchand, L, Wilkens, LR, Haiman, CA, Olsson, H, Augustinsson, A, Krüger, U, Wagner, P, Scott, C, Winham, SJ, Vachon, CM, Perou, CM, Olshan, AF, Troester, MA, Hunter, DJ, Eliassen, HA, Tamimi, RM, Brantley, K, Andrulis, IL, Figueroa, J, Chanock, SJ, Ahearn, TU, García-Closas, M, Evans, GD, Newman, WG, van Veen, EM, Howell, A, Wolk, A, Håkansson, N, Anton-Culver, H, Ziogas, A, Jones, ME, Orr, N, Schoemaker, MJ, Swerdlow, AJ, Kitahara, CM, Linet, M, Prentice, RL, Easton, DF, Milne, RL, Kraft, P, Chang-Claude, J, and Lindström, S
Abstract: Use of menopausal hormone therapy (MHT) is associated with increased risk for breast cancer. However, the relevant mechanisms and its interaction with genetic variants are not fully understood. We conducted a genome-wide interaction analysis between MHT use and genetic variants for breast cancer risk in 27,585 cases and 34,785 controls from 26 observational studies. All women were post-menopausal and of European ancestry. Multivariable logistic regression models were used to test for multiplicative interactions between genetic variants and current MHT use. We considered interaction p-values < 5 × 10-8 as genome-wide significant, and p-values < 1 × 10-5 as suggestive. Linkage disequilibrium (LD)-based clumping was performed to identify independent candidate variants. None of the 9.7 million genetic variants tested for interactions with MHT use reached genome-wide significance. Only 213 variants, representing 18 independent loci, had p-values < 1 × 105. The strongest evidence was found for rs4674019 (p-value = 2.27 × 10-7), which showed genome-wide significant interaction (p-value = 3.8 × 10-8) with current MHT use when analysis was restricted to population-based studies only. Limiting the analyses to combined estrogen-progesterone MHT use only or to estrogen receptor (ER) positive cases did not identify any genome-wide significant evidence of interactions. In this large genome-wide SNP-MHT interaction study of breast cancer, we found no strong support for common genetic variants modifying the effect of MHT on breast cancer risk. These results suggest that common genetic variation has limited impact on the observed MHT-breast cancer risk association.
Published: 2022

8. Predicting the warfarin maintenance dose in elderly inpatients at treatment initiation: accuracy of dosing algorithms incorporating or not VKORC1/CYP2C9 genotypes

Author: MOREAU, C., PAUTAS, E., GOUIN‐THIBAULT, I., GOLMARD, J.‐L., MAHÉ, I., MULOT, C., LORIOT, M.‐A., and SIGURET, V.
Published: 2011
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9. Genome-wide association study identifies 32 novel breast cancer susceptibility loci from overall and subtype-specific analyses

Author: Zhang, H, Ahearn, TU, Lecarpentier, J, Barnes, D, Beesley, J, Qi, G, Jiang, X, O’Mara, TA, Zhao, N, Bolla, MK, Dunning, AM, Dennis, J, Wang, Q, Ful, ZA, Aittomäki, K, Andrulis, IL, Anton-Culver, H, Arndt, V, Aronson, KJ, Arun, BK, Auer, PL, Azzollini, J, Barrowdale, D, Becher, H, Beckmann, MW, Behrens, S, Benitez, J, Bermisheva, M, Bialkowska, K, Blanco, A, Blomqvist, C, Bogdanova, NV, Bojesen, SE, Bonanni, B, Bondavalli, D, Borg, A, Brauch, H, Brenner, H, Briceno, I, Broeks, A, Brucker, SY, Brüning, T, Burwinkel, B, Buys, SS, Byers, H, Caldés, T, Caligo, MA, Calvello, M, Campa, D, Castelao, JE, Chang-Claude, J, Chanock, SJ, Christiaens, M, Christiansen, H, Chung, WK, Claes, KBM, Clarke, CL, Cornelissen, S, Couch, FJ, Cox, A, Cross, SS, Czene, K, Daly, MB, Devilee, P, Diez, O, Domchek, SM, Dörk, T, Dwek, M, Eccles, DM, Ekici, AB, Evans, DG, Fasching, PA, Figueroa, J, Foretova, L, Fostira, F, Friedman, E, Frost, D, Gago-Dominguez, M, Gapstur, SM, Garber, J, García-Sáenz, JA, Gaudet, MM, Gayther, SA, Giles, GG, Godwin, AK, Goldberg, MS, Goldgar, DE, González-Neira, A, Greene, MH, Gronwald, J, Guénel, P, Häberle, L, Hahnen, E, Haiman, CA, Hake, CR, Hall, P, Hamann, U, Harkness, EF, Heemskerk-Gerritsen, BAM, Hillemanns, P, Hogervorst, FBL, Holleczek, B, Hollestelle, A, Hooning, MJ, Hoover, RN, Hopper, JL, Howell, A, Huebner, H, Hulick, PJ, Imyanitov, EN, Isaacs, C, Izatt, L, Jager, A, Jakimovska, M, Jakubowska, A, James, P, Janavicius, R, Janni, W, John, EM, Jones, ME, Jung, A, Kaaks, R, Kapoor, PM, Karlan, BY, Keeman, R, Khan, S, Khusnutdinova, E, Kitahara, CM, Ko, Y-D, Konstantopoulou, I, Koppert, LB, Koutros, S, Kristensen, VN, Laenkholm, A-V, Lambrechts, D, Larsson, SC, Laurent-Puig, P, Lazaro, C, Lazarova, E, Lejbkowicz, F, Leslie, G, Lesueur, F, Lindblom, A, Lissowska, J, Lo, W-Y, Loud, JT, Lubinski, J, Lukomska, A, MacInnis, RJ, Mannermaa, A, Manoochehri, M, Manoukian, S, Margolin, S, Martinez, ME, Matricardi, L, McGuffog, L, McLean, C, Mebirouk, N, Meindl, A, Menon, U, Miller, A, Mingazheva, E, Montagna, M, Mulligan, AM, Mulot, C, Muranen, TA, Nathanson, KL, Neuhausen, SL, Nevanlinna, H, Neven, P, Newman, WG, Nielsen, FC, Nikitina-Zake, L, Nodora, J, Offit, K, Olah, E, Olopade, OI, Olsson, H, Orr, N, Papi, L, Papp, J, Park-Simon, T-W, Parsons, MT, Peissel, B, Peixoto, A, Peshkin, B, Peterlongo, P, Peto, J, Phillips, K-A, Piedmonte, M, Plaseska-Karanfilska, D, Prajzendanc, K, Prentice, R, Prokofyeva, D, Rack, B, Radice, P, Ramus, SJ, Rantala, J, Rashid, MU, Rennert, G, Rennert, HS, Risch, HA, Romero, A, Rookus, MA, Rübner, M, Rüdiger, T, Saloustros, E, Sampson, S, Sandler, DP, Sawyer, EJ, Scheuner, MT, Schmutzler, RK, Schneeweiss, A, Schoemaker, MJ, Schöttker, B, Schürmann, P, Senter, L, Sharma, P, Sherman, ME, Shu, X-O, Singer, CF, Smichkoska, S, Soucy, P, Southey, MC, Spinelli, JJ, Stone, J, Stoppa-Lyonnet, D, Swerdlow, AJ, Szabo, CI, Tamimi, RM, Tapper, WJ, Taylor, JA, Teixeira, MR, Terry, M, Thomassen, M, Thull, DL, Tischkowitz, M, Toland, AE, Tollenaar, RAEM, Tomlinson, I, Torres, D, Troester, MA, Truong, T, Tung, N, Untch, M, Vachon, CM, van den Ouweland, AMW, van der Kolk, LE, van Veen, EM, vanRensburg, EJ, Vega, A, Wappenschmidt, B, Weinberg, CR, Weitzel, JN, Wildiers, H, Winqvist, R, Wolk, A, Yang, XR, Yannoukakos, D, Zheng, W, Zorn, KK, Milne, RL, Kraft, P, Simard, J, Pharoah, PDP, Michailidou, K, Antoniou, AC, Schmidt, MK, Chenevix-Trench, G, Easton, DF, Chatterjee, N, and García-Closas, M
Abstract: Breast cancer susceptibility variants frequently show heterogeneity in associations by tumor subtype1,2,3. To identify novel loci, we performed a genome-wide association study including 133,384 breast cancer cases and 113,789 controls, plus 18,908 BRCA1 mutation carriers (9,414 with breast cancer) of European ancestry, using both standard and novel methodologies that account for underlying tumor heterogeneity by estrogen receptor, progesterone receptor and human epidermal growth factor receptor 2 status and tumor grade. We identified 32 novel susceptibility loci (P
Published: 2020

10. Genome-wide association study identifies 32 novel breast cancer susceptibility loci from overall and subtype-specific analyses

Author: Zhan, H.Y., Ahearn, T.U., Lecarpentier, J., Barnes, D., Beesley, J., Qi, G.H., Jiang, X., O'Mara, T.A., Zhao, N., Bolla, M.K., Dunning, A.M., Dennis, J., Wang, Q., Abu Ful, Z., Aittomaki, K., Andrulis, I.L., Anton-Culver, H., Arndt, V., Aronson, K.J., Arun, B.K., Auer, P.L., Azzollini, J., Barrowdale, D., Becher, H., Beckmann, M.W., Behrens, S., Benitez, J., Bermisheva, M., Bialkowska, K., Blanco, A., Blomqvist, C., Bogdanova, N.V., Bojesen, S.E., Bonanni, B., Bondavalli, D., Borg, A., Brauch, H., Brenner, H., Briceno, I., Broeks, A., Brucker, S.Y., Bruning, T., Burwinkel, B., Buys, S.S., Byers, H., Caldes, T., Caligo, M.A., Calvello, M., Campa, D., Castelao, J.E., Chang-Claude, J., Chanock, S.J., Christiaens, M., Christiansen, H., Chung, W.K., Claes, K.B.M., Clarke, C.L., Cornelissen, S., Couch, F.J., Cox, A., Cross, S.S., Czene, K., Daly, M.B., Devilee, P., Diez, O., Domchek, S.M., Dork, T., Dwek, M., Eccles, D.M., Ekici, A.B., Evans, D.G., Fasching, P.A., Figueroa, J., Foretova, L., Fostira, F., Friedman, E., Frost, D., Gago-Dominguez, M., Gapstur, S.M., Garber, J., Garcia-Saenz, J.A., Gaudet, M.M., Gayther, S.A., Giles, G.G., Godwin, A.K., Goldberg, M.S., Goldgar, D.E., Gonzalez-Neira, A., Greene, M.H., Gronwald, J., Guenel, P., Haberle, L., Hahnen, E., Haiman, C.A., Hake, C.R., Hall, P., Hamann, U., Harkness, E.F., Heemskerk-Gerritsen, B.A.M., Hillemanns, P., Hogervorst, F.B.L., Holleczek, B., Hollestelle, A., Hooning, M.J., Hoover, R.N., Hopper, J.L., Howell, A., Huebner, H., Hulick, P.J., Imyanitov, E.N., Isaacs, C., Izatt, L., Jager, A., Jakimovska, M., Jakubowska, A., James, P., Janavicius, R., Janni, W., John, E.M., Jones, M.E., Jung, A., Kaaks, R., Kapoor, P.M., Karlan, B.Y., Keeman, R., Khan, S., Khusnutdinova, E., Kitahara, C.M., Ko, Y.D., Konstantopoulou, I., Koppert, L.B., Koutros, S., Kristensen, V.N., Laenkholm, A.V., Lambrechts, D., Larsson, S.C., Laurent-Puig, P., Lazaro, C., Lazarova, E., Lejbkowicz, F., Leslie, G., Lesueur, F., Lindblom, A., Lissowska, J., W.Y. lo, Loud, J.T., Lubinski, J., Lukomska, A., MacInnis, R.J., Mannermaa, A., Manoochehri, M., Manoukian, S., Margolin, S., Martinez, M.E., Matricardi, L., McGuffog, L., McLean, C., Mebirouk, N., Meindl, A., Menon, U., Miller, A., Mingazheva, E., Montagna, M., Mulligan, A.M., Mulot, C., Muranen, T.A., Nathanson, K.L., Neuhausen, S.L., Nevanlinna, H., Neven, P., Newman, W.G., Nielsens, F.C., Nikitina-Zake, L., Nodora, J., Offit, K., Olah, E., Olopade, O.I., Olsson, H., Orr, N., Papi, L., Papp, J., Park-Simon, T.W., Parsons, M.T., Peissel, B., Peixoto, A., Peshkin, B., Peterlongo, P., Peto, J., Phillips, K.A., Piedmonte, M., Plaseska-Karanfilska, D., Prajzendanc, K., Prentice, R., Prokofyeva, D., Rack, B., Radice, P., Ramus, S.J., Rantala, J., Rashid, M.U., Rennert, G., Rennert, H.S., Risch, H.A., Romero, A., Rookus, M.A., Rubner, M., Rudiger, T., Saloustros, E., Sampson, S., Sandler, D.P., Sawyer, E.J., Scheuner, M.T., Schmutzler, R.K., Schneeweiss, A., Schoemaker, M.J., Schottker, B., Schurmann, P., Senter, L., Sharma, P., Sherman, M.E., Shu, X.O., Singer, C.F., Smichkoska, S., Soucy, P., Southey, M.C., Spinelli, J.J., Stone, J., Stoppa-Lyonnet, D., Swerdlow, A.J., Szabo, C.I., Tamimi, R.M., Tapper, W.J., Taylor, J.A., Teixeira, M.R., Terry, M., Thomassen, M., Thull, D.L., Tischkowitz, M., Toland, A.E., Tollenaar, R.A.E.M., Tomlinson, I., Torres, D., Troester, M.A., Truong, T., Tung, N., Untch, M., Vachon, C.M., Ouweland, A.M.W. van den, Kolk, L.E. van der, Veen, E.M. van, vanRensburg, E.J., Vega, A., Wappenschmidt, B., Weinberg, C.R., Weitzel, J.N., Wildiers, H., Winqvist, R., Wolk, A., Yang, X.H.R., Yannoukakos, D., Zheng, W., Zorn, K.K., Milne, R.L., Kraft, P., Simard, J., Pharoah, P.D.P., Michailidou, K., Antoniou, A.C., Schmidt, M.K., Chenevix-Trench, G., Easton, D.F., Chatterjee, N., Garcia-Closas, M., kConFab Investigators, ABCTB Investigators, EMBRACE Study, and GEMO Study Collaborators
Abstract: Genome-wide analysis identifies 32 loci associated with breast cancer susceptibility, accounting for estrogen receptor, progesterone receptor and human epidermal growth factor receptor 2 status and tumor grade.Breast cancer susceptibility variants frequently show heterogeneity in associations by tumor subtype(1-3). To identify novel loci, we performed a genome-wide association study including 133,384 breast cancer cases and 113,789 controls, plus 18,908 BRCA1 mutation carriers (9,414 with breast cancer) of European ancestry, using both standard and novel methodologies that account for underlying tumor heterogeneity by estrogen receptor, progesterone receptor and human epidermal growth factor receptor 2 status and tumor grade. We identified 32 novel susceptibility loci (P < 5.0 x 10(-8)), 15 of which showed evidence for associations with at least one tumor feature (false discovery rate < 0.05). Five loci showed associations (P < 0.05) in opposite directions between luminal and non-luminal subtypes. In silico analyses showed that these five loci contained cell-specific enhancers that differed between normal luminal and basal mammary cells. The genetic correlations between five intrinsic-like subtypes ranged from 0.35 to 0.80. The proportion of genome-wide chip heritability explained by all known susceptibility loci was 54.2% for luminal A-like disease and 37.6% for triple-negative disease. The odds ratios of polygenic risk scores, which included 330 variants, for the highest 1% of quantiles compared with middle quantiles were 5.63 and 3.02 for luminal A-like and triple-negative disease, respectively. These findings provide an improved understanding of genetic predisposition to breast cancer subtypes and will inform the development of subtype-specific polygenic risk scores.
Published: 2020

11. Genome-wide association study identifies 32 novel breast cancer susceptibility loci from overall and subtype-specific analyses

Author: Zhang, H. (Haoyu), Ahearn, T. U. (Thomas U.), Lecarpentier, J. (Julie), Barnes, D. (Daniel), Beesley, J. (Jonathan), Qi, G. (Guanghao), Hang, X. (Xia), O'Mara, T. A. (Tracy A.), Zhao, N. (Ni), Bolla, M. K. (Manjeet K.), Dunning, A. M. (Alison M.), Dennis, J. (Joe), Wang, Q. (Qin), Abu Ful, Z. (Zumuruda), Aittomaki, K. (Kristiina), Andrulis, I. L. (Irene L.), Anton-Culver, H. (Hoda), Arndt, V. (Volker), Aronson, K. J. (Kristan J.), Arun, B. K. (Banu K.), Auer, P. L. (Paul L.), Azzollini, J. (Jacopo), Barrowdale, D. (Daniel), Becher, H. (Heiko), Beckmann, M. W. (Matthias W.), Behrens, S. (Sabine), Benitez, J. (Javier), Bermisheva, M. (Marina), Bialkowska, K. (Katarzyna), Blanco, A. (Ana), Blomqvist, C. (Carl), Bogdanova, N. V. (Natalia, V), Bojesen, S. E. (Stig E.), Bonanni, B. (Bernardo), Bondavalli, D. (Davide), Borg, A. (Ake), Brauch, H. (Hiltrud), Brenner, H. (Hermann), Briceno, I. (Ignacio), Broeks, A. (Annegien), Brucker, S. Y. (Sara Y.), Bruening, T. (Thomas), Burwinkel, B. (Barbara), Buys, S. S. (Saundra S.), Byers, H. (Helen), Caldes, T. (Trinidad), Caligo, M. A. (Maria A.), Calvello, M. (Mariarosaria), Campa, D. (Daniele), Castelao, J. E. (Jose E.), Chang-Claude, J. (Jenny), Chanock, S. J. (Stephen J.), Christiaens, M. (Melissa), Christiansen, H. (Hans), Chung, W. K. (Wendy K.), Claes, K. B. (Kathleen B. M.), Clarke, C. L. (Christine L.), Cornelissen, S. (Sten), Couch, F. J. (Fergus J.), Cox, A. (Angela), Cross, S. S. (Simon S.), Czene, K. (Kamila), Daly, M. B. (Mary B.), Devilee, P. (Peter), Diez, O. (Orland), Domchek, S. M. (Susan M.), Doerk, T. (Thilo), Dwek, M. (Miriam), Eccles, D. M. (Diana M.), Ekici, A. B. (Arif B.), Evans, D. G. (D. Gareth), Fasching, P. A. (Peter A.), Figueroa, J. (Jonine), Foretova, L. (Lenka), Fostira, F. (Florentia), Friedman, E. (Eitan), Frost, D. (Debra), Gago-Dominguez, M. (Manuela), Gapstur, S. M. (Susan M.), Garber, J. (Judy), Garcia-Saenz, J. A. (Jose A.), Gaudet, M. M. (Mia M.), Gayther, S. A. (Simon A.), Giles, G. G. (Graham G.), Godwin, A. K. (Andrew K.), Goldberg, M. S. (Mark S.), Goldgar, D. E. (David E.), Gonzalez-Neira, A. (Anna), Greene, M. H. (Mark H.), Gronwald, J. (Jacek), Guenel, P. (Pascal), Haeberle, L. (Lothar), Hahnen, E. (Eric), Haiman, C. A. (Christopher A.), Hake, C. R. (Christopher R.), Hall, P. (Per), Hamann, U. (Ute), Harkness, E. F. (Elaine F.), Heemskerk-Gerritsen, B. A. (Bernadette A. M.), Hillemanns, P. (Peter), Hogervorst, F. B. (Frans B. L.), Holleczek, B. (Bernd), Hollestelle, A. (Antoinette), Hooning, M. J. (Maartje J.), Hoover, R. N. (Robert N.), Hopper, J. L. (John L.), Howell, A. (Anthony), Huebner, H. (Hanna), Hulick, P. J. (Peter J.), Imyanitov, E. N. (Evgeny N.), Isaacs, C. (Claudine), Izatt, L. (Louise), Jager, A. (Agnes), Jakimovska, M. (Milena), Jakubowska, A. (Anna), James, P. (Paul), Janavicius, R. (Ramunas), Janni, W. (Wolfgang), John, E. M. (Esther M.), Jones, M. E. (Michael E.), Jung, A. (Audrey), Kaaks, R. (Rudolf), Kapoor, P. M. (Pooja Middha), Karlan, B. Y. (Beth Y.), Keeman, R. (Renske), Khan, S. (Sofia), Khusnutdinova, E. (Elza), Kitahara, C. M. (Cari M.), Ko, Y.-D. (Yon-Dschun), Konstantopoulou, I. (Irene), Koppert, L. B. (Linetta B.), Koutros, S. (Stella), Kristensen, V. N. (Vessela N.), Laenkholm, A.-V. (Anne-Vibeke), Lambrechts, D. (Diether), Larsson, S. C. (Susanna C.), Laurent-Puig, P. (Pierre), Lazaro, C. (Conxi), Lazarova, E. (Emilija), Lejbkowicz, F. (Flavio), Leslie, G. (Goska), Lesueur, F. (Fabienne), Lindblom, A. (Annika), Lissowska, J. (Jolanta), Lo, W.-Y. (Wing-Yee), Loud, J. T. (Jennifer T.), Lubinski, J. (Jan), Lukomska, A. (Alicja), Maclnnis, R. J. (Robert J.), Mannermaa, A. (Arto), Manoochehri, M. (Mehdi), Manoukian, S. (Siranoush), Margolin, S. (Sara), Martinez, M. E. (Maria Elena), Matricardi, L. (Laura), McGuffog, L. (Lesley), McLean, C. (Catriona), Mebirouk, N. (Noura), Meindl, A. (Alfons), Menon, U. (Usha), Miller, A. (Austin), Mingazheva, E. (Elvira), Montagna, M. (Marco), Mulligan, A. M. (Anna Marie), Mulot, C. (Claire), Muranen, T. A. (Taru A.), Nathanson, K. L. (Katherine L.), Neuhausen, S. L. (Susan L.), Nevanlinna, H. (Heli), Neven, P. (Patrick), Newman, W. G. (William G.), Nielsens, F. C. (Finn C.), Nikitina-Zake, L. (Liene), Nodora, J. (Jesse), Offit, K. (Kenneth), Olah, E. (Edith), Olopade, O. I. (Olufunmilayo, I), Olsson, H. (Hakan), Orr, N. (Nick), Papi, L. (Laura), Papp, J. (Janos), Park-Simon, T.-W. (Tjoung-Won), Parsons, M. T. (Michael T.), Peissel, B. (Bernard), Peixoto, A. (Ana), Peshkin, B. (Beth), Peterlongo, P. (Paolo), Peto, J. (Julian), Phillips, K.-A. (Kelly-Anne), Piedmonte, M. (Marion), Plaseska-Karanfilska, D. (Dijana), Prajzendanc, K. (Karolina), Prentice, R. (Ross), Prokofyeva, D. (Darya), Rack, B. (Brigitte), Radice, P. (Paolo), Ramus, S. J. (Susan J.), Rantala, J. (Johanna), Rashid, M. U. (Muhammad U.), Rennert, G. (Gad), Rennert, H. S. (Hedy S.), Risch, H. A. (Harvey A.), Romero, A. (Atocha), Rookus, M. A. (Matti A.), Ruebner, M. (Matthias), Ruediger, T. (Thomas), Saloustros, E. (Emmanouil), Sampson, S. (Sarah), Sandler, D. P. (Dale P.), Sawyer, E. J. (Elinor J.), Scheuner, M. T. (Maren T.), Schmutzler, R. K. (Rita K.), Schneeweiss, A. (Andreas), Schoemaker, M. J. (Minouk J.), Schoettker, B. (Ben), Schuermann, P. (Peter), Senter, L. (Leigha), Sharma, P. (Priyanka), Sherman, M. E. (Mark E.), Shu, X.-O. (Xiao-Ou), Singer, C. F. (Christian F.), Smichkoska, S. (Snezhana), Soucy, P. (Penny), Southey, M. C. (Melissa C.), Spinelli, J. J. (John J.), Stone, J. (Jennifer), Stoppa-Lyonnet, D. (Dominique), Swerdlow, A. J. (Anthony J.), Szabo, C. I. (Csilla, I), Tamimi, R. M. (Rulla M.), Tapper, W. J. (William J.), Taylor, J. A. (Jack A.), Teixeira, M. R. (Manuel R.), Terry, M. (MaryBeth), Thomassen, M. (Mads), Thull, D. L. (Darcy L.), Tischkowitz, M. (Marc), Toland, A. E. (Amanda E.), Tollenaar, R. A. (Rob A. E. M.), Tomlinson, I. (Ian), Torres, D. (Diana), Troester, M. A. (Melissa A.), Truong, T. (Therese), Tung, N. (Nadine), Untch, M. (Michael), Vachon, C. M. (Celine M.), van den Ouweland, A. M. (Ans M. W.), van der Kolk, L. E. (Lizet E.), van Veen, E. M. (Elke M.), vanRensburg, E. J. (Elizabeth J.), Vega, A. (Ana), Wappenschmidt, B. (Barbara), Weinberg, C. R. (Clarice R.), Weitzel, J. N. (Jeffrey N.), Wildiers, H. (Hans), Winqvist, R. (Robert), Wolk, A. (Alicja), Yang, X. R. (Xiaohong R.), Yannoukakos, D. (Drakoulis), Zheng, W. (Wei), Zorn, K. K. (Kristin K.), Milne, R. L. (Roger L.), Kraft, P. (Peter), Simard, J. (Jacques), Pharoah, P. D. (Paul D. P.), Michailidou, K. (Kyriaki), Antoniou, A. C. (Antonis C.), Schmidt, M. K. (Marjanka K.), Chenevix-Trench, G. (Georgia), Easton, D. F. (Douglas F.), Chatterjee, N. (Nilanjan), and Garcia-Closas, M. (Montserrat)
Abstract: Breast cancer susceptibility variants frequently show heterogeneity in associations by tumor subtype. To identify novel loci, we performed a genome-wide association study including 133,384 breast cancer cases and 113,789 controls, plus 18,908 BRCA1 mutation carriers (9,414 with breast cancer) of European ancestry, using both standard and novel methodologies that account for underlying tumor heterogeneity by estrogen receptor, progesterone receptor and human epidermal growth factor receptor 2 status and tumor grade. We identified 32 novel susceptibility loci (P
Published: 2020

12. Genome-wide association study identifies 32 novel breast cancer susceptibility loci from overall and subtype-specific analyses.

Author: Goldgar D.E., Newman W.G., Nielsen F.C., Nikitina-Zake L., Nodora J., Offit K., Olah E., Olopade O.I., Olsson H., Orr N., Papi L., Papp J., Park-Simon T.-W., Parsons M.T., Peissel B., Peixoto A., Peshkin B., Peterlongo P., Peto J., Phillips K.-A., Piedmonte M., Plaseska-Karanfilska D., Prajzendanc K., Prentice R., Prokofyeva D., Rack B., Radice P., Ramus S.J., Rantala J., Rashid M.U., Rennert G., Rennert H.S., Risch H.A., Romero A., Rookus M.A., Rubner M., Rudiger T., Saloustros E., Sampson S., Sandler D.P., Sawyer E.J., Scheuner M.T., Schmutzler R.K., Schneeweiss A., Schoemaker M.J., Schottker B., Schurmann P., Senter L., Sharma P., Sherman M.E., Shu X.-O., Singer C.F., Smichkoska S., Soucy P., Southey M.C., Spinelli J.J., Stone J., Stoppa-Lyonnet D., Swerdlow A.J., Szabo C.I., Tamimi R.M., Tapper W.J., Taylor J.A., Teixeira M.R., Terry M.B., Thomassen M., Thull D.L., Tischkowitz M., Toland A.E., Tollenaar R.A.E.M., Tomlinson I., Torres D., Troester M.A., Truong T., Tung N., Untch M., Vachon C.M., van den Ouweland A.M.W., van der Kolk L.E., van Veen E.M., vanRensburg E.J., Vega A., Wappenschmidt B., Weinberg C.R., Weitzel J.N., Wildiers H., Winqvist R., Wolk A., Yang X.R., Yannoukakos D., Zheng W., Zorn K.K., Milne R.L., Kraft P., Simard J., Pharoah P.D.P., Michailidou K., Antoniou A.C., Schmidt M.K., Chenevix-Trench G., Easton D.F., Chatterjee N., Garcia-Closas M., Zhang H., Ahearn T.U., Lecarpentier J., Barnes D., Beesley J., Qi G., Jiang X., O'Mara T.A., Zhao N., Bolla M.K., Dunning A.M., Dennis J., Wang Q., Ful Z.A., Aittomaki K., Andrulis I.L., Anton-Culver H., Arndt V., Aronson K.J., Arun B.K., Auer P.L., Azzollini J., Barrowdale D., Becher H., Beckmann M.W., Behrens S., Benitez J., Bermisheva M., Bialkowska K., Blanco A., Blomqvist C., Bogdanova N.V., Bojesen S.E., Bonanni B., Bondavalli D., Borg A., Brauch H., Brenner H., Briceno I., Broeks A., Brucker S.Y., Bruning T., Burwinkel B., Buys S.S., Byers H., Caldes T., Caligo M.A., Calvello M., Campa D., Castelao J.E., Chang-Claude J., Chanock S.J., Christiaens M., Christiansen H., Chung W.K., Claes K.B.M., Clarke C.L., Cornelissen S., Couch F.J., Cox A., Cross S.S., Czene K., Daly M.B., Devilee P., Diez O., Domchek S.M., Dork T., Dwek M., Eccles D.M., Ekici A.B., Evans D.G., Fasching P.A., Figueroa J., Foretova L., Fostira F., Friedman E., Frost D., Gago-Dominguez M., Gapstur S.M., Garber J., Garcia-Saenz J.A., Gaudet M.M., Gayther S.A., Giles G.G., Godwin A.K., Goldberg M.S., Gonzalez-Neira A., Greene M.H., Gronwald J., Guenel P., Haberle L., Hahnen E., Haiman C.A., Hake C.R., Hall P., Hamann U., Harkness E.F., Heemskerk-Gerritsen B.A.M., Hillemanns P., Hogervorst F.B.L., Holleczek B., Hollestelle A., Hooning M.J., Hoover R.N., Hopper J.L., Howell A., Huebner H., Hulick P.J., Imyanitov E.N., Isaacs C., Izatt L., Jager A., Jakimovska M., Jakubowska A., James P., Janavicius R., Janni W., John E.M., Jones M.E., Jung A., Kaaks R., Kapoor P.M., Karlan B.Y., Keeman R., Khan S., Khusnutdinova E., Kitahara C.M., Ko Y.-D., Konstantopoulou I., Koppert L.B., Koutros S., Kristensen V.N., Laenkholm A.-V., Lambrechts D., Larsson S.C., Laurent-Puig P., Lazaro C., Lazarova E., Lejbkowicz F., Leslie G., Lesueur F., Lindblom A., Lissowska J., Lo W.-Y., Loud J.T., Lubinski J., Lukomska A., MacInnis R.J., Mannermaa A., Manoochehri M., Manoukian S., Margolin S., Martinez M.E., Matricardi L., McGuffog L., McLean C., Mebirouk N., Meindl A., Menon U., Miller A., Mingazheva E., Montagna M., Mulligan A.M., Mulot C., Muranen T.A., Nathanson K.L., Neuhausen S.L., Nevanlinna H., Neven P., Goldgar D.E., Newman W.G., Nielsen F.C., Nikitina-Zake L., Nodora J., Offit K., Olah E., Olopade O.I., Olsson H., Orr N., Papi L., Papp J., Park-Simon T.-W., Parsons M.T., Peissel B., Peixoto A., Peshkin B., Peterlongo P., Peto J., Phillips K.-A., Piedmonte M., Plaseska-Karanfilska D., Prajzendanc K., Prentice R., Prokofyeva D., Rack B., Radice P., Ramus S.J., Rantala J., Rashid M.U., Rennert G., Rennert H.S., Risch H.A., Romero A., Rookus M.A., Rubner M., Rudiger T., Saloustros E., Sampson S., Sandler D.P., Sawyer E.J., Scheuner M.T., Schmutzler R.K., Schneeweiss A., Schoemaker M.J., Schottker B., Schurmann P., Senter L., Sharma P., Sherman M.E., Shu X.-O., Singer C.F., Smichkoska S., Soucy P., Southey M.C., Spinelli J.J., Stone J., Stoppa-Lyonnet D., Swerdlow A.J., Szabo C.I., Tamimi R.M., Tapper W.J., Taylor J.A., Teixeira M.R., Terry M.B., Thomassen M., Thull D.L., Tischkowitz M., Toland A.E., Tollenaar R.A.E.M., Tomlinson I., Torres D., Troester M.A., Truong T., Tung N., Untch M., Vachon C.M., van den Ouweland A.M.W., van der Kolk L.E., van Veen E.M., vanRensburg E.J., Vega A., Wappenschmidt B., Weinberg C.R., Weitzel J.N., Wildiers H., Winqvist R., Wolk A., Yang X.R., Yannoukakos D., Zheng W., Zorn K.K., Milne R.L., Kraft P., Simard J., Pharoah P.D.P., Michailidou K., Antoniou A.C., Schmidt M.K., Chenevix-Trench G., Easton D.F., Chatterjee N., Garcia-Closas M., Zhang H., Ahearn T.U., Lecarpentier J., Barnes D., Beesley J., Qi G., Jiang X., O'Mara T.A., Zhao N., Bolla M.K., Dunning A.M., Dennis J., Wang Q., Ful Z.A., Aittomaki K., Andrulis I.L., Anton-Culver H., Arndt V., Aronson K.J., Arun B.K., Auer P.L., Azzollini J., Barrowdale D., Becher H., Beckmann M.W., Behrens S., Benitez J., Bermisheva M., Bialkowska K., Blanco A., Blomqvist C., Bogdanova N.V., Bojesen S.E., Bonanni B., Bondavalli D., Borg A., Brauch H., Brenner H., Briceno I., Broeks A., Brucker S.Y., Bruning T., Burwinkel B., Buys S.S., Byers H., Caldes T., Caligo M.A., Calvello M., Campa D., Castelao J.E., Chang-Claude J., Chanock S.J., Christiaens M., Christiansen H., Chung W.K., Claes K.B.M., Clarke C.L., Cornelissen S., Couch F.J., Cox A., Cross S.S., Czene K., Daly M.B., Devilee P., Diez O., Domchek S.M., Dork T., Dwek M., Eccles D.M., Ekici A.B., Evans D.G., Fasching P.A., Figueroa J., Foretova L., Fostira F., Friedman E., Frost D., Gago-Dominguez M., Gapstur S.M., Garber J., Garcia-Saenz J.A., Gaudet M.M., Gayther S.A., Giles G.G., Godwin A.K., Goldberg M.S., Gonzalez-Neira A., Greene M.H., Gronwald J., Guenel P., Haberle L., Hahnen E., Haiman C.A., Hake C.R., Hall P., Hamann U., Harkness E.F., Heemskerk-Gerritsen B.A.M., Hillemanns P., Hogervorst F.B.L., Holleczek B., Hollestelle A., Hooning M.J., Hoover R.N., Hopper J.L., Howell A., Huebner H., Hulick P.J., Imyanitov E.N., Isaacs C., Izatt L., Jager A., Jakimovska M., Jakubowska A., James P., Janavicius R., Janni W., John E.M., Jones M.E., Jung A., Kaaks R., Kapoor P.M., Karlan B.Y., Keeman R., Khan S., Khusnutdinova E., Kitahara C.M., Ko Y.-D., Konstantopoulou I., Koppert L.B., Koutros S., Kristensen V.N., Laenkholm A.-V., Lambrechts D., Larsson S.C., Laurent-Puig P., Lazaro C., Lazarova E., Lejbkowicz F., Leslie G., Lesueur F., Lindblom A., Lissowska J., Lo W.-Y., Loud J.T., Lubinski J., Lukomska A., MacInnis R.J., Mannermaa A., Manoochehri M., Manoukian S., Margolin S., Martinez M.E., Matricardi L., McGuffog L., McLean C., Mebirouk N., Meindl A., Menon U., Miller A., Mingazheva E., Montagna M., Mulligan A.M., Mulot C., Muranen T.A., Nathanson K.L., Neuhausen S.L., Nevanlinna H., and Neven P.
Abstract: Breast cancer susceptibility variants frequently show heterogeneity in associations by tumor subtype1-3. To identify novel loci, we performed a genome-wide association study including 133,384 breast cancer cases and 113,789 controls, plus 18,908 BRCA1 mutation carriers (9,414 with breast cancer) of European ancestry, using both standard and novel methodologies that account for underlying tumor heterogeneity by estrogen receptor, progesterone receptor and human epidermal growth factor receptor 2 status and tumor grade. We identified 32 novel susceptibility loci (P < 5.0 x 10-8), 15 of which showed evidence for associations with at least one tumor feature (false discovery rate < 0.05). Five loci showed associations (P < 0.05) in opposite directions between luminal and non-luminal subtypes. In silico analyses showed that these five loci contained cell-specific enhancers that differed between normal luminal and basal mammary cells. The genetic correlations between five intrinsic-like subtypes ranged from 0.35 to 0.80. The proportion of genome-wide chip heritability explained by all known susceptibility loci was 54.2% for luminal A-like disease and 37.6% for triple-negative disease. The odds ratios of polygenic risk scores, which included 330 variants, for the highest 1% of quantiles compared with middle quantiles were 5.63 and 3.02 for luminal A-like and triple-negative disease, respectively. These findings provide an improved understanding of genetic predisposition to breast cancer subtypes and will inform the development of subtype-specific polygenic risk scores.Copyright © 2020, The Author(s), under exclusive licence to Springer Nature America, Inc.
Published: 2020

13. Genome-wide association study identifies 32 novel breast cancer susceptibility loci from overall and subtype-specific analyses

Author: Zhan, H, Ahearn, TU, Lecarpentier, J, Barnes, D, Beesley, J, Qi, G, Jiang, X, O'Mara, TA, Zhao, N, Bolla, MK, Dunning, AM, Dennis, J, Wang, Q, Abu Ful, Z, Aittomaki, K, Andrulis, IL, Anton-Culver, H, Arndt, V, Aronson, KJ, Arun, BK, Auer, PL, Azzollini, J, Barrowdale, D, Becher, H, Beckmann, MW, Behrens, S, Benitez, J, Bermisheva, M, Bialkowska, K, Blanco, A, Blomqvist, C, Bogdanova, N, Bojesen, SE, Bonanni, B, Bondavalli, D, Borg, A, Brauch, H, Brenner, H, Briceno, I, Broeks, A, Brucker, SY, Bruening, T, Burwinkel, B, Buys, SS, Byers, H, Caldes, T, Caligo, MA, Calvello, M, Campa, D, Castelao, JE, Chang-Claude, J, Chanock, SJ, Christiaens, M, Christiansen, H, Chung, WK, Claes, KBM, Clarke, CL, Cornelissen, S, Couch, FJ, Cox, A, Cross, SS, Czene, K, Daly, MB, Devilee, P, Diez, O, Domchek, SM, Doerk, T, Dwek, M, Eccles, DM, Ekici, AB, Evans, DG, Fasching, PA, Figueroa, J, Foretova, L, Fostira, F, Friedman, E, Frost, D, Gago-Dominguez, M, Gapstur, SM, Garber, J, Garcia-Saenz, JA, Gaudet, MM, Gayther, SA, Giles, GG, Godwin, AK, Goldberg, MS, Goldgar, DE, Gonzalez-Neira, A, Greene, MH, Gronwald, J, Guenel, P, Haeberle, L, Hahnen, E, Haiman, CA, Hake, CR, Hall, P, Hamann, U, Harkness, EF, Heemskerk-Gerritsen, BAM, Hillemanns, P, Hogervorst, FBL, Holleczek, B, Hollestelle, A, Hooning, MJ, Hoover, RN, Hopper, JL, Howell, A, Huebner, H, Hulick, PJ, Imyanitov, EN, Isaacs, C, Izatt, L, Jager, A, Jakimovska, M, Jakubowska, A, James, P, Janavicius, R, Janni, W, John, EM, Jones, ME, Jung, A, Kaaks, R, Kapoor, PM, Karlan, BY, Keeman, R, Khan, S, Khusnutdinova, E, Kitahara, CM, Ko, Y-D, Konstantopoulou, I, Koppert, LB, Koutros, S, Kristensen, VN, Laenkholm, A-V, Lambrechts, D, Larsson, SC, Laurent-Puig, P, Lazaro, C, Lazarova, E, Lejbkowicz, F, Leslie, G, Lesueur, F, Lindblom, A, Lissowska, J, Lo, W-Y, Loud, JT, Lubinski, J, Lukomska, A, MacInnis, RJ, Mannermaa, A, Manoochehri, M, Manoukian, S, Margolin, S, Martinez, ME, Matricardi, L, McGuffog, L, McLean, C, Mebirouk, N, Meindl, A, Menon, U, Miller, A, Mingazheva, E, Montagna, M, Mulligan, AM, Mulot, C, Muranen, TA, Nathanson, KL, Neuhausen, SL, Nevanlinna, H, Neven, P, Newman, WG, Nielsens, FC, Nikitina-Zake, L, Nodora, J, Offit, K, Olah, E, Olopade, O, Olsson, H, Orr, N, Papi, L, Papp, J, Park-Simon, T-W, Parsons, MT, Peissel, B, Peixoto, A, Peshkin, B, Peterlongo, P, Peto, J, Phillips, K-A, Piedmonte, M, Plaseska-Karanfilska, D, Prajzendanc, K, Prentice, R, Prokofyeva, D, Rack, B, Radice, P, Ramus, SJ, Rantala, J, Rashid, MU, Rennert, G, Rennert, HS, Risch, HA, Romero, A, Rookus, MA, Ruebner, M, Ruediger, T, Saloustros, E, Sampson, S, Sandler, DP, Sawyer, EJ, Scheuner, MT, Schmutzler, RK, Schneeweiss, A, Schoemaker, MJ, Schoettker, B, Schuermann, P, Senter, L, Sharma, P, Sherman, ME, Shu, X-O, Singer, CF, Smichkoska, S, Soucy, P, Southey, MC, Spinelli, JJ, Stone, J, Stoppa-Lyonnet, D, Swerdlow, AJ, Szabo, C, Tamimi, RM, Tapper, WJ, Taylor, JA, Teixeira, MR, Terry, M, Thomassen, M, Thull, DL, Tischkowitz, M, Toland, AE, Tollenaar, RAEM, Tomlinson, I, Torres, D, Troester, MA, Truong, T, Tung, N, Untch, M, Vachon, CM, van den Ouweland, AMW, van der Kolk, LE, van Veen, EM, vanRensburg, EJ, Vega, A, Wappenschmidt, B, Weinberg, CR, Weitzel, JN, Wildiers, H, Winqvist, R, Wolk, A, Yang, XR, Yannoukakos, D, Zheng, W, Zorn, KK, Milne, RL, Kraft, P, Simard, J, Pharoah, PDP, Michailidou, K, Antoniou, AC, Schmidt, MK, Chenevix-Trench, G, Easton, DF, Chatterjee, N, Garcia-Closas, M, Zhan, H, Ahearn, TU, Lecarpentier, J, Barnes, D, Beesley, J, Qi, G, Jiang, X, O'Mara, TA, Zhao, N, Bolla, MK, Dunning, AM, Dennis, J, Wang, Q, Abu Ful, Z, Aittomaki, K, Andrulis, IL, Anton-Culver, H, Arndt, V, Aronson, KJ, Arun, BK, Auer, PL, Azzollini, J, Barrowdale, D, Becher, H, Beckmann, MW, Behrens, S, Benitez, J, Bermisheva, M, Bialkowska, K, Blanco, A, Blomqvist, C, Bogdanova, N, Bojesen, SE, Bonanni, B, Bondavalli, D, Borg, A, Brauch, H, Brenner, H, Briceno, I, Broeks, A, Brucker, SY, Bruening, T, Burwinkel, B, Buys, SS, Byers, H, Caldes, T, Caligo, MA, Calvello, M, Campa, D, Castelao, JE, Chang-Claude, J, Chanock, SJ, Christiaens, M, Christiansen, H, Chung, WK, Claes, KBM, Clarke, CL, Cornelissen, S, Couch, FJ, Cox, A, Cross, SS, Czene, K, Daly, MB, Devilee, P, Diez, O, Domchek, SM, Doerk, T, Dwek, M, Eccles, DM, Ekici, AB, Evans, DG, Fasching, PA, Figueroa, J, Foretova, L, Fostira, F, Friedman, E, Frost, D, Gago-Dominguez, M, Gapstur, SM, Garber, J, Garcia-Saenz, JA, Gaudet, MM, Gayther, SA, Giles, GG, Godwin, AK, Goldberg, MS, Goldgar, DE, Gonzalez-Neira, A, Greene, MH, Gronwald, J, Guenel, P, Haeberle, L, Hahnen, E, Haiman, CA, Hake, CR, Hall, P, Hamann, U, Harkness, EF, Heemskerk-Gerritsen, BAM, Hillemanns, P, Hogervorst, FBL, Holleczek, B, Hollestelle, A, Hooning, MJ, Hoover, RN, Hopper, JL, Howell, A, Huebner, H, Hulick, PJ, Imyanitov, EN, Isaacs, C, Izatt, L, Jager, A, Jakimovska, M, Jakubowska, A, James, P, Janavicius, R, Janni, W, John, EM, Jones, ME, Jung, A, Kaaks, R, Kapoor, PM, Karlan, BY, Keeman, R, Khan, S, Khusnutdinova, E, Kitahara, CM, Ko, Y-D, Konstantopoulou, I, Koppert, LB, Koutros, S, Kristensen, VN, Laenkholm, A-V, Lambrechts, D, Larsson, SC, Laurent-Puig, P, Lazaro, C, Lazarova, E, Lejbkowicz, F, Leslie, G, Lesueur, F, Lindblom, A, Lissowska, J, Lo, W-Y, Loud, JT, Lubinski, J, Lukomska, A, MacInnis, RJ, Mannermaa, A, Manoochehri, M, Manoukian, S, Margolin, S, Martinez, ME, Matricardi, L, McGuffog, L, McLean, C, Mebirouk, N, Meindl, A, Menon, U, Miller, A, Mingazheva, E, Montagna, M, Mulligan, AM, Mulot, C, Muranen, TA, Nathanson, KL, Neuhausen, SL, Nevanlinna, H, Neven, P, Newman, WG, Nielsens, FC, Nikitina-Zake, L, Nodora, J, Offit, K, Olah, E, Olopade, O, Olsson, H, Orr, N, Papi, L, Papp, J, Park-Simon, T-W, Parsons, MT, Peissel, B, Peixoto, A, Peshkin, B, Peterlongo, P, Peto, J, Phillips, K-A, Piedmonte, M, Plaseska-Karanfilska, D, Prajzendanc, K, Prentice, R, Prokofyeva, D, Rack, B, Radice, P, Ramus, SJ, Rantala, J, Rashid, MU, Rennert, G, Rennert, HS, Risch, HA, Romero, A, Rookus, MA, Ruebner, M, Ruediger, T, Saloustros, E, Sampson, S, Sandler, DP, Sawyer, EJ, Scheuner, MT, Schmutzler, RK, Schneeweiss, A, Schoemaker, MJ, Schoettker, B, Schuermann, P, Senter, L, Sharma, P, Sherman, ME, Shu, X-O, Singer, CF, Smichkoska, S, Soucy, P, Southey, MC, Spinelli, JJ, Stone, J, Stoppa-Lyonnet, D, Swerdlow, AJ, Szabo, C, Tamimi, RM, Tapper, WJ, Taylor, JA, Teixeira, MR, Terry, M, Thomassen, M, Thull, DL, Tischkowitz, M, Toland, AE, Tollenaar, RAEM, Tomlinson, I, Torres, D, Troester, MA, Truong, T, Tung, N, Untch, M, Vachon, CM, van den Ouweland, AMW, van der Kolk, LE, van Veen, EM, vanRensburg, EJ, Vega, A, Wappenschmidt, B, Weinberg, CR, Weitzel, JN, Wildiers, H, Winqvist, R, Wolk, A, Yang, XR, Yannoukakos, D, Zheng, W, Zorn, KK, Milne, RL, Kraft, P, Simard, J, Pharoah, PDP, Michailidou, K, Antoniou, AC, Schmidt, MK, Chenevix-Trench, G, Easton, DF, Chatterjee, N, and Garcia-Closas, M
Abstract: Breast cancer susceptibility variants frequently show heterogeneity in associations by tumor subtype1-3. To identify novel loci, we performed a genome-wide association study including 133,384 breast cancer cases and 113,789 controls, plus 18,908 BRCA1 mutation carriers (9,414 with breast cancer) of European ancestry, using both standard and novel methodologies that account for underlying tumor heterogeneity by estrogen receptor, progesterone receptor and human epidermal growth factor receptor 2 status and tumor grade. We identified 32 novel susceptibility loci (P < 5.0 × 10-8), 15 of which showed evidence for associations with at least one tumor feature (false discovery rate < 0.05). Five loci showed associations (P < 0.05) in opposite directions between luminal and non-luminal subtypes. In silico analyses showed that these five loci contained cell-specific enhancers that differed between normal luminal and basal mammary cells. The genetic correlations between five intrinsic-like subtypes ranged from 0.35 to 0.80. The proportion of genome-wide chip heritability explained by all known susceptibility loci was 54.2% for luminal A-like disease and 37.6% for triple-negative disease. The odds ratios of polygenic risk scores, which included 330 variants, for the highest 1% of quantiles compared with middle quantiles were 5.63 and 3.02 for luminal A-like and triple-negative disease, respectively. These findings provide an improved understanding of genetic predisposition to breast cancer subtypes and will inform the development of subtype-specific polygenic risk scores.
Published: 2020

14. Genome-wide association study of germline variants and breast cancer-specific mortality

Author: Escala-Garcia, M., Guo, Q., Dork, T., Canisius, S., Keeman, R., Dennis, J., Beesley, J., Lecarpentier, J., Bolla, M.K., Wang, Q., Abraham, J., Andrulis, I.L., Anton-Culver, H., Arndt, V., Auer, P.L., Beckmann, M.W., Behrens, S., Benitez, J., Bermisheva, M., Bernstein, L., Blomqvist, C., Boeckx, B., Bojesen, S.E., Bonanni, B., Borresen-Dale, A.L., Brauch, H., Brenner, H., Brentnall, A., Brinton, L., Broberg, P., Brock, I.W., Brucker, S.Y., Burwinkel, B., Caldas, C., Caldes, T., Campa, D., Canzian, F., Carracedo, A., Carter, B.D., Castelao, J.E., Chang-Claude, J., Chanock, S.J., Chenevix-Trench, G., Cheng, T.Y.D., Chin, S.F., Clarke, C.L., Cordina-Duverger, E., Couch, F.J., Cox, D.G., Cox, A., Cross, S.S., Czene, K., Daly, M.B., Devilee, P., Dunn, J.A., Dunning, A.M., Durcan, L., Dwek, M., Earl, H.M., Ekici, A.B., Eliassen, A.H., Ellberg, C., Engel, C., Eriksson, M., Evans, D.G., Figueroa, J., Flesch-Janys, D., Flyger, H., Gabrielson, M., Gago-Dominguez, M., Galle, E., Gapstur, S.M., Garcia-Closas, M., Garcia-Saenz, J.A., Gaudet, M.M., George, A., Georgoulias, V., Giles, G.G., Glendon, G., Goldgar, D.E., Gonzalez-Neira, A., Alnaes, G.I.G., Grip, M., Guenel, P., Haeberle, L., Hahnen, E., Haiman, C.A., Hakansson, N., Hall, P., Hamann, U., Hankinson, S., Harkness, E.F., Harrington, P.A., Hart, S.N., Hartikainen, J.M., Hein, A., Hillemanns, P., Hiller, L., Holleczek, B., Hollestelle, A., Hooning, M.J., Hoover, R.N., Hopper, J.L., Howell, A., Huang, G.M.Q., Humphreys, K., Hunter, D.J., Janni, W., John, E.M., Jones, M.E., Jukkola-Vuorinen, A., Jung, A., Kaaks, R., Kabisch, M., Kaczmarek, K., Kerin, M.J., Khan, S., Khusnutdinova, E., Kiiski, J.I., Kitahara, C.M., Knight, J.A., Ko, Y.D., Koppert, L.B., Kosma, V.M., Kraft, P., Kristensen, V.N., Kruger, U., Kuhl, T., Lambrechts, D., Marchand, L. le, Lee, E., Lejbkowicz, F., Li, L., Lindblom, A., Lindstrom, S., Linet, M., Lissowska, J., W.Y. lo, Loibl, S., Lubinski, J., Lux, M.P., MacInnis, R.J., Maierthaler, M., Maishman, T., Makalic, E., Mannermaa, A., Manoochehri, M., Manoukian, S., Margolin, S., Martinez, M.E., Mavroudis, D., McLean, C., Meindl, A., Middha, P., Miller, N., Milne, R.L., Moreno, F., Mulligan, A.M., Mulot, C., Nassir, R., Neuhausen, S.L., Newman, W.T., Nielsen, S.F., Nordestgaard, B.G., Norman, A., Olsson, H., Orr, N., Pankratz, V.S., Park-Simon, T.W., Perez, J.I.A., Perez-Barrios, C., Peterlongo, P., Petridis, C., Pinchev, M., Prajzendanc, K., Prentice, R., Presneau, N., Prokofieva, D., Pylkas, K., Rack, B., Radice, P., Ramachandran, D., Rennert, G., Rennert, H.S., Rhenius, V., Romero, A., Roylance, R., Saloustros, E., Sawyer, E.J., Schmidt, D.F., Schmutzler, R.K., Schneeweiss, A., Schoemaker, M.J., Schumacher, F., Schwentner, L., Scott, R.J., Scott, C., Seynaeve, C., Shah, M., Simard, J., Smeets, A., Sohn, C., Southey, M.C., Swerdlow, A.J., Talhouk, A., Tamimi, R.M., Tapper, W.J., Teixeira, M.R., Tengstrom, M., Terry, M.B., Thone, K., Tollenaar, R.A.E.M., Tomlinson, I., Torres, D., Truong, T., Turman, C., Turnbull, C., Ulmer, H.U., Untch, M., Vachon, C., Asperen, C.J. van, Ouweland, A.M.W. van den, Veen, E.M. van, Wendt, C., Whittemore, A.S., Willett, W., Winqvist, R., Wolk, A., Yang, X.R., Zhang, Y., Easton, D.F., Fasching, P.A., Nevanlinna, H., Eccles, D.M., Pharoah, P.D.P., Schmidt, M.K., and NBCS Collaborators
Abstract: BACKGROUND: We examined the associations between germline variants and breast cancer mortality using a large meta-analysis of women of European ancestry.METHODS: Meta-analyses included summary estimates based on Cox models of twelve datasets using similar to 10.4 million variants for 96,661 women with breast cancer and 7697 events (breast cancer-specific deaths). Oestrogen receptor (ER)-specific analyses were based on 64,171 ER-positive (4116) and 16,172 ER-negative (2125) patients. We evaluated the probability of a signal to be a true positive using the Bayesian false discovery probability (BFDP).RESULTS: We did not find any variant associated with breast cancer-specific mortality at P
Published: 2019

15. Germline variation at 8q24 and prostate cancer risk in men of European ancestry (vol 9, 4616, 2018)

Author: Matejcic, M, Saunders, EJ, Dadaev, T, Brook, MN, Wang, K, Sheng, X, Al Olama, AA, Schumacher, FR, Ingles, SA, Govindasami, K, Benlloch, S, Berndt, SI, Albanes, D, Koutros, S, Muir, K, Stevens, VL, Gapstur, SM, Tangen, CM, Batra, J, Clements, J, Gronberg, H, Pashayan, N, Schleutker, J, Wolk, A, West, C, Mucci, L, Kraft, P, Cancel-Tassin, G, Sorensen, KD, Maehle, L, Grindedal, EM, Strom, SS, Neal, DE, Hamdy, FC, Donovan, JL, Travis, RC, Hamilton, RJ, Rosenstein, B, Lu, Y-J, Giles, GG, Kibel, AS, Vega, A, Bensen, JT, Kogevinas, M, Penney, KL, Park, JY, Stanford, JL, Cybulski, C, Nordestgaard, BG, Brenner, H, Maier, C, Kim, J, Teixeira, MR, Neuhausen, SL, De Ruyck, K, Razack, A, Newcomb, LF, Lessel, D, Kaneva, R, Usmani, N, Claessens, F, Townsend, PA, Gago-Dominguez, M, Roobol, MJ, Menegaux, F, Khaw, K-T, Cannon-Albright, LA, Pandha, H, Thibodeau, SN, Schaid, DJ, Wiklund, F, Chanock, SJ, Easton, DF, Eeles, RA, Kote-Jarai, Z, Conti, DV, Haiman, CA, Henderson, BE, Stern, MC, Thwaites, A, Guy, M, Whitmore, I, Morgan, A, Fisher, C, Hazel, S, Livni, N, Cook, M, Fachal, L, Weinstein, S, Freeman, LEB, Hoover, RN, Machiela, MJ, Lophatananon, A, Carter, BD, Goodman, P, Moya, L, Srinivasan, S, Kedda, M-A, Yeadon, T, Eckert, A, Eklund, M, Cavalli-Bjoerkman, C, Dunning, AM, Sipeky, C, Hakansson, N, Elliott, R, Ranu, H, Giovannucci, E, Turman, C, Hunter, DJ, Cussenot, O, Orntoft, TF, Lane, A, Lewis, SJ, Davis, M, Key, TJ, Brown, P, Kulkarni, GS, Zlotta, AR, Fleshner, NE, Finelli, A, Mao, X, Marzec, J, MacInnis, RJ, Milne, R, Hopper, JL, Aguado, M, Bustamante, M, Castano-Vinyals, G, Gracia-Lavedan, E, Cecchini, L, Stampfer, M, Ma, J, Sellers, TA, Geybels, MS, Park, H, Zachariah, B, Kolb, S, Wokolorczyk, D, Lubinski, J, Kluzniak, W, Nielsen, SF, Weisher, M, Cuk, K, Vogel, W, Luedeke, M, Logothetis, CJ, Paulo, P, Cardoso, M, Maia, S, Silva, MP, Steele, L, Ding, YC, De Meerleer, G, De Langhe, S, Thierens, H, Lim, J, Tan, MH, Ong, AT, Lin, DW, Kachakova, D, Mitkova, A, Mitev, V, Parliament, M, Jenster, G, Bangma, C, Schroder, FH, Truong, T, Koudou, YA, Michael, A, Kierzek, A, Karlsson, A, Broms, M, Wu, H, Aukim-Hastie, C, Tillmans, L, Riska, S, McDonnell, SK, Dearnaley, D, Spurdle, A, Gardiner, R, Hayes, V, Butler, L, Taylor, R, Papargiris, M, Saunders, P, Kujala, P, Talala, K, Taari, K, Bentzen, S, Hicks, B, Vogt, A, Hutchinson, A, Cox, A, George, A, Toi, A, Evans, A, Van der Kwast, TH, Imai, T, Saito, S, Zhao, S-C, Ren, G, Zhang, Y, Yu, Y, Wu, Y, Wu, J, Zhou, B, Pedersen, J, Lobato-Busto, R, Manuel Ruiz-Dominguez, J, Mengual, L, Alcaraz, A, Pow-Sang, J, Herkommer, K, Vlahova, A, Dikov, T, Christova, S, Carracedo, A, Tretarre, B, Rebillard, X, Mulot, C, Adolfsson, J, Stattin, P, Johansson, J-E, Martin, RM, Thompson, IM, Chambers, S, Aitken, J, Horvath, L, Haynes, A-M, Tilley, W, Risbridger, G, Aly, M, Nordstrom, T, Pharoah, P, Tammela, TLJ, Murtola, T, Auvinen, A, Burnet, N, Barnett, G, Andriole, G, Klim, A, Drake, BF, Borre, M, Kerns, S, Ostrer, H, Zhang, H-W, Cao, G, Lin, J, Ling, J, Li, M, Feng, N, Li, J, He, W, Guo, X, Sun, Z, Wang, G, Guo, J, Southey, MC, FitzGerald, LM, Marsden, G, Gomez-Caamano, A, Carballo, A, Peleteiro, P, Calvo, P, Szulkin, R, Llorca, J, Dierssen-Sotos, T, Gomez-Acebo, I, Lin, H-Y, Ostrander, EA, Bisbjerg, R, Klarskov, P, Roder, MA, Iversen, P, Holleczek, B, Stegmaier, C, Schnoeller, T, Bohnert, P, John, EM, Ost, P, Teo, S-H, Gamulin, M, Kulis, T, Kastelan, Z, Slavov, C, Popov, E, Van den Broeck, T, Joniau, S, Larkin, S, Esteban Castelao, J, Martinez, ME, Van Schaik, RHN, Xu, J, Lindstrom, S, Riboli, E, Berry, C, Siddiq, A, Canzian, F, Kolonel, LN, Le Marchand, L, Freedman, M, Cenee, S, Sanchez, M, and Commission of the European Communities
Subjects: Multidisciplinary Sciences, Science & Technology, MD Multidisciplinary, Science & Technology - Other Topics, PRACTICAL Consortium
Abstract: Correction to: Nature Communications; https://doi.org/10.1038/s41467-018-06863-1, published online 5 November 2018.
Published: 2019

16. Genome-wide association study of germline variants and breast cancer-specific mortality

Author: Escala-Garcia, M. (Maria), Guo, Q. (Qi), Doerk, T. (Thilo), Canisius, S. (Sander), Keeman, R. (Renske), Dennis, J. (Joe), Beesley, J. (Jonathan), Lecarpentier, J. (Julie), Bolla, M. K. (Manjeet K.), Wang, Q. (Qin), Abraham, J. (Jean), Andrulis, I. L. (Irene L.), Anton-Culver, H. (Hoda), Arndt, V. (Volker), Auer, P. L. (Paul L.), Beckmann, M. W. (Matthias W.), Behrens, S. (Sabine), Benitez, J. (Javier), Bermisheva, M. (Marina), Bernstein, L. (Leslie), Blomqvist, C. (Carl), Boeckx, B. (Bram), Bojesen, S. E. (Stig E.), Bonanni, B. (Bernardo), Borresen-Dale, A.-L. (Anne-Lise), Brauch, H. (Hiltrud), Brenner, H. (Hermann), Brentnall, A. (Adam), Brinton, L. (Louise), Broberg, P. (Per), Brock, I. W. (Ian W.), Brucker, S. Y. (Sara Y.), Burwinkel, B. (Barbara), Caldas, C. (Carlos), Caldes, T. (Trinidad), Campa, D. (Daniele), Canzian, F. (Federico), Carracedo, A. (Angel), Carter, B. D. (Brian D.), Castelao, J. E. (Jose E.), Chang-Claude, J. (Jenny), Chanock, S. J. (Stephen J.), Chenevix-Trench, G. (Georgia), Cheng, T. D. (Ting-Yuan David), Chin, S.-F. (Suet-Feung), Clarke, C. L. (Christine L.), Cordina-Duverger, E. (Emilie), Couch, F. J. (Fergus J.), Cox, D. G. (David G.), Cox, A. (Angela), Cross, S. S. (Simon S.), Czene, K. (Kamila), Daly, M. B. (Mary B.), Devilee, P. (Peter), Dunn, J. A. (Janet A.), Dunning, A. M. (Alison M.), Durcan, L. (Lorraine), Dwek, M. (Miriam), Earl, H. M. (Helena M.), Ekici, A. B. (Arif B.), Eliassen, A. H. (A. Heather), Ellberg, C. (Carolina), Engel, C. (Christoph), Eriksson, M. (Mikael), Evans, D. G. (D. Gareth), Figueroa, J. (Jonine), Flesch-Janys, D. (Dieter), Flyger, H. (Henrik), Gabrielson, M. (Marike), Gago-Dominguez, M. (Manuela), Galle, E. (Eva), Gapstur, S. M. (Susan M.), Garcia-Closas, M. (Montserrat), Garcia-Saenz, J. A. (Jose A.), Gaudet, M. M. (Mia M.), George, A. (Angela), Georgoulias, V. (Vassilios), Giles, G. G. (Graham G.), Glendon, G. (Gord), Goldgar, D. E. (David E.), Gonzalez-Neira, A. (Anna), Alnaes, G. I. (Grethe I. Grenaker), Grip, M. (Mervi), Guenel, P. (Pascal), Haeberle, L. (Lothar), Hahnen, E. (Eric), Haiman, C. A. (Christopher A.), Hakansson, N. (Niclas), Hall, P. (Per), Hamann, U. (Ute), Hankinson, S. (Susan), Harkness, E. F. (Elaine F.), Harrington, P. A. (Patricia A.), Hart, S. N. (Steven N.), Hartikainen, J. M. (Jaana M.), Hein, A. (Alexander), Hillemanns, P. (Peter), Hiller, L. (Louise), Holleczek, B. (Bernd), Hollestelle, A. (Antoinette), Hooning, M. J. (Maartje J.), Hoover, R. N. (Robert N.), Hopper, J. L. (John L.), Howell, A. (Anthony), Huang, G. (Guanmengqian), Humphreys, K. (Keith), Hunter, D. J. (David J.), Janni, W. (Wolfgang), John, E. M. (Esther M.), Jones, M. E. (Michael E.), Jukkola-Vuorinen, A. (Arja), Jung, A. (Audrey), Kaaks, R. (Rudolf), Kabisch, M. (Maria), Kaczmarek, K. (Katarzyna), Kerin, M. J. (Michael J.), Khan, S. (Sofia), Khusnutdinova, E. (Elza), Kiiski, J. I. (Johanna, I), Kitahara, C. M. (Cari M.), Knight, J. A. (Julia A.), Ko, Y.-D. (Yon-Dschun), Koppert, L. B. (Linetta B.), Kosma, V.-M. (Veli-Matti), Kraft, P. (Peter), Kristensen, V. N. (Vessela N.), Kruger, U. (Ute), Kuehl, T. (Tabea), Lambrechts, D. (Diether), Le Marchand, L. (Loic), Lee, E. (Eunjung), Lejbkowicz, F. (Flavio), Li, L. (Lian), Lindblom, A. (Annika), Lindstrom, S. (Sara), Linet, M. (Martha), Lissowska, J. (Jolanta), Lo, W.-Y. (Wing-Yee), Loibl, S. (Sibylle), Lubinski, J. (Jan), Lux, M. P. (Michael P.), MacInnis, R. J. (Robert J.), Maierthaler, M. (Melanie), Maishman, T. (Tom), Makalic, E. (Enes), Mannermaa, A. (Arto), Manoochehri, M. (Mehdi), Manoukian, S. (Siranoush), Margolin, S. (Sara), Martinez, M. E. (Maria Elena), Mavroudis, D. (Dimitrios), McLean, C. (Catriona), Meindl, A. (Alfons), Middha, P. (Pooja), Miller, N. (Nicola), Milne, R. L. (Roger L.), Moreno, F. (Fernando), Mulligan, A. M. (Anna Marie), Mulot, C. (Claire), Nassir, R. (Rami), Neuhausen, S. L. (Susan L.), Newman, W. T. (William T.), Nielsen, S. F. (Sune F.), Nordestgaard, B. G. (Borge G.), Norman, A. (Aaron), Olsson, H. (Hakan), Orr, N. (Nick), Pankratz, V. S. (V. Shane), Park-Simon, T.-W. (Tjoung-Won), Perez, J. I. (Jose I. A.), Perez-Barrios, C. (Clara), Peterlongo, P. (Paolo), Petridis, C. (Christos), Pinchev, M. (Mila), Prajzendanc, K. (Karoliona), Prentice, R. (Ross), Presneau, N. (Nadege), Prokofieva, D. (Darya), Pylkas, K. (Katri), Rack, B. (Brigitte), Radice, P. (Paolo), Ramachandran, D. (Dhanya), Rennert, G. (Gadi), Rennert, H. S. (Hedy S.), Rhenius, V. (Valerie), Romero, A. (Atocha), Roylance, R. (Rebecca), Saloustros, E. (Emmanouil), Sawyer, E. J. (Elinor J.), Schmidt, D. F. (Daniel F.), Schmutzler, R. K. (Rita K.), Schneeweiss, A. (Andreas), Schoemaker, M. J. (Minouk J.), Schumacher, F. (Fredrick), Schwentner, L. (Lukas), Scott, R. J. (Rodney J.), Scott, C. (Christopher), Seynaeve, C. (Caroline), Shah, M. (Mitul), Simard, J. (Jacques), Smeets, A. (Ann), Sohn, C. (Christof), Southey, M. C. (Melissa C.), Swerdlow, A. J. (Anthony J.), Talhouk, A. (Aline), Tamimi, R. M. (Rulla M.), Tapper, W. J. (William J.), Teixeira, M. R. (Manuel R.), Tengstrom, M. (Maria), Terry, M. B. (Mary Beth), Thoene, K. (Kathrin), Tollenaar, R. A. (Rob A. E. M.), Tomlinson, I. (Ian), Torres, D. (Diana), Truong, T. (Therese), Turman, C. (Constance), Turnbull, C. (Clare), Ulmer, H.-U. (Hans-Ulrich), Untch, M. (Michael), Vachon, C. (Celine), van Asperen, C. J. (Christi J.), van den Ouweland, A. M. (Ans M. W.), van Veen, E. M. (Elke M.), Wendt, C. (Camilla), Whittemore, A. S. (Alice S.), Willett, W. (Walter), Winqvist, R. (Robert), Wolk, A. (Alicja), Yang, X. R. (Xiaohong R.), Zhang, Y. (Yan), Easton, D. F. (Douglas F.), Fasching, P. A. (Peter A.), Nevanlinna, H. (Heli), Eccles, D. M. (Diana M.), Pharoah, P. D. (Paul D. P.), and Schmidt, M. K. (Marjanka K.)
Abstract: Background: We examined the associations between germline variants and breast cancer mortality using a large meta-analysis of women of European ancestry. Methods: Meta-analyses included summary estimates based on Cox models of twelve datasets using ~10.4 million variants for 96,661 women with breast cancer and 7697 events (breast cancer-specific deaths). Oestrogen receptor (ER)-specific analyses were based on 64,171 ER-positive (4116) and 16,172 ER-negative (2125) patients. We evaluated the probability of a signal to be a true positive using the Bayesian false discovery probability (BFDP). Results: We did not find any variant associated with breast cancer-specific mortality at P < 5 × 10−8. For ER-positive disease, the most significantly associated variant was chr7:rs4717568 (BFDP = 7%, P = 1.28 × 10−7, hazard ratio [HR] = 0.88, 95% confidence interval [CI] = 0.84–0.92); the closest gene is AUTS2. For ER-negative disease, the most significant variant was chr7:rs67918676 (BFDP = 11%, P = 1.38 × 10−7, HR = 1.27, 95% CI = 1.16–1.39); located within a long intergenic non-coding RNA gene (AC004009.3), close to the HOXA gene cluster. Conclusions: We uncovered germline variants on chromosome 7 at BFDP
Published: 2019

17. Germline variation at 8q24 and prostate cancer risk in men of European ancestry.

Author: Carter B.D., Kerns S., Ostrer H., Zhang H.-W., Cao G., Lin J., Li M., Feng N., Li J., He W., Guo X., Sun Z., Wang G., Guo J., Southey M.C., FitzGerald L.M., Marsden G., Gomez-Caamano A., Carballo A., Peleteiro P., Calvo P., Szulkin R., Llorca J., Dierssen-Sotos T., Gomez-Acebo I., Lin H.-Y., Ostrander E.A., Bisbjerg R., Klarskov P., Roder M.A., Iversen P., Holleczek B., Stegmaier C., Schnoeller T., Bohnert P., John E.M., Ost P., Teo S.-H., Gamulin M., Kulis T., Kastelan Z., Slavov C., Popov E., Van den Broeck T., Joniau S., Larkin S., Castelao J.E., Martinez M.E., van Schaik R.H.N., Xu J., Lindstrom S., Riboli E., Berry C., Siddiq A., Canzian F., Kolonel L.N., Le Marchand L., Freedman M., Cenee S., Sanchez M., Wiklund F., Chanock S.J., Easton D.F., Eeles R.A., Kote-Jarai Z., Conti D.V., Haiman C.A., Hutchinson A., Ling J., Papargiris M., Matejcic M., Saunders E.J., Dadaev T., Brook M.N., Wang K., Sheng X., Olama A.A.A., Schumacher F.R., Ingles S.A., Govindasami K., Benlloch S., Berndt S.I., Albanes D., Koutros S., Muir K., Stevens V.L., Gapstur S.M., Tangen C.M., Batra J., Clements J., Gronberg H., Pashayan N., Schleutker J., Wolk A., West C., Mucci L., Kraft P., Cancel-Tassin G., Sorensen K.D., Maehle L., Grindedal E.M., Strom S.S., Neal D.E., Hamdy F.C., Donovan J.L., Travis R.C., Hamilton R.J., Rosenstein B., Lu Y.-J., Giles G.G., Kibel A.S., Vega A., Bensen J.T., Kogevinas M., Penney K.L., Park J.Y., Stanford J.L., Cybulski C., Nordestgaard B.G., Brenner H., Maier C., Kim J., Teixeira M.R., Neuhausen S.L., De Ruyck K., Razack A., Newcomb L.F., Lessel D., Kaneva R., Usmani N., Claessens F., Townsend P.A., Dominguez M.G., Roobol M.J., Menegaux F., Khaw K.-T., Cannon-Albright L.A., Pandha H., Thibodeau S.N., Schaid D.J., Henderson B.E., Stern M.C., Thwaites A., Guy M., Whitmore I., Morgan A., Fisher C., Hazel S., Livni N., Cook M., Fachal L., Weinstein S., Beane Freeman L.E., Hoover R.N., Machiela M.J., Lophatananon A., Goodman P., Moya L., Srinivasan S., Kedda M.-A., Yeadon T., Eckert A., Eklund M., Cavalli-Bjoerkman C., Dunning A.M., Sipeky C., Hakansson N., Elliott R., Ranu H., Giovannucci E., Turman C., Hunter D.J., Cussenot O., Orntoft T.F., Lane A., Lewis S.J., Davis M., Key T.J., Brown P., Kulkarni G.S., Zlotta A.R., Fleshner N.E., Finelli A., Mao X., Marzec J., MacInnis R.J., Milne R., Hopper J.L., Aguado M., Bustamante M., Castano-Vinyals G., Gracia-Lavedan E., Cecchini L., Stampfer M., Ma J., Sellers T.A., Geybels M.S., Park H., Zachariah B., Kolb S., Wokolorczyk D., Jan Lubinski, Kluzniak W., Nielsen S.F., Weisher M., Cuk K., Vogel W., Luedeke M., Logothetis C.J., Paulo P., Cardoso M., Maia S., Silva M.P., Steele L., Ding Y.C., De Meerleer G., De Langhe S., Thierens H., Lim J., Tan M.H., Ong A.T., Lin D.W., Kachakova D., Mitkova A., Mitev V., Parliament M., Jenster G., Bangma C., Schroder F.H., Truong T., Koudou Y.A., Michael A., Kierzek A., Karlsson A., Broms M., Wu H., Aukim-Hastie C., Tillmans L., Riska S., McDonnell S.K., Dearnaley D., Spurdle A., Gardiner R., Hayes V., Butler L., Taylor R., Saunders P., Kujala P., Talala K., Taari K., Bentzen S., Hicks B., Vogt A., Cox A., George A., Toi A., Evans A., van der Kwast T.H., Imai T., Saito S., Zhao S.-C., Ren G., Zhang Y., Yu Y., Wu Y., Wu J., Zhou B., Pedersen J., Lobato-Busto R., Ruiz-Dominguez J.M., Mengual L., Alcaraz A., Pow-Sang J., Herkommer K., Vlahova A., Dikov T., Christova S., Carracedo A., Tretarre B., Rebillard X., Mulot C., Jan Adolfsson, Stattin P., Johansson J.-E., Martin R.M., Thompson I.M., Chambers S., Aitken J., Horvath L., Haynes A.-M., Tilley W., Risbridger G., Aly M., Nordstrom T., Pharoah P., Tammela T.L.J., Murtola T., Auvinen A., Burnet N., Barnett G., Andriole G., Klim A., Drake B.F., Borre M., Carter B.D., Kerns S., Ostrer H., Zhang H.-W., Cao G., Lin J., Li M., Feng N., Li J., He W., Guo X., Sun Z., Wang G., Guo J., Southey M.C., FitzGerald L.M., Marsden G., Gomez-Caamano A., Carballo A., Peleteiro P., Calvo P., Szulkin R., Llorca J., Dierssen-Sotos T., Gomez-Acebo I., Lin H.-Y., Ostrander E.A., Bisbjerg R., Klarskov P., Roder M.A., Iversen P., Holleczek B., Stegmaier C., Schnoeller T., Bohnert P., John E.M., Ost P., Teo S.-H., Gamulin M., Kulis T., Kastelan Z., Slavov C., Popov E., Van den Broeck T., Joniau S., Larkin S., Castelao J.E., Martinez M.E., van Schaik R.H.N., Xu J., Lindstrom S., Riboli E., Berry C., Siddiq A., Canzian F., Kolonel L.N., Le Marchand L., Freedman M., Cenee S., Sanchez M., Wiklund F., Chanock S.J., Easton D.F., Eeles R.A., Kote-Jarai Z., Conti D.V., Haiman C.A., Hutchinson A., Ling J., Papargiris M., Matejcic M., Saunders E.J., Dadaev T., Brook M.N., Wang K., Sheng X., Olama A.A.A., Schumacher F.R., Ingles S.A., Govindasami K., Benlloch S., Berndt S.I., Albanes D., Koutros S., Muir K., Stevens V.L., Gapstur S.M., Tangen C.M., Batra J., Clements J., Gronberg H., Pashayan N., Schleutker J., Wolk A., West C., Mucci L., Kraft P., Cancel-Tassin G., Sorensen K.D., Maehle L., Grindedal E.M., Strom S.S., Neal D.E., Hamdy F.C., Donovan J.L., Travis R.C., Hamilton R.J., Rosenstein B., Lu Y.-J., Giles G.G., Kibel A.S., Vega A., Bensen J.T., Kogevinas M., Penney K.L., Park J.Y., Stanford J.L., Cybulski C., Nordestgaard B.G., Brenner H., Maier C., Kim J., Teixeira M.R., Neuhausen S.L., De Ruyck K., Razack A., Newcomb L.F., Lessel D., Kaneva R., Usmani N., Claessens F., Townsend P.A., Dominguez M.G., Roobol M.J., Menegaux F., Khaw K.-T., Cannon-Albright L.A., Pandha H., Thibodeau S.N., Schaid D.J., Henderson B.E., Stern M.C., Thwaites A., Guy M., Whitmore I., Morgan A., Fisher C., Hazel S., Livni N., Cook M., Fachal L., Weinstein S., Beane Freeman L.E., Hoover R.N., Machiela M.J., Lophatananon A., Goodman P., Moya L., Srinivasan S., Kedda M.-A., Yeadon T., Eckert A., Eklund M., Cavalli-Bjoerkman C., Dunning A.M., Sipeky C., Hakansson N., Elliott R., Ranu H., Giovannucci E., Turman C., Hunter D.J., Cussenot O., Orntoft T.F., Lane A., Lewis S.J., Davis M., Key T.J., Brown P., Kulkarni G.S., Zlotta A.R., Fleshner N.E., Finelli A., Mao X., Marzec J., MacInnis R.J., Milne R., Hopper J.L., Aguado M., Bustamante M., Castano-Vinyals G., Gracia-Lavedan E., Cecchini L., Stampfer M., Ma J., Sellers T.A., Geybels M.S., Park H., Zachariah B., Kolb S., Wokolorczyk D., Jan Lubinski, Kluzniak W., Nielsen S.F., Weisher M., Cuk K., Vogel W., Luedeke M., Logothetis C.J., Paulo P., Cardoso M., Maia S., Silva M.P., Steele L., Ding Y.C., De Meerleer G., De Langhe S., Thierens H., Lim J., Tan M.H., Ong A.T., Lin D.W., Kachakova D., Mitkova A., Mitev V., Parliament M., Jenster G., Bangma C., Schroder F.H., Truong T., Koudou Y.A., Michael A., Kierzek A., Karlsson A., Broms M., Wu H., Aukim-Hastie C., Tillmans L., Riska S., McDonnell S.K., Dearnaley D., Spurdle A., Gardiner R., Hayes V., Butler L., Taylor R., Saunders P., Kujala P., Talala K., Taari K., Bentzen S., Hicks B., Vogt A., Cox A., George A., Toi A., Evans A., van der Kwast T.H., Imai T., Saito S., Zhao S.-C., Ren G., Zhang Y., Yu Y., Wu Y., Wu J., Zhou B., Pedersen J., Lobato-Busto R., Ruiz-Dominguez J.M., Mengual L., Alcaraz A., Pow-Sang J., Herkommer K., Vlahova A., Dikov T., Christova S., Carracedo A., Tretarre B., Rebillard X., Mulot C., Jan Adolfsson, Stattin P., Johansson J.-E., Martin R.M., Thompson I.M., Chambers S., Aitken J., Horvath L., Haynes A.-M., Tilley W., Risbridger G., Aly M., Nordstrom T., Pharoah P., Tammela T.L.J., Murtola T., Auvinen A., Burnet N., Barnett G., Andriole G., Klim A., Drake B.F., and Borre M.
Abstract: Chromosome 8q24 is a susceptibility locus for multiple cancers, including prostate cancer. Here we combine genetic data across the 8q24 susceptibility region from 71,535 prostate cancer cases and 52,935 controls of European ancestry to define the overall contribution of germline variation at 8q24 to prostate cancer risk. We identify 12 independent risk signals for prostate cancer (p < 4.28 x 10-15), including three risk variants that have yet to be reported. From a polygenic risk score (PRS) model, derived to assess the cumulative effect of risk variants at 8q24, men in the top 1% of the PRS have a 4-fold (95%CI = 3.62-4.40) greater risk compared to the population average. These 12 variants account for ~25% of what can be currently explained of the familial risk of prostate cancer by known genetic risk factors. These findings highlight the overwhelming contribution of germline variation at 8q24 on prostate cancer risk which has implications for population risk stratification.Copyright © 2018, The Author(s).
Published: 2019

18. Genome-wide association study of germline variants and breast cancer-specific mortality.

Author: Garcia-Closas M., Moreno F., Mulligan A.M., Mulot C., Nassir R., Neuhausen S.L., Newman W.T., Nielsen S.F., Nordestgaard B.G., Norman A., Olsson H., Orr N., Pankratz V.S., Park-Simon T.-W., Perez J.I.A., Perez-Barrios C., Peterlongo P., Petridis C., Pinchev M., Prajzendanc K., Prentice R., Presneau N., Prokofieva D., Pylkas K., Rack B., Radice P., Ramachandran D., Rennert G., Rennert H.S., Rhenius V., Romero A., Roylance R., Saloustros E., Sawyer E.J., Schmidt D.F., Schmutzler R.K., Schneeweiss A., Schoemaker M.J., Schumacher F., Schwentner L., Scott R.J., Scott C., Seynaeve C., Shah M., Simard J., Smeets A., Sohn C., Southey M.C., Swerdlow A.J., Talhouk A., Tamimi R.M., Tapper W.J., Teixeira M.R., Tengstrom M., Terry M.B., Thone K., Tollenaar R.A.E.M., Tomlinson I., Torres D., Truong T., Turman C., Turnbull C., Ulmer H.-U., Untch M., Vachon C., van Asperen C.J., van den Ouweland A.M.W., van Veen E.M., Wendt C., Whittemore A.S., Willett W., Winqvist R., Wolk A., Yang X.R., Zhang Y., Easton D.F., Fasching P.A., Nevanlinna H., Eccles D.M., Pharoah P.D.P., Schmidt M.K., Escala-Garcia M., Guo Q., Dork T., Canisius S., Keeman R., Dennis J., Beesley J., Lecarpentier J., Bolla M.K., Wang Q., Abraham J., Andrulis I.L., Anton-Culver H., Arndt V., Auer P.L., Beckmann M.W., Behrens S., Benitez J., Bermisheva M., Bernstein L., Blomqvist C., Boeckx B., Bojesen S.E., Bonanni B., Borresen-Dale A.-L., Brauch H., Brenner H., Brentnall A., Brinton L., Broberg P., Brock I.W., Brucker S.Y., Burwinkel B., Caldas C., Caldes T., Campa D., Canzian F., Carracedo A., Carter B.D., Castelao J.E., Chang-Claude J., Chanock S.J., Chenevix-Trench G., Cheng T.-Y.D., Chin S.-F., Clarke C.L., Cordina-Duverger E., Couch F.J., Cox D.G., Cox A., Cross S.S., Czene K., Daly M.B., Devilee P., Dunn J.A., Dunning A.M., Durcan L., Dwek M., Earl H.M., Ekici A.B., Eliassen A.H., Ellberg C., Engel C., Eriksson M., Evans D.G., Figueroa J., Flesch-Janys D., Flyger H., Gabrielson M., Gago-Dominguez M., Galle E., Gapstur S.M., Garcia-Saenz J.A., Gaudet M.M., George A., Georgoulias V., Giles G.G., Glendon G., Goldgar D.E., Gonzalez-Neira A., Alnaes G.I.G., Grip M., Guenel P., Haeberle L., Hahnen E., Haiman C.A., Hakansson N., Hall P., Hamann U., Hankinson S., Harkness E.F., Harrington P.A., Hart S.N., Hartikainen J.M., Hein A., Hillemanns P., Hiller L., Holleczek B., Hollestelle A., Hooning M.J., Hoover R.N., Hopper J.L., Howell A., Huang G., Humphreys K., Hunter D.J., Janni W., John E.M., Jones M.E., Jukkola-Vuorinen A., Jung A., Kaaks R., Kabisch M., Kaczmarek K., Kerin M.J., Khan S., Khusnutdinova E., Kiiski J.I., Kitahara C.M., Knight J.A., Ko Y.-D., Koppert L.B., Kosma V.-M., Kraft P., Kristensen V.N., Kruger U., Kuhl T., Lambrechts D., Le Marchand L., Lee E., Lejbkowicz F., Li L., Lindblom A., Lindstrom S., Linet M., Lissowska J., Lo W.-Y., Loibl S., Lubinski J., Lux M.P., MacInnis R.J., Maierthaler M., Maishman T., Makalic E., Mannermaa A., Manoochehri M., Manoukian S., Margolin S., Martinez M.E., Mavroudis D., McLean C., Meindl A., Middha P., Miller N., Milne R.L., Garcia-Closas M., Moreno F., Mulligan A.M., Mulot C., Nassir R., Neuhausen S.L., Newman W.T., Nielsen S.F., Nordestgaard B.G., Norman A., Olsson H., Orr N., Pankratz V.S., Park-Simon T.-W., Perez J.I.A., Perez-Barrios C., Peterlongo P., Petridis C., Pinchev M., Prajzendanc K., Prentice R., Presneau N., Prokofieva D., Pylkas K., Rack B., Radice P., Ramachandran D., Rennert G., Rennert H.S., Rhenius V., Romero A., Roylance R., Saloustros E., Sawyer E.J., Schmidt D.F., Schmutzler R.K., Schneeweiss A., Schoemaker M.J., Schumacher F., Schwentner L., Scott R.J., Scott C., Seynaeve C., Shah M., Simard J., Smeets A., Sohn C., Southey M.C., Swerdlow A.J., Talhouk A., Tamimi R.M., Tapper W.J., Teixeira M.R., Tengstrom M., Terry M.B., Thone K., Tollenaar R.A.E.M., Tomlinson I., Torres D., Truong T., Turman C., Turnbull C., Ulmer H.-U., Untch M., Vachon C., van Asperen C.J., van den Ouweland A.M.W., van Veen E.M., Wendt C., Whittemore A.S., Willett W., Winqvist R., Wolk A., Yang X.R., Zhang Y., Easton D.F., Fasching P.A., Nevanlinna H., Eccles D.M., Pharoah P.D.P., Schmidt M.K., Escala-Garcia M., Guo Q., Dork T., Canisius S., Keeman R., Dennis J., Beesley J., Lecarpentier J., Bolla M.K., Wang Q., Abraham J., Andrulis I.L., Anton-Culver H., Arndt V., Auer P.L., Beckmann M.W., Behrens S., Benitez J., Bermisheva M., Bernstein L., Blomqvist C., Boeckx B., Bojesen S.E., Bonanni B., Borresen-Dale A.-L., Brauch H., Brenner H., Brentnall A., Brinton L., Broberg P., Brock I.W., Brucker S.Y., Burwinkel B., Caldas C., Caldes T., Campa D., Canzian F., Carracedo A., Carter B.D., Castelao J.E., Chang-Claude J., Chanock S.J., Chenevix-Trench G., Cheng T.-Y.D., Chin S.-F., Clarke C.L., Cordina-Duverger E., Couch F.J., Cox D.G., Cox A., Cross S.S., Czene K., Daly M.B., Devilee P., Dunn J.A., Dunning A.M., Durcan L., Dwek M., Earl H.M., Ekici A.B., Eliassen A.H., Ellberg C., Engel C., Eriksson M., Evans D.G., Figueroa J., Flesch-Janys D., Flyger H., Gabrielson M., Gago-Dominguez M., Galle E., Gapstur S.M., Garcia-Saenz J.A., Gaudet M.M., George A., Georgoulias V., Giles G.G., Glendon G., Goldgar D.E., Gonzalez-Neira A., Alnaes G.I.G., Grip M., Guenel P., Haeberle L., Hahnen E., Haiman C.A., Hakansson N., Hall P., Hamann U., Hankinson S., Harkness E.F., Harrington P.A., Hart S.N., Hartikainen J.M., Hein A., Hillemanns P., Hiller L., Holleczek B., Hollestelle A., Hooning M.J., Hoover R.N., Hopper J.L., Howell A., Huang G., Humphreys K., Hunter D.J., Janni W., John E.M., Jones M.E., Jukkola-Vuorinen A., Jung A., Kaaks R., Kabisch M., Kaczmarek K., Kerin M.J., Khan S., Khusnutdinova E., Kiiski J.I., Kitahara C.M., Knight J.A., Ko Y.-D., Koppert L.B., Kosma V.-M., Kraft P., Kristensen V.N., Kruger U., Kuhl T., Lambrechts D., Le Marchand L., Lee E., Lejbkowicz F., Li L., Lindblom A., Lindstrom S., Linet M., Lissowska J., Lo W.-Y., Loibl S., Lubinski J., Lux M.P., MacInnis R.J., Maierthaler M., Maishman T., Makalic E., Mannermaa A., Manoochehri M., Manoukian S., Margolin S., Martinez M.E., Mavroudis D., McLean C., Meindl A., Middha P., Miller N., and Milne R.L.
Abstract: Background: We examined the associations between germline variants and breast cancer mortality using a large meta-analysis of women of European ancestry. Method(s): Meta-analyses included summary estimates based on Cox models of twelve datasets using ~10.4 million variants for 96,661 women with breast cancer and 7697 events (breast cancer-specific deaths). Oestrogen receptor (ER)-specific analyses were based on 64,171 ER-positive (4116) and 16,172 ER-negative (2125) patients. We evaluated the probability of a signal to be a true positive using the Bayesian false discovery probability (BFDP). Result(s): We did not find any variant associated with breast cancer-specific mortality at P < 5 x 10-8. For ER-positive disease, the most significantly associated variant was chr7:rs4717568 (BFDP = 7%, P = 1.28 x 10-7, hazard ratio [HR] = 0.88, 95% confidence interval [CI] = 0.84-0.92); the closest gene is AUTS2. For ER-negative disease, the most significant variant was chr7:rs67918676 (BFDP = 11%, P = 1.38 x 10-7, HR = 1.27, 95% CI = 1.16-1.39); located within a long intergenic non-coding RNA gene (AC004009.3), close to the HOXA gene cluster. Conclusion(s): We uncovered germline variants on chromosome 7 at BFDP < 15% close to genes for which there is biological evidence related to breast cancer outcome. However, the paucity of variants associated with mortality at genome-wide significance underpins the challenge in providing genetic-based individualised prognostic information for breast cancer patients.Copyright © 2019, The Author(s).
Published: 2019

19. Polygenic Risk Scores for Prediction of Breast Cancer and Breast Cancer Subtypes.

Author: Giles G.G., Bonanni B., Pinchev M., Plaseska-Karanfilska D., Polley E.C., Prentice R., Presneau N., Prokofyeva D., Purrington K., Pylkas K., Rack B., Radice P., Rau-Murthy R., Rennert G., Rennert H.S., Rhenius V., Robson M., Romero A., Ruddy K.J., Ruebner M., Saloustros E., Sandler D.P., Sawyer E.J., Schmidt D.F., Schmutzler R.K., Schneeweiss A., Schoemaker M.J., Schumacher F., Schurmann P., Schwentner L., Scott C., Scott R.J., Seynaeve C., Shah M., Sherman M.E., Shrubsole M.J., Shu X.-O., Slager S., Smeets A., Sohn C., Soucy P., Southey M.C., Spinelli J.J., Stegmaier C., Stone J., Swerdlow A.J., Tamimi R.M., Tapper W.J., Taylor J.A., Terry M.B., Thone K., Tollenaar R.A.E.M., Tomlinson I., Truong T., Tzardi M., Ulmer H.-U., Untch M., Vachon C.M., van Veen E.M., Vijai J., Weinberg C.R., Wendt C., Whittemore A.S., Wildiers H., Willett W., Winqvist R., Wolk A., Yang X.R., Yannoukakos D., Zhang Y., Zheng W., Ziogas A., Dunning A.M., Thompson D.J., Chenevix-Trench G., Chang-Claude J., Schmidt M.K., Hall P., Milne R.L., Pharoah P.D.P., Antoniou A.C., Chatterjee N., Kraft P., Garcia-Closas M., Simard J., Easton D.F., Allen J., Mavaddat N., Michailidou K., Dennis J., Lush M., Fachal L., Lee A., Tyrer J.P., Chen T.-H., Wang Q., Bolla M.K., Yang X., Adank M.A., Ahearn T., Aittomaki K., Andrulis I.L., Anton-Culver H., Antonenkova N.N., Arndt V., Aronson K.J., Auer P.L., Auvinen P., Barrdahl M., Beane Freeman L.E., Beckmann M.W., Behrens S., Benitez J., Bermisheva M., Bernstein L., Blomqvist C., Bogdanova N.V., Bojesen S.E., Borresen-Dale A.-L., Brauch H., Bremer M., Brenner H., Brentnall A., Brock I.W., Brooks-Wilson A., Brucker S.Y., Bruning T., Burwinkel B., Campa D., Carter B.D., Castelao J.E., Chanock S.J., Chlebowski R., Christiansen H., Clarke C.L., Collee J.M., Cordina-Duverger E., Cornelissen S., Couch F.J., Cox A., Cross S.S., Czene K., Daly M.B., Devilee P., Dork T., dos-Santos-Silva I., Dumont M., Durcan L., Dwek M., Eccles D.M., Ekici A.B., Eliassen A.H., Ellberg C., Engel C., Eriksson M., Evans D.G., Fasching P.A., Figueroa J., Fletcher O., Flyger H., Forsti A., Fritschi L., Gabrielson M., Gago-Dominguez M., Gapstur S.M., Garcia-Saenz J.A., Gaudet M.M., Georgoulias V., Gilyazova I.R., Glendon G., Goldberg M.S., Goldgar D.E., Gonzalez-Neira A., Grenaker Alnaes G.I., Grip M., Gronwald J., Grundy A., Guenel P., Haeberle L., Hahnen E., Haiman C.A., Hakansson N., Hamann U., Hankinson S.E., Harkness E.F., Hart S.N., He W., Hein A., Heyworth J., Hillemanns P., Hollestelle A., Hooning M.J., Hoover R.N., Hopper J.L., Howell A., Huang G., Humphreys K., Hunter D.J., Jakimovska M., Jakubowska A., Janni W., John E.M., Johnson N., Jones M.E., Jukkola-Vuorinen A., Jung A., Kaaks R., Kaczmarek K., Kataja V., Keeman R., Kerin M.J., Khusnutdinova E., Kiiski J.I., Knight J.A., Ko Y.-D., Kosma V.-M., Koutros S., Kristensen V.N., Kruger U., Kuhl T., Lambrechts D., Le Marchand L., Lee E., Lejbkowicz F., Lilyquist J., Lindblom A., Lindstrom S., Lissowska J., Lo W.-Y., Loibl S., Long J., Lubinski J., Lux M.P., MacInnis R.J., Maishman T., Makalic E., Maleva Kostovska I., Mannermaa A., Manoukian S., Margolin S., Martens J.W.M., Martinez M.E., Mavroudis D., McLean C., Meindl A., Menon U., Middha P., Miller N., Moreno F., Mulligan A.M., Mulot C., Munoz-Garzon V.M., Neuhausen S.L., Nevanlinna H., Neven P., Newman W.G., Nielsen S.F., Nordestgaard B.G., Norman A., Offit K., Olson J.E., Olsson H., Orr N., Pankratz V.S., Park-Simon T.-W., Perez J.I.A., Perez-Barrios C., Peterlongo P., Peto J., Giles G.G., Bonanni B., Pinchev M., Plaseska-Karanfilska D., Polley E.C., Prentice R., Presneau N., Prokofyeva D., Purrington K., Pylkas K., Rack B., Radice P., Rau-Murthy R., Rennert G., Rennert H.S., Rhenius V., Robson M., Romero A., Ruddy K.J., Ruebner M., Saloustros E., Sandler D.P., Sawyer E.J., Schmidt D.F., Schmutzler R.K., Schneeweiss A., Schoemaker M.J., Schumacher F., Schurmann P., Schwentner L., Scott C., Scott R.J., Seynaeve C., Shah M., Sherman M.E., Shrubsole M.J., Shu X.-O., Slager S., Smeets A., Sohn C., Soucy P., Southey M.C., Spinelli J.J., Stegmaier C., Stone J., Swerdlow A.J., Tamimi R.M., Tapper W.J., Taylor J.A., Terry M.B., Thone K., Tollenaar R.A.E.M., Tomlinson I., Truong T., Tzardi M., Ulmer H.-U., Untch M., Vachon C.M., van Veen E.M., Vijai J., Weinberg C.R., Wendt C., Whittemore A.S., Wildiers H., Willett W., Winqvist R., Wolk A., Yang X.R., Yannoukakos D., Zhang Y., Zheng W., Ziogas A., Dunning A.M., Thompson D.J., Chenevix-Trench G., Chang-Claude J., Schmidt M.K., Hall P., Milne R.L., Pharoah P.D.P., Antoniou A.C., Chatterjee N., Kraft P., Garcia-Closas M., Simard J., Easton D.F., Allen J., Mavaddat N., Michailidou K., Dennis J., Lush M., Fachal L., Lee A., Tyrer J.P., Chen T.-H., Wang Q., Bolla M.K., Yang X., Adank M.A., Ahearn T., Aittomaki K., Andrulis I.L., Anton-Culver H., Antonenkova N.N., Arndt V., Aronson K.J., Auer P.L., Auvinen P., Barrdahl M., Beane Freeman L.E., Beckmann M.W., Behrens S., Benitez J., Bermisheva M., Bernstein L., Blomqvist C., Bogdanova N.V., Bojesen S.E., Borresen-Dale A.-L., Brauch H., Bremer M., Brenner H., Brentnall A., Brock I.W., Brooks-Wilson A., Brucker S.Y., Bruning T., Burwinkel B., Campa D., Carter B.D., Castelao J.E., Chanock S.J., Chlebowski R., Christiansen H., Clarke C.L., Collee J.M., Cordina-Duverger E., Cornelissen S., Couch F.J., Cox A., Cross S.S., Czene K., Daly M.B., Devilee P., Dork T., dos-Santos-Silva I., Dumont M., Durcan L., Dwek M., Eccles D.M., Ekici A.B., Eliassen A.H., Ellberg C., Engel C., Eriksson M., Evans D.G., Fasching P.A., Figueroa J., Fletcher O., Flyger H., Forsti A., Fritschi L., Gabrielson M., Gago-Dominguez M., Gapstur S.M., Garcia-Saenz J.A., Gaudet M.M., Georgoulias V., Gilyazova I.R., Glendon G., Goldberg M.S., Goldgar D.E., Gonzalez-Neira A., Grenaker Alnaes G.I., Grip M., Gronwald J., Grundy A., Guenel P., Haeberle L., Hahnen E., Haiman C.A., Hakansson N., Hamann U., Hankinson S.E., Harkness E.F., Hart S.N., He W., Hein A., Heyworth J., Hillemanns P., Hollestelle A., Hooning M.J., Hoover R.N., Hopper J.L., Howell A., Huang G., Humphreys K., Hunter D.J., Jakimovska M., Jakubowska A., Janni W., John E.M., Johnson N., Jones M.E., Jukkola-Vuorinen A., Jung A., Kaaks R., Kaczmarek K., Kataja V., Keeman R., Kerin M.J., Khusnutdinova E., Kiiski J.I., Knight J.A., Ko Y.-D., Kosma V.-M., Koutros S., Kristensen V.N., Kruger U., Kuhl T., Lambrechts D., Le Marchand L., Lee E., Lejbkowicz F., Lilyquist J., Lindblom A., Lindstrom S., Lissowska J., Lo W.-Y., Loibl S., Long J., Lubinski J., Lux M.P., MacInnis R.J., Maishman T., Makalic E., Maleva Kostovska I., Mannermaa A., Manoukian S., Margolin S., Martens J.W.M., Martinez M.E., Mavroudis D., McLean C., Meindl A., Menon U., Middha P., Miller N., Moreno F., Mulligan A.M., Mulot C., Munoz-Garzon V.M., Neuhausen S.L., Nevanlinna H., Neven P., Newman W.G., Nielsen S.F., Nordestgaard B.G., Norman A., Offit K., Olson J.E., Olsson H., Orr N., Pankratz V.S., Park-Simon T.-W., Perez J.I.A., Perez-Barrios C., Peterlongo P., and Peto J.
Abstract: Stratification of women according to their risk of breast cancer based on polygenic risk scores (PRSs) could improve screening and prevention strategies. Our aim was to develop PRSs, optimized for prediction of estrogen receptor (ER)-specific disease, from the largest available genome-wide association dataset and to empirically validate the PRSs in prospective studies. The development dataset comprised 94,075 case subjects and 75,017 control subjects of European ancestry from 69 studies, divided into training and validation sets. Samples were genotyped using genome-wide arrays, and single-nucleotide polymorphisms (SNPs) were selected by stepwise regression or lasso penalized regression. The best performing PRSs were validated in an independent test set comprising 11,428 case subjects and 18,323 control subjects from 10 prospective studies and 190,040 women from UK Biobank (3,215 incident breast cancers). For the best PRSs (313 SNPs), the odds ratio for overall disease per 1 standard deviation in ten prospective studies was 1.61 (95%CI: 1.57-1.65) with area under receiver-operator curve (AUC) = 0.630 (95%CI: 0.628-0.651). The lifetime risk of overall breast cancer in the top centile of the PRSs was 32.6%. Compared with women in the middle quintile, those in the highest 1% of risk had 4.37- and 2.78-fold risks, and those in the lowest 1% of risk had 0.16- and 0.27-fold risks, of developing ER-positive and ER-negative disease, respectively. Goodness-of-fit tests indicated that this PRS was well calibrated and predicts disease risk accurately in the tails of the distribution. This PRS is a powerful and reliable predictor of breast cancer risk that may improve breast cancer prevention programs.Copyright © 2018 The Authors
Published: 2019

20. Erratum to: Germline variation at 8q24 and prostate cancer risk in men of European ancestry (Nature Communications, (2018), 9, 1, (4616), 10.1038/s41467-018-06863-1).

Author: Wang G., Lessel D., Kaneva R., Usmani N., Kastelan Z., Slavov C., Popov E., Van den Broeck T., Joniau S., Larkin S., Castelao J.E., Martinez M.E., van Schaik R.H.N., Xu J., Lindstrom S., Riboli E., Berry C., Siddiq A., Canzian F., Kolonel L.N., Le Marchand L., Freedman M., Cenee S., Sanchez M., Wiklund F., Chanock S.J., Easton D.F., Eeles R.A., Kote-Jarai Z., Conti D.V., Haiman C.A., Hutchinson A., Ling J., Papargiris M., Matejcic M., Saunders E.J., Dadaev T., Brook M.N., Wang K., Sheng X., Olama A.A.A., Schumacher F.R., Ingles S.A., Govindasami K., Benlloch S., Berndt S.I., Albanes D., Koutros S., Muir K., Stevens V.L., Gapstur S.M., Tangen C.M., Batra J., Clements J., Gronberg H., Pashayan N., Schleutker J., Wolk A., West C., Mucci L., Kraft P., Cancel-Tassin G., Sorensen K.D., Maehle L., Grindedal E.M., Strom S.S., Neal D.E., Hamdy F.C., Donovan J.L., Travis R.C., Hamilton R.J., Rosenstein B., Lu Y.-J., Giles G.G., Kibel A.S., Vega A., Bensen J.T., Kogevinas M., Penney K.L., Park J.Y., Stanford J.L., Cybulski C., Nordestgaard B.G., Brenner H., Maier C., Kim J., Teixeira M.R., Neuhausen S.L., De Ruyck K., Razack A., Newcomb L.F., Claessens F., Townsend P.A., Gago-Dominguez M., Roobol M.J., Menegaux F., Khaw K.-T., Cannon-Albright L.A., Pandha H., Thibodeau S.N., Schaid D.J., Henderson B.E., Stern M.C., Thwaites A., Guy M., Whitmore I., Morgan A., Fisher C., Hazel S., Livni N., Cook M., Fachal L., Weinstein S., Beane Freeman L.E., Hoover R.N., Machiela M.J., Lophatananon A., Carter B.D., Goodman P., Moya L., Srinivasan S., Kedda M.-A., Yeadon T., Eckert A., Eklund M., Cavalli-Bjoerkman C., Dunning A.M., Sipeky C., Hakansson N., Elliott R., Ranu H., Giovannucci E., Turman C., Hunter D.J., Cussenot O., Orntoft T.F., Lane A., Lewis S.J., Davis M., Key T.J., Brown P., Kulkarni G.S., Zlotta A.R., Fleshner N.E., Finelli A., Mao X., Marzec J., MacInnis R.J., Milne R., Hopper J.L., Aguado M., Bustamante M., Castano-Vinyals G., Gracia-Lavedan E., Cecchini L., Stampfer M., Ma J., Sellers T.A., Geybels M.S., Park H., Zachariah B., Kolb S., Wokolorczyk D., Lubinski J., Kluzniak W., Nielsen S.F., Weisher M., Cuk K., Vogel W., Luedeke M., Logothetis C.J., Paulo P., Cardoso M., Maia S., Silva M.P., Steele L., Ding Y.C., De Meerleer G., De Langhe S., Thierens H., Lim J., Tan M.H., Ong A.T., Lin D.W., Kachakova D., Mitkova A., Mitev V., Parliament M., Jenster G., Bangma C., Schroder F.H., Truong T., Koudou Y.A., Michael A., Kierzek A., Karlsson A., Broms M., Wu H., Aukim-Hastie C., Tillmans L., Riska S., McDonnell S.K., Dearnaley D., Spurdle A., Gardiner R., Hayes V., Butler L., Taylor R., Saunders P., Kujala P., Talala K., Taari K., Bentzen S., Hicks B., Vogt A., Cox A., George A., Toi A., Evans A., van der Kwast T.H., Imai T., Saito S., Zhao S.-C., Ren G., Zhang Y., Yu Y., Wu Y., Wu J., Zhou B., Pedersen J., Lobato-Busto R., Ruiz-Dominguez J.M., Mengual L., Alcaraz A., Pow-Sang J., Herkommer K., Vlahova A., Dikov T., Christova S., Carracedo A., Tretarre B., Rebillard X., Mulot C., Adolfsson J., Stattin P., Johansson J.-E., Martin R.M., Thompson I.M., Chambers S., Aitken J., Horvath L., Haynes A.-M., Tilley W., Risbridger G., Aly M., Nordstrom T., Pharoah P., Tammela T.L.J., Murtola T., Auvinen A., Burnet N., Barnett G., Andriole G., Klim A., Drake B.F., Borre M., Kerns S., Ostrer H., Zhang H.-W., Cao G., Lin J., Li M., Feng N., Li J., He W., Guo X., Sun Z., Guo J., Southey M.C., FitzGerald L.M., Marsden G., Gomez-Caamano A., Carballo A., Peleteiro P., Calvo P., Szulkin R., Llorca J., Dierssen-Sotos T., Gomez-Acebo I., Lin H.-Y., Ostrander E.A., Bisbjerg R., Klarskov P., Roder M.A., Iversen P., Holleczek B., Stegmaier C., Schnoeller T., Bohnert P., John E.M., Ost P., Teo S.-H., Gamulin M., Kulis T., Wang G., Lessel D., Kaneva R., Usmani N., Kastelan Z., Slavov C., Popov E., Van den Broeck T., Joniau S., Larkin S., Castelao J.E., Martinez M.E., van Schaik R.H.N., Xu J., Lindstrom S., Riboli E., Berry C., Siddiq A., Canzian F., Kolonel L.N., Le Marchand L., Freedman M., Cenee S., Sanchez M., Wiklund F., Chanock S.J., Easton D.F., Eeles R.A., Kote-Jarai Z., Conti D.V., Haiman C.A., Hutchinson A., Ling J., Papargiris M., Matejcic M., Saunders E.J., Dadaev T., Brook M.N., Wang K., Sheng X., Olama A.A.A., Schumacher F.R., Ingles S.A., Govindasami K., Benlloch S., Berndt S.I., Albanes D., Koutros S., Muir K., Stevens V.L., Gapstur S.M., Tangen C.M., Batra J., Clements J., Gronberg H., Pashayan N., Schleutker J., Wolk A., West C., Mucci L., Kraft P., Cancel-Tassin G., Sorensen K.D., Maehle L., Grindedal E.M., Strom S.S., Neal D.E., Hamdy F.C., Donovan J.L., Travis R.C., Hamilton R.J., Rosenstein B., Lu Y.-J., Giles G.G., Kibel A.S., Vega A., Bensen J.T., Kogevinas M., Penney K.L., Park J.Y., Stanford J.L., Cybulski C., Nordestgaard B.G., Brenner H., Maier C., Kim J., Teixeira M.R., Neuhausen S.L., De Ruyck K., Razack A., Newcomb L.F., Claessens F., Townsend P.A., Gago-Dominguez M., Roobol M.J., Menegaux F., Khaw K.-T., Cannon-Albright L.A., Pandha H., Thibodeau S.N., Schaid D.J., Henderson B.E., Stern M.C., Thwaites A., Guy M., Whitmore I., Morgan A., Fisher C., Hazel S., Livni N., Cook M., Fachal L., Weinstein S., Beane Freeman L.E., Hoover R.N., Machiela M.J., Lophatananon A., Carter B.D., Goodman P., Moya L., Srinivasan S., Kedda M.-A., Yeadon T., Eckert A., Eklund M., Cavalli-Bjoerkman C., Dunning A.M., Sipeky C., Hakansson N., Elliott R., Ranu H., Giovannucci E., Turman C., Hunter D.J., Cussenot O., Orntoft T.F., Lane A., Lewis S.J., Davis M., Key T.J., Brown P., Kulkarni G.S., Zlotta A.R., Fleshner N.E., Finelli A., Mao X., Marzec J., MacInnis R.J., Milne R., Hopper J.L., Aguado M., Bustamante M., Castano-Vinyals G., Gracia-Lavedan E., Cecchini L., Stampfer M., Ma J., Sellers T.A., Geybels M.S., Park H., Zachariah B., Kolb S., Wokolorczyk D., Lubinski J., Kluzniak W., Nielsen S.F., Weisher M., Cuk K., Vogel W., Luedeke M., Logothetis C.J., Paulo P., Cardoso M., Maia S., Silva M.P., Steele L., Ding Y.C., De Meerleer G., De Langhe S., Thierens H., Lim J., Tan M.H., Ong A.T., Lin D.W., Kachakova D., Mitkova A., Mitev V., Parliament M., Jenster G., Bangma C., Schroder F.H., Truong T., Koudou Y.A., Michael A., Kierzek A., Karlsson A., Broms M., Wu H., Aukim-Hastie C., Tillmans L., Riska S., McDonnell S.K., Dearnaley D., Spurdle A., Gardiner R., Hayes V., Butler L., Taylor R., Saunders P., Kujala P., Talala K., Taari K., Bentzen S., Hicks B., Vogt A., Cox A., George A., Toi A., Evans A., van der Kwast T.H., Imai T., Saito S., Zhao S.-C., Ren G., Zhang Y., Yu Y., Wu Y., Wu J., Zhou B., Pedersen J., Lobato-Busto R., Ruiz-Dominguez J.M., Mengual L., Alcaraz A., Pow-Sang J., Herkommer K., Vlahova A., Dikov T., Christova S., Carracedo A., Tretarre B., Rebillard X., Mulot C., Adolfsson J., Stattin P., Johansson J.-E., Martin R.M., Thompson I.M., Chambers S., Aitken J., Horvath L., Haynes A.-M., Tilley W., Risbridger G., Aly M., Nordstrom T., Pharoah P., Tammela T.L.J., Murtola T., Auvinen A., Burnet N., Barnett G., Andriole G., Klim A., Drake B.F., Borre M., Kerns S., Ostrer H., Zhang H.-W., Cao G., Lin J., Li M., Feng N., Li J., He W., Guo X., Sun Z., Guo J., Southey M.C., FitzGerald L.M., Marsden G., Gomez-Caamano A., Carballo A., Peleteiro P., Calvo P., Szulkin R., Llorca J., Dierssen-Sotos T., Gomez-Acebo I., Lin H.-Y., Ostrander E.A., Bisbjerg R., Klarskov P., Roder M.A., Iversen P., Holleczek B., Stegmaier C., Schnoeller T., Bohnert P., John E.M., Ost P., Teo S.-H., Gamulin M., and Kulis T.
Abstract: The original version of this Article contained an error in the spelling of the author Manuela Gago-Dominguez, which was incorrectly given as Manuela G. Dominguez. This has now been corrected in both the PDF and HTML versions of the Article.Copyright © 2019, The Author(s).
Published: 2019

21. Genome-wide association study of germline variants and breast cancer-specific mortality

Author: Escala-Garcia, M, Guo, Q, Doerk, T, Canisius, S, Keeman, R, Dennis, J, Beesley, J, Lecarpentier, J, Bolla, MK, Wang, Q, Abraham, J, Andrulis, IL, Anton-Culver, H, Arndt, V, Auer, PL, Beckmann, MW, Behrens, S, Benitez, J, Bermisheva, M, Bernstein, L, Blomqvist, C, Boeckx, B, Bojesen, SE, Bonanni, B, Borresen-Dale, A-L, Brauch, H, Brenner, H, Brentnall, A, Brinton, L, Broberg, P, Brock, IW, Brucker, SY, Burwinkel, B, Caldas, C, Caldes, T, Campa, D, Canzian, F, Carracedo, A, Carter, BD, Castelao, JE, Chang-Claude, J, Chanock, SJ, Chenevix-Trench, G, Cheng, T-YD, Chin, S-F, Clarke, CL, Cordina-Duverger, E, Couch, FJ, Cox, DG, Cox, A, Cross, SS, Czene, K, Daly, MB, Devilee, P, Dunn, JA, Dunning, AM, Durcan, L, Dwek, M, Earl, HM, Ekici, AB, Eliassen, AH, Ellberg, C, Engel, C, Eriksson, M, Evans, DG, Figueroa, J, Flesch-Janys, D, Flyger, H, Gabrielson, M, Gago-Dominguez, M, Galle, E, Gapstur, SM, Garcia-Closas, M, Garcia-Saenz, JA, Gaudet, MM, George, A, Georgoulias, V, Giles, GG, Glendon, G, Goldgar, DE, Gonzalez-Neira, A, Alnaes, GIG, Grip, M, Guenel, P, Haeberle, L, Hahnen, E, Haiman, CA, Hakansson, N, Hall, P, Hamann, U, Hankinson, S, Harkness, EF, Harrington, PA, Hart, SN, Hartikainen, JM, Hein, A, Hillemanns, P, Hiller, L, Holleczek, B, Hollestelle, A, Hooning, MJ, Hoover, RN, Hopper, JL, Howell, A, Huang, G, Humphreys, K, Hunter, DJ, Janni, W, John, EM, Jones, ME, Jukkola-Vuorinen, A, Jung, A, Kaaks, R, Kabisch, M, Kaczmarek, K, Kerin, MJ, Khan, S, Khusnutdinova, E, Kiiski, J, Kitahara, CM, Knight, JA, Ko, Y-D, Koppert, LB, Kosma, V-M, Kraft, P, Kristensen, VN, Kruger, U, Kuehl, T, Lambrechts, D, Le Marchand, L, Lee, E, Lejbkowicz, F, Li, L, Lindblom, A, Lindstrom, S, Linet, M, Lissowska, J, Lo, W-Y, Loibl, S, Lubinski, J, Lux, MP, MacInnis, RJ, Maierthaler, M, Maishman, T, Makalic, E, Mannermaa, A, Manoochehri, M, Manoukian, S, Margolin, S, Martinez, ME, Mavroudis, D, McLean, C, Meindl, A, Middha, P, Miller, N, Milne, RL, Moreno, F, Mulligan, AM, Mulot, C, Nassir, R, Neuhausen, SL, Newman, WT, Nielsen, SF, Nordestgaard, BG, Norman, A, Olsson, H, Orr, N, Pankratz, VS, Park-Simon, T-W, Perez, JIA, Perez-Barrios, C, Peterlongo, P, Petridis, C, Pinchev, M, Prajzendanc, K, Prentice, R, Presneau, N, Prokofieva, D, Pylkas, K, Rack, B, Radice, P, Ramachandran, D, Rennert, G, Rennert, HS, Rhenius, V, Romero, A, Roylance, R, Saloustros, E, Sawyer, EJ, Schmidt, DF, Schmutzler, RK, Schneeweiss, A, Schoemaker, MJ, Schumacher, F, Schwentner, L, Scott, RJ, Scott, C, Seynaeve, C, Shah, M, Simard, J, Smeets, A, Sohn, C, Southey, MC, Swerdlow, AJ, Talhouk, A, Tamimi, RM, Tapper, WJ, Teixeira, MR, Tengstrom, M, Terry, MB, Thoene, K, Tollenaar, RAEM, Tomlinson, I, Torres, D, Truong, T, Turman, C, Turnbull, C, Ulmer, H-U, Untch, M, Vachon, C, van Asperen, CJ, van den Ouweland, AMW, van Veen, EM, Wendt, C, Whittemore, AS, Willett, W, Winqvist, R, Wolk, A, Yang, XR, Zhang, Y, Easton, DF, Fasching, PA, Nevanlinna, H, Eccles, DM, Pharoah, PDP, Schmidt, MK, Escala-Garcia, M, Guo, Q, Doerk, T, Canisius, S, Keeman, R, Dennis, J, Beesley, J, Lecarpentier, J, Bolla, MK, Wang, Q, Abraham, J, Andrulis, IL, Anton-Culver, H, Arndt, V, Auer, PL, Beckmann, MW, Behrens, S, Benitez, J, Bermisheva, M, Bernstein, L, Blomqvist, C, Boeckx, B, Bojesen, SE, Bonanni, B, Borresen-Dale, A-L, Brauch, H, Brenner, H, Brentnall, A, Brinton, L, Broberg, P, Brock, IW, Brucker, SY, Burwinkel, B, Caldas, C, Caldes, T, Campa, D, Canzian, F, Carracedo, A, Carter, BD, Castelao, JE, Chang-Claude, J, Chanock, SJ, Chenevix-Trench, G, Cheng, T-YD, Chin, S-F, Clarke, CL, Cordina-Duverger, E, Couch, FJ, Cox, DG, Cox, A, Cross, SS, Czene, K, Daly, MB, Devilee, P, Dunn, JA, Dunning, AM, Durcan, L, Dwek, M, Earl, HM, Ekici, AB, Eliassen, AH, Ellberg, C, Engel, C, Eriksson, M, Evans, DG, Figueroa, J, Flesch-Janys, D, Flyger, H, Gabrielson, M, Gago-Dominguez, M, Galle, E, Gapstur, SM, Garcia-Closas, M, Garcia-Saenz, JA, Gaudet, MM, George, A, Georgoulias, V, Giles, GG, Glendon, G, Goldgar, DE, Gonzalez-Neira, A, Alnaes, GIG, Grip, M, Guenel, P, Haeberle, L, Hahnen, E, Haiman, CA, Hakansson, N, Hall, P, Hamann, U, Hankinson, S, Harkness, EF, Harrington, PA, Hart, SN, Hartikainen, JM, Hein, A, Hillemanns, P, Hiller, L, Holleczek, B, Hollestelle, A, Hooning, MJ, Hoover, RN, Hopper, JL, Howell, A, Huang, G, Humphreys, K, Hunter, DJ, Janni, W, John, EM, Jones, ME, Jukkola-Vuorinen, A, Jung, A, Kaaks, R, Kabisch, M, Kaczmarek, K, Kerin, MJ, Khan, S, Khusnutdinova, E, Kiiski, J, Kitahara, CM, Knight, JA, Ko, Y-D, Koppert, LB, Kosma, V-M, Kraft, P, Kristensen, VN, Kruger, U, Kuehl, T, Lambrechts, D, Le Marchand, L, Lee, E, Lejbkowicz, F, Li, L, Lindblom, A, Lindstrom, S, Linet, M, Lissowska, J, Lo, W-Y, Loibl, S, Lubinski, J, Lux, MP, MacInnis, RJ, Maierthaler, M, Maishman, T, Makalic, E, Mannermaa, A, Manoochehri, M, Manoukian, S, Margolin, S, Martinez, ME, Mavroudis, D, McLean, C, Meindl, A, Middha, P, Miller, N, Milne, RL, Moreno, F, Mulligan, AM, Mulot, C, Nassir, R, Neuhausen, SL, Newman, WT, Nielsen, SF, Nordestgaard, BG, Norman, A, Olsson, H, Orr, N, Pankratz, VS, Park-Simon, T-W, Perez, JIA, Perez-Barrios, C, Peterlongo, P, Petridis, C, Pinchev, M, Prajzendanc, K, Prentice, R, Presneau, N, Prokofieva, D, Pylkas, K, Rack, B, Radice, P, Ramachandran, D, Rennert, G, Rennert, HS, Rhenius, V, Romero, A, Roylance, R, Saloustros, E, Sawyer, EJ, Schmidt, DF, Schmutzler, RK, Schneeweiss, A, Schoemaker, MJ, Schumacher, F, Schwentner, L, Scott, RJ, Scott, C, Seynaeve, C, Shah, M, Simard, J, Smeets, A, Sohn, C, Southey, MC, Swerdlow, AJ, Talhouk, A, Tamimi, RM, Tapper, WJ, Teixeira, MR, Tengstrom, M, Terry, MB, Thoene, K, Tollenaar, RAEM, Tomlinson, I, Torres, D, Truong, T, Turman, C, Turnbull, C, Ulmer, H-U, Untch, M, Vachon, C, van Asperen, CJ, van den Ouweland, AMW, van Veen, EM, Wendt, C, Whittemore, AS, Willett, W, Winqvist, R, Wolk, A, Yang, XR, Zhang, Y, Easton, DF, Fasching, PA, Nevanlinna, H, Eccles, DM, Pharoah, PDP, and Schmidt, MK
Abstract: BACKGROUND: We examined the associations between germline variants and breast cancer mortality using a large meta-analysis of women of European ancestry. METHODS: Meta-analyses included summary estimates based on Cox models of twelve datasets using ~10.4 million variants for 96,661 women with breast cancer and 7697 events (breast cancer-specific deaths). Oestrogen receptor (ER)-specific analyses were based on 64,171 ER-positive (4116) and 16,172 ER-negative (2125) patients. We evaluated the probability of a signal to be a true positive using the Bayesian false discovery probability (BFDP). RESULTS: We did not find any variant associated with breast cancer-specific mortality at P < 5 × 10-8. For ER-positive disease, the most significantly associated variant was chr7:rs4717568 (BFDP = 7%, P = 1.28 × 10-7, hazard ratio [HR] = 0.88, 95% confidence interval [CI] = 0.84-0.92); the closest gene is AUTS2. For ER-negative disease, the most significant variant was chr7:rs67918676 (BFDP = 11%, P = 1.38 × 10-7, HR = 1.27, 95% CI = 1.16-1.39); located within a long intergenic non-coding RNA gene (AC004009.3), close to the HOXA gene cluster. CONCLUSIONS: We uncovered germline variants on chromosome 7 at BFDP < 15% close to genes for which there is biological evidence related to breast cancer outcome. However, the paucity of variants associated with mortality at genome-wide significance underpins the challenge in providing genetic-based individualised prognostic information for breast cancer patients.
Published: 2019

22. Polygenic Risk Scores for Prediction of Breast Cancer and Breast Cancer Subtypes

Author: Mavaddat, N, Michailidou, K, Dennis, J, Lush, M, Fachal, L, Lee, A, Tyrer, JP, Chen, T-H, Wang, Q, Bolla, MK, Yang, X, Adank, MA, Ahearn, T, Aittomaki, K, Allen, J, Andrulis, IL, Anton-Culver, H, Antonenkova, NN, Arndt, V, Aronson, KJ, Auer, PL, Auvinen, P, Barrdahl, M, Freeman, LEB, Beckmann, MW, Behrens, S, Benitez, J, Bermisheva, M, Bernstein, L, Blomqvist, C, Bogdanova, N, Bojesen, SE, Bonanni, B, Borresen-Dale, A-L, Brauch, H, Bremer, M, Brenner, H, Brentnall, A, Brock, IW, Brooks-Wilson, A, Brucker, SY, Bruening, T, Burwinkel, B, Campa, D, Carter, BD, Castelao, JE, Chanock, SJ, Chlebowski, R, Christiansen, H, Clarke, CL, Collee, JM, Cordina-Duverger, E, Cornelissen, S, Couch, FJ, Cox, A, Cross, SS, Czene, K, Daly, MB, Devilee, P, Doerk, T, dos-Santos-Silva, I, Dumont, M, Durcan, L, Dwek, M, Eccles, DM, Ekici, AB, Eliassen, AH, Ellberg, C, Engel, C, Eriksson, M, Evans, DG, Fasching, PA, Figueroa, J, Fletcher, O, Flyger, H, Foersti, A, Fritschi, L, Gabrielson, M, Gago-Dominguez, M, Gapstur, SM, Garcia-Saenz, JA, Gaudet, MM, Georgoulias, V, Giles, GG, Gilyazova, IR, Glendon, G, Goldberg, MS, Goldgar, DE, Gonzalez-Neira, A, Alnaes, GIG, Grip, M, Gronwald, J, Grundy, A, Guenel, P, Haeberle, L, Hahnen, E, Haiman, CA, Hakansson, N, Hamann, U, Hankinson, SE, Harkness, EF, Hart, SN, He, W, Hein, A, Heyworth, J, Hillemanns, P, Hollestelle, A, Hooning, MJ, Hoover, RN, Hopper, JL, Howell, A, Huang, G, Humphreys, K, Hunter, DJ, Jakimovska, M, Jakubowska, A, Janni, W, John, EM, Johnson, N, Jones, ME, Jukkola-Vuorinen, A, Jung, A, Kaaks, R, Kaczmarek, K, Kataja, V, Keeman, R, Kerin, MJ, Khusnutdinova, E, Kiiski, J, Knight, JA, Ko, Y-D, Kosma, V-M, Koutros, S, Kristensen, VN, Kruger, U, Kuehl, T, Lambrechts, D, Le Marchand, L, Lee, E, Lejbkowicz, F, Lilyquist, J, Lindblom, A, Lindstrom, S, Lissowska, J, Lo, W-Y, Loibl, S, Long, J, Lubinski, J, Lux, MP, MacInnis, RJ, Maishman, T, Makalic, E, Kostovska, IM, Mannermaa, A, Manoukian, S, Margolin, S, Martens, JWM, Martinez, ME, Mavroudis, D, McLean, C, Meindl, A, Menon, U, Middha, P, Miller, N, Moreno, F, Mulligan, AM, Mulot, C, Munoz-Garzon, VM, Neuhausen, SL, Nevanlinna, H, Neven, P, Newman, WG, Nielsen, SF, Nordestgaard, BG, Norman, A, Offit, K, Olson, JE, Olsson, H, Orr, N, Pankratz, VS, Park-Simon, T-W, Perez, JIA, Perez-Barrios, C, Peterlongo, P, Peto, J, Pinchev, M, Plaseska-Karanfilska, D, Polley, EC, Prentice, R, Presneau, N, Prokofyeva, D, Purrington, K, Pylkas, K, Rack, B, Radice, P, Rau-Murthy, R, Rennert, G, Rennert, HS, Rhenius, V, Robson, M, Romero, A, Ruddy, KJ, Ruebner, M, Saloustros, E, Sandler, DP, Sawyer, EJ, Schmidt, DF, Schmutzler, RK, Schneeweiss, A, Schoemaker, MJ, Schumacher, F, Schuermann, P, Schwentner, L, Scott, C, Scott, RJ, Seynaeve, C, Shah, M, Sherman, ME, Shrubsole, MJ, Shu, X-O, Slager, S, Smeets, A, Sohn, C, Soucy, P, Southey, MC, Spinelli, JJ, Stegmaier, C, Stone, J, Swerdlow, AJ, Tamimi, RM, Tapper, WJ, Taylor, JA, Terry, MB, Thoene, K, Tollenaar, RAEM, Tomlinson, I, Truong, T, Tzardi, M, Ulmer, H-U, Untch, M, Vachon, CM, van Veen, EM, Vijai, J, Weinberg, CR, Wendt, C, Whittemore, AS, Wildiers, H, Willett, W, Winqvist, R, Wolk, A, Yang, XR, Yannoukakos, D, Zhang, Y, Zheng, W, Ziogas, A, Clarke, C, Balleine, R, Baxter, R, Braye, S, Carpenter, J, Dahlstrom, J, Forbes, J, Lee, CS, Marsh, D, Morey, A, Pathmanathan, N, Scott, R, Simpson, P, Spigelman, A, Wilcken, N, Yip, D, Zeps, N, Sexton, A, Dobrovic, A, Christian, A, Trainer, A, Fellows, A, Shelling, A, De Fazio, A, Blackburn, A, Crook, A, Meiser, B, Patterson, B, Saunders, C, Hunt, C, Amor, D, Ortega, DG, Edkins, E, Salisbury, E, Haan, E, Macrea, F, Farshid, G, Lindeman, G, Trench, G, Mann, G, Giles, G, Gill, G, Thorne, H, Campbell, I, Hickie, I, Caldon, L, Winship, I, Cui, J, Flanagan, J, Kollias, J, Visvader, J, Taylor, J, Burke, J, Saunus, J, Forbs, J, Hopper, J, Beesley, J, Kirk, J, French, J, Tucker, K, Wu, K, Phillips, K, Forrest, L, Lipton, L, Andrews, L, Lobb, L, Walker, L, Kentwell, M, Spurdle, M, Cummings, M, Gleeson, M, Harris, M, Jenkins, M, Young, MA, Delatycki, M, Wallis, M, Burgess, M, Brown, M, Southey, M, Bogwitz, M, Field, M, Friedlander, M, Gattas, M, Saleh, M, Aghmesheh, M, Hayward, N, Pachter, N, Cohen, P, Duijf, P, James, P, Fong, P, Butow, P, Williams, R, Kefford, R, Simard, J, Balleine, R-M, Dawson, S-J, Lok, S, O'connell, S, Greening, S, Nightingale, S, Edwards, S, Fox, S, McLachlan, S-A, Lakhani, S, Dudding, T, Antill, Y, Sahlberg, KK, Ottestad, L, Karesen, R, Schlichting, E, Holmen, MM, Sauer, T, Haakensen, V, Engebraten, O, Naume, B, Fossa, A, Kiserud, CE, Reinertsen, K, Helland, A, Riis, M, Geisler, J, Dunning, AM, Thompson, DJ, Chenevix-Trench, G, Chang-Claude, J, Schmidt, MK, Hall, P, Milne, RL, Pharoah, PDP, Antoniou, AC, Chatterjee, N, Kraft, P, Garcia-Closas, M, Easton, DF, Mavaddat, N, Michailidou, K, Dennis, J, Lush, M, Fachal, L, Lee, A, Tyrer, JP, Chen, T-H, Wang, Q, Bolla, MK, Yang, X, Adank, MA, Ahearn, T, Aittomaki, K, Allen, J, Andrulis, IL, Anton-Culver, H, Antonenkova, NN, Arndt, V, Aronson, KJ, Auer, PL, Auvinen, P, Barrdahl, M, Freeman, LEB, Beckmann, MW, Behrens, S, Benitez, J, Bermisheva, M, Bernstein, L, Blomqvist, C, Bogdanova, N, Bojesen, SE, Bonanni, B, Borresen-Dale, A-L, Brauch, H, Bremer, M, Brenner, H, Brentnall, A, Brock, IW, Brooks-Wilson, A, Brucker, SY, Bruening, T, Burwinkel, B, Campa, D, Carter, BD, Castelao, JE, Chanock, SJ, Chlebowski, R, Christiansen, H, Clarke, CL, Collee, JM, Cordina-Duverger, E, Cornelissen, S, Couch, FJ, Cox, A, Cross, SS, Czene, K, Daly, MB, Devilee, P, Doerk, T, dos-Santos-Silva, I, Dumont, M, Durcan, L, Dwek, M, Eccles, DM, Ekici, AB, Eliassen, AH, Ellberg, C, Engel, C, Eriksson, M, Evans, DG, Fasching, PA, Figueroa, J, Fletcher, O, Flyger, H, Foersti, A, Fritschi, L, Gabrielson, M, Gago-Dominguez, M, Gapstur, SM, Garcia-Saenz, JA, Gaudet, MM, Georgoulias, V, Giles, GG, Gilyazova, IR, Glendon, G, Goldberg, MS, Goldgar, DE, Gonzalez-Neira, A, Alnaes, GIG, Grip, M, Gronwald, J, Grundy, A, Guenel, P, Haeberle, L, Hahnen, E, Haiman, CA, Hakansson, N, Hamann, U, Hankinson, SE, Harkness, EF, Hart, SN, He, W, Hein, A, Heyworth, J, Hillemanns, P, Hollestelle, A, Hooning, MJ, Hoover, RN, Hopper, JL, Howell, A, Huang, G, Humphreys, K, Hunter, DJ, Jakimovska, M, Jakubowska, A, Janni, W, John, EM, Johnson, N, Jones, ME, Jukkola-Vuorinen, A, Jung, A, Kaaks, R, Kaczmarek, K, Kataja, V, Keeman, R, Kerin, MJ, Khusnutdinova, E, Kiiski, J, Knight, JA, Ko, Y-D, Kosma, V-M, Koutros, S, Kristensen, VN, Kruger, U, Kuehl, T, Lambrechts, D, Le Marchand, L, Lee, E, Lejbkowicz, F, Lilyquist, J, Lindblom, A, Lindstrom, S, Lissowska, J, Lo, W-Y, Loibl, S, Long, J, Lubinski, J, Lux, MP, MacInnis, RJ, Maishman, T, Makalic, E, Kostovska, IM, Mannermaa, A, Manoukian, S, Margolin, S, Martens, JWM, Martinez, ME, Mavroudis, D, McLean, C, Meindl, A, Menon, U, Middha, P, Miller, N, Moreno, F, Mulligan, AM, Mulot, C, Munoz-Garzon, VM, Neuhausen, SL, Nevanlinna, H, Neven, P, Newman, WG, Nielsen, SF, Nordestgaard, BG, Norman, A, Offit, K, Olson, JE, Olsson, H, Orr, N, Pankratz, VS, Park-Simon, T-W, Perez, JIA, Perez-Barrios, C, Peterlongo, P, Peto, J, Pinchev, M, Plaseska-Karanfilska, D, Polley, EC, Prentice, R, Presneau, N, Prokofyeva, D, Purrington, K, Pylkas, K, Rack, B, Radice, P, Rau-Murthy, R, Rennert, G, Rennert, HS, Rhenius, V, Robson, M, Romero, A, Ruddy, KJ, Ruebner, M, Saloustros, E, Sandler, DP, Sawyer, EJ, Schmidt, DF, Schmutzler, RK, Schneeweiss, A, Schoemaker, MJ, Schumacher, F, Schuermann, P, Schwentner, L, Scott, C, Scott, RJ, Seynaeve, C, Shah, M, Sherman, ME, Shrubsole, MJ, Shu, X-O, Slager, S, Smeets, A, Sohn, C, Soucy, P, Southey, MC, Spinelli, JJ, Stegmaier, C, Stone, J, Swerdlow, AJ, Tamimi, RM, Tapper, WJ, Taylor, JA, Terry, MB, Thoene, K, Tollenaar, RAEM, Tomlinson, I, Truong, T, Tzardi, M, Ulmer, H-U, Untch, M, Vachon, CM, van Veen, EM, Vijai, J, Weinberg, CR, Wendt, C, Whittemore, AS, Wildiers, H, Willett, W, Winqvist, R, Wolk, A, Yang, XR, Yannoukakos, D, Zhang, Y, Zheng, W, Ziogas, A, Clarke, C, Balleine, R, Baxter, R, Braye, S, Carpenter, J, Dahlstrom, J, Forbes, J, Lee, CS, Marsh, D, Morey, A, Pathmanathan, N, Scott, R, Simpson, P, Spigelman, A, Wilcken, N, Yip, D, Zeps, N, Sexton, A, Dobrovic, A, Christian, A, Trainer, A, Fellows, A, Shelling, A, De Fazio, A, Blackburn, A, Crook, A, Meiser, B, Patterson, B, Saunders, C, Hunt, C, Amor, D, Ortega, DG, Edkins, E, Salisbury, E, Haan, E, Macrea, F, Farshid, G, Lindeman, G, Trench, G, Mann, G, Giles, G, Gill, G, Thorne, H, Campbell, I, Hickie, I, Caldon, L, Winship, I, Cui, J, Flanagan, J, Kollias, J, Visvader, J, Taylor, J, Burke, J, Saunus, J, Forbs, J, Hopper, J, Beesley, J, Kirk, J, French, J, Tucker, K, Wu, K, Phillips, K, Forrest, L, Lipton, L, Andrews, L, Lobb, L, Walker, L, Kentwell, M, Spurdle, M, Cummings, M, Gleeson, M, Harris, M, Jenkins, M, Young, MA, Delatycki, M, Wallis, M, Burgess, M, Brown, M, Southey, M, Bogwitz, M, Field, M, Friedlander, M, Gattas, M, Saleh, M, Aghmesheh, M, Hayward, N, Pachter, N, Cohen, P, Duijf, P, James, P, Fong, P, Butow, P, Williams, R, Kefford, R, Simard, J, Balleine, R-M, Dawson, S-J, Lok, S, O'connell, S, Greening, S, Nightingale, S, Edwards, S, Fox, S, McLachlan, S-A, Lakhani, S, Dudding, T, Antill, Y, Sahlberg, KK, Ottestad, L, Karesen, R, Schlichting, E, Holmen, MM, Sauer, T, Haakensen, V, Engebraten, O, Naume, B, Fossa, A, Kiserud, CE, Reinertsen, K, Helland, A, Riis, M, Geisler, J, Dunning, AM, Thompson, DJ, Chenevix-Trench, G, Chang-Claude, J, Schmidt, MK, Hall, P, Milne, RL, Pharoah, PDP, Antoniou, AC, Chatterjee, N, Kraft, P, Garcia-Closas, M, and Easton, DF
Abstract: Stratification of women according to their risk of breast cancer based on polygenic risk scores (PRSs) could improve screening and prevention strategies. Our aim was to develop PRSs, optimized for prediction of estrogen receptor (ER)-specific disease, from the largest available genome-wide association dataset and to empirically validate the PRSs in prospective studies. The development dataset comprised 94,075 case subjects and 75,017 control subjects of European ancestry from 69 studies, divided into training and validation sets. Samples were genotyped using genome-wide arrays, and single-nucleotide polymorphisms (SNPs) were selected by stepwise regression or lasso penalized regression. The best performing PRSs were validated in an independent test set comprising 11,428 case subjects and 18,323 control subjects from 10 prospective studies and 190,040 women from UK Biobank (3,215 incident breast cancers). For the best PRSs (313 SNPs), the odds ratio for overall disease per 1 standard deviation in ten prospective studies was 1.61 (95%CI: 1.57-1.65) with area under receiver-operator curve (AUC) = 0.630 (95%CI: 0.628-0.651). The lifetime risk of overall breast cancer in the top centile of the PRSs was 32.6%. Compared with women in the middle quintile, those in the highest 1% of risk had 4.37- and 2.78-fold risks, and those in the lowest 1% of risk had 0.16- and 0.27-fold risks, of developing ER-positive and ER-negative disease, respectively. Goodness-of-fit tests indicated that this PRS was well calibrated and predicts disease risk accurately in the tails of the distribution. This PRS is a powerful and reliable predictor of breast cancer risk that may improve breast cancer prevention programs.
Published: 2019

23. Polygenic risk scores for prediction of breast cancer and breast cancer subtypes

Author: Mavaddat, N. (Nasim), Michailidou, K. (Kyriaki), Dennis, J. (Joe), Lush, M. (Michael), Fachal, L. (Laura), Lee, A. (Andrew), Tyrer, J. P. (Jonathan P.), Chen, T.-H. (Ting-Huei), Wang, Q. (Qin), Bolla, M. K. (Manjeet K.), Yang, X. (Xin), Adank, M. A. (Muriel A.), Ahearn, T. (Thomas), Aittomaki, K. (Kristiina), Allen, J. (Jamie), Andrulis, I. L. (Irene L.), Anton-Culver, H. (Hoda), Antonenkova, N. N. (Natalia N.), Arndt, V. (Volker), Aronson, K. J. (Kristan J.), Auer, P. L. (Paul L.), Auvinen, P. (Paivi), Barrdahl, M. (Myrto), Freeman, L. E. (Laura E. Beane), Beckmann, M. W. (Matthias W.), Behrens, S. (Sabine), Benitez, J. (Javier), Bermisheva, M. (Marina), Bernstein, L. (Leslie), Blomqvist, C. (Carl), Bogdanova, N. V. (Natalia, V), Bojesen, S. E. (Stig E.), Bonanni, B. (Bernardo), Borresen-Dale, A.-L. (Anne-Lise), Brauch, H. (Hiltrud), Bremer, M. (Michael), Brenner, H. (Hermann), Brentnall, A. (Adam), Brock, I. W. (Ian W.), Brooks-Wilson, A. (Angela), Brucker, S. Y. (Sara Y.), Bruening, T. (Thomas), Burwinkel, B. (Barbara), Campa, D. (Daniele), Carter, B. D. (Brian D.), Castelao, J. E. (Jose E.), Chanock, S. J. (Stephen J.), Chlebowski, R. (Rowan), Christiansen, H. (Hans), Clarke, C. L. (Christine L.), Collee, J. M. (J. Margriet), Cordina-Duverger, E. (Emilie), Cornelissen, S. (Sten), Couch, F. J. (Fergus J.), Cox, A. (Angela), Cross, S. S. (Simon S.), Czene, K. (Kamila), Daly, M. B. (Mary B.), Devilee, P. (Peter), Doerk, T. (Thilo), dos-Santos-Silva, I. (Isabel), Dumont, M. (Martine), Durcan, L. (Lorraine), Dwek, M. (Miriam), Eccles, D. M. (Diana M.), Ekici, A. B. (Arif B.), Eliassen, A. H. (A. Heather), Ellberg, C. (Carolina), Engel, C. (Christoph), Eriksson, M. (Mikael), Evans, D. G. (D. Gareth), Fasching, P. A. (Peter A.), Figueroa, J. (Jonine), Fletcher, O. (Olivia), Flyger, H. (Henrik), Foersti, A. (Asta), Fritschi, L. (Lin), Gabrielson, M. (Marike), Gago-Dominguez, M. (Manuela), Gapstur, S. M. (Susan M.), Garcia-Saenz, J. A. (Jose A.), Gaudet, M. M. (Mia M.), Georgoulias, V. (Vassilios), Giles, G. G. (Graham G.), Gilyazova, I. R. (Irina R.), Glendon, G. (Gord), Goldberg, M. S. (Mark S.), Goldgar, D. E. (David E.), Gonzalez-Neira, A. (Anna), Alnaes, G. I. (Grethe I. Grenaker), Grip, M. (Mervi), Gronwald, J. (Jacek), Grundy, A. (Anne), Guenel, P. (Pascal), Haeberle, L. (Lothar), Hahnen, E. (Eric), Haiman, C. A. (Christopher A.), Hakansson, N. (Niclas), Hamann, U. (Ute), Hankinson, S. E. (Susan E.), Harkness, E. F. (Elaine F.), Hart, S. N. (Steven N.), He, W. (Wei), Hein, A. (Alexander), Heyworth, J. (Jane), Hillemanns, P. (Peter), Hollestelle, A. (Antoinette), Hooning, M. J. (Maartje J.), Hoover, R. N. (Robert N.), Hopper, J. L. (John L.), Howell, A. (Anthony), Huang, G. (Guanmengqian), Humphreys, K. (Keith), Hunter, D. J. (David J.), Jakimovska, M. (Milena), Jakubowska, A. (Anna), Janni, W. (Wolfgang), John, E. M. (Esther M.), Johnson, N. (Nichola), Jones, M. E. (Michael E.), Jukkola-Vuorinen, A. (Arja), Jung, A. (Audrey), Kaaks, R. (Rudolf), Kaczmarek, K. (Katarzyna), Kataja, V. (Vesa), Keeman, R. (Renske), Kerin, M. J. (Michael J.), Khusnutdinova, E. (Elza), Kiiski, J. I. (Johanna, I), Knight, J. A. (Julia A.), Ko, Y.-D. (Yon-Dschun), Kosma, V.-M. (Veli-Matti), Koutros, S. (Stella), Kristensen, V. N. (Vessela N.), Kruger, U. (Ute), Kuehl, T. (Tabea), Lambrechts, D. (Diether), Le Marchand, L. (Loic), Lee, E. (Eunjung), Lejbkowicz, F. (Flavio), Lilyquist, J. (Jenna), Lindblom, A. (Annika), Lindstrom, S. (Sara), Lissowska, J. (Jolanta), Lo, W.-Y. (Wing-Yee), Loibl, S. (Sibylle), Long, J. (Jirong), Lubinski, J. (Jan), Lux, M. P. (Michael P.), MacInnis, R. J. (Robert J.), Maishman, T. (Tom), Makalic, E. (Enes), Kostovska, I. M. (Ivana Maleva), Mannermaa, A. (Arto), Manoukian, S. (Siranoush), Margolin, S. (Sara), Martens, J. W. (John W. M.), Martinez, M. E. (Maria Elena), Mavroudis, D. (Dimitrios), McLean, C. (Catriona), Meindl, A. (Alfons), Menon, U. (Usha), Middha, P. (Pooja), Miller, N. (Nicola), Moreno, F. (Fernando), Mulligan, A. M. (Anna Marie), Mulot, C. (Claire), Munoz-Garzon, V. M. (Victor M.), Neuhausen, S. L. (Susan L.), Nevanlinna, H. (Heli), Neven, P. (Patrick), Newman, W. G. (William G.), Nielsen, S. F. (Sune F.), Nordestgaard, B. G. (Borge G.), Norman, A. (Aaron), Offit, K. (Kenneth), Olson, J. E. (Janet E.), Olsson, H. (Hakan), Orr, N. (Nick), Pankratz, V. S. (V. Shane), Park-Simon, T.-W. (Tjoung-Won), Perez, J. I. (Jose I. A.), Perez-Barrios, C. (Clara), Peterlongo, P. (Paolo), Peto, J. (Julian), Pinchev, M. (Mila), Plaseska-Karanfilska, D. (Dijana), Polley, E. C. (Eric C.), Prentice, R. (Ross), Presneau, N. (Nadege), Prokofyeva, D. (Darya), Purrington, K. (Kristen), Pylkäs, K. (Katri), Rack, B. (Brigitte), Radice, P. (Paolo), Rau-Murthy, R. (Rohini), Rennert, G. (Gad), Rennert, H. S. (Hedy S.), Rhenius, V. (Valerie), Robson, M. (Mark), Romero, A. (Atocha), Ruddy, K. J. (Kathryn J.), Ruebner, M. (Matthias), Saloustros, E. (Emmanouil), Sandler, D. P. (Dale P.), Sawyer, E. J. (Elinor J.), Schmidt, D. F. (Daniel F.), Schmutzler, R. K. (Rita K.), Schneeweiss, A. (Andreas), Schoemaker, M. J. (Minouk J.), Schumacher, F. (Fredrick), Schuermann, P. (Peter), Schwentner, L. (Lukas), Scott, C. (Christopher), Scott, R. J. (Rodney J.), Seynaeve, C. (Caroline), Shah, M. (Mitul), Sherman, M. E. (Mark E.), Shrubsole, M. J. (Martha J.), Shu, X.-O. (Xiao-Ou), Slager, S. (Susan), Smeets, A. (Ann), Sohn, C. (Christof), Soucy, P. (Penny), Southey, M. C. (Melissa C.), Spinelli, J. J. (John J.), Stegmaier, C. (Christa), Stone, J. (Jennifer), Swerdlow, A. J. (Anthony J.), Tamimi, R. M. (Rulla M.), Tapper, W. J. (William J.), Taylor, J. A. (Jack A.), Terry, M. B. (Mary Beth), Thoene, K. (Kathrin), Tollenaar, R. A. (Rob A. E. M.), Tomlinson, I. (Ian), Truong, T. (Therese), Tzardi, M. (Maria), Ulmer, H.-U. (Hans-Ulrich), Untch, M. (Michael), Vachon, C. M. (Celine M.), van Veen, E. M. (Elke M.), Vijai, J. (Joseph), Weinberg, C. R. (Clarice R.), Wendt, C. (Camilla), Whittemore, A. S. (Alice S.), Wildiers, H. (Hans), Willett, W. (Walter), Winqvist, R. (Robert), Wolk, A. (Alicja), Yang, X. R. (Xiaohong R.), Yannoukakos, D. (Drakoulis), Zhang, Y. (Yan), Zheng, W. (Wei), Ziogas, A. (Argyrios), Clarke, C. (Christine), Balleine, R. (Rosemary), Baxter, R. (Robert), Braye, S. (Stephen), Carpenter, J. (Jane), Dahlstrom, J. (Jane), Forbes, J. (John), Lee, C. S. (C. Soon), Marsh, D. (Deborah), Morey, A. (Adrienne), Pathmanathan, N. (Nirmala), Scott, R. (Rodney), Simpson, P. (Peter), Spigelman, A. (Allan), Wilcken, N. (Nicholas), Yip, D. (Desmond), Zeps, N. (Nikolajs), Sexton, A. (Adrienne), Dobrovic, A. (Alex), Christian, A. (Alice), Trainer, A. (Alison), Fellows, A. (Andrew), Shelling, A. (Andrew), De Fazio, A. (Anna), Blackburn, A. (Anneke), Crook, A. (Ashley), Meiser, B. (Bettina), Patterson, B. (Briony), Clarke, C. (Christobel), Saunders, C. (Christobel), Hunt, C. (Clare), Scott, C. (Clare), Amor, D. (David), Ortega, D. G. (David Gallego), Marsh, D. (Deb), Edkins, E. (Edward), Salisbury, E. (Elizabeth), Haan, E. (Eric), Macrea, F. (Finlay), Farshid, G. (Gelareh), Lindeman, G. (Geoff), Trench, G. (Georgia), Mann, G. (Graham), Giles, G. (Graham), Gill, G. (Grantley), Thorne, H. (Heather), Campbell, I. (Ian), Hickie, I. (Ian), Caldon, L. (Liz), Winship, I. (Ingrid), Cui, J. (James), Flanagan, J. (James), Kollias, J. (James), Visvader, J. (Jane), Taylor, J. (Jessica), Burke, J. (Jo), Saunus, J. (Jodi), Forbs, J. (John), Hopper, J. (John), Beesley, J. (Jonathan), Kirk, J. (Judy), French, J. (Juliet), Tucker, K. (Kathy), Wu, K. (Kathy), Phillips, K. (Kelly), Forrest, L. (Laura), Lipton, L. (Lara), Andrews, L. (Leslie), Lobb, L. (Lizz), Walker, L. (Logan), Kentwell, M. (Maira), Spurdle, M. (Mandy), Cummings, M. (Margaret), Gleeson, M. (Margaret), Harris, M. (Marion), Jenkins, M. (Mark), Young, M. A. (Mary Anne), Delatycki, M. (Martin), Wallis, M. (Mathew), Burgess, M. (Matthew), Brown, M. (Melissa), Southey, M. (Melissa), Bogwitz, M. (Michael), Field, M. (Michael), Friedlander, M. (Michael), Gattas, M. (Michael), Saleh, M. (Mona), Aghmesheh, M. (Morteza), Hayward, N. (Nick), Pachter, N. (Nick), Cohen, P. (Paul), Duijf, P. (Pascal), James, P. (Paul), Simpson, P. (Pete), Fong, P. (Peter), Butow, P. (Phyllis), Williams, R. (Rachael), Kefford, R. (Rick), Simard, J. (Jacques), Balleine, R.-M. (Rose-Mary), Dawson, S.-J. (Sarah-Jane), Lok, S. (Sheau), O'connell, S. (Shona), Greening, S. (Sian), Nightingale, S. (Sophie), Edwards, S. (Stacey), Fox, S. (Stephen), McLachlan, S.-A. (Sue-Anne), Lakhani, S. (Sunil), Dudding, T. (Tracy), Antill, Y. (Yoland), Sahlberg, K. K. (Kristine K.), Ottestad, L. (Lars), Karesen, R. (Rolf), Schlichting, E. (Ellen), Holmen, M. M. (Marit Muri), Sauer, T. (Toril), Haakensen, V. (Vilde), Engebraten, O. (Olav), Naume, B. (Bjorn), Fossa, A. (Alexander), Kiserud, C. E. (Cecile E.), Reinertsen, K. V. (Kristin, V), Helland, A. (Aslaug), Riis, M. (Margit), Geisler, J. (Juergen), Dunning, A. M. (Alison M.), Thompson, D. J. (Deborah J.), Chenevix-Trench, G. (Georgia), Chang-Claude, J. (Jenny), Schmidt, M. K. (Marjanka K.), Hall, P. (Per), Milne, R. L. (Roger L.), Pharoah, P. D. (Paul D. P.), Antoniou, A. C. (Antonis C.), Chatterjee, N. (Nilanjan), Kraft, P. (Peter), Garcia-Closas, M. (Montserrat), Easton, D. F. (Douglas F.), Mavaddat, N. (Nasim), Michailidou, K. (Kyriaki), Dennis, J. (Joe), Lush, M. (Michael), Fachal, L. (Laura), Lee, A. (Andrew), Tyrer, J. P. (Jonathan P.), Chen, T.-H. (Ting-Huei), Wang, Q. (Qin), Bolla, M. K. (Manjeet K.), Yang, X. (Xin), Adank, M. A. (Muriel A.), Ahearn, T. (Thomas), Aittomaki, K. (Kristiina), Allen, J. (Jamie), Andrulis, I. L. (Irene L.), Anton-Culver, H. (Hoda), Antonenkova, N. N. (Natalia N.), Arndt, V. (Volker), Aronson, K. J. (Kristan J.), Auer, P. L. (Paul L.), Auvinen, P. (Paivi), Barrdahl, M. (Myrto), Freeman, L. E. (Laura E. Beane), Beckmann, M. W. (Matthias W.), Behrens, S. (Sabine), Benitez, J. (Javier), Bermisheva, M. (Marina), Bernstein, L. (Leslie), Blomqvist, C. (Carl), Bogdanova, N. V. (Natalia, V), Bojesen, S. E. (Stig E.), Bonanni, B. (Bernardo), Borresen-Dale, A.-L. (Anne-Lise), Brauch, H. (Hiltrud), Bremer, M. (Michael), Brenner, H. (Hermann), Brentnall, A. (Adam), Brock, I. W. (Ian W.), Brooks-Wilson, A. (Angela), Brucker, S. Y. (Sara Y.), Bruening, T. (Thomas), Burwinkel, B. (Barbara), Campa, D. (Daniele), Carter, B. D. (Brian D.), Castelao, J. E. (Jose E.), Chanock, S. J. (Stephen J.), Chlebowski, R. (Rowan), Christiansen, H. (Hans), Clarke, C. L. (Christine L.), Collee, J. M. (J. Margriet), Cordina-Duverger, E. (Emilie), Cornelissen, S. (Sten), Couch, F. J. (Fergus J.), Cox, A. (Angela), Cross, S. S. (Simon S.), Czene, K. (Kamila), Daly, M. B. (Mary B.), Devilee, P. (Peter), Doerk, T. (Thilo), dos-Santos-Silva, I. (Isabel), Dumont, M. (Martine), Durcan, L. (Lorraine), Dwek, M. (Miriam), Eccles, D. M. (Diana M.), Ekici, A. B. (Arif B.), Eliassen, A. H. (A. Heather), Ellberg, C. (Carolina), Engel, C. (Christoph), Eriksson, M. (Mikael), Evans, D. G. (D. Gareth), Fasching, P. A. (Peter A.), Figueroa, J. (Jonine), Fletcher, O. (Olivia), Flyger, H. (Henrik), Foersti, A. (Asta), Fritschi, L. (Lin), Gabrielson, M. (Marike), Gago-Dominguez, M. (Manuela), Gapstur, S. M. (Susan M.), Garcia-Saenz, J. A. (Jose A.), Gaudet, M. M. (Mia M.), Georgoulias, V. (Vassilios), Giles, G. G. (Graham G.), Gilyazova, I. R. (Irina R.), Glendon, G. (Gord), Goldberg, M. S. (Mark S.), Goldgar, D. E. (David E.), Gonzalez-Neira, A. (Anna), Alnaes, G. I. (Grethe I. Grenaker), Grip, M. (Mervi), Gronwald, J. (Jacek), Grundy, A. (Anne), Guenel, P. (Pascal), Haeberle, L. (Lothar), Hahnen, E. (Eric), Haiman, C. A. (Christopher A.), Hakansson, N. (Niclas), Hamann, U. (Ute), Hankinson, S. E. (Susan E.), Harkness, E. F. (Elaine F.), Hart, S. N. (Steven N.), He, W. (Wei), Hein, A. (Alexander), Heyworth, J. (Jane), Hillemanns, P. (Peter), Hollestelle, A. (Antoinette), Hooning, M. J. (Maartje J.), Hoover, R. N. (Robert N.), Hopper, J. L. (John L.), Howell, A. (Anthony), Huang, G. (Guanmengqian), Humphreys, K. (Keith), Hunter, D. J. (David J.), Jakimovska, M. (Milena), Jakubowska, A. (Anna), Janni, W. (Wolfgang), John, E. M. (Esther M.), Johnson, N. (Nichola), Jones, M. E. (Michael E.), Jukkola-Vuorinen, A. (Arja), Jung, A. (Audrey), Kaaks, R. (Rudolf), Kaczmarek, K. (Katarzyna), Kataja, V. (Vesa), Keeman, R. (Renske), Kerin, M. J. (Michael J.), Khusnutdinova, E. (Elza), Kiiski, J. I. (Johanna, I), Knight, J. A. (Julia A.), Ko, Y.-D. (Yon-Dschun), Kosma, V.-M. (Veli-Matti), Koutros, S. (Stella), Kristensen, V. N. (Vessela N.), Kruger, U. (Ute), Kuehl, T. (Tabea), Lambrechts, D. (Diether), Le Marchand, L. (Loic), Lee, E. (Eunjung), Lejbkowicz, F. (Flavio), Lilyquist, J. (Jenna), Lindblom, A. (Annika), Lindstrom, S. (Sara), Lissowska, J. (Jolanta), Lo, W.-Y. (Wing-Yee), Loibl, S. (Sibylle), Long, J. (Jirong), Lubinski, J. (Jan), Lux, M. P. (Michael P.), MacInnis, R. J. (Robert J.), Maishman, T. (Tom), Makalic, E. (Enes), Kostovska, I. M. (Ivana Maleva), Mannermaa, A. (Arto), Manoukian, S. (Siranoush), Margolin, S. (Sara), Martens, J. W. (John W. M.), Martinez, M. E. (Maria Elena), Mavroudis, D. (Dimitrios), McLean, C. (Catriona), Meindl, A. (Alfons), Menon, U. (Usha), Middha, P. (Pooja), Miller, N. (Nicola), Moreno, F. (Fernando), Mulligan, A. M. (Anna Marie), Mulot, C. (Claire), Munoz-Garzon, V. M. (Victor M.), Neuhausen, S. L. (Susan L.), Nevanlinna, H. (Heli), Neven, P. (Patrick), Newman, W. G. (William G.), Nielsen, S. F. (Sune F.), Nordestgaard, B. G. (Borge G.), Norman, A. (Aaron), Offit, K. (Kenneth), Olson, J. E. (Janet E.), Olsson, H. (Hakan), Orr, N. (Nick), Pankratz, V. S. (V. Shane), Park-Simon, T.-W. (Tjoung-Won), Perez, J. I. (Jose I. A.), Perez-Barrios, C. (Clara), Peterlongo, P. (Paolo), Peto, J. (Julian), Pinchev, M. (Mila), Plaseska-Karanfilska, D. (Dijana), Polley, E. C. (Eric C.), Prentice, R. (Ross), Presneau, N. (Nadege), Prokofyeva, D. (Darya), Purrington, K. (Kristen), Pylkäs, K. (Katri), Rack, B. (Brigitte), Radice, P. (Paolo), Rau-Murthy, R. (Rohini), Rennert, G. (Gad), Rennert, H. S. (Hedy S.), Rhenius, V. (Valerie), Robson, M. (Mark), Romero, A. (Atocha), Ruddy, K. J. (Kathryn J.), Ruebner, M. (Matthias), Saloustros, E. (Emmanouil), Sandler, D. P. (Dale P.), Sawyer, E. J. (Elinor J.), Schmidt, D. F. (Daniel F.), Schmutzler, R. K. (Rita K.), Schneeweiss, A. (Andreas), Schoemaker, M. J. (Minouk J.), Schumacher, F. (Fredrick), Schuermann, P. (Peter), Schwentner, L. (Lukas), Scott, C. (Christopher), Scott, R. J. (Rodney J.), Seynaeve, C. (Caroline), Shah, M. (Mitul), Sherman, M. E. (Mark E.), Shrubsole, M. J. (Martha J.), Shu, X.-O. (Xiao-Ou), Slager, S. (Susan), Smeets, A. (Ann), Sohn, C. (Christof), Soucy, P. (Penny), Southey, M. C. (Melissa C.), Spinelli, J. J. (John J.), Stegmaier, C. (Christa), Stone, J. (Jennifer), Swerdlow, A. J. (Anthony J.), Tamimi, R. M. (Rulla M.), Tapper, W. J. (William J.), Taylor, J. A. (Jack A.), Terry, M. B. (Mary Beth), Thoene, K. (Kathrin), Tollenaar, R. A. (Rob A. E. M.), Tomlinson, I. (Ian), Truong, T. (Therese), Tzardi, M. (Maria), Ulmer, H.-U. (Hans-Ulrich), Untch, M. (Michael), Vachon, C. M. (Celine M.), van Veen, E. M. (Elke M.), Vijai, J. (Joseph), Weinberg, C. R. (Clarice R.), Wendt, C. (Camilla), Whittemore, A. S. (Alice S.), Wildiers, H. (Hans), Willett, W. (Walter), Winqvist, R. (Robert), Wolk, A. (Alicja), Yang, X. R. (Xiaohong R.), Yannoukakos, D. (Drakoulis), Zhang, Y. (Yan), Zheng, W. (Wei), Ziogas, A. (Argyrios), Clarke, C. (Christine), Balleine, R. (Rosemary), Baxter, R. (Robert), Braye, S. (Stephen), Carpenter, J. (Jane), Dahlstrom, J. (Jane), Forbes, J. (John), Lee, C. S. (C. Soon), Marsh, D. (Deborah), Morey, A. (Adrienne), Pathmanathan, N. (Nirmala), Scott, R. (Rodney), Simpson, P. (Peter), Spigelman, A. (Allan), Wilcken, N. (Nicholas), Yip, D. (Desmond), Zeps, N. (Nikolajs), Sexton, A. (Adrienne), Dobrovic, A. (Alex), Christian, A. (Alice), Trainer, A. (Alison), Fellows, A. (Andrew), Shelling, A. (Andrew), De Fazio, A. (Anna), Blackburn, A. (Anneke), Crook, A. (Ashley), Meiser, B. (Bettina), Patterson, B. (Briony), Clarke, C. (Christobel), Saunders, C. (Christobel), Hunt, C. (Clare), Scott, C. (Clare), Amor, D. (David), Ortega, D. G. (David Gallego), Marsh, D. (Deb), Edkins, E. (Edward), Salisbury, E. (Elizabeth), Haan, E. (Eric), Macrea, F. (Finlay), Farshid, G. (Gelareh), Lindeman, G. (Geoff), Trench, G. (Georgia), Mann, G. (Graham), Giles, G. (Graham), Gill, G. (Grantley), Thorne, H. (Heather), Campbell, I. (Ian), Hickie, I. (Ian), Caldon, L. (Liz), Winship, I. (Ingrid), Cui, J. (James), Flanagan, J. (James), Kollias, J. (James), Visvader, J. (Jane), Taylor, J. (Jessica), Burke, J. (Jo), Saunus, J. (Jodi), Forbs, J. (John), Hopper, J. (John), Beesley, J. (Jonathan), Kirk, J. (Judy), French, J. (Juliet), Tucker, K. (Kathy), Wu, K. (Kathy), Phillips, K. (Kelly), Forrest, L. (Laura), Lipton, L. (Lara), Andrews, L. (Leslie), Lobb, L. (Lizz), Walker, L. (Logan), Kentwell, M. (Maira), Spurdle, M. (Mandy), Cummings, M. (Margaret), Gleeson, M. (Margaret), Harris, M. (Marion), Jenkins, M. (Mark), Young, M. A. (Mary Anne), Delatycki, M. (Martin), Wallis, M. (Mathew), Burgess, M. (Matthew), Brown, M. (Melissa), Southey, M. (Melissa), Bogwitz, M. (Michael), Field, M. (Michael), Friedlander, M. (Michael), Gattas, M. (Michael), Saleh, M. (Mona), Aghmesheh, M. (Morteza), Hayward, N. (Nick), Pachter, N. (Nick), Cohen, P. (Paul), Duijf, P. (Pascal), James, P. (Paul), Simpson, P. (Pete), Fong, P. (Peter), Butow, P. (Phyllis), Williams, R. (Rachael), Kefford, R. (Rick), Simard, J. (Jacques), Balleine, R.-M. (Rose-Mary), Dawson, S.-J. (Sarah-Jane), Lok, S. (Sheau), O'connell, S. (Shona), Greening, S. (Sian), Nightingale, S. (Sophie), Edwards, S. (Stacey), Fox, S. (Stephen), McLachlan, S.-A. (Sue-Anne), Lakhani, S. (Sunil), Dudding, T. (Tracy), Antill, Y. (Yoland), Sahlberg, K. K. (Kristine K.), Ottestad, L. (Lars), Karesen, R. (Rolf), Schlichting, E. (Ellen), Holmen, M. M. (Marit Muri), Sauer, T. (Toril), Haakensen, V. (Vilde), Engebraten, O. (Olav), Naume, B. (Bjorn), Fossa, A. (Alexander), Kiserud, C. E. (Cecile E.), Reinertsen, K. V. (Kristin, V), Helland, A. (Aslaug), Riis, M. (Margit), Geisler, J. (Juergen), Dunning, A. M. (Alison M.), Thompson, D. J. (Deborah J.), Chenevix-Trench, G. (Georgia), Chang-Claude, J. (Jenny), Schmidt, M. K. (Marjanka K.), Hall, P. (Per), Milne, R. L. (Roger L.), Pharoah, P. D. (Paul D. P.), Antoniou, A. C. (Antonis C.), Chatterjee, N. (Nilanjan), Kraft, P. (Peter), Garcia-Closas, M. (Montserrat), and Easton, D. F. (Douglas F.)
Abstract: Stratification of women according to their risk of breast cancer based on polygenic risk scores (PRSs) could improve screening and prevention strategies. Our aim was to develop PRSs, optimized for prediction of estrogen receptor (ER)-specific disease, from the largest available genome-wide association dataset and to empirically validate the PRSs in prospective studies. The development dataset comprised 94,075 case subjects and 75,017 control subjects of European ancestry from 69 studies, divided into training and validation sets. Samples were genotyped using genome-wide arrays, and single-nucleotide polymorphisms (SNPs) were selected by stepwise regression or lasso penalized regression. The best performing PRSs were validated in an independent test set comprising 11,428 case subjects and 18,323 control subjects from 10 prospective studies and 190,040 women from UK Biobank (3,215 incident breast cancers). For the best PRSs (313 SNPs), the odds ratio for overall disease per 1 standard deviation in ten prospective studies was 1.61 (95%CI: 1.57–1.65) with area under receiver-operator curve (AUC) = 0.630 (95%CI: 0.628–0.651). The lifetime risk of overall breast cancer in the top centile of the PRSs was 32.6%. Compared with women in the middle quintile, those in the highest 1% of risk had 4.37- and 2.78-fold risks, and those in the lowest 1% of risk had 0.16- and 0.27-fold risks, of developing ER-positive and ER-negative disease, respectively. Goodness-of-fit tests indicated that this PRS was well calibrated and predicts disease risk accurately in the tails of the distribution. This PRS is a powerful and reliable predictor of breast cancer risk that may improve breast cancer prevention programs.
Published: 2019

24. Analysis of circulating tumour DNA (ctDNA) from patients enrolled in the IDEA-FRANCE phase III trial: Prognostic and predictive value for adjuvant treatment duration

Author: Taieb, J., primary, Taly, V., additional, Vernerey, D., additional, Bourreau, C., additional, Bennouna, J., additional, Faroux, R., additional, Desrame, J., additional, Bouche, O., additional, Borg, C., additional, Egreteau, J., additional, Mineur, L., additional, Lepere, C., additional, Deplanque, G., additional, Mulot, C., additional, Louvet, C., additional, Mabro, M., additional, Ychou, M., additional, de Gramont, A., additional, Andre, T., additional, and Laurent-Puig, P., additional
Published: 2019
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25. Fine-mapping of prostate cancer susceptibility loci in a large meta-analysis identifies candidate causal variants.

Author: Stampfer M., Ranu H., Hicks B., Vogt A., Cox A., Davis M., Brown P., George A., Marsden G., Lane A., Lewis S.J., Berry C., Kulkarni G.S., Toi A., Evans A., Zlotta A.R., Van Der Kwast T.H., Imai T., Saito S., Marzec J., Cao G., Lin J., Li M., Zhao S.-C., Ren G., Yu Y., Wu Y., Wu J., Zhou B., Zhang Y., Li J., He W., Guo J., Pedersen J., Hopper J.L., Milne R., Klim A., Carballo A., Lobato-Busto R., Peleteiro P., Calvo P., Aguado M., Ruiz-Dominguez J.M., Cecchini L., Mengual L., Alcaraz A., Bustamante M., Gracia-Lavedan E., Dierssen-Sotos T., Gomez-Acebo I., Pow-Sang J., Park H., Zachariah B., Kluzniak W., Kolb S., Klarskov P., Stegmaier C., Vogel W., Herkommer K., Bohnert P., Maia S., Silva M.P., De Langhe S., Thierens H., Tan M.H., Ong A.T., Kastelan Z., Popov E., Kachakova D., Mitkova A., Vlahova A., Dikov T., Christova S., Carracedo A., Bangma C., Schroder F.H., Cenee S., Tretarre B., Rebillard X., Mulot C., Sanchez M., Adolfsson J., Stattin P., Johansson J.-E., Cavalli-Bjoerkman C., Karlsson A., Broms M., Wu H., Tillmans L., Riska S., Freedman M., Wiklund F., Chanock S., Henderson B.E., Easton D.F., Haiman C.A., Eeles R.A., Conti D.V., Kote-Jarai Z., Hutchinson A., Ling J., Papargiris M., Dadaev T., Saunders E.J., Newcombe P.J., Anokian E., Leongamornlert D.A., Brook M.N., Cieza-Borrella C., Mijuskovic M., Wakerell S., Olama A.A.A., Schumacher F.R., Berndt S.I., Benlloch S., Ahmed M., Goh C., Sheng X., Zhang Z., Muir K., Govindasami K., Lophatananon A., Stevens V.L., Gapstur S.M., Carter B.D., Tangen C.M., Goodman P., Thompson I.M., Batra J., Chambers S., Moya L., Clements J., Horvath L., Tilley W., Risbridger G., Gronberg H., Aly M., Nordstrom T., Pharoah P., Pashayan N., Schleutker J., Tammela T.L.J., Sipeky C., Auvinen A., Albanes D., Weinstein S., Wolk A., Hakansson N., West C., Dunning A.M., Burnet N., Mucci L., Giovannucci E., Andriole G., Cussenot O., Cancel-Tassin G., Koutros S., Freeman L.E.B., Sorensen K.D., Orntoft T.F., Borre M., Maehle L., Grindedal E.M., Neal D.E., Donovan J.L., Hamdy F.C., Martin R.M., Travis R.C., Key T.J., Hamilton R.J., Fleshner N.E., Finelli A., Ingles S.A., Stern M.C., Rosenstein B., Kerns S., Ostrer H., Lu Y.-J., Zhang H.-W., Feng N., Mao X., Guo X., Wang G., Sun Z., Giles G.G., Southey M.C., MacInnis R.J., Fitzgerald L.M., Kibel A.S., Drake B.F., Vega A., Gomez-Caamano A., Fachal L., Szulkin R., Eklund M., Kogevinas M., Llorca J., Castano-Vinyals G., Penney K.L., Park J.Y., Sellers T.A., Lin H.-Y., Stanford J.L., Cybulski C., Wokolorczyk D., Lubinski J., Ostrander E.A., Geybels M.S., Nordestgaard Bo.G., Nielsen S.F., Weisher M., Bisbjerg R., Roder M.A., Iversen P., Brenner H., Cuk K., Holleczek B., Maier C., Luedeke M., Schnoeller T., Kim J., Logothetis C.J., John E.M., Teixeira M.R., Paulo P., Cardoso M., Neuhausen S.L., Steele L., Ding Y.C., De Ruyck K., De Meerleer G., Ost P., Razack A., Lim J., Teo S.-H., Lin D.W., Newcomb L.F., Lessel D., Gamulin M., Kulis T., Kaneva R., Usmani N., Slavov C., Mitev V., Parliament M., Singhal S., Claessens F., Joniau S., Van Den Broeck T., Larkin S., Townsend P.A., Aukim-Hastie C., Gago-Dominguez M., Castelao J.E., Martinez M.E., Roobol M.J., Jenster G., Van Schaik R.H.N., Menegaux F., Truong T., Koudou Y.A., Xu J., Khaw K.-T., Cannon-Albright L., Pandha H., Michael A., Kierzek A., Thibodeau S.N., McDonnell S.K., Schaid D.J., Lindstrom S., Turman C., Ma J., Hunter D.J., Riboli E., Siddiq A., Canzian F., Kolonel L.N., Le Marchand L., Hoover R.N., Machiela M.J., Kraft P., Cook M., Thwaites A., Guy M., Whitmore I., Morgan A., Fisher C., Hazel S., Livni N., Spurdle A., Srinivasan S., Kedda M.-A., Aitken J., Gardiner R., Hayes V., Butler L., Taylor R., Yeadon T., Eckert A., Saunders P., Haynes A.-M., Kujala P., Talala K., Murtola T., Taari K., Dearnaley D., Barnett G., Bentzen So., Elliott R., Stampfer M., Ranu H., Hicks B., Vogt A., Cox A., Davis M., Brown P., George A., Marsden G., Lane A., Lewis S.J., Berry C., Kulkarni G.S., Toi A., Evans A., Zlotta A.R., Van Der Kwast T.H., Imai T., Saito S., Marzec J., Cao G., Lin J., Li M., Zhao S.-C., Ren G., Yu Y., Wu Y., Wu J., Zhou B., Zhang Y., Li J., He W., Guo J., Pedersen J., Hopper J.L., Milne R., Klim A., Carballo A., Lobato-Busto R., Peleteiro P., Calvo P., Aguado M., Ruiz-Dominguez J.M., Cecchini L., Mengual L., Alcaraz A., Bustamante M., Gracia-Lavedan E., Dierssen-Sotos T., Gomez-Acebo I., Pow-Sang J., Park H., Zachariah B., Kluzniak W., Kolb S., Klarskov P., Stegmaier C., Vogel W., Herkommer K., Bohnert P., Maia S., Silva M.P., De Langhe S., Thierens H., Tan M.H., Ong A.T., Kastelan Z., Popov E., Kachakova D., Mitkova A., Vlahova A., Dikov T., Christova S., Carracedo A., Bangma C., Schroder F.H., Cenee S., Tretarre B., Rebillard X., Mulot C., Sanchez M., Adolfsson J., Stattin P., Johansson J.-E., Cavalli-Bjoerkman C., Karlsson A., Broms M., Wu H., Tillmans L., Riska S., Freedman M., Wiklund F., Chanock S., Henderson B.E., Easton D.F., Haiman C.A., Eeles R.A., Conti D.V., Kote-Jarai Z., Hutchinson A., Ling J., Papargiris M., Dadaev T., Saunders E.J., Newcombe P.J., Anokian E., Leongamornlert D.A., Brook M.N., Cieza-Borrella C., Mijuskovic M., Wakerell S., Olama A.A.A., Schumacher F.R., Berndt S.I., Benlloch S., Ahmed M., Goh C., Sheng X., Zhang Z., Muir K., Govindasami K., Lophatananon A., Stevens V.L., Gapstur S.M., Carter B.D., Tangen C.M., Goodman P., Thompson I.M., Batra J., Chambers S., Moya L., Clements J., Horvath L., Tilley W., Risbridger G., Gronberg H., Aly M., Nordstrom T., Pharoah P., Pashayan N., Schleutker J., Tammela T.L.J., Sipeky C., Auvinen A., Albanes D., Weinstein S., Wolk A., Hakansson N., West C., Dunning A.M., Burnet N., Mucci L., Giovannucci E., Andriole G., Cussenot O., Cancel-Tassin G., Koutros S., Freeman L.E.B., Sorensen K.D., Orntoft T.F., Borre M., Maehle L., Grindedal E.M., Neal D.E., Donovan J.L., Hamdy F.C., Martin R.M., Travis R.C., Key T.J., Hamilton R.J., Fleshner N.E., Finelli A., Ingles S.A., Stern M.C., Rosenstein B., Kerns S., Ostrer H., Lu Y.-J., Zhang H.-W., Feng N., Mao X., Guo X., Wang G., Sun Z., Giles G.G., Southey M.C., MacInnis R.J., Fitzgerald L.M., Kibel A.S., Drake B.F., Vega A., Gomez-Caamano A., Fachal L., Szulkin R., Eklund M., Kogevinas M., Llorca J., Castano-Vinyals G., Penney K.L., Park J.Y., Sellers T.A., Lin H.-Y., Stanford J.L., Cybulski C., Wokolorczyk D., Lubinski J., Ostrander E.A., Geybels M.S., Nordestgaard Bo.G., Nielsen S.F., Weisher M., Bisbjerg R., Roder M.A., Iversen P., Brenner H., Cuk K., Holleczek B., Maier C., Luedeke M., Schnoeller T., Kim J., Logothetis C.J., John E.M., Teixeira M.R., Paulo P., Cardoso M., Neuhausen S.L., Steele L., Ding Y.C., De Ruyck K., De Meerleer G., Ost P., Razack A., Lim J., Teo S.-H., Lin D.W., Newcomb L.F., Lessel D., Gamulin M., Kulis T., Kaneva R., Usmani N., Slavov C., Mitev V., Parliament M., Singhal S., Claessens F., Joniau S., Van Den Broeck T., Larkin S., Townsend P.A., Aukim-Hastie C., Gago-Dominguez M., Castelao J.E., Martinez M.E., Roobol M.J., Jenster G., Van Schaik R.H.N., Menegaux F., Truong T., Koudou Y.A., Xu J., Khaw K.-T., Cannon-Albright L., Pandha H., Michael A., Kierzek A., Thibodeau S.N., McDonnell S.K., Schaid D.J., Lindstrom S., Turman C., Ma J., Hunter D.J., Riboli E., Siddiq A., Canzian F., Kolonel L.N., Le Marchand L., Hoover R.N., Machiela M.J., Kraft P., Cook M., Thwaites A., Guy M., Whitmore I., Morgan A., Fisher C., Hazel S., Livni N., Spurdle A., Srinivasan S., Kedda M.-A., Aitken J., Gardiner R., Hayes V., Butler L., Taylor R., Yeadon T., Eckert A., Saunders P., Haynes A.-M., Kujala P., Talala K., Murtola T., Taari K., Dearnaley D., Barnett G., Bentzen So., and Elliott R.
Abstract: Prostate cancer is a polygenic disease with a large heritable component. A number of common, low-penetrance prostate cancer risk loci have been identified through GWAS. Here we apply the Bayesian multivariate variable selection algorithm JAM to fine-map 84 prostate cancer susceptibility loci, using summary data from a large European ancestry meta-analysis. We observe evidence for multiple independent signals at 12 regions and 99 risk signals overall. Only 15 original GWAS tag SNPs remain among the catalogue of candidate variants identified; the remainder are replaced by more likely candidates. Biological annotation of our credible set of variants indicates significant enrichment within promoter and enhancer elements, and transcription factor-binding sites, including AR, ERG and FOXA1. In 40 regions at least one variant is colocalised with an eQTL in prostate cancer tissue. The refined set of candidate variants substantially increase the proportion of familial relative risk explained by these known susceptibility regions, which highlights the importance of fine-mapping studies and has implications for clinical risk profiling.Copyright © 2018 The Author(s).
Published: 2018

26. miR-31 as a prognostic and predictive marker of disease-free survival (DFS) in resected stage III colon cancer: A retrospective analysis of the PETACC-8 trial

Author: Gaston Mathe, Y., primary, Martin-Lannerée, S., additional, Vazart, C., additional, Fontaine, K., additional, Mulot, C., additional, Caumont, A., additional, Montestruc, F., additional, Le Malicot, K., additional, Lepage, C., additional, Taieb, J., additional, and Laurent-Puig, P., additional
Published: 2018
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27. A “chamber of errors” adaptation to assess pharmaceutical assistants’ knowledge in chemotherapy preparation

Author: Loboda, C, primary, Vigneron, J, additional, Mulot, C, additional, May, I, additional, and Demore, B, additional
Published: 2017
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28. Identification and characterization of novel associations in the CASP8/ALS2CR12 region on chromosome 2 with breast cancer risk

Author: Lin, W.Y., Camp, N.J., Ghoussaini, M., Beesley, J., Michailidou, K., Hopper, J.L., Apicella, C., Southey, M.C., Stone, J., Schmidt, M.K., Broeks, A., Van't Veer, L.J., Rutgers, E.J.T., Muir, K., Lophatananon, A., Stewart-Brown, S., Siriwanarangsan, P., Fasching, P.A., Haeberle, L., Ekici, A.B., Beckmann, M.W., Peto, J., Dos-Santos-Silva, I., Fletcher, O., Johnson, N., Bolla, M.K., Wang, Q., Dennis, J., Sawyer, E.J., Cheng, T., Tomlinson, I., Kerin, M.J., Miller, N., Marme, F., Surowy, H.M., Burwinkel, B., Guenel, P., Truong, T., Menegaux, F., Mulot, C., Bojesen, S.E., Nordestgaard, B.G., Nielsen, S.F., Flyger, H., Benitez, J., Zamora, M.P., Perez, J.I.A., Menendez, P., Gonzalez-Neira, A., Pita, G., Alonso, M.R., Alvarez, N., Herrera, D., Anton-Culver, H., Brenner, H., Dieffenbach, A.K., Arndt, V., Stegmaier, C., Meindl, A., Lichtner, P., Schmutzler, R.K., Muller-Myhsok, B., Brauch, H., Bruning, T., Ko, Y.D., Tessier, D.C., Vincent, D., Bacot, F., Nevanlinna, H., Aittomaki, K., Blomqvist, C., Khan, S., Matsuo, K., Ito, H., Iwata, H., Horio, A., Bogdanova, N.V., Antonenkova, N.N., Dork, T., Lindblom, A., Margolin, S., Mannermaa, A., Kataja, V., Kosma, V.M., Hartikainen, J.M., Wu, A.H., Tseng, C.C., Berg, D. van den, Stram, D.O., Neven, P., Wauters, E., Wildiers, H., Lambrechts, D., Chang-Claude, J., Rudolph, A., Seibold, P., Flesch-Janys, D., Radice, P., Peterlongo, P., Manoukian, S., Bonanni, B., Couch, F.J., Wang, X.S., Vachon, C., Purrington, K., Giles, G.G., Milne, R.L., Mclean, C., Haiman, C.A., Henderson, B.E., Schumacher, F., Marchand, L. le, Simard, J., Goldberg, M.S., Labreche, F., Dumont, M., Teo, S.H., Yip, C.H., Hassan, N., Vithana, E.N., Kristensen, V., Zheng, W., Deming-Halverson, S., Shrubsole, M.J., Long, J.R., Winqvist, R., Pylkas, K., Jukkola-Vuorinen, A., Kauppila, S., Andrulis, I.L., Knight, J.A., Glendon, G., Tchatchou, S., Devilee, P., Tollenaar, R.A.E.M., Seynaeve, C., Asperen, C.J. van, Garcia-Closas, M., Figueroa, J., Lissowska, J., Brinton, L., Czene, K., Darabi, H., Eriksson, M., Brand, J.S., Hooning, M.J., Hollestelle, A., Ouweland, A.M.W. van den, Jager, A., Li, J.M., Liu, J.J., Humphreys, K., Shu, X.O., Lu, W., Gao, Y.T., Cai, H., Cross, S.S., Reed, M.W.R., Blot, W., Signorello, L.B., Cai, Q.Y., Pharoah, P.D.P., Perkins, B., Shah, M., Blows, F.M., Kang, D., Yoo, K.Y., Noh, D.Y., Hartman, M., Miao, H., Chia, K.S., Putti, T.C., Hamann, U., Luccarini, C., Baynes, C., Ahmed, S., Maranian, M., Healey, C.S., Jakubowska, A., Lubinski, J., Jaworska-Bieniek, K., Durda, K., Sangrajrang, S., Gaborieau, V., Brennan, P., Mckay, J., Slager, S., Toland, A.E., Yannoukakos, D., Shen, C.Y., Hsiung, C.N., Wu, P.E., Ding, S.L., Ashworth, A., Jones, M., Orr, N., Swerdlow, A.J., Tsimiklis, H., Makalic, E., Schmidt, D.F., Bui, Q.M., Chanock, S.J., Hunter, D.J., Hein, R., Dahmen, N., Beckmann, L., Aaltonen, K., Muranen, T.A., Heikkinen, T., Irwanto, A., Rahman, N., Turnbull, C.A., Waisfisz, Q., Meijers-Heijboer, H.E.J., Adank, M.A., Luijt, R.B. van der, Hall, P., Chenevix-Trench, G., Dunning, A., Easton, D.F., Cox, A., GENICA Network, kConFab Investigators, Australian Ovarian Canc Study Grp, Breast Ovarian Canc Susceptibility, Clinical Genetics, Obstetrics & Gynecology, Medical Oncology, Cardiothoracic Surgery, Cancer Center Amsterdam, Amsterdam Reproduction & Development (AR&D), Human Genetics, Human genetics, CCA - Oncogenesis, Ghoussaini, Maya [0000-0002-2415-2143], Wang, Jean [0000-0002-9139-0627], Dennis, Joe [0000-0003-4591-1214], Pharoah, Paul [0000-0001-8494-732X], Dunning, Alison [0000-0001-6651-7166], Easton, Douglas [0000-0003-2444-3247], and Apollo - University of Cambridge Repository
Subjects: Genotyping Techniques, Research Support, U.S. Gov't, P.H.S, CASP8 and FADD-Like Apoptosis Regulating Protein, Genome-wide association study, P.H.S, Medical and Health Sciences, Breast and Ovarian Cancer Susceptibility (BOCS) Study, Medizinische Fakultät, Genetics(clinical), Non-U.S. Gov't, Genetics (clinical), Genetics, Genetics & Heredity, variants, Caspase 8, Research Support, Non-U.S. Gov't, Association Studies Articles, General Medicine, Biological Sciences, ddc, Chromosomes, Human, Pair 2, kConFab Investigators, Female, GENICA Network, Australian Ovarian Cancer Study Group, European Continental Ancestry Group, Non-P.H.S, Single-nucleotide polymorphism, Breast Neoplasms, Biology, Research Support, Polymorphism, Single Nucleotide, White People, N.I.H, Breast cancer, Research Support, N.I.H., Extramural, SDG 3 - Good Health and Well-being, medicine, Journal Article, Humans, Genetic Predisposition to Disease, ddc:610, gene, Genotyping, Molecular Biology, Genetic association, disease, Extramural, Proteins, Odds ratio, medicine.disease, susceptibility loci, Minor allele frequency, Case-Control Studies, genome-wide association, enhancers, U.S. Gov't, casp8, Research Support, U.S. Gov't, Non-P.H.S, Genome-Wide Association Study
Abstract: Previous studies have suggested that polymorphisms in CASP8 on chromosome 2 are associated with breast cancer risk. To clarify the role of CASP8 in breast cancer susceptibility, we carried out dense genotyping of this region in the Breast Cancer Association Consortium (BCAC). Single-nucleotide polymorphisms (SNPs) spanning a 1 Mb region around CASP8 were genotyped in 46 450 breast cancer cases and 42 600 controls of European origin from 41 studies participating in the BCAC as part of a custom genotyping array experiment (iCOGS). Missing genotypes and SNPs were imputed and, after quality exclusions, 501 typed and 1232 imputed SNPs were included in logistic regressionmodels adjusting for study and ancestry principal components. The SNPs retained in the final model were investigated further in data from nine genome-wide association studies (GWAS) comprising in total 10 052 case and 12 575 control subjects. The most significant association signal observed in European subjects was for the imputed intronic SNP rs1830298 in ALS2CR12 (telomeric to CASP8), with per allele odds ratio and 95% confidence interval [OR (95% confidence interval, CI)] for the minor allele of 1.05 (1.03-1.07), P = 1 × 10-5. Three additional independent signals from intronic SNPs were identified, in CASP8 (rs36043647), ALS2CR11 (rs59278883) and CFLAR (rs7558475). The association with rs1830298 was replicated in the imputed results from the combined GWAS (P=3 × 10-6), yielding a combined OR (95% CI) of 1.06 (1.04-1.08), P = 1 × 10-9. Analyses of gene expression associations in peripheral blood and normal breast tissue indicate that CASP8might be the target gene, suggesting amechanism involving apoptosis.
Published: 2016

29. Prognostic value of methylator phenotype in stage III colon cancer treated with oxaliplatin-based adjuvant chemotherapy

Author: Gallois, C., primary, Taieb, J., additional, Le Corre, D., additional, Le Malicot, K., additional, Tabernero, J., additional, Mulot, C., additional, Seitz, J.-F., additional, Aparicio, T., additional, Folprecht, G., additional, Lepage, C., additional, Mini, E., additional, Van Laethem, J.-L., additional, Emile, J.F., additional, and Laurent-Puig, P., additional
Published: 2017
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30. A "chamber of errors" adaptation to assess pharmaceutical assistants' knowledge in chemotherapy preparation.

Author: Loboda, C., Vigneron, J., Mulot, C., May, I., and Demore, B.
Subjects: ANTINEOPLASTIC agents, CANCER patient medical care, MEDICAL protocols, PHYSICIANS' assistants, HEALTH literacy, ADVERSE health care events, CHEMORADIOTHERAPY
Abstract: French preparation guidelines state that pharmacy staff who manipulate cytotoxic drugs have to follow specific training. In order to assess the pharmaceutical assistants' skills and knowledge, we developed a "Cytotoxic Preparation Centralized Unit (CPCU) of errors," derived from the Canadian concept of "Chamber of horrors." A table listing 20 mistakes to track down was created and each pharmaceutical assistant spent 20 min in the "CPCU of errors" with the pharmacist, who wrote down the spotted mistakes in real time. Among the 21 trained pharmaceutical assistants, 15 were evaluated. On average, 11.9 mistakes on 20 were detected. The lowest score was 7 spotted errors on 20 and the highest was 16 on 20. Those results should be qualified depending on pharmaceutical assistants' years of experience in the preparation of chemotherapy. Those results may be explained by the way the role-playing was conducted. The simulation was not conducted during an actual preparation using the usual equipment. One of the major obstacles was the difficulty to clear some time for this project because its realization required a full-time pharmacist and the referring pharmaceutical assistant in addition to the evaluated pharmaceutical assistants. Overall, the staff feedback was positive and the role-playing led to a reminder of theoretical knowledge and the good use of some devices. It would be interesting to develop this type of project through a regional oncology network to create a medium that can be used by other hospitals. [ABSTRACT FROM AUTHOR]
Published: 2019
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31. LBA30_PR - Analysis of circulating tumour DNA (ctDNA) from patients enrolled in the IDEA-FRANCE phase III trial: Prognostic and predictive value for adjuvant treatment duration

Author: Taieb, J., Taly, V., Vernerey, D., Bourreau, C., Bennouna, J., Faroux, R., Desrame, J., Bouche, O., Borg, C., Egreteau, J., Mineur, L., Lepere, C., Deplanque, G., Mulot, C., Louvet, C., Mabro, M., Ychou, M., de Gramont, A., Andre, T., and Laurent-Puig, P.
Published: 2019
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32. Common non-synonymous SNPs associated with breast cancer susceptibility: findings from the Breast Cancer Association Consortium

Author: Milne, R.L., Burwinkel, B., Michailidou, K., Arias-Perez, J.I., Zamora, M.P., Menendez-Rodriguez, P., Hardisson, D., Mendiola, M., Gonzalez-Neira, A., Pita, G., Alonso, M.R., Dennis, J., Wang, Q., Bolla, M.K., Swerdlow, A., Ashworth, A., Orr, N., Schoemaker, M., Ko, Y.D., Brauch, H., Hamann, U., Andrulis, I.L., Knight, J.A., Glendon, G., Tchatchou, S., Matsuo, K., Ito, H., Iwata, H., Tajima, K., Li, J.M., Brand, J.S., Brenner, H., Dieffenbach, A.K., Arndt, V., Stegmaier, C., Lambrechts, D., Peuteman, G., Christiaens, M.R., Smeets, A., Jakubowska, A., Lubinski, J., Jaworska-Bieniek, K., Durda, K., Hartman, M., Hui, M., Lim, W.Y., Chan, C.W., Marme, F., Yang, R.X., Bugert, P., Lindblom, A., Margolin, S., Garcia-Closas, M., Chanock, S.J., Lissowska, J., Figueroa, J.D., Bojesen, S.E., Nordestgaard, B.G., Flyger, H., Hooning, M.J., Kriege, M., Ouweland, A.M.W. van den, Koppert, L.B., Fletcher, O., Johnson, N., Dos-Santos-Silva, I., Peto, J., Zheng, W., Deming-Halverson, S., Shrubsole, M.J., Long, J.R., Chang-Claude, J., Rudolph, A., Seibold, P., Flesch-Janys, D., Winqvist, R., Pylkas, K., Jukkola-Vuorinen, A., Grip, M., Cox, A., Cross, S.S., Reed, M.W.R., Schmidt, M.K., Broeks, A., Cornelissen, S., Braaf, L., Kang, D., Choi, J.Y., Park, S.K., Noh, D.Y., Simard, J., Dumont, M., Goldberg, M.S., Labreche, F., Fasching, P.A., Hein, A., Ekici, A.B., Beckmann, M.W., Radice, P., Peterlongo, P., Azzollini, J., Barile, M., Sawyer, E., Tomlinson, I., Kerin, M., Miller, N., Hopper, J.L., Schmidt, D.F., Makalic, E., Southey, M.C., Teo, S.H., Yip, C.H., Sivanandan, K., Tay, W.T., Shen, C.Y., Hsiung, C.N., Yu, J.C., Hou, M.F., Guenel, P., Truong, T., Sanchez, M., Mulot, C., Blot, W., Cai, Q.Y., Nevanlinna, H., Muranen, T.A., Aittomaki, K., Blomqvist, C., Wu, A.H., Tseng, C.C., Berg, D. van den, Stram, D.O., Bogdanova, N., Dork, T., Muir, K., Lophatananon, A., Stewart-Brown, S., Siriwanarangsan, P., Mannermaa, A., Kataja, V., Kosma, V.M., Hartikainen, J.M., Shu, X.O., Lu, W., Gao, Y.T., Zhang, B., Couch, F.J., Toland, A.E., Yannoukakos, D., Sangrajrang, S., McKay, J., Wang, X.S., Olson, J.E., Vachon, C., Purrington, K., Severi, G., Baglietto, L., Haiman, C.A., Henderson, B.E., Schumacher, F., Marchand, L. le, Devilee, P., Tollenaar, R.A.E.M., Seynaeve, C., Czene, K., Eriksson, M., Humphreys, K., Darabi, H., Ahmed, S., Shah, M., Pharoah, P.D.P., Hall, P., Giles, G.G., Benitez, J., Dunning, A.M., Chenevix-Trench, G., Easton, D.F., GENICA Network, kConFab Investigators, Australian Ovarian Canc Study Grp, TNBCC, Dennis, Joe [0000-0003-4591-1214], Wang, Jean [0000-0002-9139-0627], Pharoah, Paul [0000-0001-8494-732X], Dunning, Alison [0000-0001-6651-7166], Easton, Douglas [0000-0003-2444-3247], and Apollo - University of Cambridge Repository
Subjects: Adult, Ataxin-7, A Kinase Anchor Proteins, Breast Neoplasms, Nerve Tissue Proteins, Middle Aged, Protein Serine-Threonine Kinases, Polymorphism, Single Nucleotide, Cytoskeletal Proteins, Case-Control Studies, Humans, NIMA-Related Kinases, Female, Genetic Predisposition to Disease, health care economics and organizations, Alleles, Genome-Wide Association Study
Abstract: Candidate variant association studies have been largely unsuccessful in identifying common breast cancer susceptibility\ud variants, although most studies have been underpowered to detect associations of a realistic magnitude.\ud We assessed 41 common non-synonymous single-nucleotide polymorphisms (nsSNPs) for which\ud evidence of association with breast cancer risk had been previously reported. Case-control data were combined\ud from 38 studies of white European women (46 450 cases and 42 600 controls) and analyzed using unconditional\ud logistic regression. Strong evidence of association was observed for three nsSNPs: ATXN7-K264R at 3p21\ud [rs1053338, per allele OR 5 1.07, 95% confidence interval (CI) 5 1.04–1.10, P 5 2.9 3 1026\ud ], AKAP9-M463I at\ud 7q21 (rs6964587, OR 5 1.05, 95% CI 5 1.03–1.07, P 5 1.7 3 1026\ud ) and NEK10-L513S at 3p24 (rs10510592,\ud OR 5 1.10, 95% CI 5 1.07 –1.12, P 5 5.1 3 10217). The first two associations reached genome-wide statistical\ud significance in a combined analysis of available data, including independent data from nine genome-wide association\ud studies (GWASs): for ATXN7-K264R, OR 5 1.07 (95% CI 5 1.05–1.10, P 5 1.0 3 1028\ud ); for AKAP9-M463I,\ud OR 5 1.05 (95% CI 5 1.04–1.07, P 5 2.0 3 10210). Further analysis of other common variants in these two\ud regions suggested that intronic SNPs nearby are more strongly associated with disease risk. We have thus identified\ud a novel susceptibility locus at 3p21, and confirmed previous suggestive evidence that rs6964587 at 7q21 is\ud associated with risk. The third locus, rs10510592, is located in an established breast cancer susceptibility\ud region; the association was substantially attenuated after adjustment for the known GWAS hit. Thus, each of\ud the associated nsSNPs is likely to be a marker for another, non-coding, variant causally related to breast\ud cancer risk. Further fine-mapping and functional studies are required to identify the underlying risk-modifying\ud variants and the genes through which they act.
Published: 2014

33. A large-scale assessment of two-way SNP interactions in breast cancer susceptibility using 46,450 cases and 42,461 controls from the breast cancer association consortium

Author: Rl, Milne, Herranz J, Michailidou K, Joe Dennis, Jp, Tyrer, Mp, Zamora, Ji, Arias-Perez, González-Neira A, Pita G, Alonso MR, Wang Q, Mk, Bolla, Czene K, Eriksson M, Humphreys K, Darabi H, Li J, Anton-Culver H, Sl, Neuhausen, Ziogas A, Ca, Clarke, Jl, Hopper, Gs, Dite, Apicella C, Mc, Southey, Chenevix-Trench G, kConFab Investigators, Australian Ovarian Cancer Study Group, Swerdlow A, Ashworth A, Orr N, Schoemaker M, Jakubowska A, Lubinski J, Jaworska-Bieniek K, Durda K, Il, Andrulis, Ja, Knight, Glendon G, Am, Mulligan, Se, Bojesen, Bg, Nordestgaard, Flyger H, Nevanlinna H, Ta, Muranen, Aittomäki K, Blomqvist C, Chang-Claude J, Rudolph A, Seibold P, Flesch-Janys D, Wang X, Je, Olson, Vachon C, Purrington K, Winqvist R, Pylkäs K, Jukkola-Vuorinen A, Grip M, Am, Dunning, Shah M, Guénel P, Truong T, Sanchez M, Mulot C, Brenner H, Ak, Dieffenbach, Arndt V, Stegmaier C, Lindblom A, Margolin S, Hooning M, Hollestelle A, Collée M, Jager A, Cox A, Iw, Brock, Mw, Reed, Devilee P, Ra, Tollenaar, Seynaeve C, Ca, Haiman, Be, Henderson, Schumacher F, Le Marchand L, Simard J, Dumont M, Soucy P, Dörk T, Nv, Bogdanova, Hamann U, Försti A, Rüdiger T, Hu, Ulmer, Pa, Fasching, Häberle L, Ab, Ekici, Mw, Beckmann, Fletcher O, Johnson N, Id, Silva, Peto J, Radice P, Peterlongo P, Peissel B, Mariani P, Gg, Giles, Severi G, Baglietto L, Sawyer E, Tomlinson I, Kerin M, Miller N, Marme F, Burwinkel B, Mannermaa A, Kataja V, Vm, Kosma, Hartikainen J, Lambrechts D, Bt, Yesilyurt, Floris G, Leunen K, Gg, Alnæs, Kristensen V, Al, Børresen-Dale, García-Closas M, Sj, Chanock, Lissowska J, Jd, Figueroa, Mk, Schmidt, Broeks A, Verhoef S, Ej, Rutgers, Brauch H, Brüning T, Yd, Ko, Genica, The Network, Fj, Couch, Ae, Toland, Tnbcc, The, Yannoukakos D, Pd, Pharoah, Hall P, Benítez J, Malats N, and Df, Easton
Subjects: Australian Ovarian Cancer Study Group, Genetics & Heredity, Breast Neoplasms, Epistasis, Genetic, Biological Sciences, TNBCC, Polymorphism, Single Nucleotide, Medical and Health Sciences, Logistic Models, Case-Control Studies, kConFab Investigators, Humans, Genetic Predisposition to Disease, Female, GENICA Network, Genome-Wide Association Study
Abstract: Part of the substantial unexplained familial aggregation of breast cancer may be due to interactions between common variants, but few studies have had adequate statistical power to detect interactions of realistic magnitude. We aimed to assess all two-way interactions in breast cancer susceptibility between 70,917 single nucleotide polymorphisms (SNPs) selected primarily based on prior evidence of a marginal effect. Thirty-eight international studies contributed data for 46,450 breast cancer cases and 42,461 controls of European origin as part of a multi-consortium project (COGS). First, SNPs were preselected based on evidence (P < 0.01) of a per-allele main effect, and all two-way combinations of those were evaluated by a per-allele (1 d.f.) test for interaction using logistic regression. Second, all 2.5 billion possible two-SNP combinations were evaluated using Boolean operation-based screening and testing, and SNP pairs with the strongest evidence of interaction (P < 10(-4)) were selected for more careful assessment by logistic regression. Under the first approach, 3277 SNPs were preselected, but an evaluation of all possible two-SNP combinations (1 d.f.) identified no interactions at P < 10(-8). Results from the second analytic approach were consistent with those from the first (P > 10(-10)). In summary, we observed little evidence of two-way SNP interactions in breast cancer susceptibility, despite the large number of SNPs with potential marginal effects considered and the very large sample size. This finding may have important implications for risk prediction, simplifying the modelling required. Further comprehensive, large-scale genome-wide interaction studies may identify novel interacting loci if the inherent logistic and computational challenges can be overcome.
Published: 2014

34. MicroRNA related polymorphisms and breast cancer risk

Author: Khan, S., Greco, D., Michailidou, K., Milne, R.L., Muranen, T.A., Heikkinen, T., Aaltonen, K., Dennis, J., Bolla, M.K., Liu, J., Hall, P., Irwanto, A., Humphreys, K., Li, J., Czene, K., Chang-Claude, J., Hein, R., Rudolph, A., Seibold, P., Flesch-Janys, D., Fletcher, O., Peto, J., Silva, I.D., Johnson, N., Gibson, L., Aitken, Z., Hopper, J.L., Tsimiklis, H., Bui, M., Makalic, E., Schmidt, D.F., Southey, M.C., Apicella, C., Stone, J., Waisfisz, Q., Meijers-Heijboer, H., Adank, M.A., Luijt, R.B. van der, Meindl, A., Schmutzler, R.K., Muller-Myhsok, B., Lichtner, P., Turnbull, C., Rahman, N., Chanock, S.J., Hunter, D.J., Cox, A., Cross, S.S., Reed, M.W.R., Schmidt, M.K., Broeks, A., Van't Veer, L.J., Hogervorst, F.B., Fasching, P.A., Schrauder, M.G., Ekici, A.B., Beckmann, M.W., Bojesen, S.E., Nordestgaard, B.G., Nielsen, S.F., Flyger, H., Benitez, J., Zamora, P.M., Perez, J.I.A., Haiman, C.A., Henderson, B.E., Schumacher, F., Marchand, L. le, Pharoah, P.D.P., Dunning, A.M., Shah, M., Luben, R., Brown, J., Couch, F.J., Wang, X., Vachon, C., Olson, J.E., Lambrechts, D., Moisse, M., Paridaens, R., Christiaens, M.R., Guenel, P., Truong, T., Laurent-Puig, P., Mulot, C., Marme, F., Burwinkel, B., Schneeweiss, A., Sohn, C., Sawyer, E.J., Tomlinson, I., Kerin, M.J., Miller, N., Andrulis, I.L., Knight, J.A., Tchatchou, S., Mulligan, A.M., Dork, T., Bogdanova, N.V., Antonenkova, N.N., Anton-Culver, H., Darabi, H., Eriksson, M., Garcia-Closas, M., Figueroa, J., Lissowska, J., Brinton, L., Devilee, P., Tollenaar, R.A.E.M., Seynaeve, C., Asperen, C.J. van, Kristensen, V.N., Slager, S., Toland, A.E., Ambrosone, C.B., Yannoukakos, D., Lindblom, A., Margolin, S., Radice, P., Peterlongo, P., Barile, M., Mariani, P., Hooning, M.J., Martens, J.W.M., Collee, J.M., Jager, A., Jakubowska, A., Lubinski, J., Jaworska-Bieniek, K., Durda, K., Giles, G.G., McLean, C., Brauch, H., Bruning, T., Ko, Y.D., Brenner, H., Dieffenbach, A.K., Arndt, V., Stegmaier, C., Swerdlow, A., Ashworth, A., Orr, N., Jones, M., Simard, J., Goldberg, M.S., Labreche, F., Dumont, M., Winqvist, R., Pylkas, K., Jukkola-Vuorinen, A., Grip, M., Kataja, V., Kosma, V.M., Hartikainen, J.M., Mannermaa, A., Hamann, U., Chenevix-Trench, G., Blomqvist, C., Aittomaki, K., Easton, D.F., Nevanlinna, H., KConFab Investigators, Australian Ovarian Canc Study Grp, GENICA Network, Department of Obstetrics and Gynecology, Clinicum, Department of Oncology, Haartman Institute (-2014), Department of Medical and Clinical Genetics, HUS Gynecology and Obstetrics, Human genetics, CCA - Oncogenesis, Obstetrics & Gynecology, Medical Oncology, Erasmus MC other, and Clinical Genetics
Subjects: Heredity, IDENTIFIES 3, lcsh:Medicine, Estrogen receptor, Genome-wide association study, Bioinformatics, 3123 Gynaecology and paediatrics, HUMAN GENES, lcsh:Science, 3' Untranslated Regions, Multidisciplinary, Research Support, Non-U.S. Gov't, Chromosome Mapping, SINGLE-NUCLEOTIDE POLYMORPHISMS, 3. Good health, Receptors, Estrogen, Female, CASP8 GENE, Research Article, EXPRESSION, Genotype, SUSCEPTIBILITY LOCI, education, 3122 Cancers, MiRNA binding, Single-nucleotide polymorphism, Breast Neoplasms, Biology, Genetic Predisposition, Polymorphism, Single Nucleotide, BINDING-SITES, Breast cancer, REDUCED RISK, Research Support, N.I.H., Extramural, SDG 3 - Good Health and Well-being, microRNA, Genetic predisposition, medicine, Journal Article, Genetics, Cancer Genetics, Humans, GENOME-WIDE ASSOCIATION, Drosha, Genetic Association Studies, Binding Sites, Complex Traits, lcsh:R, Biology and Life Sciences, Computational Biology, Human Genetics, medicine.disease, Research Support, N.I.H., Intramural, COMMON VARIANT, MicroRNAs, Case-Control Studies, Genetics of Disease, lcsh:Q, Research Support, U.S. Gov't, Non-P.H.S, Genome-Wide Association Study
Abstract: Genetic variations, such as single nucleotide polymorphisms (SNPs) in microRNAs (miRNA) or in the miRNA binding sites may affect the miRNA dependent gene expression regulation, which has been implicated in various cancers, including breast cancer, and may alter individual susceptibility to cancer. We investigated associations between miRNA related SNPs and breast cancer risk. First we evaluated 2,196 SNPs in a case-control study combining nine genome wide association studies (GWAS). Second, we further investigated 42 SNPs with suggestive evidence for association using 41,785 cases and 41,880 controls from 41 studies included in the Breast Cancer Association Consortium (BCAC). Combining the GWAS and BCAC data within a meta-analysis, we estimated main effects on breast cancer risk as well as risks for estrogen receptor (ER) and age defined subgroups. Five miRNA binding site SNPs associated significantly with breast cancer risk: rs1045494 (odds ratio (OR) 0.92; 95 confidence interval (CI): 0.88-0.96), rs1052532 (OR 0.97; 95 CI: 0.95-0.99), rs10719 (OR 0.97; 95 Cl: 0.94-0.99), rs4687554 (OR 0.97; 95 CI: 0.95-0.99, and rs3134615 (OR 1.03; 95 CI: 1.01 -1.05) located in the 3' UTR of CASP8, HDDC3, DROSHA, MUSTN1, and MYCL1, respectively. DROSHA belongs to miRNA machinery genes and has a central role in initial miRNA processing. The remaining genes are involved in different molecular functions, including apoptosis and gene expression regulation. Further studies are warranted to elucidate whether the miRNA binding site SNPs are the causative variants for the observed risk effects. This is an open-access article free of all copyright.
Published: 2014

35. Adjuvant FOLFOX+ cetuximab vs FOLFOX in full RAS and BRAF wild type stage III colon cancer patients: Results from the PETACC8 trial

Author: Taieb, J., primary, Le Malicot, K., additional, Balogoum, R., additional, Tabernero, J., additional, Mini, E., additional, Folprecht, G., additional, van Laethem, J.-L., additional, Emile, J.-F., additional, Mulot, C., additional, Fratté, S., additional, Levaché, C.-B., additional, Saban-Roche, L., additional, Thaler, J., additional, Petersen, L. Nørgård, additional, Sanchez, E., additional, Bridgewater, J., additional, Perkins, G., additional, Lepage, C., additional, Zaanan, A., additional, and Laurent-Puig, P., additional
Published: 2016
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36. Genome-wide association analysis of more than 120,000 individuals identifies 15 new susceptibility loci for breast cancer

Author: Michailidou, K. (Kyriaki), Beesley, J. (Jonathan), Lindstrom, S. (Stephen), Canisius, S. (Sander), Dennis, J. (Joe), Lush, M. (Michael), Maranian, M. (Melanie), Bolla, M.K. (Manjeet), Wang, Q. (Qing), Shah, M. (Mitul), Perkins, B. (Barbara), Czene, K. (Kamila), Eriksson, M. (Mikael), Darabi, H. (Hatef), Brand, J.S. (Judith S.), Bojesen, S.E. (Stig), Nordestgaard, B.G. (Børge), Flyger, H. (Henrik), Nielsen, S.F. (Sune), Rahman, N. (Nazneen), Turnbull, C. (Clare), Fletcher, O. (Olivia), Peto, J. (Julian), Gibson, L.J. (Lorna), Santos Silva, I. (Isabel) dos, Chang-Claude, J. (Jenny), Flesch-Janys, D. (Dieter), Rudolph, A. (Anja), Eilber, U. (Ursula), Behrens, T.W. (Timothy), Nevanlinna, H. (Heli), Muranen, T.A. (Taru), Aittomäki, K. (Kristiina), Blomqvist, C. (Carl), Khan, S. (Sofia), Aaltonen, K. (Kirsimari), Ahsan, H. (Habibul), Kibriya, M.G. (Muhammad), Whittemore, A.S. (Alice S.), John, E.M. (Esther M.), Malone, K.E. (Kathleen E.), Gammon, M.D. (Marilie), Santella, R.M. (Regina M.), Ursin, G. (Giske), Makalic, E. (Enes), Schmidt, D.F. (Daniel), Casey, G. (Graham), Hunter, D.J. (David J.), Gapstur, S.M. (Susan M.), Gaudet, M.M. (Mia), Diver, W.R. (Ryan), Haiman, C.A. (Christopher A.), Schumacher, F.R. (Fredrick), Henderson, B.E. (Brian), Le Marchand, L. (Loic), Berg, C.D. (Christine), Chanock, S.J. (Stephen), Figueroa, J.D. (Jonine), Hoover, R.N. (Robert N.), Lambrechts, D. (Diether), Neven, P. (Patrick), Wildiers, H. (Hans), Limbergen, E. (Erik) van, Schmidt, M.K. (Marjanka), Broeks, A. (Annegien), Verhoef, S., Cornelissen, S. (Sten), Couch, F.J. (Fergus), Olson, J.E. (Janet), Hallberg, B. (Boubou), Vachon, C. (Celine), Waisfisz, Q. (Quinten), Meijers-Heijboer, E.J. (Hanne), Adank, M.A. (Muriel), Luijt, R.B. (Rob) van der, Li, J. (Jingmei), Liu, J. (Jianjun), Humphreys, M.K. (Manjeet), Kang, D. (Daehee), Choi, J.-Y. (Ji-Yeob), Park, S.K. (Sue K.), Yoo, K.Y., Matsuo, K. (Keitaro), Ito, H. (Hidemi), Iwata, H. (Hiroji), Tajima, K. (Kazuo), Guénel, P. (Pascal), Truong, T. (Thérèse), Mulot, C. (Claire), Sanchez, M. (Marie), Burwinkel, B. (Barbara), Marme, F. (Federick), Surowy, H. (Harald), Sohn, C. (Christof), Wu, A.H. (Anna H), Tseng, C.-C. (Chiu-chen), Van Den Berg, D. (David), Stram, D.O. (Daniel O.), González-Neira, A. (Anna), Benítez, J. (Javier), Zamora, M.P. (Pilar), Perez, J.I.A. (Jose Ignacio Arias), Shu, X.-O. (Xiao-Ou), Lu, W. (Wei), Gao, Y. (Ying), Cai, H. (Hui), Cox, A. (Angela), Cross, S.S. (Simon), Reed, M.W.R. (Malcolm), Andrulis, I.L. (Irene), Knight, J.A. (Julia), Glendon, G. (Gord), Mulligan, A.-M. (Anna-Marie), Sawyer, E.J. (Elinor), Tomlinson, I.P. (Ian), Kerin, M. (Michael), Miller, N. (Nicola), Lindblom, A. (Annika), Margolin, S. (Sara), Teo, S.H. (Soo Hwang), Yip, C.H. (Cheng Har), Taib, N.A.M. (Nur Aishah Mohd), Tan, G.-H. (Gie-Hooi), Hooning, M.J. (Maartje), Hollestelle, A. (Antoinette), Martens, J.W.M. (John), Collée, J.M. (Margriet), Blot, W.J. (William), Signorello, L.B. (Lisa B.), Cai, Q. (Qiuyin), Hopper, J. (John), Southey, M.C. (Melissa), Tsimiklis, H. (Helen), Apicella, C. (Carmel), Shen, C-Y. (Chen-Yang), Hsiung, C.-N. (Chia-Ni), Wu, P.-E. (Pei-Ei), Hou, M.-F. (Ming-Feng), Kristensen, V. (Vessela), Nord, S. (Silje), Alnæs, G.G. (Grethe), Giles, G.G. (Graham G.), Milne, R.L. (Roger), McLean, C.A. (Catriona Ann), Canzian, F. (Federico), Trichopoulos, D. (Dimitrios), Peeters, P.H.M., Lund, E. (Eiliv), Sund, R. (Reijo), Khaw, K.T., Gunter, M.J. (Marc J.), Palli, D. (Domenico), Mortensen, L.M. (Lotte Maxild), Dossus, L. (Laure), Huerta, J.-M. (Jose-Maria), Meindl, A. (Alfons), Schmutzler, R.K. (Rita), Sutter, C. (Christian), Yang, R. (Rongxi), Muir, K. (Kenneth), Lophatananon, A. (Artitaya), Stewart-Brown, S. (Sarah), Siriwanarangsan, P. (Pornthep), Hartman, J.M. (Joost), Miao, X., Chia, K.S. (Kee Seng), Chan, C.W. (Ching Wan), Fasching, P.A. (Peter), Hein, R. (Rebecca), Beckmann, M.W. (Matthias), Haeberle, L. (Lothar), Brenner, H. (Hermann), Dieffenbach, A.K. (Aida Karina), Arndt, V. (Volker), Stegmaier, C. (Christa), Ashworth, A. (Alan), Orr, N. (Nick), Schoemaker, M. (Minouk), Swerdlow, A.J. (Anthony ), Brinton, L.A. (Louise), García-Closas, M. (Montserrat), Zheng, W. (Wei), Halverson, S.L. (Sandra L.), Shrubsole, M. (Martha), Long, J. (Jirong), Goldberg, M.S. (Mark), Labrèche, F. (France), Dumont, M. (Martine), Winqvist, R. (Robert), Pykäs, K. (Katri), Jukkola-Vuorinen, A. (Arja), Grip, M. (Mervi), Brauch, H. (Hiltrud), Hamann, U. (Ute), Brüning, T. (Thomas), Radice, P. (Paolo), Peterlongo, P. (Paolo), Manoukian, S. (Siranoush), Bernard, L. (Loris), Bogdanova, N.V. (Natalia), Dörk, T. (Thilo), Mannermaa, A. (Arto), Kataja, V. (Vesa), Kosma, V-M. (Veli-Matti), Hartikainen, J.M. (J.), Devilee, P. (Peter), Tollenaar, R.A.E.M. (Rob), Seynaeve, C.M. (Caroline), Asperen, C.J. (Christi) van, Jakubowska, A. (Anna), Lubinski, J. (Jan), Jaworska, K. (Katarzyna), Huzarski, T. (Tomasz), Sangrajrang, S. (Suleeporn), Gaborieau, V. (Valerie), Brennan, P. (Paul), McKay, J.D. (James), Slager, S. (Susan), Toland, A.E. (Amanda), Ambrosone, C.B. (Christine), Yannoukakos, D. (Drakoulis), Kabisch, M. (Maria), Torres, D. (Diana), Neuhausen, S.L. (Susan), Anton-Culver, H. (Hoda), Luccarini, C. (Craig), Baynes, C. (Caroline), Ahmed, S. (Shahana), Healey, S. (Sue), Tessier, D.C. (Daniel C.), Vincent, D. (Daniel), Bacot, F. (Francois), Pita, G. (Guillermo), Alonso, M.R. (Rosario), Álvarez, N. (Nuria), Herrero, D. (Daniel), Simard, J. (Jacques), Pharoah, P.P.D.P. (Paul P.D.P.), Kraft, P. (Peter), Dunning, A.M. (Alison), Chenevix-Trench, G. (Georgia), Hall, P. (Per), Easton, D.F. (Douglas), Michailidou, K. (Kyriaki), Beesley, J. (Jonathan), Lindstrom, S. (Stephen), Canisius, S. (Sander), Dennis, J. (Joe), Lush, M. (Michael), Maranian, M. (Melanie), Bolla, M.K. (Manjeet), Wang, Q. (Qing), Shah, M. (Mitul), Perkins, B. (Barbara), Czene, K. (Kamila), Eriksson, M. (Mikael), Darabi, H. (Hatef), Brand, J.S. (Judith S.), Bojesen, S.E. (Stig), Nordestgaard, B.G. (Børge), Flyger, H. (Henrik), Nielsen, S.F. (Sune), Rahman, N. (Nazneen), Turnbull, C. (Clare), Fletcher, O. (Olivia), Peto, J. (Julian), Gibson, L.J. (Lorna), Santos Silva, I. (Isabel) dos, Chang-Claude, J. (Jenny), Flesch-Janys, D. (Dieter), Rudolph, A. (Anja), Eilber, U. (Ursula), Behrens, T.W. (Timothy), Nevanlinna, H. (Heli), Muranen, T.A. (Taru), Aittomäki, K. (Kristiina), Blomqvist, C. (Carl), Khan, S. (Sofia), Aaltonen, K. (Kirsimari), Ahsan, H. (Habibul), Kibriya, M.G. (Muhammad), Whittemore, A.S. (Alice S.), John, E.M. (Esther M.), Malone, K.E. (Kathleen E.), Gammon, M.D. (Marilie), Santella, R.M. (Regina M.), Ursin, G. (Giske), Makalic, E. (Enes), Schmidt, D.F. (Daniel), Casey, G. (Graham), Hunter, D.J. (David J.), Gapstur, S.M. (Susan M.), Gaudet, M.M. (Mia), Diver, W.R. (Ryan), Haiman, C.A. (Christopher A.), Schumacher, F.R. (Fredrick), Henderson, B.E. (Brian), Le Marchand, L. (Loic), Berg, C.D. (Christine), Chanock, S.J. (Stephen), Figueroa, J.D. (Jonine), Hoover, R.N. (Robert N.), Lambrechts, D. (Diether), Neven, P. (Patrick), Wildiers, H. (Hans), Limbergen, E. (Erik) van, Schmidt, M.K. (Marjanka), Broeks, A. (Annegien), Verhoef, S., Cornelissen, S. (Sten), Couch, F.J. (Fergus), Olson, J.E. (Janet), Hallberg, B. (Boubou), Vachon, C. (Celine), Waisfisz, Q. (Quinten), Meijers-Heijboer, E.J. (Hanne), Adank, M.A. (Muriel), Luijt, R.B. (Rob) van der, Li, J. (Jingmei), Liu, J. (Jianjun), Humphreys, M.K. (Manjeet), Kang, D. (Daehee), Choi, J.-Y. (Ji-Yeob), Park, S.K. (Sue K.), Yoo, K.Y., Matsuo, K. (Keitaro), Ito, H. (Hidemi), Iwata, H. (Hiroji), Tajima, K. (Kazuo), Guénel, P. (Pascal), Truong, T. (Thérèse), Mulot, C. (Claire), Sanchez, M. (Marie), Burwinkel, B. (Barbara), Marme, F. (Federick), Surowy, H. (Harald), Sohn, C. (Christof), Wu, A.H. (Anna H), Tseng, C.-C. (Chiu-chen), Van Den Berg, D. (David), Stram, D.O. (Daniel O.), González-Neira, A. (Anna), Benítez, J. (Javier), Zamora, M.P. (Pilar), Perez, J.I.A. (Jose Ignacio Arias), Shu, X.-O. (Xiao-Ou), Lu, W. (Wei), Gao, Y. (Ying), Cai, H. (Hui), Cox, A. (Angela), Cross, S.S. (Simon), Reed, M.W.R. (Malcolm), Andrulis, I.L. (Irene), Knight, J.A. (Julia), Glendon, G. (Gord), Mulligan, A.-M. (Anna-Marie), Sawyer, E.J. (Elinor), Tomlinson, I.P. (Ian), Kerin, M. (Michael), Miller, N. (Nicola), Lindblom, A. (Annika), Margolin, S. (Sara), Teo, S.H. (Soo Hwang), Yip, C.H. (Cheng Har), Taib, N.A.M. (Nur Aishah Mohd), Tan, G.-H. (Gie-Hooi), Hooning, M.J. (Maartje), Hollestelle, A. (Antoinette), Martens, J.W.M. (John), Collée, J.M. (Margriet), Blot, W.J. (William), Signorello, L.B. (Lisa B.), Cai, Q. (Qiuyin), Hopper, J. (John), Southey, M.C. (Melissa), Tsimiklis, H. (Helen), Apicella, C. (Carmel), Shen, C-Y. (Chen-Yang), Hsiung, C.-N. (Chia-Ni), Wu, P.-E. (Pei-Ei), Hou, M.-F. (Ming-Feng), Kristensen, V. (Vessela), Nord, S. (Silje), Alnæs, G.G. (Grethe), Giles, G.G. (Graham G.), Milne, R.L. (Roger), McLean, C.A. (Catriona Ann), Canzian, F. (Federico), Trichopoulos, D. (Dimitrios), Peeters, P.H.M., Lund, E. (Eiliv), Sund, R. (Reijo), Khaw, K.T., Gunter, M.J. (Marc J.), Palli, D. (Domenico), Mortensen, L.M. (Lotte Maxild), Dossus, L. (Laure), Huerta, J.-M. (Jose-Maria), Meindl, A. (Alfons), Schmutzler, R.K. (Rita), Sutter, C. (Christian), Yang, R. (Rongxi), Muir, K. (Kenneth), Lophatananon, A. (Artitaya), Stewart-Brown, S. (Sarah), Siriwanarangsan, P. (Pornthep), Hartman, J.M. (Joost), Miao, X., Chia, K.S. (Kee Seng), Chan, C.W. (Ching Wan), Fasching, P.A. (Peter), Hein, R. (Rebecca), Beckmann, M.W. (Matthias), Haeberle, L. (Lothar), Brenner, H. (Hermann), Dieffenbach, A.K. (Aida Karina), Arndt, V. (Volker), Stegmaier, C. (Christa), Ashworth, A. (Alan), Orr, N. (Nick), Schoemaker, M. (Minouk), Swerdlow, A.J. (Anthony ), Brinton, L.A. (Louise), García-Closas, M. (Montserrat), Zheng, W. (Wei), Halverson, S.L. (Sandra L.), Shrubsole, M. (Martha), Long, J. (Jirong), Goldberg, M.S. (Mark), Labrèche, F. (France), Dumont, M. (Martine), Winqvist, R. (Robert), Pykäs, K. (Katri), Jukkola-Vuorinen, A. (Arja), Grip, M. (Mervi), Brauch, H. (Hiltrud), Hamann, U. (Ute), Brüning, T. (Thomas), Radice, P. (Paolo), Peterlongo, P. (Paolo), Manoukian, S. (Siranoush), Bernard, L. (Loris), Bogdanova, N.V. (Natalia), Dörk, T. (Thilo), Mannermaa, A. (Arto), Kataja, V. (Vesa), Kosma, V-M. (Veli-Matti), Hartikainen, J.M. (J.), Devilee, P. (Peter), Tollenaar, R.A.E.M. (Rob), Seynaeve, C.M. (Caroline), Asperen, C.J. (Christi) van, Jakubowska, A. (Anna), Lubinski, J. (Jan), Jaworska, K. (Katarzyna), Huzarski, T. (Tomasz), Sangrajrang, S. (Suleeporn), Gaborieau, V. (Valerie), Brennan, P. (Paul), McKay, J.D. (James), Slager, S. (Susan), Toland, A.E. (Amanda), Ambrosone, C.B. (Christine), Yannoukakos, D. (Drakoulis), Kabisch, M. (Maria), Torres, D. (Diana), Neuhausen, S.L. (Susan), Anton-Culver, H. (Hoda), Luccarini, C. (Craig), Baynes, C. (Caroline), Ahmed, S. (Shahana), Healey, S. (Sue), Tessier, D.C. (Daniel C.), Vincent, D. (Daniel), Bacot, F. (Francois), Pita, G. (Guillermo), Alonso, M.R. (Rosario), Álvarez, N. (Nuria), Herrero, D. (Daniel), Simard, J. (Jacques), Pharoah, P.P.D.P. (Paul P.D.P.), Kraft, P. (Peter), Dunning, A.M. (Alison), Chenevix-Trench, G. (Georgia), Hall, P. (Per), and Easton, D.F. (Douglas)
Abstract: Genome-wide association studies (GWAS) and large-scale replication studies have identified common variants in 79 loci associated with breast cancer, explaining ∼14% of the familial risk of the disease. To identify new susceptibility loci, we performed a meta-analysis of 11 GWAS, comprising 15,748 breast cancer cases and 18,084 controls together with 46,785 cases and 42,892 controls from 41 studies genotyped on a 211,155-marker custom array (iCOGS). Analyses were restricted to women of European ancestry. We generated genotypes for more than 11 million SNPs by imputation using the 1000 Genomes Project reference panel, and we identified 15 new loci associated with breast cancer at P < 5 × 10 â '8. Combining association analysis with ChIP-seq chromatin binding data in mammary cell lines and ChIA-PET chromatin interaction data from ENCODE, we identified likely target genes in two regions: SETBP1 at 18q12.3 and RNF115 and PDZK1 at 1q21.1. One association appears to be driven by an amino acid substitution encoded in EXO1.
Published: 2015
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37. Fine-scale mapping of the 4q24 locus identifies & pr two Independent loci associated with breast cancer risk

Author: Guo, X. (Xingyi), Long, J. (Jirong), Zeng, C. (Chenjie), Michailidou, K. (Kyriaki), Ghoussaini, M. (Maya), Bolla, M.K. (Manjeet), Wang, Q. (Qing), Milne, R.L. (Roger L.), Shu, X.-O. (Xiao-Ou), Cai, Q. (Qiuyin), Beesley, J. (Jonathan), Kar, S. (Siddhartha), Andrulis, I.L. (Irene), Anton-Culver, H. (Hoda), Arndt, V. (Volker), Beckmann, M.W. (Matthias), Beeghly-Fadiel, A. (Alicia), Benítez, J. (Javier), Blot, W.J. (William), Bogdanova, N.V. (Natalia), Bojesen, S.E. (Stig), Brauch, H. (Hiltrud), Brenner, H. (Hermann), Brinton, L.A. (Louise), Broekss, A. (Annegien), Brüning, T. (Thomas), Burwinkel, B. (Barbara), Cai, H. (Hui), Canisius, S. (Sander), Chang-Claude, J. (Jenny), Choi, J.-Y. (J.), Couch, F.J. (Fergus), Cox, A. (Angela), Cross, S.S. (Simon), Czene, K. (Kamila), Darabi, H. (Hatef), Devilee, P. (Peter), Droit, A. (Arnaud), Dörk, T. (Thilo), Fasching, P.A. (Peter), Fletcher, O. (Olivia), Flyger, H. (Henrik), Fostira, F. (Florentia), Gaborieau, V. (Valerie), García-Closas, M. (Montserrat), Giles, G.G. (Graham G.), Grip, M. (Mervi), Guénel, P. (Pascal), Haiman, C.A. (Christopher A.), Hamann, U. (Ute), Hartman, J.M. (Joost), Hollestelle, A. (Antoinette), Hopper, J.L. (John L.), Hsiung, C.-N. (Chia-Ni), Ito, H. (Hidemi), Jakubowska, A. (Anna), Johnson, N. (Nichola), Kabisch, M. (Maria), Kang, D. (Daehee), Khan, S. (Sofia), Knight, J.A. (Julia), Kosma, V-M. (Veli-Matti), Lambrechts, D. (Diether), Le Marchand, L. (Loic), Li, J. (Jingmei), Lindblom, A. (Annika), Lophatananon, A. (Artitaya), Lubinski, J. (Jan), Mannermaa, A. (Arto), Manoukian, S. (Siranoush), Margolin, S. (Sara), Marme, F. (Federick), Matsuo, K. (Keitaro), McLean, C.A. (Catriona Ann), Meindl, A. (Alfons), Muir, K. (Kenneth), Neuhausen, S.L. (Susan), Nevanlinna, H. (Heli), Nord, S. (Silje), Olson, J.E. (Janet), Orr, N. (Nick), Peterlongo, P. (Paolo), Putti, T.C. (Thomas Choudary), Rudolph, A. (Anja), Sangrajrang, S. (Suleeporn), Sawyer, E.J. (Elinor), Schmidt, M.K. (Marjanka), Schmutzler, R.K. (Rita), Shen, C-Y. (Chen-Yang), Shi, J. (Jiajun), Shrubsole, M. (Martha), Southey, M.C. (Melissa), Swerdlow, A.J. (Anthony ), Teo, S.H. (Soo Hwang), Thienpont, B. (Bernard), Toland, A.E. (Amanda), Tollenaar, R.A.E.M. (Rob), Tomlinson, I. (Ian), Truong, T. (Thérèse), Tseng, C.-C. (Chiu-chen), Ouweland, A.M.W. (Ans) van den, Wen, W. (Wanqing), Winqvist, R. (Robert), Wu, A. (Anna), Yip, C.H. (Cheng Har), Zamora, M.P. (Pilar), Zheng, Y. (Ying), Hall, P. (Per), Pharoah, P.D.P. (Paul), Simard, J. (Jacques), Chenevix-Trench, G. (Georgia), Dunning, A.M. (Alison), Easton, D.F. (Douglas F.), Zheng, W. (Wei), Eeles, R. (Rosalind), Al Olama, A.A. (Ali Amin), Kote-Jarai, Z., Benlloch, S. (Sara), Antoniou, A.C. (Antonis), McGuffog, L. (Lesley), Offit, K. (Kenneth), Lee, A. (Andrew), Dicks, E. (Ed), Luccarini, C. (Craig), Tessier, D.C. (Daniel C.), Bacot, F. (Francois), Vincent, D. (Daniel), La Boissière, S. (Sylvie), Robidoux, F. (Frederic), Nielsen, S.F. (Sune), Cunningham, J.M. (Julie), Windebank, S.A. (Sharon A.), Hilker, C.A. (Christopher A.), Meyer, J. (Jeffrey), Angelakos, M. (Maggie), Maskiell, J. (Judi), Rutgers, E.J. (Emiel J.), Verhoef, S., Hogervorst, F.B.L. (Frans), Boonyawongviroj, P. (Prat), Siriwanarungsan, P. (Pornthep), Schrauder, A. (André), Rübner, M. (Matthias), Oeser, S. (Sonja), Landrith, S. (Silke), Williams, E. (Eileen), Ryder-Mills, E. (Elaine), Sargus, K. (Kara), McInerney, N. (Niall), Colleran, G. (Gabrielle), Rowan, A. (Andrew), Jones, A. (Angela), Sohn, C. (Christof), Schneeweiß, A. (Andeas), Bugert, P. (Peter), Álvarez, N. (Nuria), Bernstein, L. (Leslie), Lacey, J. (James), Wang, S. (Sophia), Ma, H. (Huiyan), Lu, Y. (Yani), Clague De Hart, J. (Jessica), Deapen, D. (Dennis), Pinder, R. (Rich), Lee, E. (Eunjung), Schumacher, F.R. (Fredrick), Horn-Ross, P. (Pam), Reynolds, P. (Peggy), Nelson, D. (David), Park, H. (Hannah), Ziegler, H. (Hartwig), Wolf, S. (Sonja), Hermann, V. (Volker), Lo, W.-Y. (Wing-Yee), Justenhoven, C. (Christina), Ko, Y.-D. (Yon-Dschun), Baisch, C. (Christian), Fischer, H.-P. (Hans-Peter), Pesch, B. (Beate), Rabstein, S. (Sylvia), Lotz, A. (Anne), Harth, V. (Volker), Heikkinen, T. (Tuomas), Erkkilä, I. (Irja), Aaltonen, K. (Kirsimari), Smitten, K. (Karl) von, Antonenkova, N.N. (Natalia), Hillemanns, P. (Peter), Christiansen, H. (Hans), Myöhänen, E. (Eija), Kemiläinen, H. (Helena), Thorne, H. (Heather), Niedermayr, E. (Eveline), Bowtell, D., De Fazio, A. (Anna), Gertig, D., Green, A., Webb, P. (Penny), Parsons, P., Hayward, N., Webb, P.M. (P.), Whiteman, D., Fung, A. (Annie), Yashiki, J. (June), Peuteman, G. (Gilian), Smeets, D. (Dominiek), Van Brussel, T. (Thomas), Corthouts, K. (Kathleen), Obi, N. (Nadia), Heinz, J. (Judith), Behrens, T.W. (Timothy), Eilber, U. (Ursula), Celik, M. (Muhabbet), Olchers, T. (Til), Peissel, B. (Bernard), Scuvera, G. (Giulietta), Zaffaroni, D. (Daniela), Bonnani, B. (Bernardo), Feroce, I. (Irene), Maniscalco, A. (Angela), Rossi, A. (Alessandra), Bernard, L. (Loris), Tranchant, M. (Martine), Valois, M.-F. (Marie-France), Turgeon, A. (Annie), Heguy, L. (Lea), Yee, P.S. (Phuah Sze), Kang, P. (Peter), Nee, K.I. (Kang In), Mariapun, S. (Shivaani), Sook-Yee, Y. (Yoon), Lee, D.S.C. (Daphne S.C.), Ching, T.Y. (Teh Yew), Taib, N.A.M. (Nur Aishah Mohd), Otsukka, M. (Meeri), Mononen, K. (Kari), Selander, T. (Teresa), Weerasooriya, N. (Nayana), Krol-Warmerdam, E.M.M. (Elly), Molenaar, J., Blom, J., Szeszenia-Dabrowska, N. (Neonilia), Peplonska, B. (Beata), Zatonski, W. (Witold), Chao, P. (Pei), Stagner, M. (Michael), Bos, P. (Petra), Blom, J. (Jannet), Crepin, E. (Ellen), Nieuwlaat, A. (Anja), Heemskerk, A. (Annette), Higham, S. (Sue), Cramp, H.E. (Helen), Connley, D. (Daniel), Balasubramanian, S. (Sabapathy), Brock, I.W. (Ian), Kerin, M. (Michael), Miller, N. (Nicola), Kerbrat, P. (Pierre), Arveux, P. (Patrick), Le Scodan, R. (Romuald), Raoul, Y. (Yves), Laurent-Puig, P. (Pierre), Mulot, C. (Claire), Stegmaier, C. (Christa), Butterbach, K. (Katja), Karstens, J.H. (Johann), Flesch-Janys, D. (Dieter), Seibold, P. (Petra), Vrieling, A. (Alina), Nickels, S. (Stefan), Radice, P. (Paolo), Pykäs, K. (Katri), Jukkola-Vuorinen, A. (Arja), Kauppila, S. (Saila), Conroy, D. (Don), Baynes, C. (Caroline), Chua, K. (Kimberley), Pilarski, R. (Robert), Guo, X. (Xingyi), Long, J. (Jirong), Zeng, C. (Chenjie), Michailidou, K. (Kyriaki), Ghoussaini, M. (Maya), Bolla, M.K. (Manjeet), Wang, Q. (Qing), Milne, R.L. (Roger L.), Shu, X.-O. (Xiao-Ou), Cai, Q. (Qiuyin), Beesley, J. (Jonathan), Kar, S. (Siddhartha), Andrulis, I.L. (Irene), Anton-Culver, H. (Hoda), Arndt, V. (Volker), Beckmann, M.W. (Matthias), Beeghly-Fadiel, A. (Alicia), Benítez, J. (Javier), Blot, W.J. (William), Bogdanova, N.V. (Natalia), Bojesen, S.E. (Stig), Brauch, H. (Hiltrud), Brenner, H. (Hermann), Brinton, L.A. (Louise), Broekss, A. (Annegien), Brüning, T. (Thomas), Burwinkel, B. (Barbara), Cai, H. (Hui), Canisius, S. (Sander), Chang-Claude, J. (Jenny), Choi, J.-Y. (J.), Couch, F.J. (Fergus), Cox, A. (Angela), Cross, S.S. (Simon), Czene, K. (Kamila), Darabi, H. (Hatef), Devilee, P. (Peter), Droit, A. (Arnaud), Dörk, T. (Thilo), Fasching, P.A. (Peter), Fletcher, O. (Olivia), Flyger, H. (Henrik), Fostira, F. (Florentia), Gaborieau, V. (Valerie), García-Closas, M. (Montserrat), Giles, G.G. (Graham G.), Grip, M. (Mervi), Guénel, P. (Pascal), Haiman, C.A. (Christopher A.), Hamann, U. (Ute), Hartman, J.M. (Joost), Hollestelle, A. (Antoinette), Hopper, J.L. (John L.), Hsiung, C.-N. (Chia-Ni), Ito, H. (Hidemi), Jakubowska, A. (Anna), Johnson, N. (Nichola), Kabisch, M. (Maria), Kang, D. (Daehee), Khan, S. (Sofia), Knight, J.A. (Julia), Kosma, V-M. (Veli-Matti), Lambrechts, D. (Diether), Le Marchand, L. (Loic), Li, J. (Jingmei), Lindblom, A. (Annika), Lophatananon, A. (Artitaya), Lubinski, J. (Jan), Mannermaa, A. (Arto), Manoukian, S. (Siranoush), Margolin, S. (Sara), Marme, F. (Federick), Matsuo, K. (Keitaro), McLean, C.A. (Catriona Ann), Meindl, A. (Alfons), Muir, K. (Kenneth), Neuhausen, S.L. (Susan), Nevanlinna, H. (Heli), Nord, S. (Silje), Olson, J.E. (Janet), Orr, N. (Nick), Peterlongo, P. (Paolo), Putti, T.C. (Thomas Choudary), Rudolph, A. (Anja), Sangrajrang, S. (Suleeporn), Sawyer, E.J. (Elinor), Schmidt, M.K. (Marjanka), Schmutzler, R.K. (Rita), Shen, C-Y. (Chen-Yang), Shi, J. (Jiajun), Shrubsole, M. (Martha), Southey, M.C. (Melissa), Swerdlow, A.J. (Anthony ), Teo, S.H. (Soo Hwang), Thienpont, B. (Bernard), Toland, A.E. (Amanda), Tollenaar, R.A.E.M. (Rob), Tomlinson, I. (Ian), Truong, T. (Thérèse), Tseng, C.-C. (Chiu-chen), Ouweland, A.M.W. (Ans) van den, Wen, W. (Wanqing), Winqvist, R. (Robert), Wu, A. (Anna), Yip, C.H. (Cheng Har), Zamora, M.P. (Pilar), Zheng, Y. (Ying), Hall, P. (Per), Pharoah, P.D.P. (Paul), Simard, J. (Jacques), Chenevix-Trench, G. (Georgia), Dunning, A.M. (Alison), Easton, D.F. (Douglas F.), Zheng, W. (Wei), Eeles, R. (Rosalind), Al Olama, A.A. (Ali Amin), Kote-Jarai, Z., Benlloch, S. (Sara), Antoniou, A.C. (Antonis), McGuffog, L. (Lesley), Offit, K. (Kenneth), Lee, A. (Andrew), Dicks, E. (Ed), Luccarini, C. (Craig), Tessier, D.C. (Daniel C.), Bacot, F. (Francois), Vincent, D. (Daniel), La Boissière, S. (Sylvie), Robidoux, F. (Frederic), Nielsen, S.F. (Sune), Cunningham, J.M. (Julie), Windebank, S.A. (Sharon A.), Hilker, C.A. (Christopher A.), Meyer, J. (Jeffrey), Angelakos, M. (Maggie), Maskiell, J. (Judi), Rutgers, E.J. (Emiel J.), Verhoef, S., Hogervorst, F.B.L. (Frans), Boonyawongviroj, P. (Prat), Siriwanarungsan, P. (Pornthep), Schrauder, A. (André), Rübner, M. (Matthias), Oeser, S. (Sonja), Landrith, S. (Silke), Williams, E. (Eileen), Ryder-Mills, E. (Elaine), Sargus, K. (Kara), McInerney, N. (Niall), Colleran, G. (Gabrielle), Rowan, A. (Andrew), Jones, A. (Angela), Sohn, C. (Christof), Schneeweiß, A. (Andeas), Bugert, P. (Peter), Álvarez, N. (Nuria), Bernstein, L. (Leslie), Lacey, J. (James), Wang, S. (Sophia), Ma, H. (Huiyan), Lu, Y. (Yani), Clague De Hart, J. (Jessica), Deapen, D. (Dennis), Pinder, R. (Rich), Lee, E. (Eunjung), Schumacher, F.R. (Fredrick), Horn-Ross, P. (Pam), Reynolds, P. (Peggy), Nelson, D. (David), Park, H. (Hannah), Ziegler, H. (Hartwig), Wolf, S. (Sonja), Hermann, V. (Volker), Lo, W.-Y. (Wing-Yee), Justenhoven, C. (Christina), Ko, Y.-D. (Yon-Dschun), Baisch, C. (Christian), Fischer, H.-P. (Hans-Peter), Pesch, B. (Beate), Rabstein, S. (Sylvia), Lotz, A. (Anne), Harth, V. (Volker), Heikkinen, T. (Tuomas), Erkkilä, I. (Irja), Aaltonen, K. (Kirsimari), Smitten, K. (Karl) von, Antonenkova, N.N. (Natalia), Hillemanns, P. (Peter), Christiansen, H. (Hans), Myöhänen, E. (Eija), Kemiläinen, H. (Helena), Thorne, H. (Heather), Niedermayr, E. (Eveline), Bowtell, D., De Fazio, A. (Anna), Gertig, D., Green, A., Webb, P. (Penny), Parsons, P., Hayward, N., Webb, P.M. (P.), Whiteman, D., Fung, A. (Annie), Yashiki, J. (June), Peuteman, G. (Gilian), Smeets, D. (Dominiek), Van Brussel, T. (Thomas), Corthouts, K. (Kathleen), Obi, N. (Nadia), Heinz, J. (Judith), Behrens, T.W. (Timothy), Eilber, U. (Ursula), Celik, M. (Muhabbet), Olchers, T. (Til), Peissel, B. (Bernard), Scuvera, G. (Giulietta), Zaffaroni, D. (Daniela), Bonnani, B. (Bernardo), Feroce, I. (Irene), Maniscalco, A. (Angela), Rossi, A. (Alessandra), Bernard, L. (Loris), Tranchant, M. (Martine), Valois, M.-F. (Marie-France), Turgeon, A. (Annie), Heguy, L. (Lea), Yee, P.S. (Phuah Sze), Kang, P. (Peter), Nee, K.I. (Kang In), Mariapun, S. (Shivaani), Sook-Yee, Y. (Yoon), Lee, D.S.C. (Daphne S.C.), Ching, T.Y. (Teh Yew), Taib, N.A.M. (Nur Aishah Mohd), Otsukka, M. (Meeri), Mononen, K. (Kari), Selander, T. (Teresa), Weerasooriya, N. (Nayana), Krol-Warmerdam, E.M.M. (Elly), Molenaar, J., Blom, J., Szeszenia-Dabrowska, N. (Neonilia), Peplonska, B. (Beata), Zatonski, W. (Witold), Chao, P. (Pei), Stagner, M. (Michael), Bos, P. (Petra), Blom, J. (Jannet), Crepin, E. (Ellen), Nieuwlaat, A. (Anja), Heemskerk, A. (Annette), Higham, S. (Sue), Cramp, H.E. (Helen), Connley, D. (Daniel), Balasubramanian, S. (Sabapathy), Brock, I.W. (Ian), Kerin, M. (Michael), Miller, N. (Nicola), Kerbrat, P. (Pierre), Arveux, P. (Patrick), Le Scodan, R. (Romuald), Raoul, Y. (Yves), Laurent-Puig, P. (Pierre), Mulot, C. (Claire), Stegmaier, C. (Christa), Butterbach, K. (Katja), Karstens, J.H. (Johann), Flesch-Janys, D. (Dieter), Seibold, P. (Petra), Vrieling, A. (Alina), Nickels, S. (Stefan), Radice, P. (Paolo), Pykäs, K. (Katri), Jukkola-Vuorinen, A. (Arja), Kauppila, S. (Saila), Conroy, D. (Don), Baynes, C. (Caroline), Chua, K. (Kimberley), and Pilarski, R. (Robert)
Abstract: Background: A recent association study identified a common variant (rs9790517) at 4q24 to be associated with breast cancer risk. Independent association signals and potential functional variants in this locus have not been explored. Methods: We conducted a fine-mapping analysis in 55,540 breast cancer cases and 51,168 controls from the Breast Cancer Association Consortium. Results: Conditional analyses identified two independent association signals among women of European ancestry, represented by rs9790517 [conditional P=2.51 × 10-4; OR, 1.04; 95% confidence interval (CI), 1.02-1.07] and rs77928427 (P=1.86 × 10-4; OR, 1.04; 95% CI, 1.02-1.07). Functional annotation using data from the Encyclopedia of DNA Elements (ENCODE) project revealed two putative functional variants, rs62331150 and rs73838678 in linkage disequilibrium (LD) with rs9790517 (r2≥ 0.90) residing in the active promoter or enhancer, respectively, of the nearest gene, TET2. Both variants are located in DNase I hypersensitivity and transcription factor-binding sites. Using data from both The Cancer Genome Atlas (TCGA) and Molecular Taxonomy of Breast Cancer International Consortium (METABRIC), we showed that rs62331150 was associated with level of expression of TET2 in breast normal and tumor tissue. Conclusion: Our study identified two independent association signals at 4q24 in relation to breast cancer risk and suggested that observed association in this locus may be mediated through the regulation of TET2. Impact: Fine-mapping study with large sample size warranted for identification of independent loci for breast cancer risk.
Published: 2015
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38. Genome-wide association analysis of more than 120,000 individuals identifies 15 new susceptibility loci for breast cancer

Author: Michailidou, K, Beesley, J, Lindstrom, S, Canisius, S, Dennis, J, Lush, MJ, Maranian, MJ, Bolla, MK, Wang, Q, Shah, M, Perkins, BJ, Czene, K, Eriksson, M, Darabi, H, Brand, JS, Bojesen, SE, Nordestgaard, BG, Flyger, H, Nielsen, SF, Rahman, N, Turnbull, C, Fletcher, O, Peto, J, Gibson, L, dos-Santos-Silva, I, Chang-Claude, J, Flesch-Janys, D, Rudolph, A, Eilber, U, Behrens, S, Nevanlinna, H, Muranen, TA, Aittomaki, K, Blomqvist, C, Khan, S, Aaltonen, K, Ahsan, H, Kibriya, MG, Whittemore, AS, John, EM, Malone, KE, Gammon, MD, Santella, RM, Ursin, G, Makalic, E, Schmidt, DF, Casey, G, Hunter, DJ, Gapstur, SM, Gaudet, MM, Diver, WR, Haiman, CA, Schumacher, F, Henderson, BE, Le Marchand, L, Berg, CD, Chanock, SJ, Figueroa, J, Hoover, RN, Lambrechts, D, Neven, P, Wildiers, H, van Limbergen, E, Schmidt, MK, Broeks, A, Verhoef, S, Cornelissen, S, Couch, FJ, Olson, JE, Hallberg, E, Vachon, C, Waisfisz, Q, Meijers-Heijboer, H, Adank, MA, van der Luijt, RB, Li, J, Liu, J, Humphreys, K, Kang, D, Choi, J-Y, Park, SK, Yoo, K-Y, Matsuo, K, Ito, H, Iwata, H, Tajima, K, Guenel, P, Truong, T, Mulot, C, Sanchez, M, Burwinkel, B, Marme, F, Surowy, H, Sohn, C, Wu, AH, Tseng, C-C, Van den Berg, D, Stram, DO, Gonzalez-Neira, A, Benitez, J, Zamora, MP, Arias Perez, JI, Shu, X-O, Lu, W, Gao, Y-T, Cai, H, Cox, A, Cross, SS, Reed, MWR, Andrulis, IL, Knight, JA, Glendon, G, Mulligan, AM, Sawyer, EJ, Tomlinson, I, Kerin, MJ, Miller, N, Lindblom, A, Margolin, S, Teo, SH, Yip, CH, Taib, NAM, Tan, G-H, Hooning, MJ, Hollestelle, A, Martens, JWM, Collee, JM, Blot, W, Signorello, LB, Cai, Q, Hopper, JL, Southey, MC, Tsimiklis, H, Apicella, C, Shen, C-Y, Hsiung, C-N, Wu, P-E, Hou, M-F, Kristensen, VN, Nord, S, Alnaes, GIG, Giles, GG, Milne, RL, McLean, C, Canzian, F, Trichopoulos, D, Peeters, P, Lund, E, Sund, M, Khaw, K-T, Gunter, MJ, Palli, D, Mortensen, LM, Dossus, L, Huerta, J-M, Meindl, A, Schmutzler, RK, Sutter, C, Yang, R, Muir, K, Lophatananon, A, Stewart-Brown, S, Siriwanarangsan, P, Hartman, M, Miao, H, Chia, KS, Chan, CW, Fasching, PA, Hein, A, Beckmann, MW, Haeberle, L, Brenner, H, Dieffenbach, AK, Arndt, V, Stegmaier, C, Ashworth, A, Orr, N, Schoemaker, MJ, Swerdlow, AJ, Brinton, L, Garcia-Closas, M, Zheng, W, Halverson, SL, Shrubsole, M, Long, J, Goldberg, MS, Labreche, F, Dumont, M, Winqvist, R, Pylkas, K, Jukkola-Vuorinen, A, Grip, M, Brauch, H, Hamann, U, Bruening, T, Radice, P, Peterlongo, P, Manoukian, S, Bernard, L, Bogdanova, NV, Doerk, T, Mannermaa, A, Kataja, V, Kosma, V-M, Hartikainen, JM, Devilee, P, Tollenaar, RAEM, Seynaeve, C, Van Asperen, CJ, Jakubowska, A, Lubinski, J, Jaworska, K, Huzarski, T, Sangrajrang, S, Gaborieau, V, Brennan, P, Mckay, J, Slager, S, Toland, AE, Ambrosone, CB, Yannoukakos, D, Kabisch, M, Torres, D, Neuhausen, SL, Anton-Culver, H, Luccarini, C, Baynes, C, Ahmed, S, Healey, CS, Tessier, DC, Vincent, D, Bacot, F, Pita, G, Rosario Alonso, M, Alvarez, N, Herrero, D, Simard, J, Pharoah, PPDP, Kraft, P, Dunning, AM, Chenevix-Trench, G, Hall, P, Easton, DF, Michailidou, K, Beesley, J, Lindstrom, S, Canisius, S, Dennis, J, Lush, MJ, Maranian, MJ, Bolla, MK, Wang, Q, Shah, M, Perkins, BJ, Czene, K, Eriksson, M, Darabi, H, Brand, JS, Bojesen, SE, Nordestgaard, BG, Flyger, H, Nielsen, SF, Rahman, N, Turnbull, C, Fletcher, O, Peto, J, Gibson, L, dos-Santos-Silva, I, Chang-Claude, J, Flesch-Janys, D, Rudolph, A, Eilber, U, Behrens, S, Nevanlinna, H, Muranen, TA, Aittomaki, K, Blomqvist, C, Khan, S, Aaltonen, K, Ahsan, H, Kibriya, MG, Whittemore, AS, John, EM, Malone, KE, Gammon, MD, Santella, RM, Ursin, G, Makalic, E, Schmidt, DF, Casey, G, Hunter, DJ, Gapstur, SM, Gaudet, MM, Diver, WR, Haiman, CA, Schumacher, F, Henderson, BE, Le Marchand, L, Berg, CD, Chanock, SJ, Figueroa, J, Hoover, RN, Lambrechts, D, Neven, P, Wildiers, H, van Limbergen, E, Schmidt, MK, Broeks, A, Verhoef, S, Cornelissen, S, Couch, FJ, Olson, JE, Hallberg, E, Vachon, C, Waisfisz, Q, Meijers-Heijboer, H, Adank, MA, van der Luijt, RB, Li, J, Liu, J, Humphreys, K, Kang, D, Choi, J-Y, Park, SK, Yoo, K-Y, Matsuo, K, Ito, H, Iwata, H, Tajima, K, Guenel, P, Truong, T, Mulot, C, Sanchez, M, Burwinkel, B, Marme, F, Surowy, H, Sohn, C, Wu, AH, Tseng, C-C, Van den Berg, D, Stram, DO, Gonzalez-Neira, A, Benitez, J, Zamora, MP, Arias Perez, JI, Shu, X-O, Lu, W, Gao, Y-T, Cai, H, Cox, A, Cross, SS, Reed, MWR, Andrulis, IL, Knight, JA, Glendon, G, Mulligan, AM, Sawyer, EJ, Tomlinson, I, Kerin, MJ, Miller, N, Lindblom, A, Margolin, S, Teo, SH, Yip, CH, Taib, NAM, Tan, G-H, Hooning, MJ, Hollestelle, A, Martens, JWM, Collee, JM, Blot, W, Signorello, LB, Cai, Q, Hopper, JL, Southey, MC, Tsimiklis, H, Apicella, C, Shen, C-Y, Hsiung, C-N, Wu, P-E, Hou, M-F, Kristensen, VN, Nord, S, Alnaes, GIG, Giles, GG, Milne, RL, McLean, C, Canzian, F, Trichopoulos, D, Peeters, P, Lund, E, Sund, M, Khaw, K-T, Gunter, MJ, Palli, D, Mortensen, LM, Dossus, L, Huerta, J-M, Meindl, A, Schmutzler, RK, Sutter, C, Yang, R, Muir, K, Lophatananon, A, Stewart-Brown, S, Siriwanarangsan, P, Hartman, M, Miao, H, Chia, KS, Chan, CW, Fasching, PA, Hein, A, Beckmann, MW, Haeberle, L, Brenner, H, Dieffenbach, AK, Arndt, V, Stegmaier, C, Ashworth, A, Orr, N, Schoemaker, MJ, Swerdlow, AJ, Brinton, L, Garcia-Closas, M, Zheng, W, Halverson, SL, Shrubsole, M, Long, J, Goldberg, MS, Labreche, F, Dumont, M, Winqvist, R, Pylkas, K, Jukkola-Vuorinen, A, Grip, M, Brauch, H, Hamann, U, Bruening, T, Radice, P, Peterlongo, P, Manoukian, S, Bernard, L, Bogdanova, NV, Doerk, T, Mannermaa, A, Kataja, V, Kosma, V-M, Hartikainen, JM, Devilee, P, Tollenaar, RAEM, Seynaeve, C, Van Asperen, CJ, Jakubowska, A, Lubinski, J, Jaworska, K, Huzarski, T, Sangrajrang, S, Gaborieau, V, Brennan, P, Mckay, J, Slager, S, Toland, AE, Ambrosone, CB, Yannoukakos, D, Kabisch, M, Torres, D, Neuhausen, SL, Anton-Culver, H, Luccarini, C, Baynes, C, Ahmed, S, Healey, CS, Tessier, DC, Vincent, D, Bacot, F, Pita, G, Rosario Alonso, M, Alvarez, N, Herrero, D, Simard, J, Pharoah, PPDP, Kraft, P, Dunning, AM, Chenevix-Trench, G, Hall, P, and Easton, DF
Abstract: Genome-wide association studies (GWAS) and large-scale replication studies have identified common variants in 79 loci associated with breast cancer, explaining ∼14% of the familial risk of the disease. To identify new susceptibility loci, we performed a meta-analysis of 11 GWAS, comprising 15,748 breast cancer cases and 18,084 controls together with 46,785 cases and 42,892 controls from 41 studies genotyped on a 211,155-marker custom array (iCOGS). Analyses were restricted to women of European ancestry. We generated genotypes for more than 11 million SNPs by imputation using the 1000 Genomes Project reference panel, and we identified 15 new loci associated with breast cancer at P < 5 × 10(-8). Combining association analysis with ChIP-seq chromatin binding data in mammary cell lines and ChIA-PET chromatin interaction data from ENCODE, we identified likely target genes in two regions: SETBP1 at 18q12.3 and RNF115 and PDZK1 at 1q21.1. One association appears to be driven by an amino acid substitution encoded in EXO1.
Published: 2015

39. 521P - miR-31 as a prognostic and predictive marker of disease-free survival (DFS) in resected stage III colon cancer: A retrospective analysis of the PETACC-8 trial

Author: Gaston Mathe, Y., Martin-Lannerée, S., Vazart, C., Fontaine, K., Mulot, C., Caumont, A., Montestruc, F., Le Malicot, K., Lepage, C., Taieb, J., and Laurent-Puig, P.
Published: 2018
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40. MicroRNA related polymorphisms and breast cancer risk

Author: Khan, S. (Sofia), Greco, D. (Dario), Michailidou, K. (Kyriaki), Milne, R.L. (Roger), Muranen, T.A. (Taru), Heikkinen, T. (Tuomas), Aaltonen, K. (Kirsimari), Dennis, J. (Joe), Bolla, M.K. (Manjeet), Liu, J. (Jianjun), Hall, P. (Per), Irwanto, A. (Astrid), Humphreys, M.K. (Manjeet), Li, J. (Jingmei), Czene, K. (Kamila), Chang-Claude, J. (Jenny), Hein, R. (Rebecca), Rudolph, A. (Anja), Seibold, P. (Petra), Flesch-Janys, D. (Dieter), Fletcher, O. (Olivia), Peto, J. (Julian), Santos Silva, I. (Isabel) dos, Johnson, N. (Nichola), Gibson, L.J. (Lorna), Aitken, Z. (Zoe), Hopper, J.L. (John), Tsimiklis, H. (Helen), Bui, M. (Minh), Makalic, E. (Enes), Schmidt, D.F. (Daniel), Southey, M.C. (Melissa), Apicella, C. (Carmel), Stone, J. (Jennifer), Waisfisz, Q. (Quinten), Meijers-Heijboer, E.J. (Hanne), Adank, M.A. (Muriel), Luijt, R.B. (Rob) van der, Meindl, A. (Alfons), Schmutzler, R.K. (Rita), Müller-Myhsok, B. (B.), Lichtner, P. (Peter), Turnbull, C. (Clare), Rahman, N. (Nazneen), Chanock, S.J. (Stephen), Hunter, D. (David), Cox, A. (Angela), Cross, S.S. (Simon), Reed, M.W.R. (Malcolm), Schmidt, M.K. (Marjanka), Broeks, A. (Annegien), Veer, L.J. (Laura) van 't, Hogervorst, F.B.L. (Frans), Fasching, P.A. (Peter), Schrauder, A. (André), Ekici, A.B. (Arif), Beckmann, M.W. (Matthias), Bojesen, S.E. (Stig), Nordestgaard, B.G. (Børge), Nielsen, S.F. (Sune), Flyger, H. (Henrik), Benítez, J. (Javier), Zamora, P.M. (Pilar M.), Perez, J.I.A. (Jose Ignacio Arias), Haiman, C.A. (Christopher), Henderson, B.E. (Brian), Schumacher, F.R. (Fredrick), March, L.L. (Loic Le), Pharoah, P.D.P. (Paul), Dunning, A.M. (Alison), Shah, M. (Mitul), Luben, R.N. (Robert), Brown, J. (Judith), Couch, F.J. (Fergus), Wang, X. (X.), Vachon, C. (Celine), Olson, J.E. (Janet), Lambrechts, D. (Diether), Moisse, M. (Matthieu), Paridaens, R. (Robert), Christiaens, M.R. (Marie Rose), Guénel, P. (Pascal), Truong, T. (Thérèse), Laurent-Puig, P. (Pierre), Mulot, C. (Claire), Marme, F. (Frederick), Burwinkel, B. (Barbara), Schneeweiss, A. (Andreas), Sohn, C. (Christof), Sawyer, E.J. (Elinor), Tomlinson, I.P. (Ian), Kerin, M. (Michael), Miller, N. (Nicola), Andrulis, I.L. (Irene), Knight, J.A. (Julia), Tchatchou, S. (Srine), Mulligan, A.-M. (Anna-Marie), Dörk, T. (Thilo), Bogdanova, N.V. (Natalia), Antonenkova, N.N. (Natalia), Anton-Culver, H. (Hoda), Darabi, H. (Hatef), Eriksson, M. (Mats), García-Closas, M. (Montserrat), Figueroa, J.D. (Jonine), Lissowska, J. (Jolanta), Brinton, L.A. (Louise), Devilee, P. (Peter), Tollenaar, R.A.E.M. (Rob), Seynaeve, C.M. (Caroline), Asperen, C.J. (Christi) van, Kristensen, V. (Vessela), Slager, S. (Susan), Tol, A.E. (Ama E.), Ambrosone, C.B. (Christine), Yannoukakos, D. (Drakoulis), Lindblom, A. (Annika), Margolin, S. (Sara), Radice, P. (Paolo), Peterlongo, P. (Paolo), Barile, M. (Monica), Mariani, P. (Paolo), Hooning, M.J. (Maartje), Martens, J.W.M. (John), Collée, J.M. (Margriet), Jager, A. (Agnes), Jakubowska, A. (Anna), Lubinski, J. (Jan), Jaworska-Bieniek, K. (Katarzyna), Durda, K. (Katarzyna), Giles, G.G. (Graham), McLean, C.A. (Catriona Ann), Brauch, H. (Hiltrud), Brüning, T. (Thomas), Ko, Y.-D. (Yon-Dschun), Brenner, H. (Hermann), Dieffenbach, A.K. (Aida Karina), Arndt, V. (Volker), Stegmaier, C. (Christa), Swerdlow, A.J. (Anthony ), Ashworth, A. (Alan), Orr, N. (Nick), Jones, M. (Michael), Simard, J. (Jacques), Goldberg, M.S. (Mark), Labrèche, F. (France), Dumont, M. (Martine), Winqvist, R. (Robert), Pykäs, K. (Katri), Jukkola-Vuorinen, A. (Arja), Grip, M. (Mervi), Kataja, V. (Vesa), Kosma, V-M. (Veli-Matti), Hartikainen, J.M. (J.), Mannermaa, A. (Arto), Hamann, U. (Ute), Chenevix-Trench, G. (Georgia), Blomqvist, C. (Carl), Aittomäki, K. (Kristiina), Easton, D.F. (Douglas), Nevanlinna, H. (Heli), Khan, S. (Sofia), Greco, D. (Dario), Michailidou, K. (Kyriaki), Milne, R.L. (Roger), Muranen, T.A. (Taru), Heikkinen, T. (Tuomas), Aaltonen, K. (Kirsimari), Dennis, J. (Joe), Bolla, M.K. (Manjeet), Liu, J. (Jianjun), Hall, P. (Per), Irwanto, A. (Astrid), Humphreys, M.K. (Manjeet), Li, J. (Jingmei), Czene, K. (Kamila), Chang-Claude, J. (Jenny), Hein, R. (Rebecca), Rudolph, A. (Anja), Seibold, P. (Petra), Flesch-Janys, D. (Dieter), Fletcher, O. (Olivia), Peto, J. (Julian), Santos Silva, I. (Isabel) dos, Johnson, N. (Nichola), Gibson, L.J. (Lorna), Aitken, Z. (Zoe), Hopper, J.L. (John), Tsimiklis, H. (Helen), Bui, M. (Minh), Makalic, E. (Enes), Schmidt, D.F. (Daniel), Southey, M.C. (Melissa), Apicella, C. (Carmel), Stone, J. (Jennifer), Waisfisz, Q. (Quinten), Meijers-Heijboer, E.J. (Hanne), Adank, M.A. (Muriel), Luijt, R.B. (Rob) van der, Meindl, A. (Alfons), Schmutzler, R.K. (Rita), Müller-Myhsok, B. (B.), Lichtner, P. (Peter), Turnbull, C. (Clare), Rahman, N. (Nazneen), Chanock, S.J. (Stephen), Hunter, D. (David), Cox, A. (Angela), Cross, S.S. (Simon), Reed, M.W.R. (Malcolm), Schmidt, M.K. (Marjanka), Broeks, A. (Annegien), Veer, L.J. (Laura) van 't, Hogervorst, F.B.L. (Frans), Fasching, P.A. (Peter), Schrauder, A. (André), Ekici, A.B. (Arif), Beckmann, M.W. (Matthias), Bojesen, S.E. (Stig), Nordestgaard, B.G. (Børge), Nielsen, S.F. (Sune), Flyger, H. (Henrik), Benítez, J. (Javier), Zamora, P.M. (Pilar M.), Perez, J.I.A. (Jose Ignacio Arias), Haiman, C.A. (Christopher), Henderson, B.E. (Brian), Schumacher, F.R. (Fredrick), March, L.L. (Loic Le), Pharoah, P.D.P. (Paul), Dunning, A.M. (Alison), Shah, M. (Mitul), Luben, R.N. (Robert), Brown, J. (Judith), Couch, F.J. (Fergus), Wang, X. (X.), Vachon, C. (Celine), Olson, J.E. (Janet), Lambrechts, D. (Diether), Moisse, M. (Matthieu), Paridaens, R. (Robert), Christiaens, M.R. (Marie Rose), Guénel, P. (Pascal), Truong, T. (Thérèse), Laurent-Puig, P. (Pierre), Mulot, C. (Claire), Marme, F. (Frederick), Burwinkel, B. (Barbara), Schneeweiss, A. (Andreas), Sohn, C. (Christof), Sawyer, E.J. (Elinor), Tomlinson, I.P. (Ian), Kerin, M. (Michael), Miller, N. (Nicola), Andrulis, I.L. (Irene), Knight, J.A. (Julia), Tchatchou, S. (Srine), Mulligan, A.-M. (Anna-Marie), Dörk, T. (Thilo), Bogdanova, N.V. (Natalia), Antonenkova, N.N. (Natalia), Anton-Culver, H. (Hoda), Darabi, H. (Hatef), Eriksson, M. (Mats), García-Closas, M. (Montserrat), Figueroa, J.D. (Jonine), Lissowska, J. (Jolanta), Brinton, L.A. (Louise), Devilee, P. (Peter), Tollenaar, R.A.E.M. (Rob), Seynaeve, C.M. (Caroline), Asperen, C.J. (Christi) van, Kristensen, V. (Vessela), Slager, S. (Susan), Tol, A.E. (Ama E.), Ambrosone, C.B. (Christine), Yannoukakos, D. (Drakoulis), Lindblom, A. (Annika), Margolin, S. (Sara), Radice, P. (Paolo), Peterlongo, P. (Paolo), Barile, M. (Monica), Mariani, P. (Paolo), Hooning, M.J. (Maartje), Martens, J.W.M. (John), Collée, J.M. (Margriet), Jager, A. (Agnes), Jakubowska, A. (Anna), Lubinski, J. (Jan), Jaworska-Bieniek, K. (Katarzyna), Durda, K. (Katarzyna), Giles, G.G. (Graham), McLean, C.A. (Catriona Ann), Brauch, H. (Hiltrud), Brüning, T. (Thomas), Ko, Y.-D. (Yon-Dschun), Brenner, H. (Hermann), Dieffenbach, A.K. (Aida Karina), Arndt, V. (Volker), Stegmaier, C. (Christa), Swerdlow, A.J. (Anthony ), Ashworth, A. (Alan), Orr, N. (Nick), Jones, M. (Michael), Simard, J. (Jacques), Goldberg, M.S. (Mark), Labrèche, F. (France), Dumont, M. (Martine), Winqvist, R. (Robert), Pykäs, K. (Katri), Jukkola-Vuorinen, A. (Arja), Grip, M. (Mervi), Kataja, V. (Vesa), Kosma, V-M. (Veli-Matti), Hartikainen, J.M. (J.), Mannermaa, A. (Arto), Hamann, U. (Ute), Chenevix-Trench, G. (Georgia), Blomqvist, C. (Carl), Aittomäki, K. (Kristiina), Easton, D.F. (Douglas), and Nevanlinna, H. (Heli)
Abstract: Genetic variations, such as single nucleotide polymorphisms (SNPs) in microRNAs (miRNA) or in the miRNA binding sites may affect the miRNA dependent gene expression regulation, which has been implicated in various cancers, including breast cancer, and may alter individual susceptibility to cancer. We investigated associations between miRNA related SNPs and breast cancer risk. First we evaluated 2,196 SNPs in a case-control study combining n
Published: 2014
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41. Identification and characterization of novel associations in the CASP8/ALS2CR12 region on chromosome 2 with breast cancer risk

Author: Lin, W.-Y. (Wei-Yu), Camp, N.J. (Nicola), Ghoussaini, M. (Maya), Beesley, J. (Jonathan), Michailidou, K. (Kyriaki), Hopper, J. (John), Apicella, C. (Carmel), Southey, M.C. (Melissa), Stone, J. (Jennifer), Schmidt, M.K. (Marjanka), Broeks, A. (Annegien), Veer, L.J. (Laura) van 't, Rutgers, E.J.T. (Emiel), Muir, K.R. (K.), Lophatananon, A. (Artitaya), Stewart-Brown, S. (Sarah), Siriwanarangsan, P. (Pornthep), Fasching, P.A. (Peter), Haeberle, L. (Lothar), Ekici, A.B. (Arif), Beckmann, M.W. (Matthias), Peto, J. (Julian), Santos Silva, I. (Isabel) dos, Fletcher, O. (Olivia), Johnson, N. (Nichola), Bolla, M.K. (Manjeet), Wang, Q. (Qing), Dennis, J. (Joe), Sawyer, E.J. (Elinor), Cheng, T. (Timothy), Tomlinson, I.P. (Ian), Kerin, M. (Michael), Miller, N. (Nicola), Marmé, F. (Frederik), Surowy, H. (Harald), Burwinkel, B. (Barbara), Guénel, P. (Pascal), Truong, T. (Thérèse), Menegaux, F. (Florence), Mulot, C. (Claire), Bojesen, S.E. (Stig), Nordestgaard, B.G. (Børge), Nielsen, S.F. (Sune), Flyger, H. (Henrik), Benítez, J. (Javier), Zamora, M.P. (Pilar), Perez, J.I.A. (Jose Ignacio Arias), Menéndez, P. (Primitiva), González-Neira, A. (Anna), Pita, G. (Guillermo), Rosario Alonso, M., Álvarez, N. (Nuria), Herrero, D. (Daniel), Anton-Culver, H. (Hoda), Brenner, H. (Hermann), Dieffenbach, A.K. (Aida Karina), Arndt, V. (Volker), Stegmaier, C. (Christa), Meindl, A. (Alfons), Lichtner, P. (Peter), Schmutzler, R.K. (Rita), Müller-Myhsok, B. (B.), Brauch, H. (Hiltrud), Brüning, T. (Thomas), Ko, Y.-D. (Yon-Dschun), Lin, W.-Y. (Wei-Yu), Camp, N.J. (Nicola), Ghoussaini, M. (Maya), Beesley, J. (Jonathan), Michailidou, K. (Kyriaki), Hopper, J. (John), Apicella, C. (Carmel), Southey, M.C. (Melissa), Stone, J. (Jennifer), Schmidt, M.K. (Marjanka), Broeks, A. (Annegien), Veer, L.J. (Laura) van 't, Rutgers, E.J.T. (Emiel), Muir, K.R. (K.), Lophatananon, A. (Artitaya), Stewart-Brown, S. (Sarah), Siriwanarangsan, P. (Pornthep), Fasching, P.A. (Peter), Haeberle, L. (Lothar), Ekici, A.B. (Arif), Beckmann, M.W. (Matthias), Peto, J. (Julian), Santos Silva, I. (Isabel) dos, Fletcher, O. (Olivia), Johnson, N. (Nichola), Bolla, M.K. (Manjeet), Wang, Q. (Qing), Dennis, J. (Joe), Sawyer, E.J. (Elinor), Cheng, T. (Timothy), Tomlinson, I.P. (Ian), Kerin, M. (Michael), Miller, N. (Nicola), Marmé, F. (Frederik), Surowy, H. (Harald), Burwinkel, B. (Barbara), Guénel, P. (Pascal), Truong, T. (Thérèse), Menegaux, F. (Florence), Mulot, C. (Claire), Bojesen, S.E. (Stig), Nordestgaard, B.G. (Børge), Nielsen, S.F. (Sune), Flyger, H. (Henrik), Benítez, J. (Javier), Zamora, M.P. (Pilar), Perez, J.I.A. (Jose Ignacio Arias), Menéndez, P. (Primitiva), González-Neira, A. (Anna), Pita, G. (Guillermo), Rosario Alonso, M., Álvarez, N. (Nuria), Herrero, D. (Daniel), Anton-Culver, H. (Hoda), Brenner, H. (Hermann), Dieffenbach, A.K. (Aida Karina), Arndt, V. (Volker), Stegmaier, C. (Christa), Meindl, A. (Alfons), Lichtner, P. (Peter), Schmutzler, R.K. (Rita), Müller-Myhsok, B. (B.), Brauch, H. (Hiltrud), Brüning, T. (Thomas), and Ko, Y.-D. (Yon-Dschun)
Abstract: Previous studies have suggested that polymorphisms in CASP8 on chromosome 2 are associated with breast cancer risk. To clarify the role of CASP8 in breast cancer susceptibility, we carried out dense genotyping of this region in the Breast Cancer Association Consortium (BCAC). Single-nucleotide polymorphisms (SNPs) spanning a 1 Mb region around CASP8 were genotyped in 46 450 breast cancer cases and 42 600 controls of European origin from 41 studies participating in the BCAC as part of a custom genotyping array experiment (iCOGS). Missing genotypes and SNPs were imputed and, after quality exclusions, 501 typed and 1232 imputed SNPs were included in logistic regressionmodels adjusting for study and ancestry principal components. The SNPs retained in the final model were investigated further in data from nine genome-wide association studies (GWAS) comprising in total 10 052 case and 12 575 control subjects. The most significant association signal observed in European subjects was for the imputed intronic SNP rs1830298 in ALS2CR12 (telomeric to CASP8), with per allele odds ratio and 95% confidence interval [OR (95% confidence interval, CI)] for the minor allele of 1.05 (1.03-1.07), P = 1 × 10-5. Three additional independent signals from intronic SNPs were identified, in CASP8 (rs36043647), ALS2CR11 (rs59278883) and CFLAR (rs7558475). The association with rs1830298 was replicated in the imputed results from the combined GWAS (P=3 × 10-6), yielding a combined OR (95% CI) of 1.06 (1.04-1.08), P = 1 × 10-9. Analyses of gene expression associations in peripheral blood and normal breast tissue indicate that CASP8might be the target gene, suggesting amechanism involving apoptosis.
Published: 2014
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42. Common non-synonymous SNPs associated with breast cancer susceptibility: findings from the Breast Cancer Association Consortium

Author: Milne, RL, Burwinkel, B, Michailidou, K, Arias-Perez, J-I, Pilar Zamora, M, Menendez-Rodriguez, P, Hardisson, D, Mendiola, M, Gonzalez-Neira, A, Pita, G, Rosario Alonso, M, Dennis, J, Wang, Q, Bolla, MK, Swerdlow, A, Ashworth, A, Orr, N, Schoemaker, M, Ko, Y-D, Brauch, H, Hamann, U, Andrulis, IL, Knight, JA, Glendon, G, Tchatchou, S, Matsuo, K, Ito, H, Iwata, H, Tajima, K, Li, J, Brand, JS, Brenner, H, Dieffenbach, AK, Arndt, V, Stegmaier, C, Lambrechts, D, Peuteman, G, Christiaens, M-R, Smeets, A, Jakubowska, A, Lubinski, J, Jaworska-Bieniek, K, Durda, K, Hartman, M, Hui, M, Lim, WY, Chan, CW, Marme, F, Yang, R, Bugert, P, Lindblom, A, Margolin, S, Garcia-Closas, M, Chanock, SJ, Lissowska, J, Figueroa, JD, Bojesen, SE, Nordestgaard, BG, Flyger, H, Hooning, MJ, Kriege, M, van den Ouweland, AMW, Koppert, LB, Fletcher, O, Johnson, N, dos-Santos-Silva, I, Peto, J, Zheng, W, Deming-Halverson, S, Shrubsole, MJ, Long, J, Chang-Claude, J, Rudolph, A, Seibold, P, Flesch-Janys, D, Winqvist, R, Pylkas, K, Jukkola-Vuorinen, A, Grip, M, Cox, A, Cross, SS, Reed, MWR, Schmidt, MK, Broeks, A, Cornelissen, S, Braaf, L, Kang, D, Choi, J-Y, Park, SK, Noh, D-Y, Simard, J, Dumont, M, Goldberg, MS, Labreche, F, Fasching, PA, Hein, A, Ekici, AB, Beckmann, MW, Radice, P, Peterlongo, P, Azzollini, J, Barile, M, Sawyer, E, Tomlinson, I, Kerin, M, Miller, N, Hopper, JL, Schmidt, DF, Makalic, E, Southey, MC, Teo, SH, Yip, CH, Sivanandan, K, Tay, W-T, Shen, C-Y, Hsiung, C-N, Yu, J-C, Hou, M-F, Guenel, P, Therese, T, Sanchez, M, Mulot, C, Blot, W, Cai, Q, Nevanlinna, H, Muranen, TA, Aittomaki, K, Blomqvist, C, Wu, AH, Tseng, C-C, Van den Berg, D, Stram, DO, Bogdanova, N, Doerk, T, Muir, K, Lophatananon, A, Stewart-Brown, S, Siriwanarangsan, P, Mannermaa, A, Kataja, V, Kosma, V-M, Hartikainen, JM, Shu, X-O, Lu, W, Gao, Y-T, Zhang, B, Couch, FJ, Toland, AE, Yannoukakos, D, Sangrajrang, S, McKay, J, Wang, X, Olson, JE, Vachon, C, Purrington, K, Severi, G, Baglietto, L, Haiman, CA, Henderson, BE, Schumacher, F, Le Marchand, L, Devilee, P, Tollenaar, RAEM, Seynaeve, C, Czene, K, Eriksson, M, Humphreys, K, Darabi, H, Ahmed, S, Shah, M, Pharoah, PDP, Hall, P, Giles, GG, Benitez, J, Dunning, AM, Chenevix-Trench, G, Easton, DF, Milne, RL, Burwinkel, B, Michailidou, K, Arias-Perez, J-I, Pilar Zamora, M, Menendez-Rodriguez, P, Hardisson, D, Mendiola, M, Gonzalez-Neira, A, Pita, G, Rosario Alonso, M, Dennis, J, Wang, Q, Bolla, MK, Swerdlow, A, Ashworth, A, Orr, N, Schoemaker, M, Ko, Y-D, Brauch, H, Hamann, U, Andrulis, IL, Knight, JA, Glendon, G, Tchatchou, S, Matsuo, K, Ito, H, Iwata, H, Tajima, K, Li, J, Brand, JS, Brenner, H, Dieffenbach, AK, Arndt, V, Stegmaier, C, Lambrechts, D, Peuteman, G, Christiaens, M-R, Smeets, A, Jakubowska, A, Lubinski, J, Jaworska-Bieniek, K, Durda, K, Hartman, M, Hui, M, Lim, WY, Chan, CW, Marme, F, Yang, R, Bugert, P, Lindblom, A, Margolin, S, Garcia-Closas, M, Chanock, SJ, Lissowska, J, Figueroa, JD, Bojesen, SE, Nordestgaard, BG, Flyger, H, Hooning, MJ, Kriege, M, van den Ouweland, AMW, Koppert, LB, Fletcher, O, Johnson, N, dos-Santos-Silva, I, Peto, J, Zheng, W, Deming-Halverson, S, Shrubsole, MJ, Long, J, Chang-Claude, J, Rudolph, A, Seibold, P, Flesch-Janys, D, Winqvist, R, Pylkas, K, Jukkola-Vuorinen, A, Grip, M, Cox, A, Cross, SS, Reed, MWR, Schmidt, MK, Broeks, A, Cornelissen, S, Braaf, L, Kang, D, Choi, J-Y, Park, SK, Noh, D-Y, Simard, J, Dumont, M, Goldberg, MS, Labreche, F, Fasching, PA, Hein, A, Ekici, AB, Beckmann, MW, Radice, P, Peterlongo, P, Azzollini, J, Barile, M, Sawyer, E, Tomlinson, I, Kerin, M, Miller, N, Hopper, JL, Schmidt, DF, Makalic, E, Southey, MC, Teo, SH, Yip, CH, Sivanandan, K, Tay, W-T, Shen, C-Y, Hsiung, C-N, Yu, J-C, Hou, M-F, Guenel, P, Therese, T, Sanchez, M, Mulot, C, Blot, W, Cai, Q, Nevanlinna, H, Muranen, TA, Aittomaki, K, Blomqvist, C, Wu, AH, Tseng, C-C, Van den Berg, D, Stram, DO, Bogdanova, N, Doerk, T, Muir, K, Lophatananon, A, Stewart-Brown, S, Siriwanarangsan, P, Mannermaa, A, Kataja, V, Kosma, V-M, Hartikainen, JM, Shu, X-O, Lu, W, Gao, Y-T, Zhang, B, Couch, FJ, Toland, AE, Yannoukakos, D, Sangrajrang, S, McKay, J, Wang, X, Olson, JE, Vachon, C, Purrington, K, Severi, G, Baglietto, L, Haiman, CA, Henderson, BE, Schumacher, F, Le Marchand, L, Devilee, P, Tollenaar, RAEM, Seynaeve, C, Czene, K, Eriksson, M, Humphreys, K, Darabi, H, Ahmed, S, Shah, M, Pharoah, PDP, Hall, P, Giles, GG, Benitez, J, Dunning, AM, Chenevix-Trench, G, and Easton, DF
Abstract: Candidate variant association studies have been largely unsuccessful in identifying common breast cancer susceptibility variants, although most studies have been underpowered to detect associations of a realistic magnitude. We assessed 41 common non-synonymous single-nucleotide polymorphisms (nsSNPs) for which evidence of association with breast cancer risk had been previously reported. Case-control data were combined from 38 studies of white European women (46 450 cases and 42 600 controls) and analyzed using unconditional logistic regression. Strong evidence of association was observed for three nsSNPs: ATXN7-K264R at 3p21 [rs1053338, per allele OR = 1.07, 95% confidence interval (CI) = 1.04-1.10, P = 2.9 × 10(-6)], AKAP9-M463I at 7q21 (rs6964587, OR = 1.05, 95% CI = 1.03-1.07, P = 1.7 × 10(-6)) and NEK10-L513S at 3p24 (rs10510592, OR = 1.10, 95% CI = 1.07-1.12, P = 5.1 × 10(-17)). The first two associations reached genome-wide statistical significance in a combined analysis of available data, including independent data from nine genome-wide association studies (GWASs): for ATXN7-K264R, OR = 1.07 (95% CI = 1.05-1.10, P = 1.0 × 10(-8)); for AKAP9-M463I, OR = 1.05 (95% CI = 1.04-1.07, P = 2.0 × 10(-10)). Further analysis of other common variants in these two regions suggested that intronic SNPs nearby are more strongly associated with disease risk. We have thus identified a novel susceptibility locus at 3p21, and confirmed previous suggestive evidence that rs6964587 at 7q21 is associated with risk. The third locus, rs10510592, is located in an established breast cancer susceptibility region; the association was substantially attenuated after adjustment for the known GWAS hit. Thus, each of the associated nsSNPs is likely to be a marker for another, non-coding, variant causally related to breast cancer risk. Further fine-mapping and functional studies are required to identify the underlying risk-modifying variants and the genes through which they act.
Published: 2014

43. MicroRNA Related Polymorphisms and Breast Cancer Risk

Author: Zhao, Z, Khan, S, Greco, D, Michailidou, K, Milne, RL, Muranen, TA, Heikkinen, T, Aaltonen, K, Dennis, J, Bolla, MK, Liu, J, Hall, P, Irwanto, A, Humphreys, K, Li, J, Czene, K, Chang-Claude, J, Hein, R, Rudolph, A, Seibold, P, Flesch-Janys, D, Fletcher, O, Peto, J, Silva, IDS, Johnson, N, Gibson, L, Aitken, Z, Hopper, JL, Tsimiklis, H, Bui, M, Makalic, E, Schmidt, DF, Southey, MC, Apicella, C, Stone, J, Waisfisz, Q, Meijers-Heijboer, H, Adank, MA, van der Luijt, RB, Meindl, A, Schmutzler, RK, Muller-Myhsok, B, Lichtner, P, Turnbull, C, Rahman, N, Chanock, SJ, Hunter, DJ, Cox, A, Cross, SS, Reed, MWR, Schmidt, MK, Broeks, A, Van't Veer, LJ, Hogervorst, FB, Fasching, PA, Schrauder, MG, Ekici, AB, Beckmann, MW, Bojesen, SE, Nordestgaard, BG, Nielsen, SF, Flyger, H, Benitez, J, Zamora, PM, Perez, JIA, Haiman, CA, Henderson, BE, Schumacher, F, Le Marchand, L, Pharoah, PDP, Dunning, AM, Shah, M, Luben, R, Brown, J, Couch, FJ, Wang, X, Vachon, C, Olson, JE, Lambrechts, D, Moisse, M, Paridaens, R, Christiaens, M-R, Guenel, P, Truong, T, Laurent-Puig, P, Mulot, C, Marme, F, Burwinkel, B, Schneeweiss, A, Sohn, C, Sawyer, EJ, Tomlinson, I, Kerin, MJ, Miller, N, Andrulis, IL, Knight, JA, Tchatchou, S, Mulligan, AM, Dork, T, Bogdanova, NV, Antonenkova, NN, Anton-Culver, H, Darabi, H, Eriksson, M, Garcia-Closas, M, Figueroa, J, Lissowska, J, Brinton, L, Devilee, P, Tollenaar, RAEM, Seynaeve, C, van Asperen, CJ, Kristensen, VN, Slager, S, Toland, AE, Ambrosone, CB, Yannoukakos, D, Lindblom, A, Margolin, S, Radice, P, Peterlongo, P, Barile, M, Mariani, P, Hooning, MJ, Martens, JWM, Collee, JM, Jager, A, Jakubowska, A, Lubinski, J, Jaworska-Bieniek, K, Durda, K, Giles, GG, McLean, C, Brauch, H, Bruning, T, Ko, Y-D, Brenner, H, Dieffenbach, AK, Arndt, V, Stegmaier, C, Swerdlow, A, Ashworth, A, Orr, N, Jones, M, Simard, J, Goldberg, MS, Labreche, F, Dumont, M, Winqvist, R, Pylkas, K, Jukkola-Vuorinen, A, Grip, M, Kataja, V, Kosma, V-M, Hartikainen, JM, Mannermaa, A, Hamann, U, Chenevix-Trench, G, Blomqvist, C, Aittomaki, K, Easton, DF, Nevanlinna, H, Zhao, Z, Khan, S, Greco, D, Michailidou, K, Milne, RL, Muranen, TA, Heikkinen, T, Aaltonen, K, Dennis, J, Bolla, MK, Liu, J, Hall, P, Irwanto, A, Humphreys, K, Li, J, Czene, K, Chang-Claude, J, Hein, R, Rudolph, A, Seibold, P, Flesch-Janys, D, Fletcher, O, Peto, J, Silva, IDS, Johnson, N, Gibson, L, Aitken, Z, Hopper, JL, Tsimiklis, H, Bui, M, Makalic, E, Schmidt, DF, Southey, MC, Apicella, C, Stone, J, Waisfisz, Q, Meijers-Heijboer, H, Adank, MA, van der Luijt, RB, Meindl, A, Schmutzler, RK, Muller-Myhsok, B, Lichtner, P, Turnbull, C, Rahman, N, Chanock, SJ, Hunter, DJ, Cox, A, Cross, SS, Reed, MWR, Schmidt, MK, Broeks, A, Van't Veer, LJ, Hogervorst, FB, Fasching, PA, Schrauder, MG, Ekici, AB, Beckmann, MW, Bojesen, SE, Nordestgaard, BG, Nielsen, SF, Flyger, H, Benitez, J, Zamora, PM, Perez, JIA, Haiman, CA, Henderson, BE, Schumacher, F, Le Marchand, L, Pharoah, PDP, Dunning, AM, Shah, M, Luben, R, Brown, J, Couch, FJ, Wang, X, Vachon, C, Olson, JE, Lambrechts, D, Moisse, M, Paridaens, R, Christiaens, M-R, Guenel, P, Truong, T, Laurent-Puig, P, Mulot, C, Marme, F, Burwinkel, B, Schneeweiss, A, Sohn, C, Sawyer, EJ, Tomlinson, I, Kerin, MJ, Miller, N, Andrulis, IL, Knight, JA, Tchatchou, S, Mulligan, AM, Dork, T, Bogdanova, NV, Antonenkova, NN, Anton-Culver, H, Darabi, H, Eriksson, M, Garcia-Closas, M, Figueroa, J, Lissowska, J, Brinton, L, Devilee, P, Tollenaar, RAEM, Seynaeve, C, van Asperen, CJ, Kristensen, VN, Slager, S, Toland, AE, Ambrosone, CB, Yannoukakos, D, Lindblom, A, Margolin, S, Radice, P, Peterlongo, P, Barile, M, Mariani, P, Hooning, MJ, Martens, JWM, Collee, JM, Jager, A, Jakubowska, A, Lubinski, J, Jaworska-Bieniek, K, Durda, K, Giles, GG, McLean, C, Brauch, H, Bruning, T, Ko, Y-D, Brenner, H, Dieffenbach, AK, Arndt, V, Stegmaier, C, Swerdlow, A, Ashworth, A, Orr, N, Jones, M, Simard, J, Goldberg, MS, Labreche, F, Dumont, M, Winqvist, R, Pylkas, K, Jukkola-Vuorinen, A, Grip, M, Kataja, V, Kosma, V-M, Hartikainen, JM, Mannermaa, A, Hamann, U, Chenevix-Trench, G, Blomqvist, C, Aittomaki, K, Easton, DF, and Nevanlinna, H
Abstract: Genetic variations, such as single nucleotide polymorphisms (SNPs) in microRNAs (miRNA) or in the miRNA binding sites may affect the miRNA dependent gene expression regulation, which has been implicated in various cancers, including breast cancer, and may alter individual susceptibility to cancer. We investigated associations between miRNA related SNPs and breast cancer risk. First we evaluated 2,196 SNPs in a case-control study combining nine genome wide association studies (GWAS). Second, we further investigated 42 SNPs with suggestive evidence for association using 41,785 cases and 41,880 controls from 41 studies included in the Breast Cancer Association Consortium (BCAC). Combining the GWAS and BCAC data within a meta-analysis, we estimated main effects on breast cancer risk as well as risks for estrogen receptor (ER) and age defined subgroups. Five miRNA binding site SNPs associated significantly with breast cancer risk: rs1045494 (odds ratio (OR) 0.92; 95% confidence interval (CI): 0.88-0.96), rs1052532 (OR 0.97; 95% CI: 0.95-0.99), rs10719 (OR 0.97; 95% CI: 0.94-0.99), rs4687554 (OR 0.97; 95% CI: 0.95-0.99, and rs3134615 (OR 1.03; 95% CI: 1.01-1.05) located in the 3' UTR of CASP8, HDDC3, DROSHA, MUSTN1, and MYCL1, respectively. DROSHA belongs to miRNA machinery genes and has a central role in initial miRNA processing. The remaining genes are involved in different molecular functions, including apoptosis and gene expression regulation. Further studies are warranted to elucidate whether the miRNA binding site SNPs are the causative variants for the observed risk effects.
Published: 2014

44. FGF receptor genes and breast cancer susceptibility: results from the Breast Cancer Association Consortium

Author: Agarwal, D, Pineda, S, Michailidou, K, Herranz, J, Pita, G, Moreno, LT, Alonso, MR, Dennis, J, Wang, Q, Bolla, MK, Meyer, KB, Menendez-Rodriguez, P, Hardisson, D, Mendiola, M, Gonzalez-Neira, A, Lindblom, A, Margolin, S, Swerdlow, A, Ashworth, A, Orr, N, Jones, M, Matsuo, K, Ito, H, Iwata, H, Kondo, N, Hartman, M, Hui, M, Lim, WY, Iau, PT-C, Sawyer, E, Tomlinson, I, Kerin, M, Miller, N, Kang, D, Choi, J-Y, Park, SK, Noh, D-Y, Hopper, JL, Schmidt, DF, Makalic, E, Southey, MC, Teo, SH, Yip, CH, Sivanandan, K, Tay, W-T, Brauch, H, Bruening, T, Hamann, U, Dunning, AM, Shah, M, Andrulis, IL, Knight, JA, Glendon, G, Tchatchou, S, Schmidt, MK, Broeks, A, Rosenberg, EH, van't Veer, LJ, Fasching, PA, Renner, SP, Ekici, AB, Beckmann, MW, Shen, C-Y, Hsiung, C-N, Yu, J-C, Hou, M-F, Blot, W, Cai, Q, Wu, AH, Tseng, C-C, Van Den Berg, D, Stram, DO, Cox, A, Brock, IW, Reed, MWR, Muir, K, Lophatananon, A, Stewart-Brown, S, Siriwanarangsan, P, Zheng, W, Deming-Halverson, S, Shrubsole, MJ, Long, J, Shu, X-O, Lu, W, Gao, Y-T, Zhang, B, Radice, P, Peterlongo, P, Manoukian, S, Mariette, F, Sangrajrang, S, Mckay, J, Couch, FJ, Toland, AE, Yannoukakos, D, Fletcher, O, Johnson, N, dos Santos Silva, I, Peto, J, Marme, F, Burwinkel, B, Guenel, P, Truong, T, Sanchez, M, Mulot, C, Bojesen, SE, Nordestgaard, BG, Flyer, H, Brenner, H, Dieffenbach, AK, Arndt, V, Stegmaier, C, Mannermaa, A, Kataja, V, Kosma, V-M, Hartikainen, JM, Lambrechts, D, Yesilyurt, BT, Floris, G, Leunen, K, Chang-Claude, J, Rudolph, A, Seibold, P, Flesch-Janys, D, Wang, X, Olson, JE, Vachon, C, Purrington, K, Giles, GG, Severi, G, Baglietto, L, Haiman, CA, Henderson, BE, Schumacher, F, Le Marchand, L, Simard, J, Dumont, M, Goldberg, MS, Labreche, F, Winqvist, R, Pylkaes, K, Jukkola-Vuorinen, A, Grip, M, Devilee, P, Tollenaar, RAEM, Seynaeve, C, Garcia-Closas, M, Chanock, SJ, Lissowska, J, Figueroa, JD, Czene, K, Eriksson, M, Humphreys, K, Darabi, H, Hooning, MJ, Kriege, M, Collee, JM, Tilanus-Linthorst, M, Li, J, Jakubowska, A, Lubinski, J, Jaworska-Bieniek, K, Durda, K, Nevanlinna, H, Muranen, TA, Aittomaeki, K, Blomqvist, C, Bogdanova, N, Doerk, T, Hall, P, Chenevix-Trench, G, Easton, DF, Pharoah, PDP, Arias-Perez, JI, Zamora, P, Benitez, J, Milne, RL, Agarwal, D, Pineda, S, Michailidou, K, Herranz, J, Pita, G, Moreno, LT, Alonso, MR, Dennis, J, Wang, Q, Bolla, MK, Meyer, KB, Menendez-Rodriguez, P, Hardisson, D, Mendiola, M, Gonzalez-Neira, A, Lindblom, A, Margolin, S, Swerdlow, A, Ashworth, A, Orr, N, Jones, M, Matsuo, K, Ito, H, Iwata, H, Kondo, N, Hartman, M, Hui, M, Lim, WY, Iau, PT-C, Sawyer, E, Tomlinson, I, Kerin, M, Miller, N, Kang, D, Choi, J-Y, Park, SK, Noh, D-Y, Hopper, JL, Schmidt, DF, Makalic, E, Southey, MC, Teo, SH, Yip, CH, Sivanandan, K, Tay, W-T, Brauch, H, Bruening, T, Hamann, U, Dunning, AM, Shah, M, Andrulis, IL, Knight, JA, Glendon, G, Tchatchou, S, Schmidt, MK, Broeks, A, Rosenberg, EH, van't Veer, LJ, Fasching, PA, Renner, SP, Ekici, AB, Beckmann, MW, Shen, C-Y, Hsiung, C-N, Yu, J-C, Hou, M-F, Blot, W, Cai, Q, Wu, AH, Tseng, C-C, Van Den Berg, D, Stram, DO, Cox, A, Brock, IW, Reed, MWR, Muir, K, Lophatananon, A, Stewart-Brown, S, Siriwanarangsan, P, Zheng, W, Deming-Halverson, S, Shrubsole, MJ, Long, J, Shu, X-O, Lu, W, Gao, Y-T, Zhang, B, Radice, P, Peterlongo, P, Manoukian, S, Mariette, F, Sangrajrang, S, Mckay, J, Couch, FJ, Toland, AE, Yannoukakos, D, Fletcher, O, Johnson, N, dos Santos Silva, I, Peto, J, Marme, F, Burwinkel, B, Guenel, P, Truong, T, Sanchez, M, Mulot, C, Bojesen, SE, Nordestgaard, BG, Flyer, H, Brenner, H, Dieffenbach, AK, Arndt, V, Stegmaier, C, Mannermaa, A, Kataja, V, Kosma, V-M, Hartikainen, JM, Lambrechts, D, Yesilyurt, BT, Floris, G, Leunen, K, Chang-Claude, J, Rudolph, A, Seibold, P, Flesch-Janys, D, Wang, X, Olson, JE, Vachon, C, Purrington, K, Giles, GG, Severi, G, Baglietto, L, Haiman, CA, Henderson, BE, Schumacher, F, Le Marchand, L, Simard, J, Dumont, M, Goldberg, MS, Labreche, F, Winqvist, R, Pylkaes, K, Jukkola-Vuorinen, A, Grip, M, Devilee, P, Tollenaar, RAEM, Seynaeve, C, Garcia-Closas, M, Chanock, SJ, Lissowska, J, Figueroa, JD, Czene, K, Eriksson, M, Humphreys, K, Darabi, H, Hooning, MJ, Kriege, M, Collee, JM, Tilanus-Linthorst, M, Li, J, Jakubowska, A, Lubinski, J, Jaworska-Bieniek, K, Durda, K, Nevanlinna, H, Muranen, TA, Aittomaeki, K, Blomqvist, C, Bogdanova, N, Doerk, T, Hall, P, Chenevix-Trench, G, Easton, DF, Pharoah, PDP, Arias-Perez, JI, Zamora, P, Benitez, J, and Milne, RL
Abstract: BACKGROUND: Breast cancer is one of the most common malignancies in women. Genome-wide association studies have identified FGFR2 as a breast cancer susceptibility gene. Common variation in other fibroblast growth factor (FGF) receptors might also modify risk. We tested this hypothesis by studying genotyped single-nucleotide polymorphisms (SNPs) and imputed SNPs in FGFR1, FGFR3, FGFR4 and FGFRL1 in the Breast Cancer Association Consortium. METHODS: Data were combined from 49 studies, including 53 835 cases and 50 156 controls, of which 89 050 (46 450 cases and 42 600 controls) were of European ancestry, 12 893 (6269 cases and 6624 controls) of Asian and 2048 (1116 cases and 932 controls) of African ancestry. Associations with risk of breast cancer, overall and by disease sub-type, were assessed using unconditional logistic regression. RESULTS: Little evidence of association with breast cancer risk was observed for SNPs in the FGF receptor genes. The strongest evidence in European women was for rs743682 in FGFR3; the estimated per-allele odds ratio was 1.05 (95% confidence interval=1.02-1.09, P=0.0020), which is substantially lower than that observed for SNPs in FGFR2. CONCLUSION: Our results suggest that common variants in the other FGF receptors are not associated with risk of breast cancer to the degree observed for FGFR2.
Published: 2014

45. MicroRNA Related Polymorphisms and Breast Cancer Risk

Author: Khan, Salima, Greco, D, Michailidou, K, Milne, RL, Muranen, TA, Heikkinen, T, Aaltonen, K, Dennis, J, Bolla, MK, Liu, J (Jingjing), Hall, P, Irwanto, A, Humphreys, K, Li, J, Czene, K, Chang-Claude, J, Hein, R, Rudolph, A, Seibold, P, Flesch-Janys, D, Fletcher, O, Peto, J, Silva, ID, Johnson, N, Gibson, L, Aitken, Z, Hopper, JL, Tsimiklis, H, Bui, M, Makalic, E, Schmidt, DF, Southey, MC, Apicella, C, Stone, J, Waisfisz, Q, Meijers-Heijboer, H, Adank, MA (Muriel), van der Luijt, RB, Meindl, A, Schmutzler, RK, Muller-Myhsok, B, Lichtner, P, Turnbull, C, Rahman, N, Chanock, SJ, Hunter, DJ, Cox, A, Cross, SS, Reed, MWR, Schmidt, MK (Marjanka), Broeks, A, van 't Veer, LJ (Laura), Hogervorst, FB, Fasching, PA, Schrauder, MG, Ekici, AB, Beckmann, MW, Bojesen, SE, Nordestgaard, BG, Nielsen, SF, Flyger, H, Benitez, J, Zamora, PM, Perez, JIA, Haiman, CA, Henderson, BE, Schumacher, F, Le Marchand, L, Pharoah, PDP, Dunning, AM, Shah, M, Luben, R, Brown, J, Couch, FJ, Wang, X, Vachon, C, Olson, JE, Lambrechts, D, Moisse, M, Paridaens, R, Christiaens, MR, Guenel, P, Truong, T, Laurent-Puig, P, Mulot, C, Marme, F, Burwinkel, B, Schneeweiss, A, Sohn, C, Sawyer, EJ, Tomlinson, I, Kerin, MJ, Miller, N, Andrulis, IL, Knight, JA, Tchatchou, S, Mulligan, AM, Dork, T, Bogdanova, NV, Antonenkova, NN, Anton-Culver, H, Darabi, H, Eriksson, M, Garcia-Closas, M, Figueroa, J, Lissowska, J, Brinton, L, Devilee, P, Tollenaar, RAEM, Seynaeve, Caroline, van Asperen, CJ, Kristensen, VN, Slager, S, Toland, AE, Ambrosone, CB, Yannoukakos, D, Lindblom, A, Margolin, S, Radice, P, Peterlongo, P, Barile, M, Mariani, P, Hooning, Maartje, Martens, John, Collee, Margriet, Jager, Agnes, Jakubowska, A, Lubinski, J, Jaworska-Bieniek, K, Durda, K, Giles, GG, McLean, C, Brauch, H, Bruning, T, Ko, YD, Brenner, H, Dieffenbach, AK, Arndt, V, Stegmaier, C, Swerdlow, A, Ashworth, A, Orr, N, Jones, M, Simard, J, Goldberg, MS, Labreche, F, Dumont, M, Winqvist, R, Pylkas, K, Jukkola-Vuorinen, A, Grip, M, Kataja, V, Kosma, VM, Hartikainen, JM, Mannermaa, A, Hamann, U, Chenevix-Trench, G, Blomqvist, C, Aittomaki, K, Easton, DF, Nevanlinna, H, Khan, Salima, Greco, D, Michailidou, K, Milne, RL, Muranen, TA, Heikkinen, T, Aaltonen, K, Dennis, J, Bolla, MK, Liu, J (Jingjing), Hall, P, Irwanto, A, Humphreys, K, Li, J, Czene, K, Chang-Claude, J, Hein, R, Rudolph, A, Seibold, P, Flesch-Janys, D, Fletcher, O, Peto, J, Silva, ID, Johnson, N, Gibson, L, Aitken, Z, Hopper, JL, Tsimiklis, H, Bui, M, Makalic, E, Schmidt, DF, Southey, MC, Apicella, C, Stone, J, Waisfisz, Q, Meijers-Heijboer, H, Adank, MA (Muriel), van der Luijt, RB, Meindl, A, Schmutzler, RK, Muller-Myhsok, B, Lichtner, P, Turnbull, C, Rahman, N, Chanock, SJ, Hunter, DJ, Cox, A, Cross, SS, Reed, MWR, Schmidt, MK (Marjanka), Broeks, A, van 't Veer, LJ (Laura), Hogervorst, FB, Fasching, PA, Schrauder, MG, Ekici, AB, Beckmann, MW, Bojesen, SE, Nordestgaard, BG, Nielsen, SF, Flyger, H, Benitez, J, Zamora, PM, Perez, JIA, Haiman, CA, Henderson, BE, Schumacher, F, Le Marchand, L, Pharoah, PDP, Dunning, AM, Shah, M, Luben, R, Brown, J, Couch, FJ, Wang, X, Vachon, C, Olson, JE, Lambrechts, D, Moisse, M, Paridaens, R, Christiaens, MR, Guenel, P, Truong, T, Laurent-Puig, P, Mulot, C, Marme, F, Burwinkel, B, Schneeweiss, A, Sohn, C, Sawyer, EJ, Tomlinson, I, Kerin, MJ, Miller, N, Andrulis, IL, Knight, JA, Tchatchou, S, Mulligan, AM, Dork, T, Bogdanova, NV, Antonenkova, NN, Anton-Culver, H, Darabi, H, Eriksson, M, Garcia-Closas, M, Figueroa, J, Lissowska, J, Brinton, L, Devilee, P, Tollenaar, RAEM, Seynaeve, Caroline, van Asperen, CJ, Kristensen, VN, Slager, S, Toland, AE, Ambrosone, CB, Yannoukakos, D, Lindblom, A, Margolin, S, Radice, P, Peterlongo, P, Barile, M, Mariani, P, Hooning, Maartje, Martens, John, Collee, Margriet, Jager, Agnes, Jakubowska, A, Lubinski, J, Jaworska-Bieniek, K, Durda, K, Giles, GG, McLean, C, Brauch, H, Bruning, T, Ko, YD, Brenner, H, Dieffenbach, AK, Arndt, V, Stegmaier, C, Swerdlow, A, Ashworth, A, Orr, N, Jones, M, Simard, J, Goldberg, MS, Labreche, F, Dumont, M, Winqvist, R, Pylkas, K, Jukkola-Vuorinen, A, Grip, M, Kataja, V, Kosma, VM, Hartikainen, JM, Mannermaa, A, Hamann, U, Chenevix-Trench, G, Blomqvist, C, Aittomaki, K, Easton, DF, and Nevanlinna, H
Abstract: Genetic variations, such as single nucleotide polymorphisms (SNPs) in microRNAs (miRNA) or in the miRNA binding sites may affect the miRNA dependent gene expression regulation, which has been implicated in various cancers, including breast cancer, and may alter individual susceptibility to cancer. We investigated associations between miRNA related SNPs and breast cancer risk. First we evaluated 2,196 SNPs in a case-control study combining nine genome wide association studies (GWAS). Second, we further investigated 42 SNPs with suggestive evidence for association using 41,785 cases and 41,880 controls from 41 studies included in the Breast Cancer Association Consortium (BCAC). Combining the GWAS and BCAC data within a meta-analysis, we estimated main effects on breast cancer risk as well as risks for estrogen receptor (ER) and age defined subgroups. Five miRNA binding site SNPs associated significantly with breast cancer risk: rs1045494 (odds ratio (OR) 0.92; 95% confidence interval (CI): 0.88-0.96), rs1052532 (OR 0.97; 95% CI: 0.95-0.99), rs10719 (OR 0.97; 95% CI: 0.94-0.99), rs4687554 (OR 0.97; 95% CI: 0.95-0.99, and rs3134615 (OR 1.03; 95% CI: 1.01-1.05) located in the 3' UTR of CASP8, HDDC3, DROSHA, MUSTN1, and MYCL1, respectively. DROSHA belongs to miRNA machinery genes and has a central role in initial miRNA processing. The remaining genes are involved in different molecular functions, including apoptosis and gene expression regulation. Further studies are warranted to elucidate whether the miRNA binding site SNPs are the causative variants for the observed risk effects.
Published: 2014

46. 480O - Prognostic value of methylator phenotype in stage III colon cancer treated with oxaliplatin-based adjuvant chemotherapy

Author: Gallois, C., Taieb, J., Le Corre, D., Le Malicot, K., Tabernero, J., Mulot, C., Seitz, J.-F., Aparicio, T., Folprecht, G., Lepage, C., Mini, E., Van Laethem, J.-L., Emile, J.F., and Laurent-Puig, P.
Published: 2017
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47. 9q31.2-rs865686 as a susceptibility locus for estrogen receptor-positive breast cancer: Evidence from the Breast Cancer Association Consortium

Author: Warren, H. (Helen), Dudbridge, F. (Frank), Fletcher, O. (Olivia), Orr, N. (Nick), Johnson, N. (Nichola), Hopper, J.L. (John), Apicella, C. (Carmel), Southey, M.C. (Melissa), Mahmoodi, M. (Maryam), Schmidt, M.K. (Marjanka), Broeks, A. (Annegien), Cornelissen, S. (Sten), Braaf, L.M. (Linde), Muir, K.R. (Kenneth), Lophatananon, A. (Artitaya), Chaiwerawattana, A. (Arkom), Wiangnon, S. (Surapon), Fasching, P.A. (Peter), Beckmann, M.W. (Matthias), Ekici, A.B. (Arif), Schulz-Wendtland, R. (Rüdiger), Sawyer, E.J. (Elinor), Tomlinson, I.P. (Ian), Kerin, M. (Michael), Burwinkel, B. (Barbara), Marme, F. (Federick), Schneeweiss, A. (Andreas), Sohn, C. (Christof), Guénel, P. (Pascal), Truong, T. (Thérèse), Laurent-Puig, P. (Pierre), Mulot, C. (Claire), Bojesen, S.E. (Stig), Nielsen, S.F. (Sune), Flyger, H. (Henrik), Nordestgaard, B.G. (Børge), Milne, R.L. (Roger), Benítez, J. (Javier), Arias Pérez, J.I. (José Ignacio), Zamora, M.P. (Pilar), Anton-Culver, H. (Hoda), Ziogas, A. (Argyrios), Bernstein, L. (Leslie), Dur, C.C. (Christina Clarke), Brenner, H. (Hermann), Müller, H. (Heike), Arndt, V. (Volker), Langheinz, A. (Anne), Meindl, A. (Alfons), Golatta, M. (Michael), Bartram, C.R. (Claus), Schmutzler, R.K. (Rita), Brauch, H. (Hiltrud), Justenhoven, C. (Christina), Brüning, T. (Thomas), Chang-Claude, J. (Jenny), Wang-Gohrke, S. (Shan), Eilber, U. (Ursula), Dörk, T. (Thilo), Schürmann, P. (Peter), Bremer, M. (Michael), Hillemanns, P. (Peter), Nevanlinna, H. (Heli), Muranen, T.A. (Taru), Aittomäki, K. (Kristiina), Blomqvist, C. (Carl), Bogdanova, N.V. (Natalia), Antonenkova, N.N. (Natalia), Rogov, Y.I. (Yuri), Bermisheva, M. (Marina), Prokofyeva, D. (Darya), Zinnatullina, G. (Guzel), Khusnutdinova, E.K. (Elza), Lindblom, A. (Annika), Margolin, S. (Sara), Mannermaa, A. (Arto), Kosma, V-M. (Veli-Matti), Hartikainen, J. (Jaana), Kataja, V. (Vesa), Chenevix-Trench, G. (Georgia), Beesley, J. (Jonathan), Chen, X. (Xiaoqing), Lambrechts, D. (Diether), Smeets, A. (Ann), Paridaens, R. (Robert), Weltens, C. (Caroline), Flesch-Janys, D. (Dieter), Buck, K. (Katharina), Behrens, T.W. (Timothy), Peterlongo, P. (Paolo), Bernard, L. (Loris), Manoukian, S. (Siranoush), Radice, P. (Paolo), Couch, F.J. (Fergus), Vachon, C. (Celine), Wang, X. (Xing), Olson, J.E. (Janet), Giles, G.G. (Graham), Baglietto, L. (Laura), McLean, C.A. (Cariona), Severi, G. (Gianluca), John, E.M. (Esther), Miron, A. (Alexander), Winqvist, R. (Robert), Pykäs, K. (Katri), Jukkola-Vuorinen, A. (Arja), Grip, M. (Mervi), Andrulis, I.L. (Irene), Knight, J.A. (Julia), Mulligan, A.M. (Anna Marie), Weerasooriya, N. (Nayana), Devilee, P. (Peter), Tollenaar, R.A.E.M. (Rob), Martens, J.W.M. (John), Seynaeve, C.M. (Caroline), Hooning, M.J. (Maartje), Hollestelle, A. (Antoinette), Jager, A. (Agnes), Tilanus-Linthorst, M.M.A. (Madeleine), Hall, P. (Per), Czene, K. (Kamila), Liu, J. (Jianjun), Li, J. (Jingmei), Cox, A. (Angela), Cross, S.S. (Simon), Brock, I.W. (Ian), Reed, M.W.R. (Malcolm), Pharoah, P.D.P. (Paul), Blows, F. (Fiona), Dunning, A.M. (Alison), Ghoussaini, M. (Maya), Ashworth, A. (Alan), Swerdlow, A.J. (Anthony ), Jones, M. (Marta), Schoemaker, M. (Minouk), Easton, D.F. (Douglas), Humphreys, M.K. (Manjeet), Wang, Q. (Qing), Peto, J. (Julian), Santos Silva, I. (Isabel) dos, Warren, H. (Helen), Dudbridge, F. (Frank), Fletcher, O. (Olivia), Orr, N. (Nick), Johnson, N. (Nichola), Hopper, J.L. (John), Apicella, C. (Carmel), Southey, M.C. (Melissa), Mahmoodi, M. (Maryam), Schmidt, M.K. (Marjanka), Broeks, A. (Annegien), Cornelissen, S. (Sten), Braaf, L.M. (Linde), Muir, K.R. (Kenneth), Lophatananon, A. (Artitaya), Chaiwerawattana, A. (Arkom), Wiangnon, S. (Surapon), Fasching, P.A. (Peter), Beckmann, M.W. (Matthias), Ekici, A.B. (Arif), Schulz-Wendtland, R. (Rüdiger), Sawyer, E.J. (Elinor), Tomlinson, I.P. (Ian), Kerin, M. (Michael), Burwinkel, B. (Barbara), Marme, F. (Federick), Schneeweiss, A. (Andreas), Sohn, C. (Christof), Guénel, P. (Pascal), Truong, T. (Thérèse), Laurent-Puig, P. (Pierre), Mulot, C. (Claire), Bojesen, S.E. (Stig), Nielsen, S.F. (Sune), Flyger, H. (Henrik), Nordestgaard, B.G. (Børge), Milne, R.L. (Roger), Benítez, J. (Javier), Arias Pérez, J.I. (José Ignacio), Zamora, M.P. (Pilar), Anton-Culver, H. (Hoda), Ziogas, A. (Argyrios), Bernstein, L. (Leslie), Dur, C.C. (Christina Clarke), Brenner, H. (Hermann), Müller, H. (Heike), Arndt, V. (Volker), Langheinz, A. (Anne), Meindl, A. (Alfons), Golatta, M. (Michael), Bartram, C.R. (Claus), Schmutzler, R.K. (Rita), Brauch, H. (Hiltrud), Justenhoven, C. (Christina), Brüning, T. (Thomas), Chang-Claude, J. (Jenny), Wang-Gohrke, S. (Shan), Eilber, U. (Ursula), Dörk, T. (Thilo), Schürmann, P. (Peter), Bremer, M. (Michael), Hillemanns, P. (Peter), Nevanlinna, H. (Heli), Muranen, T.A. (Taru), Aittomäki, K. (Kristiina), Blomqvist, C. (Carl), Bogdanova, N.V. (Natalia), Antonenkova, N.N. (Natalia), Rogov, Y.I. (Yuri), Bermisheva, M. (Marina), Prokofyeva, D. (Darya), Zinnatullina, G. (Guzel), Khusnutdinova, E.K. (Elza), Lindblom, A. (Annika), Margolin, S. (Sara), Mannermaa, A. (Arto), Kosma, V-M. (Veli-Matti), Hartikainen, J. (Jaana), Kataja, V. (Vesa), Chenevix-Trench, G. (Georgia), Beesley, J. (Jonathan), Chen, X. (Xiaoqing), Lambrechts, D. (Diether), Smeets, A. (Ann), Paridaens, R. (Robert), Weltens, C. (Caroline), Flesch-Janys, D. (Dieter), Buck, K. (Katharina), Behrens, T.W. (Timothy), Peterlongo, P. (Paolo), Bernard, L. (Loris), Manoukian, S. (Siranoush), Radice, P. (Paolo), Couch, F.J. (Fergus), Vachon, C. (Celine), Wang, X. (Xing), Olson, J.E. (Janet), Giles, G.G. (Graham), Baglietto, L. (Laura), McLean, C.A. (Cariona), Severi, G. (Gianluca), John, E.M. (Esther), Miron, A. (Alexander), Winqvist, R. (Robert), Pykäs, K. (Katri), Jukkola-Vuorinen, A. (Arja), Grip, M. (Mervi), Andrulis, I.L. (Irene), Knight, J.A. (Julia), Mulligan, A.M. (Anna Marie), Weerasooriya, N. (Nayana), Devilee, P. (Peter), Tollenaar, R.A.E.M. (Rob), Martens, J.W.M. (John), Seynaeve, C.M. (Caroline), Hooning, M.J. (Maartje), Hollestelle, A. (Antoinette), Jager, A. (Agnes), Tilanus-Linthorst, M.M.A. (Madeleine), Hall, P. (Per), Czene, K. (Kamila), Liu, J. (Jianjun), Li, J. (Jingmei), Cox, A. (Angela), Cross, S.S. (Simon), Brock, I.W. (Ian), Reed, M.W.R. (Malcolm), Pharoah, P.D.P. (Paul), Blows, F. (Fiona), Dunning, A.M. (Alison), Ghoussaini, M. (Maya), Ashworth, A. (Alan), Swerdlow, A.J. (Anthony ), Jones, M. (Marta), Schoemaker, M. (Minouk), Easton, D.F. (Douglas), Humphreys, M.K. (Manjeet), Wang, Q. (Qing), Peto, J. (Julian), and Santos Silva, I. (Isabel) dos
Abstract: Background: Our recent genome-wide association study identified a novel breast cancer susceptibility locus at 9q31.2 (rs865686). Methods: To further investigate the rs865686-breast cancer association, we conducted a replication study within the Breast Cancer Association Consortium, which comprises 37 case-control studies (48,394 cases, 50,836 controls). Results: This replication study provides additional strong evidence of an inverse association between rs865686 and breast cancer risk [study-adjusted per G-allele OR, 0.90; 95% confidence interval (CI), 0.88; 0.91, P =2.01 × 10-29] among women of European ancestry. There were ethnic differences in the estimated minor (G)-allele frequency among controls [0.09, 0.30, and 0.38 among, respectively, Asians, Eastern Europeans, and other Europeans; P for heterogeneity (Phet) = 1.3 × 10-143], but no evidence of ethnic differences in per allele OR (Phet = 0.43). rs865686 was associated with estrogen receptor-positive (ER+) disease (per G-allele OR, 0.89; 95% CI, 0.86-0.91; P = 3.13 × 10-22) but less strongly, if at all, with ER-negative (ER+) disease (OR, 0.98; 95% CI, 0.94-1.02; P = 0.26; Phet = 1.16 × 10-6), with no evidence of independent heterogeneity by progesterone receptor or HER2 status. The strength of the breast cancer association decreased with increasing age at diagnosis, with case-only analysis showing a trend in the number of copies of theG
Published: 2012
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48. 9q31.2-rs865686 as a Susceptibility Locus for Estrogen Receptor-Positive Breast Cancer: Evidence from the Breast Cancer Association Consortium

Author: Warren, H, Dudbridge, F, Fletcher, O, Orr, N, Johnson, N, Hopper, JL, Apicella, C, Southey, MC, Mahmoodi, M, Schmidt, MK, Broeks, A, Cornelissen, S, Braaf, LM, Muir, KR, Lophatananon, A, Chaiwerawattana, A, Wiangnon, S, Fasching, PA, Beckmann, MW, Ekici, AB, Schulz-Wendtland, R, Sawyer, EJ, Tomlinson, I, Kerin, M, Burwinkel, B, Marme, F, Schneeweiss, A, Sohn, C, Guenel, P, Therese, T, Laurent-Puig, P, Mulot, C, Bojesen, SE, Nielsen, SF, Flyger, H, Nordestgaard, BG, Milne, RL, Benitez, J, Arias-Perez, J-I, Pilar Zamora, M, Anton-Culver, H, Ziogas, A, Bernstein, L, Dur, CC, Brenner, H, Mueller, H, Arndt, V, Langheinz, A, Meindl, A, Golatta, M, Bartram, CR, Schmutzler, RK, Brauch, H, Justenhoven, C, Bruening, T, Chang-Claude, J, Wang-Gohrke, S, Eilber, U, Doerk, T, Schuermann, P, Bremer, M, Hillemanns, P, Nevanlinna, H, Muranen, TA, Aittomaki, K, Blomqvist, C, Bogdanova, N, Antonenkova, N, Rogov, Y, Bermisheva, M, Prokofyeva, D, Zinnatullina, G, Khusnutdinova, E, Lindblom, A, Margolin, S, Mannermaa, A, Kosma, V-M, Hartikainen, JM, Kataja, V, Chenevix-Trench, G, Beesley, J, Chen, X, Lambrechts, D, Smeets, A, Paridaens, R, Weltens, C, Flesch-Janys, D, Buck, K, Behrens, S, Peterlongo, P, Bernard, L, Manoukian, S, Radice, P, Couch, FJ, Vachon, C, Wang, X, Olson, J, Giles, G, Baglietto, L, McLean, CA, Severi, G, John, EM, Miron, A, Winqvist, R, Pylkas, K, Jukkola-Vuorinen, A, Grip, M, Andrulis, IL, Knight, JA, Mulligan, AM, Weerasooriya, N, Devilee, P, Tollenaar, RAEM, Martens, JWM, Seynaeve, CM, Hooning, MJ, Hollestelle, A, Jager, A, Tilanus-Linthorst, MMA, Hall, P, Czene, K, Liu, J, Li, J, Cox, A, Cross, SS, Brock, IW, Reed, MWR, Pharoah, P, Blows, FM, Dunning, AM, Ghous-saini, M, Ashworth, A, Swerdlow, A, Jones, M, Schoemaker, M, Easton, DF, Humphreys, M, Wang, Q, Peto, J, dos-Santos-Silva, I, Warren, H, Dudbridge, F, Fletcher, O, Orr, N, Johnson, N, Hopper, JL, Apicella, C, Southey, MC, Mahmoodi, M, Schmidt, MK, Broeks, A, Cornelissen, S, Braaf, LM, Muir, KR, Lophatananon, A, Chaiwerawattana, A, Wiangnon, S, Fasching, PA, Beckmann, MW, Ekici, AB, Schulz-Wendtland, R, Sawyer, EJ, Tomlinson, I, Kerin, M, Burwinkel, B, Marme, F, Schneeweiss, A, Sohn, C, Guenel, P, Therese, T, Laurent-Puig, P, Mulot, C, Bojesen, SE, Nielsen, SF, Flyger, H, Nordestgaard, BG, Milne, RL, Benitez, J, Arias-Perez, J-I, Pilar Zamora, M, Anton-Culver, H, Ziogas, A, Bernstein, L, Dur, CC, Brenner, H, Mueller, H, Arndt, V, Langheinz, A, Meindl, A, Golatta, M, Bartram, CR, Schmutzler, RK, Brauch, H, Justenhoven, C, Bruening, T, Chang-Claude, J, Wang-Gohrke, S, Eilber, U, Doerk, T, Schuermann, P, Bremer, M, Hillemanns, P, Nevanlinna, H, Muranen, TA, Aittomaki, K, Blomqvist, C, Bogdanova, N, Antonenkova, N, Rogov, Y, Bermisheva, M, Prokofyeva, D, Zinnatullina, G, Khusnutdinova, E, Lindblom, A, Margolin, S, Mannermaa, A, Kosma, V-M, Hartikainen, JM, Kataja, V, Chenevix-Trench, G, Beesley, J, Chen, X, Lambrechts, D, Smeets, A, Paridaens, R, Weltens, C, Flesch-Janys, D, Buck, K, Behrens, S, Peterlongo, P, Bernard, L, Manoukian, S, Radice, P, Couch, FJ, Vachon, C, Wang, X, Olson, J, Giles, G, Baglietto, L, McLean, CA, Severi, G, John, EM, Miron, A, Winqvist, R, Pylkas, K, Jukkola-Vuorinen, A, Grip, M, Andrulis, IL, Knight, JA, Mulligan, AM, Weerasooriya, N, Devilee, P, Tollenaar, RAEM, Martens, JWM, Seynaeve, CM, Hooning, MJ, Hollestelle, A, Jager, A, Tilanus-Linthorst, MMA, Hall, P, Czene, K, Liu, J, Li, J, Cox, A, Cross, SS, Brock, IW, Reed, MWR, Pharoah, P, Blows, FM, Dunning, AM, Ghous-saini, M, Ashworth, A, Swerdlow, A, Jones, M, Schoemaker, M, Easton, DF, Humphreys, M, Wang, Q, Peto, J, and dos-Santos-Silva, I
Abstract: BACKGROUND: Our recent genome-wide association study identified a novel breast cancer susceptibility locus at 9q31.2 (rs865686). METHODS: To further investigate the rs865686-breast cancer association, we conducted a replication study within the Breast Cancer Association Consortium, which comprises 37 case-control studies (48,394 cases, 50,836 controls). RESULTS: This replication study provides additional strong evidence of an inverse association between rs865686 and breast cancer risk [study-adjusted per G-allele OR, 0.90; 95% confidence interval (CI), 0.88; 0.91, P = 2.01 × 10(-29)] among women of European ancestry. There were ethnic differences in the estimated minor (G)-allele frequency among controls [0.09, 0.30, and 0.38 among, respectively, Asians, Eastern Europeans, and other Europeans; P for heterogeneity (P(het)) = 1.3 × 10(-143)], but no evidence of ethnic differences in per allele OR (P(het) = 0.43). rs865686 was associated with estrogen receptor-positive (ER(+)) disease (per G-allele OR, 0.89; 95% CI, 0.86-0.91; P = 3.13 × 10(-22)) but less strongly, if at all, with ER-negative (ER(-)) disease (OR, 0.98; 95% CI, 0.94-1.02; P = 0.26; P(het) = 1.16 × 10(-6)), with no evidence of independent heterogeneity by progesterone receptor or HER2 status. The strength of the breast cancer association decreased with increasing age at diagnosis, with case-only analysis showing a trend in the number of copies of the G allele with increasing age at diagnosis (P for linear trend = 0.0095), but only among women with ER(+) tumors. CONCLUSIONS: This study is the first to show that rs865686 is a susceptibility marker for ER(+) breast cancer. IMPACT: The findings further support the view that genetic susceptibility varies according to tumor subtype.
Published: 2012

49. Independent and joint effects of the MAPT and SNCA genes in Parkinson disease

Author: Elbaz, A, Ross, Oa, Ioannidis, Jp, Soto Ortolaza, Ai, Aasly, J, Bozi, M, Chartier Harlin, Mc, Destée, A, Ferrarese, C, Ferraris, A, Gibson, Jm, Hadjigeorgiou, Gm, Jasinska Myga, B, Klein C, Krüger R, Lohmann, K, Loriot, Ma, Mellick, Gd, Mutez, E, Nilsson, C, Puschmann, A, Quattrone, A, Sharma, M, Silburn, Pa, Stefanis, L, Valente, Em, Vilariño Güell, C, Wirdefeldt, K, Wszolek, Zk, Xiromerisiou, G, Farrer, Mj, Amouyel, P, Tzourio, C, Mulot, C, Bacon, Ja, Cobb, Sa, Sutherland, Gt, Siebert, Ga, Dissanayaka, N, O'Sullivan, Jd, Boyle, R, Bordet, R, Legendre, Jp, Auburger, G, Abahuni, N, Winkler, S, Gasser, T, Riess, O, Berg, D, Schulte, C, Vassilatis, D, Stamboulis, E, Dardiotis, E, Patramani, I, Kountra, Pm, Vogiatzi, C, Markou, K, Tarantino, P, Annesi, F, Bentivoglio, Anna Rita, Guidubaldi, Arianna, Caccialupi, M, De Nigris, Francesca, Pedersen, Nl, Reimer, J, Lash, J, Searcy, J, Strongosky, A., Bentivoglio, Anna Rita (ORCID:0000-0002-9663-095X), Elbaz, A, Ross, Oa, Ioannidis, Jp, Soto Ortolaza, Ai, Aasly, J, Bozi, M, Chartier Harlin, Mc, Destée, A, Ferrarese, C, Ferraris, A, Gibson, Jm, Hadjigeorgiou, Gm, Jasinska Myga, B, Klein C, Krüger R, Lohmann, K, Loriot, Ma, Mellick, Gd, Mutez, E, Nilsson, C, Puschmann, A, Quattrone, A, Sharma, M, Silburn, Pa, Stefanis, L, Valente, Em, Vilariño Güell, C, Wirdefeldt, K, Wszolek, Zk, Xiromerisiou, G, Farrer, Mj, Amouyel, P, Tzourio, C, Mulot, C, Bacon, Ja, Cobb, Sa, Sutherland, Gt, Siebert, Ga, Dissanayaka, N, O'Sullivan, Jd, Boyle, R, Bordet, R, Legendre, Jp, Auburger, G, Abahuni, N, Winkler, S, Gasser, T, Riess, O, Berg, D, Schulte, C, Vassilatis, D, Stamboulis, E, Dardiotis, E, Patramani, I, Kountra, Pm, Vogiatzi, C, Markou, K, Tarantino, P, Annesi, F, Bentivoglio, Anna Rita, Guidubaldi, Arianna, Caccialupi, M, De Nigris, Francesca, Pedersen, Nl, Reimer, J, Lash, J, Searcy, J, Strongosky, A., and Bentivoglio, Anna Rita (ORCID:0000-0002-9663-095X)
Abstract: OBJECTIVE: We studied the independent and joint effects of the genes encoding alpha-synuclein (SNCA) and microtubule-associated protein tau (MAPT) in Parkinson disease (PD) as part of a large meta-analysis of individual data from case-control studies participating in the Genetic Epidemiology of Parkinson's Disease (GEO-PD) consortium. METHODS: Participants of Caucasian ancestry were genotyped for a total of 4 SNCA (rs2583988, rs181489, rs356219, rs11931074) and 2 MAPT (rs1052553, rs242557) single nucleotide polymorphism (SNPs). Individual and joint effects of SNCA and MAPT SNPs were investigated using fixed- and random-effects logistic regression models. Interactions were studied on both a multiplicative and an additive scale, and using a case-control and case-only approach. RESULTS: Fifteen GEO-PD sites contributed a total of 5,302 cases and 4,161 controls. All 4 SNCA SNPs and the MAPT H1-haplotype-defining SNP (rs1052553) displayed a highly significant marginal association with PD at the significance level adjusted for multiple comparisons. For SNCA, the strongest associations were observed for SNPs located at the 3' end of the gene. There was no evidence of statistical interaction between any of the 4 SNCA SNPs and rs1052553 or rs242557, neither on the multiplicative nor on the additive scale. INTERPRETATION: This study confirms the association between PD and both SNCA SNPs and the H1 MAPT haplotype. It shows, based on a variety of approaches, that the joint action of variants in these 2 loci is consistent with independent effects of the genes without additional interacting effects.
Published: 2011

50. 461O - Adjuvant FOLFOX+ cetuximab vs FOLFOX in full RAS and BRAF wild type stage III colon cancer patients: Results from the PETACC8 trial

Author: Taieb, J., Le Malicot, K., Balogoum, R., Tabernero, J., Mini, E., Folprecht, G., van Laethem, J.-L., Emile, J.-F., Mulot, C., Fratté, S., Levaché, C.-B., Saban-Roche, L., Thaler, J., Petersen, L. Nørgård, Sanchez, E., Bridgewater, J., Perkins, G., Lepage, C., Zaanan, A., and Laurent-Puig, P.
Published: 2016
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