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201. RAD51B in Familial Breast Cancer

Author

Brusgaard, K, Pelttari, LM, Khan, S, Vuorela, M, Kiiski, JI, Vilske, S, Nevanlinna, V, Ranta, S, Schleutker, J, Winqvist, R, Kallioniemi, A, Doerk, T, Bogdanova, NV, Figueroa, J, Pharoah, PDP, Schmidt, MK, Dunning, AM, Garcia-Closas, M, Bolla, MK, Dennis, J, Michailidou, K, Wang, Q, Hopper, JL, Southey, MC, Rosenberg, EH, Fasching, PA, Beckmann, MW, Peto, J, dos-Santos-Silva, I, Sawyer, EJ, Tomlinson, I, Burwinkel, B, Surowy, H, Guenel, P, Truong, T, Bojesen, SE, Nordestgaard, BG, Benitez, J, Gonzalez-Neira, A, Neuhausen, SL, Anton-Culver, H, Brenner, H, Arndt, V, Meindl, A, Schmutzler, RK, Brauch, H, Bruening, T, Lindblom, A, Margolin, S, Mannermaa, A, Hartikainen, JM, Chenevix-Trench, G, Van Dyck, L, Janssen, H, Chang-Claude, J, Rudolph, A, Radice, P, Peterlongo, P, Hallberg, E, Olson, JE, Giles, GG, Milne, RL, Haiman, CA, Schumacher, F, Simard, J, Dumont, M, Kristensen, V, Borresen-Dale, A-L, Zheng, W, Beeghly-Fadiel, A, Grip, M, Andrulis, IL, Glendon, G, Devilee, P, Seynaeve, C, Hooning, MJ, Collee, M, Cox, A, Cross, SS, Shah, M, Luben, RN, Hamann, U, Torres, D, Jakubowska, A, Lubinski, J, Couch, FJ, Yannoukakos, D, Orr, N, Swerdlow, A, Darabi, H, Li, J, Czene, K, Hall, P, Easton, DF, Mattson, J, Blomqvist, C, Aittomaki, K, Nevanlinna, H, Brusgaard, K, Pelttari, LM, Khan, S, Vuorela, M, Kiiski, JI, Vilske, S, Nevanlinna, V, Ranta, S, Schleutker, J, Winqvist, R, Kallioniemi, A, Doerk, T, Bogdanova, NV, Figueroa, J, Pharoah, PDP, Schmidt, MK, Dunning, AM, Garcia-Closas, M, Bolla, MK, Dennis, J, Michailidou, K, Wang, Q, Hopper, JL, Southey, MC, Rosenberg, EH, Fasching, PA, Beckmann, MW, Peto, J, dos-Santos-Silva, I, Sawyer, EJ, Tomlinson, I, Burwinkel, B, Surowy, H, Guenel, P, Truong, T, Bojesen, SE, Nordestgaard, BG, Benitez, J, Gonzalez-Neira, A, Neuhausen, SL, Anton-Culver, H, Brenner, H, Arndt, V, Meindl, A, Schmutzler, RK, Brauch, H, Bruening, T, Lindblom, A, Margolin, S, Mannermaa, A, Hartikainen, JM, Chenevix-Trench, G, Van Dyck, L, Janssen, H, Chang-Claude, J, Rudolph, A, Radice, P, Peterlongo, P, Hallberg, E, Olson, JE, Giles, GG, Milne, RL, Haiman, CA, Schumacher, F, Simard, J, Dumont, M, Kristensen, V, Borresen-Dale, A-L, Zheng, W, Beeghly-Fadiel, A, Grip, M, Andrulis, IL, Glendon, G, Devilee, P, Seynaeve, C, Hooning, MJ, Collee, M, Cox, A, Cross, SS, Shah, M, Luben, RN, Hamann, U, Torres, D, Jakubowska, A, Lubinski, J, Couch, FJ, Yannoukakos, D, Orr, N, Swerdlow, A, Darabi, H, Li, J, Czene, K, Hall, P, Easton, DF, Mattson, J, Blomqvist, C, Aittomaki, K, and Nevanlinna, H

Abstract

Common variation on 14q24.1, close to RAD51B, has been associated with breast cancer: rs999737 and rs2588809 with the risk of female breast cancer and rs1314913 with the risk of male breast cancer. The aim of this study was to investigate the role of RAD51B variants in breast cancer predisposition, particularly in the context of familial breast cancer in Finland. We sequenced the coding region of RAD51B in 168 Finnish breast cancer patients from the Helsinki region for identification of possible recurrent founder mutations. In addition, we studied the known rs999737, rs2588809, and rs1314913 SNPs and RAD51B haplotypes in 44,791 breast cancer cases and 43,583 controls from 40 studies participating in the Breast Cancer Association Consortium (BCAC) that were genotyped on a custom chip (iCOGS). We identified one putatively pathogenic missense mutation c.541C>T among the Finnish cancer patients and subsequently genotyped the mutation in additional breast cancer cases (n = 5259) and population controls (n = 3586) from Finland and Belarus. No significant association with breast cancer risk was seen in the meta-analysis of the Finnish datasets or in the large BCAC dataset. The association with previously identified risk variants rs999737, rs2588809, and rs1314913 was replicated among all breast cancer cases and also among familial cases in the BCAC dataset. The most significant association was observed for the haplotype carrying the risk-alleles of all the three SNPs both among all cases (odds ratio (OR): 1.15, 95% confidence interval (CI): 1.11-1.19, P = 8.88 x 10-16) and among familial cases (OR: 1.24, 95% CI: 1.16-1.32, P = 6.19 x 10-11), compared to the haplotype with the respective protective alleles. Our results suggest that loss-of-function mutations in RAD51B are rare, but common variation at the RAD51B region is significantly associated with familial breast cancer risk.

Published
2016

202. Fine scale mapping of the 17q22 breast cancer locus using dense SNPs, genotyped within the Collaborative Oncological Gene-Environment Study (COGs)

Author

Darabi, H, Beesley, J, Droit, A, Kar, S, Nord, S, Marjaneh, MM, Soucy, P, Michailidou, K, Ghoussaini, M, Wahl, HF, Bolla, MK, Wang, Q, Dennis, J, Alonso, MR, Andrulis, IL, Anton-Culver, H, Arndt, V, Beckmann, MW, Benitez, J, Bogdanova, NV, Bojesen, SE, Brauch, H, Brenner, H, Broeks, A, Bruening, T, Burwinkel, B, Chang-Claude, J, Choi, J-Y, Conroy, DM, Couch, FJ, Cox, A, Cross, SS, Czene, K, Devilee, P, Doerk, T, Easton, DF, Fasching, PA, Figueroa, J, Fletcher, O, Flyger, H, Galle, E, Garcia-Closas, M, Giles, GG, Goldberg, MS, Gonzalez-Neira, A, Guenel, P, Haiman, CA, Hallberg, E, Hamann, U, Hartman, M, Hollestelle, A, Hopper, JL, Ito, H, Jakubowska, A, Johnson, N, Kang, D, Khan, S, Kosma, V-M, Kriege, M, Kristensen, V, Lambrechts, D, Le Marchand, L, Lee, SC, Lindblom, A, Lophatananon, A, Lubinski, J, Mannermaa, A, Manoukian, S, Margolin, S, Matsuo, K, Mayes, R, Mckay, J, Meindl, A, Milne, RL, Muir, K, Neuhausen, SL, Nevanlinna, H, Olswold, C, Orr, N, Peterlongo, P, Pita, G, Pylkaes, K, Rudolph, A, Sangrajrang, S, Sawyer, EJ, Schmidt, MK, Schmutzler, RK, Seynaeve, C, Shah, M, Shen, C-Y, Shu, X-O, Southey, MC, Stram, DO, Surowy, H, Swerdlow, A, Teo, SH, Tessier, DC, Tomlinson, I, Torres, D, Truong, T, Vachon, CM, Vincent, D, Winqvist, R, Wu, AH, Wu, P-E, Yip, CH, Zheng, W, Pharoah, PDP, Hall, P, Edwards, SL, Simard, J, French, JD, Chenevix-Trench, G, Dunning, AM, Darabi, H, Beesley, J, Droit, A, Kar, S, Nord, S, Marjaneh, MM, Soucy, P, Michailidou, K, Ghoussaini, M, Wahl, HF, Bolla, MK, Wang, Q, Dennis, J, Alonso, MR, Andrulis, IL, Anton-Culver, H, Arndt, V, Beckmann, MW, Benitez, J, Bogdanova, NV, Bojesen, SE, Brauch, H, Brenner, H, Broeks, A, Bruening, T, Burwinkel, B, Chang-Claude, J, Choi, J-Y, Conroy, DM, Couch, FJ, Cox, A, Cross, SS, Czene, K, Devilee, P, Doerk, T, Easton, DF, Fasching, PA, Figueroa, J, Fletcher, O, Flyger, H, Galle, E, Garcia-Closas, M, Giles, GG, Goldberg, MS, Gonzalez-Neira, A, Guenel, P, Haiman, CA, Hallberg, E, Hamann, U, Hartman, M, Hollestelle, A, Hopper, JL, Ito, H, Jakubowska, A, Johnson, N, Kang, D, Khan, S, Kosma, V-M, Kriege, M, Kristensen, V, Lambrechts, D, Le Marchand, L, Lee, SC, Lindblom, A, Lophatananon, A, Lubinski, J, Mannermaa, A, Manoukian, S, Margolin, S, Matsuo, K, Mayes, R, Mckay, J, Meindl, A, Milne, RL, Muir, K, Neuhausen, SL, Nevanlinna, H, Olswold, C, Orr, N, Peterlongo, P, Pita, G, Pylkaes, K, Rudolph, A, Sangrajrang, S, Sawyer, EJ, Schmidt, MK, Schmutzler, RK, Seynaeve, C, Shah, M, Shen, C-Y, Shu, X-O, Southey, MC, Stram, DO, Surowy, H, Swerdlow, A, Teo, SH, Tessier, DC, Tomlinson, I, Torres, D, Truong, T, Vachon, CM, Vincent, D, Winqvist, R, Wu, AH, Wu, P-E, Yip, CH, Zheng, W, Pharoah, PDP, Hall, P, Edwards, SL, Simard, J, French, JD, Chenevix-Trench, G, and Dunning, AM

Abstract

Genome-wide association studies have found SNPs at 17q22 to be associated with breast cancer risk. To identify potential causal variants related to breast cancer risk, we performed a high resolution fine-mapping analysis that involved genotyping 517 SNPs using a custom Illumina iSelect array (iCOGS) followed by imputation of genotypes for 3,134 SNPs in more than 89,000 participants of European ancestry from the Breast Cancer Association Consortium (BCAC). We identified 28 highly correlated common variants, in a 53 Kb region spanning two introns of the STXBP4 gene, that are strong candidates for driving breast cancer risk (lead SNP rs2787486 (OR = 0.92; CI 0.90-0.94; P = 8.96 × 10(-15))) and are correlated with two previously reported risk-associated variants at this locus, SNPs rs6504950 (OR = 0.94, P = 2.04 × 10(-09), r(2) = 0.73 with lead SNP) and rs1156287 (OR = 0.93, P = 3.41 × 10(-11), r(2) = 0.83 with lead SNP). Analyses indicate only one causal SNP in the region and several enhancer elements targeting STXBP4 are located within the 53 kb association signal. Expression studies in breast tumor tissues found SNP rs2787486 to be associated with increased STXBP4 expression, suggesting this may be a target gene of this locus.

Published
2016

203. Fine-scale mapping of 8q24 locus identifies multiple independent risk variants for breast cancer

Author

Shi, J, Zhang, Y, Zheng, W, Michailidou, K, Ghoussaini, M, Bolla, MK, Wang, Q, Dennis, J, Lush, M, Milne, RL, Shu, X-O, Beesley, J, Kar, S, Andrulis, IL, Anton-Culver, H, Arndt, V, Beckmann, MW, Zhao, Z, Guo, X, Benitez, J, Beeghly-Fadiel, A, Blot, W, Bogdanova, NV, Bojesen, SE, Brauch, H, Brenner, H, Brinton, L, Broeks, A, Bruening, T, Burwinkel, B, Cai, H, Canisius, S, Chang-Claude, J, Choi, J-Y, Couch, FJ, Cox, A, Cross, SS, Czene, K, Darabi, H, Devilee, P, Droit, A, Dork, T, Fasching, PA, Fletcher, O, Flyger, H, Fostira, F, Gaborieau, V, Garcia-Closas, M, Giles, GG, Grip, M, Guenel, P, Haiman, CA, Hamann, U, Hartman, M, Miao, H, Hollestelle, A, Hopper, JL, Hsiung, C-N, Investigators, K, Ito, H, Jakubowska, A, Johnson, N, Torres, D, Kabisch, M, Kang, D, Khan, S, Knight, JA, Kosma, V-M, Lambrechts, D, Li, J, Lindblom, A, Lophatananon, A, Lubinski, J, Mannermaa, A, Manoukian, S, Le Marchand, L, Margolin, S, Marme, F, Matsuo, K, McLean, C, Meindl, A, Muir, K, Neuhausen, SL, Nevanlinna, H, Nord, S, Borresen-Dale, A-L, Olson, JE, Orr, N, van den Ouweland, AMW, Peterlongo, P, Putti, TC, Rudolph, A, Sangrajrang, S, Sawyer, EJ, Schmidt, MK, Schmutzler, RK, Shen, C-Y, Hou, M-F, Shrubsole, MJ, Southey, MC, Swerdlow, A, Teo, SH, Thienpont, B, Toland, AE, Tollenaar, RAEM, Tomlinson, I, Truong, T, Tseng, C-C, Wen, W, Winqvist, R, Wu, AH, Yip, CH, Zamora, PM, Zheng, Y, Floris, G, Cheng, C-Y, Hooning, MJ, Martens, JWM, Seynaeve, C, Kristensen, VN, Hall, P, Pharoah, PDP, Simard, J, Chenevix-Trench, G, Dunning, AM, Antoniou, AC, Easton, DF, Cai, Q, Long, J, Shi, J, Zhang, Y, Zheng, W, Michailidou, K, Ghoussaini, M, Bolla, MK, Wang, Q, Dennis, J, Lush, M, Milne, RL, Shu, X-O, Beesley, J, Kar, S, Andrulis, IL, Anton-Culver, H, Arndt, V, Beckmann, MW, Zhao, Z, Guo, X, Benitez, J, Beeghly-Fadiel, A, Blot, W, Bogdanova, NV, Bojesen, SE, Brauch, H, Brenner, H, Brinton, L, Broeks, A, Bruening, T, Burwinkel, B, Cai, H, Canisius, S, Chang-Claude, J, Choi, J-Y, Couch, FJ, Cox, A, Cross, SS, Czene, K, Darabi, H, Devilee, P, Droit, A, Dork, T, Fasching, PA, Fletcher, O, Flyger, H, Fostira, F, Gaborieau, V, Garcia-Closas, M, Giles, GG, Grip, M, Guenel, P, Haiman, CA, Hamann, U, Hartman, M, Miao, H, Hollestelle, A, Hopper, JL, Hsiung, C-N, Investigators, K, Ito, H, Jakubowska, A, Johnson, N, Torres, D, Kabisch, M, Kang, D, Khan, S, Knight, JA, Kosma, V-M, Lambrechts, D, Li, J, Lindblom, A, Lophatananon, A, Lubinski, J, Mannermaa, A, Manoukian, S, Le Marchand, L, Margolin, S, Marme, F, Matsuo, K, McLean, C, Meindl, A, Muir, K, Neuhausen, SL, Nevanlinna, H, Nord, S, Borresen-Dale, A-L, Olson, JE, Orr, N, van den Ouweland, AMW, Peterlongo, P, Putti, TC, Rudolph, A, Sangrajrang, S, Sawyer, EJ, Schmidt, MK, Schmutzler, RK, Shen, C-Y, Hou, M-F, Shrubsole, MJ, Southey, MC, Swerdlow, A, Teo, SH, Thienpont, B, Toland, AE, Tollenaar, RAEM, Tomlinson, I, Truong, T, Tseng, C-C, Wen, W, Winqvist, R, Wu, AH, Yip, CH, Zamora, PM, Zheng, Y, Floris, G, Cheng, C-Y, Hooning, MJ, Martens, JWM, Seynaeve, C, Kristensen, VN, Hall, P, Pharoah, PDP, Simard, J, Chenevix-Trench, G, Dunning, AM, Antoniou, AC, Easton, DF, Cai, Q, and Long, J

Abstract

Previous genome-wide association studies among women of European ancestry identified two independent breast cancer susceptibility loci represented by single nucleotide polymorphisms (SNPs) rs13281615 and rs11780156 at 8q24. A fine-mapping study across 2.06 Mb (chr8:127,561,724-129,624,067, hg19) in 55,540 breast cancer cases and 51,168 controls within the Breast Cancer Association Consortium was conducted. Three additional independent association signals in women of European ancestry, represented by rs35961416 (OR = 0.95, 95% CI = 0.93-0.97, conditional p = 5.8 × 10(-6) ), rs7815245 (OR = 0.94, 95% CI = 0.91-0.96, conditional p = 1.1 × 10(-6) ) and rs2033101 (OR = 1.05, 95% CI = 1.02-1.07, conditional p = 1.1 × 10(-4) ) were found. Integrative analysis using functional genomic data from the Roadmap Epigenomics, the Encyclopedia of DNA Elements project, the Cancer Genome Atlas and other public resources implied that SNPs rs7815245 in Signal 3, and rs1121948 in Signal 5 (in linkage disequilibrium with rs11780156, r(2) = 0.77), were putatively functional variants for two of the five independent association signals. The results highlighted multiple 8q24 variants associated with breast cancer susceptibility in women of European ancestry.

Published
2016

204. Genetically Predicted Body Mass Index and Breast Cancer Risk: Mendelian Randomization Analyses of Data from 145,000 Women of European Descent

Author

Beck, AH, Guo, Y, Andersen, SW, Shu, X-O, Michailidou, K, Bolla, MK, Wang, Q, Garcia-Closas, M, Milne, RL, Schmidt, MK, Chang-Claude, J, Dunning, A, Bojesen, SE, Ahsan, H, Aittomaki, K, Andrulis, IL, Anton-Culver, H, Arndt, V, Beckmann, MW, Beeghly-Fadiel, A, Benitez, J, Bogdanova, NV, Bonanni, B, Borresen-Dale, A-L, Brand, J, Brauch, H, Brenner, H, Bruening, T, Burwinkel, B, Casey, G, Chenevix-Trench, G, Couch, FJ, Cox, A, Cross, SS, Czene, K, Devilee, P, Doerk, T, Dumont, M, Fasching, PA, Figueroa, J, Flesch-Janys, D, Fletcher, O, Flyger, H, Fostira, F, Gammon, M, Giles, GG, Guenel, P, Haiman, CA, Hamann, U, Hooning, MJ, Hopper, JL, Jakubowska, A, Jasmine, F, Jenkins, M, John, EM, Johnson, N, Jones, ME, Kabisch, M, Kibriya, M, Knight, JA, Koppert, LB, Kosma, V-M, Kristensen, V, Le Marchand, L, Lee, E, Li, J, Lindblom, A, Luben, R, Lubinski, J, Malone, KE, Mannermaa, A, Margolin, S, Marme, F, McLean, C, Meijers-Heijboer, H, Meindl, A, Neuhausen, SL, Nevanlinna, H, Neven, P, Olson, JE, Perez, JIA, Perkins, B, Peterlongo, P, Phillips, K-A, Pylkas, K, Rudolph, A, Santella, R, Sawyer, EJ, Schmutzler, RK, Seynaeve, C, Shah, M, Shrubsole, MJ, Southey, MC, Swerdlow, AJ, Toland, AE, Tomlinson, I, Torres, D, Truong, T, Ursin, G, Van Der Luijt, RB, Verhoef, S, Whittemore, AS, Winqvist, R, Zhao, H, Zhao, S, Hall, P, Simard, J, Kraft, P, Pharoah, P, Hunter, D, Easton, DF, Zheng, W, Beck, AH, Guo, Y, Andersen, SW, Shu, X-O, Michailidou, K, Bolla, MK, Wang, Q, Garcia-Closas, M, Milne, RL, Schmidt, MK, Chang-Claude, J, Dunning, A, Bojesen, SE, Ahsan, H, Aittomaki, K, Andrulis, IL, Anton-Culver, H, Arndt, V, Beckmann, MW, Beeghly-Fadiel, A, Benitez, J, Bogdanova, NV, Bonanni, B, Borresen-Dale, A-L, Brand, J, Brauch, H, Brenner, H, Bruening, T, Burwinkel, B, Casey, G, Chenevix-Trench, G, Couch, FJ, Cox, A, Cross, SS, Czene, K, Devilee, P, Doerk, T, Dumont, M, Fasching, PA, Figueroa, J, Flesch-Janys, D, Fletcher, O, Flyger, H, Fostira, F, Gammon, M, Giles, GG, Guenel, P, Haiman, CA, Hamann, U, Hooning, MJ, Hopper, JL, Jakubowska, A, Jasmine, F, Jenkins, M, John, EM, Johnson, N, Jones, ME, Kabisch, M, Kibriya, M, Knight, JA, Koppert, LB, Kosma, V-M, Kristensen, V, Le Marchand, L, Lee, E, Li, J, Lindblom, A, Luben, R, Lubinski, J, Malone, KE, Mannermaa, A, Margolin, S, Marme, F, McLean, C, Meijers-Heijboer, H, Meindl, A, Neuhausen, SL, Nevanlinna, H, Neven, P, Olson, JE, Perez, JIA, Perkins, B, Peterlongo, P, Phillips, K-A, Pylkas, K, Rudolph, A, Santella, R, Sawyer, EJ, Schmutzler, RK, Seynaeve, C, Shah, M, Shrubsole, MJ, Southey, MC, Swerdlow, AJ, Toland, AE, Tomlinson, I, Torres, D, Truong, T, Ursin, G, Van Der Luijt, RB, Verhoef, S, Whittemore, AS, Winqvist, R, Zhao, H, Zhao, S, Hall, P, Simard, J, Kraft, P, Pharoah, P, Hunter, D, Easton, DF, and Zheng, W

Abstract

BACKGROUND: Observational epidemiological studies have shown that high body mass index (BMI) is associated with a reduced risk of breast cancer in premenopausal women but an increased risk in postmenopausal women. It is unclear whether this association is mediated through shared genetic or environmental factors. METHODS: We applied Mendelian randomization to evaluate the association between BMI and risk of breast cancer occurrence using data from two large breast cancer consortia. We created a weighted BMI genetic score comprising 84 BMI-associated genetic variants to predicted BMI. We evaluated genetically predicted BMI in association with breast cancer risk using individual-level data from the Breast Cancer Association Consortium (BCAC) (cases = 46,325, controls = 42,482). We further evaluated the association between genetically predicted BMI and breast cancer risk using summary statistics from 16,003 cases and 41,335 controls from the Discovery, Biology, and Risk of Inherited Variants in Breast Cancer (DRIVE) Project. Because most studies measured BMI after cancer diagnosis, we could not conduct a parallel analysis to adequately evaluate the association of measured BMI with breast cancer risk prospectively. RESULTS: In the BCAC data, genetically predicted BMI was found to be inversely associated with breast cancer risk (odds ratio [OR] = 0.65 per 5 kg/m2 increase, 95% confidence interval [CI]: 0.56-0.75, p = 3.32 × 10-10). The associations were similar for both premenopausal (OR = 0.44, 95% CI:0.31-0.62, p = 9.91 × 10-8) and postmenopausal breast cancer (OR = 0.57, 95% CI: 0.46-0.71, p = 1.88 × 10-8). This association was replicated in the data from the DRIVE consortium (OR = 0.72, 95% CI: 0.60-0.84, p = 1.64 × 10-7). Single marker analyses identified 17 of the 84 BMI-associated single nucleotide polymorphisms (SNPs) in association with breast cancer risk at p < 0.05; for 16 of them, the allele associated with elevated BMI was associated wit

Published
2016

205. Fine-Mapping of the 1p11.2 Breast Cancer Susceptibility Locus

Author

Horne, H N, Chung, C C, Zhang, H, Yu, Carol, Prokunina-Olsson, L, Michailidou, K, Bolla, MK, Wang, Q, Dennis, J, Hopper, JL, Southey, MC, Schmidt, MK (Marjanka), Broeks, A, Muir, K, Lophatananon, A, Fasching, PA, Beckmann, MW, Fletcher, O, Johnson, N, Sawyer, EJ, Tomlinson, I, Burwinkel, B, Marme, F, Guenel, P, Truong, T, Bojesen, SE, Flyger, H, Benitez, J, Gonzalez-Neira, A, Anton-Culver, H, Neuhausen, SL, Brenner, H, Arndt, V, Meindl, A, Schmutzler, RK, Brauch, H, Hamann, U, Nevanlinna, H, Khan, Salima, Matsuo, K, Iwata, H, Dork, T, Bogdanova, NV, Lindblom, A, Margolin, S, Mannermaa, A, Kosma, VM, Chenevix-Trench, G, Wu, AH, den Berg, D V, Smeets, A, Zhao, H, Chang-Claude, J, Rudolph, A, Radice, P, Barile, M, Couch, FJ, Vachon, C, Giles, GG, Milne, RL, Haiman, CA, Le Marchand, L, Goldberg, MS, Teo, SH, Taib, NAM, Kristensen, V, Borresen-Dale, AL, Zheng, W, Shrubsole, M, Winqvist, R, Jukkola-Vuorinen, A, Andrulis, IL, Knight, JA, Devilee, P, Seynaeve, Caroline, Garcia-Closas, M, Czene, K, Darabi, H, Hollestelle, Antoinette, Martens, John, Li, JM, Lu, W, Shu, XO, Cox, A, Cross, SS, Blot, W, Cai, QY, Shah, M, Luccarini, C, Baynes, C, Harrington, P, Kang, D, Choi, JY, Hartman, M, Chia, KS, Kabisch, M, Torres, D, Jakubowska, A, Lubinski, J, Sangrajrang, S, Brennan, P, Slager, S, Yannoukakos, D, Shen, CY, Hou, MF, Swerdlow, A, Orr, N, Simard, J, Hall, P, Pharoah, PDP, Easton, DF, Chanock, SJ, Dunning, AM, Figueroa, JD, Horne, H N, Chung, C C, Zhang, H, Yu, Carol, Prokunina-Olsson, L, Michailidou, K, Bolla, MK, Wang, Q, Dennis, J, Hopper, JL, Southey, MC, Schmidt, MK (Marjanka), Broeks, A, Muir, K, Lophatananon, A, Fasching, PA, Beckmann, MW, Fletcher, O, Johnson, N, Sawyer, EJ, Tomlinson, I, Burwinkel, B, Marme, F, Guenel, P, Truong, T, Bojesen, SE, Flyger, H, Benitez, J, Gonzalez-Neira, A, Anton-Culver, H, Neuhausen, SL, Brenner, H, Arndt, V, Meindl, A, Schmutzler, RK, Brauch, H, Hamann, U, Nevanlinna, H, Khan, Salima, Matsuo, K, Iwata, H, Dork, T, Bogdanova, NV, Lindblom, A, Margolin, S, Mannermaa, A, Kosma, VM, Chenevix-Trench, G, Wu, AH, den Berg, D V, Smeets, A, Zhao, H, Chang-Claude, J, Rudolph, A, Radice, P, Barile, M, Couch, FJ, Vachon, C, Giles, GG, Milne, RL, Haiman, CA, Le Marchand, L, Goldberg, MS, Teo, SH, Taib, NAM, Kristensen, V, Borresen-Dale, AL, Zheng, W, Shrubsole, M, Winqvist, R, Jukkola-Vuorinen, A, Andrulis, IL, Knight, JA, Devilee, P, Seynaeve, Caroline, Garcia-Closas, M, Czene, K, Darabi, H, Hollestelle, Antoinette, Martens, John, Li, JM, Lu, W, Shu, XO, Cox, A, Cross, SS, Blot, W, Cai, QY, Shah, M, Luccarini, C, Baynes, C, Harrington, P, Kang, D, Choi, JY, Hartman, M, Chia, KS, Kabisch, M, Torres, D, Jakubowska, A, Lubinski, J, Sangrajrang, S, Brennan, P, Slager, S, Yannoukakos, D, Shen, CY, Hou, MF, Swerdlow, A, Orr, N, Simard, J, Hall, P, Pharoah, PDP, Easton, DF, Chanock, SJ, Dunning, AM, and Figueroa, JD

Published
2016

206. Evidence that the 5p12 Variant rs10941679 Confers Susceptibility to Estrogen-Receptor-Positive Breast Cancer through FGF10 and MRPS30 Regulation

Author

Ghoussaini, M, French, JD, Michailidou, K, Nord, S, Beesley, J, Canisus, S, Hillman, KM, Kaufmann, S, Sivakumaran, H, Marjaneh, M M, Lee, JS, Dennis, J, Bolla, MK, Wang, Q, Dicks, E, Milne, RL, Hopper, JL, Southey, MC, Schmidt, MK (Marjanka), Broeks, A, Muir, K, Lophatananon, A, Fasching, PA, Beckmann, MW, Fletcher, O, Johnson, N, Sawyer, EJ, Tomlinson, I, Burwinkel, B, Marme, F, Guenel, P, Truong, T, Bojesen, SE, Flyger, H, Benitez, J, Gonzalez-Neira, A, Alonso, R, Pita, G, Neuhausen, SL, Anton-Culver, H, Brenner, H, Arndt, V, Meindl, A, Schmutzler, RK, Brauch, H, Hamann, U, Tessier, DC, Vincent, D, Nevanlinna, H, Khan, Salima, Matsuo, K, Ito, H, Dork, T, Bogdanova, NV, Lindblom, A, Margolin, S, Mannermaa, A, Kosma, VM, Wu, AH, van den Berg, D, Lambrechts, D, Floris, G, Chang-Claude, J, Rudolph, A, Radice, P, Barile, M, Couch, FJ, Hallberg, E, Giles, GG, Haiman, CA, Le Marchand, L, Goldberg, MS, Teo, SH, Yip, CH, Borresen-Dale, AL, Zheng, W, Cai, QY, Winqvist, R, Pylkas, K, Andrulis, IL, Devilee, P, Tollenaar, RAEM, Garcia-Closas, M, Figueroa, J, Hall, P, Czene, K, Brand, JS, Darabi, H, Eriksson, M, Hooning, Maartje, Koppert, Linetta, Li, JM, Shu, XO, Zheng, Y, Cox, A, Cross, SS, Shah, M, Rhenius, V, Choi, JY, Kang, D, Hartman, M, Chia, KS, Kabisch, M, Torres, D, Luccarini, C, Conroy, D M, Jakubowska, A, Lubinski, J, Sangrajrang, S, Brennan, P, Olswold, C, Slager, S, Shen, CY, Hou, MF, Swerdlow, A, Schoemaker, MJ, Simard, J, Pharoah, PDP, Kristensen, V, Chenevix-Trench, G, Easton, DF, Dunning, AM, Edwards, SL, Ghoussaini, M, French, JD, Michailidou, K, Nord, S, Beesley, J, Canisus, S, Hillman, KM, Kaufmann, S, Sivakumaran, H, Marjaneh, M M, Lee, JS, Dennis, J, Bolla, MK, Wang, Q, Dicks, E, Milne, RL, Hopper, JL, Southey, MC, Schmidt, MK (Marjanka), Broeks, A, Muir, K, Lophatananon, A, Fasching, PA, Beckmann, MW, Fletcher, O, Johnson, N, Sawyer, EJ, Tomlinson, I, Burwinkel, B, Marme, F, Guenel, P, Truong, T, Bojesen, SE, Flyger, H, Benitez, J, Gonzalez-Neira, A, Alonso, R, Pita, G, Neuhausen, SL, Anton-Culver, H, Brenner, H, Arndt, V, Meindl, A, Schmutzler, RK, Brauch, H, Hamann, U, Tessier, DC, Vincent, D, Nevanlinna, H, Khan, Salima, Matsuo, K, Ito, H, Dork, T, Bogdanova, NV, Lindblom, A, Margolin, S, Mannermaa, A, Kosma, VM, Wu, AH, van den Berg, D, Lambrechts, D, Floris, G, Chang-Claude, J, Rudolph, A, Radice, P, Barile, M, Couch, FJ, Hallberg, E, Giles, GG, Haiman, CA, Le Marchand, L, Goldberg, MS, Teo, SH, Yip, CH, Borresen-Dale, AL, Zheng, W, Cai, QY, Winqvist, R, Pylkas, K, Andrulis, IL, Devilee, P, Tollenaar, RAEM, Garcia-Closas, M, Figueroa, J, Hall, P, Czene, K, Brand, JS, Darabi, H, Eriksson, M, Hooning, Maartje, Koppert, Linetta, Li, JM, Shu, XO, Zheng, Y, Cox, A, Cross, SS, Shah, M, Rhenius, V, Choi, JY, Kang, D, Hartman, M, Chia, KS, Kabisch, M, Torres, D, Luccarini, C, Conroy, D M, Jakubowska, A, Lubinski, J, Sangrajrang, S, Brennan, P, Olswold, C, Slager, S, Shen, CY, Hou, MF, Swerdlow, A, Schoemaker, MJ, Simard, J, Pharoah, PDP, Kristensen, V, Chenevix-Trench, G, Easton, DF, Dunning, AM, and Edwards, SL

Published
2016

207. rs2735383, located at a microRNA binding site in the 3 ' UTR of NBS1, is not associated with breast cancer risk

Author

Liu, J (Jingjing), Loncar, Ivona, Collee, Margriet, Bolla, MK, Dennis, J, Michailidou, K, Wang, Q (Qing), Andrulis, IL, Barile, M, Beckmann, MW, Behrens, S, Benitez, J, Blomqvist, C, Boeckx, B, Bogdanova, NV, Bojesen, SE, Brauch, H, Brennan, P, Brenner, H, Broeks, A, Burwinkel, B, Chang-Claude, J, Chen, ST, Chenevix-Trench, G, Cheng, CY (Ching-Yu), Choi, JY, Couch, FJ, Cox, A, Cross, SS, Cuk, K, Czene, K, Dork, T, dos-Santos-Silva, I, Fasching, PA, Figueroa, J, Flyger, H, Garcia-Closas, M, Giles, GG, Glendon, G, Goldberg, MS, Gonzalez-Neira, A, Guenel, P, Haiman, CA, Hamann, U, Hart, S N, Hartman, M, Hatse, S, Hopper, JL, Ito, H, Jakubowska, A, Kabisch, M, Kang, D, Kosma, VM, Kristensen, VN, Le Marchand, L, Lee, E, Li, JM, Lophatananon, A, Lubinski, J, Mannermaa, A, Matsuo, K, Milne, RL, Neuhausen, SL, Nevanlinna, H, Orr, N, Perez, JIA, Peto, J, Putti, TC, Pylkas, K, Radice, P, Sangrajrang, S, Sawyer, EJ, Schmidt, MK (Marjanka), Schneeweiss, A, Shen, CY, Shrubsole, MJ, Shu, XO, Simard, J, Southey, MC, Swerdlow, A, Teo, SH, Tessier, DC, Thanasitthichai, S, Tomlinson, I, Torres, D, Truong, T, Tseng, CC, Vachon, C, Winqvist, R, Wu, AH, Yannoukakos, D, Zheng, W, Hall, P, Dunning, AM, Easton, DF, Hooning, Maartje, van den Ouweland, Ans, Martens, John, Hollestelle, Antoinette, Liu, J (Jingjing), Loncar, Ivona, Collee, Margriet, Bolla, MK, Dennis, J, Michailidou, K, Wang, Q (Qing), Andrulis, IL, Barile, M, Beckmann, MW, Behrens, S, Benitez, J, Blomqvist, C, Boeckx, B, Bogdanova, NV, Bojesen, SE, Brauch, H, Brennan, P, Brenner, H, Broeks, A, Burwinkel, B, Chang-Claude, J, Chen, ST, Chenevix-Trench, G, Cheng, CY (Ching-Yu), Choi, JY, Couch, FJ, Cox, A, Cross, SS, Cuk, K, Czene, K, Dork, T, dos-Santos-Silva, I, Fasching, PA, Figueroa, J, Flyger, H, Garcia-Closas, M, Giles, GG, Glendon, G, Goldberg, MS, Gonzalez-Neira, A, Guenel, P, Haiman, CA, Hamann, U, Hart, S N, Hartman, M, Hatse, S, Hopper, JL, Ito, H, Jakubowska, A, Kabisch, M, Kang, D, Kosma, VM, Kristensen, VN, Le Marchand, L, Lee, E, Li, JM, Lophatananon, A, Lubinski, J, Mannermaa, A, Matsuo, K, Milne, RL, Neuhausen, SL, Nevanlinna, H, Orr, N, Perez, JIA, Peto, J, Putti, TC, Pylkas, K, Radice, P, Sangrajrang, S, Sawyer, EJ, Schmidt, MK (Marjanka), Schneeweiss, A, Shen, CY, Shrubsole, MJ, Shu, XO, Simard, J, Southey, MC, Swerdlow, A, Teo, SH, Tessier, DC, Thanasitthichai, S, Tomlinson, I, Torres, D, Truong, T, Tseng, CC, Vachon, C, Winqvist, R, Wu, AH, Yannoukakos, D, Zheng, W, Hall, P, Dunning, AM, Easton, DF, Hooning, Maartje, van den Ouweland, Ans, Martens, John, and Hollestelle, Antoinette

Published
2016

208. Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche

Author

Perry, JRB, Day, F, Elks, CE, Sulem, P, Thompson, DJ, Ferreira, T, He, C, Chasman, DI, Esko, T, Thorleifsson, G, Albrecht, E, Ang, WQ, Corre, T, Cousminer, DL, Feenstra, B, Franceschini, N, Ganna, A, Johnson, AD, Kjellqvist, S, Lunetta, KL, McMahon, G, Nolte, IM, Paternoster, L, Porcu, E, Smith, AV, Stolk, L, Teumer, A, Tšernikova, N, Tikkanen, E, Ulivi, S, Wagner, EK, Amin, N, Bierut, LJ, Byrne, EM, Hottenga, JJ, Koller, DL, Mangino, M, Pers, TH, Yerges-Armstrong, LM, Zhao, JH, Andrulis, IL, Anton-Culver, H, Atsma, F, Bandinelli, S, Beckmann, MW, Benitez, J, Blomqvist, C, Bojesen, SE, Bolla, MK, Bonanni, B, Brauch, H, Brenner, H, Buring, JE, Chang-Claude, J, Chanock, S, Chen, J, Chenevix-Trench, G, Collée, JM, Couch, FJ, Couper, D, Coviello, AD, Cox, A, Czene, K, D'adamo, AP, Smith, GD, De Vivo, I, and Demerath, EW

Abstract

© 2014 Macmillan Publishers Limited. All rights reserved. Age at menarche is a marker of timing of puberty in females. It varies widely between individuals, is a heritable trait and is associated with risks for obesity, type 2 diabetes, cardiovascular disease, breast cancer and all-cause mortality. Studies of rare human disorders of puberty and animal models point to a complex hypothalamic-pituitary-hormonal regulation, but the mechanisms that determine pubertal timing and underlie its links to disease risk remain unclear. Here, using genome-wide and custom-genotyping arrays in up to 182,416 women of European descent from 57 studies, we found robust evidence (P < 5 × 10-8) for 123 signals at 106 genomic loci associated with age at menarche. Many loci were associated with other pubertal traits in both sexes, and there was substantial overlap with genes implicated in body mass index and various diseases, including rare disorders of puberty. Menarche signals were enriched in imprinted regions, with three loci (DLK1-WDR25, MKRN3-MAGEL2 and KCNK9) demonstrating parent-of-origin-specific associations concordant with known parental expression patterns. Pathway analyses implicated nuclear hormone receptors, particularly retinoic acid and γ-aminobutyric acid-B2 receptor signalling, among novel mechanisms that regulate pubertal timing in humans. Our findings suggest a genetic architecture involving at least hundreds of common variants in the coordinated timing of the pubertal transition.

Published
2014

209. Genetic Predisposition to In Situ and Invasive Lobular Carcinoma of the Breast

Author

Sawyer, E, Roylance, R, Petridis, C, Brook, MN, Nowinski, S, Papouli, E, Fletcher, O, Pinder, S, Hanby, A, Kohut, K, Gorman, P, Caneppele, M, Peto, J, Silva, ID, Johnson, N, Swann, R, Dwek, M, Perkins, KA, Gillett, C, Houlston, R, Ross, G, De Ieso, P, Southey, MC, Hopper, JL, Provenzano, E, Apicella, C, Wesseling, J, Cornelissen, S, Keeman, R, Fasching, PA, Jud, SM, Ekici, AB, Beckmann, MW, Kerin, MJ, Marme, F, Schneeweiss, A, Sohn, C, Burwinkel, B, Guenel, P, Laurent-Puig, P, Kerbrat, P, Bojesen, SE, Nordestgaard, BG, Nielsen, SF, Flyger, H, Milne, RL, Perez, JIA, Menendez, P, Benitez, J, Brenner, H, Dieffenbach, AK, Arndt, V, Stegmaier, C, Meindl, A, Lichtner, P, Schmutzler, RK, Lochmann, M, Brauch, H, Fischer, HP, Ko, YD, Nevanlinna, H, Muranen, TA, Aittomaki, K, Blomqvist, C, Bogdanova, NV, Dork, T, Lindblom, A, Margolin, S, Mannermaa, A, Kataja, V, Kosma, VM, Hartikainen, JM, Chenevix-Trench, G, Lambrechts, D, Weltens, C, van Limbergen, E, Hatse, S, Chang-Claude, J, Rudolph, A, Seibold, P, Flesch-Janys, D, Radice, P, Peterlongo, P, Bonanni, B, Volorio, S, Giles, GG, Severi, G, Baglietto, L, McLean, CA, Haiman, CA, Henderson, BE, Schumacher, F, Le Marchand, L, Simard, J, Goldberg, MS, Labreche, F, Dumont, M, Kristensen, V, Winqvist, R, Pylkas, K, Jukkola-Vuorinen, A, Kauppila, S, Andrulis, IL, Knight, JA, Glendon, G, Mulligan, AM, Devillee, P, Tollenaar, RAEM, Seynaeve, Caroline, Kriege, Mieke, Figueroa, J, Chanock, SJ, Sherman, ME, Hooning, Maartje, Hollestelle, Antoinette, van den Ouweland, Ans, van Deurzen, Carolien, Li, JM, Czene, K, Humphreys, K, Cox, A, Cross, SS, Reed, MWR, Shah, M, Jakubowska, A, Lubinski, J, Jaworska-Bieniek, K, Durda, K, Swerdlow, A, Ashworth, A, Orr, N, Schoemaker, M, Couch, FJ, Hallberg, E, Gonzalez-Neira, A, Pita, G, Alonso, MR, Tessier, DC, Vincent, D, Bacot, F, Bolla, MK, Wang, Q (Qing), Dennis, J, Michailidou, K, Dunning, AM, Hall, P, Easton, D, Pharoah, P, Schmidt, Marjanka K, Tomlinson, I, Garcia-Closas, M, Medical Oncology, Clinical Genetics, and Pathology

Subjects
body regions, SDG 3 - Good Health and Well-being, skin and connective tissue diseases
Abstract

Invasive lobular breast cancer (ILC) accounts for 10-15% of all invasive breast carcinomas. It is generally ER positive (ER+) and often associated with lobular carcinoma in situ (LCIS). Genome-wide association studies have identified more than 70 common polymorphisms that predispose to breast cancer, but these studies included predominantly ductal (IDC) carcinomas. To identify novel common polymorphisms that predispose to ILC and LCIS, we pooled data from 6,023 cases (5,622 ILC, 401 pure LCIS) and 34,271 controls from 36 studies genotyped using the iCOGS chip. Six novel SNPs most strongly associated with ILC/LCIS in the pooled analysis were genotyped in a further 516 lobular cases (482 ILC, 36 LCIS) and 1,467 controls. These analyses identified a lobular-specific SNP at 7q34 (rs11977670, OR (95% CI) for ILC = 1.13 (1.09-1.18), P = 6.0x10(-10); P-het for ILC vs IDC ER+ tumors = 1.8x10(-4)). Of the 75 known breast cancer polymorphisms that were genotyped, 56 were associated with ILC and 15 with LCIS at P

Published
2014

210. 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, JI, Zamora, MP, Menendez-Rodriguez, P, Hardisson, D, Mendiola, M, Gonzalez-Neira, A, Pita, G, Alonso, MR, Dennis, J, Wang, Q (Qing), Bolla, MK, Swerdlow, A, Ashworth, A, Orr, N, Schoemaker, M, Ko, YD, Brauch, H, Hamann, U, Andrulis, IL, Knight, JA, Glendon, G, Tchatchou, S, Matsuo, K, Ito, H, Iwata, H, Tajima, K, Li, JM, Brand, JS, Brenner, H, Dieffenbach, AK, Arndt, V, Stegmaier, C, Lambrechts, D, Peuteman, G, Christiaens, MR, Smeets, A, Jakubowska, A, Lubinski, J, Jaworska-Bieniek, K, Durda, K, Hartman, M, Hui, M, Lim, WY, Chan, CW, Marme, F, Yang, RX, Bugert, P, Lindblom, A, Margolin, S, Garcia-Closas, M, Chanock, SJ, Lissowska, J, Figueroa, JD, Bojesen, SE, Nordestgaard, BG, Flyger, H, Hooning, Maartje, Kriege, Mieke, van den Ouweland, Ans, Koppert, Linetta, Fletcher, O, Johnson, N, dos-Santos-Silva, I, Peto, J, Zheng, W, Deming-Halverson, S, Shrubsole, MJ, Long, JR, 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 (Marjanka), Broeks, A, Cornelissen, S, Braaf, L, Kang, D, Choi, JY, Park, SK, Noh, DY, 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, WT, Shen, CY, Hsiung, CN, Yu, JC, Hou, MF, Guenel, P, Sanchez, M, Mulot, C, Blot, W, Cai, QY, Nevanlinna, H, Muranen, TA, Aittomaki, K, Blomqvist, C, Wu, AH, Tseng, CC, van den Berg, D, Stram, DO, Bogdanova, N, Dork, T, Muir, K, Lophatananon, A, Stewart-Brown, S, Siriwanarangsan, P, Mannermaa, A, Kataja, V, Kosma, VM, Hartikainen, JM, Shu, XO, Lu, W, Gao, YT, Zhang, B, Couch, FJ, Toland, AE, Yannoukakos, D, Sangrajrang, S, Mckay, J, Wang, XS, Olson, JE, Vachon, C, Purrington, K, Severi, G, Baglietto, L, Haiman, CA, Henderson, BE, Schumacher, F, Le Marchand, L, Devilee, P, Tollenaar, RAEM, Seynaeve, Caroline, Czene, K, Eriksson, M, Humphreys, K, Darabi, H, Ahmed, S (Shahana), Shah, M, Pharoah, PDP, Hall, P, Giles, GG, Benitez, J, Dunning, AM, Chenevix-Trench, G, Easton, DF, Clinical Genetics, Cardiothoracic Surgery, Medical Oncology, and Surgery

Subjects
SDG 3 - Good Health and Well-being
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 x 10 26], AKAP9-M463I at 7q21 (rs6964587, OR = 1.05, 95% CI = 1.03-1.07, P = 1.7 x 10(-6)) and NEK10-L513S at 3p24 (rs10510592, OR = 1.10, 95% CI = 1.07-1.12, P = 5.1 x 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 x 10(-8)); for AKAP9-M463I, OR = 1.05 (95% CI = 1.04-1.07, P = 2.0 x 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

211. Genome-wide association study of subtype-specific epithelial ovarian cancer risk alleles using pooled DNA

Author

Earp, MA, Kelemen, LE, Magliocco, AM, Swenerton, KD, Chenevix-Trench, G, Lu, Y, Hein, A, Ekici, AB, Beckmann, MW, Fasching, PA, Lambrechts, D, Despierre, E, Vergote, I, Lambrechts, S, Doherty, JA, Rossing, MA, Chang-Claude, J, Rudolph, A, Friel, G, Moysich, KB, Odunsi, K, Sucheston-Campbell, L, Lurie, G, Goodman, MT, Carney, ME, Thompson, PJ, Runnebaum, IB, Dürst, M, Hillemanns, P, Dörk, T, Antonenkova, N, Bogdanova, N, Leminen, A, Nevanlinna, H, Pelttari, LM, Butzow, R, Bunker, CH, Modugno, F, Edwards, RP, Ness, RB, Du Bois, A, Heitz, F, Schwaab, I, Harter, P, Karlan, BY, Walsh, C, Lester, J, Jensen, A, Kjær, SK, Høgdall, CK, Høgdall, E, Lundvall, L, Sellers, TA, Fridley, BL, Goode, EL, Cunningham, JM, Vierkant, RA, Giles, GG, Baglietto, L, Severi, G, Southey, MC, Liang, D, Wu, X, Lu, K, Hildebrandt, MAT, Levine, DA, Bisogna, M, Schildkraut, JM, Iversen, ES, Weber, RP, Berchuck, A, Cramer, DW, Terry, KL, Poole, EM, Tworoger, SS, Bandera, EV, and Chandran, U

Subjects
endocrine system diseases, female genital diseases and pregnancy complications
Abstract

Epithelial ovarian cancer (EOC) is a heterogeneous cancer with both genetic and environmental risk factors. Variants influencing the risk of developing the less-common EOC subtypes have not been fully investigated. We performed a genome-wide association study (GWAS) of EOC according to subtype by pooling genomic DNA from 545 cases and 398 controls of European descent, and testing for allelic associations. We evaluated for replication 188 variants from the GWAS [56 variants for mucinous, 55 for endometrioid and clear cell, 53 for low-malignant potential (LMP) serous, and 24 for invasive serous EOC], selected using pre-defined criteria. Genotypes from 13,188 cases and 23,164 controls of European descent were used to perform unconditional logistic regression under the log-additive genetic model; odds ratios (OR) and 95 % confidence intervals are reported. Nine variants tagging six loci were associated with subtype-specific EOC risk at P < 0.05, and had an OR that agreed in direction of effect with the GWAS results. Several of these variants are in or near genes with a biological rationale for conferring EOC risk, including ZFP36L1 and RAD51B for mucinous EOC (rs17106154, OR = 1.17, P = 0.029, n = 1,483 cases), GRB10 for endometrioid and clear cell EOC (rs2190503, P = 0.014, n = 2,903 cases), and C22orf26/BPIL2 for LMP serous EOC (rs9609538, OR = 0.86, P = 0.0043, n = 892 cases). In analyses that included the 75 GWAS samples, the association between rs9609538 (OR = 0.84, P = 0.0007) and LMP serous EOC risk remained statistically significant at P < 0.0012 adjusted for multiple testing. Replication in additional samples will be important to verify these results for the less-common EOC subtypes. © 2013 Springer-Verlag Berlin Heidelberg.

Published
2014

212. Variation in NF-κB signaling pathways and survival in invasive epithelial ovarian cancer

Author

Block, MS, Charbonneau, B, Vierkant, RA, Fogarty, Z, Bamlet, WR, Pharoah, PDP, Chenevix-Trench, G, Rossing, MA, Cramer, D, Pearce, CL, Schildkraut, J, Menon, U, Kjaer, SK, Levine, DA, Gronwald, J, Culver, HA, Whittemore, AS, Karlan, BY, Lambrechts, D, Wentzensen, N, Kupryjanczyk, J, Chang-Claude, J, Bandera, EV, Hogdall, E, Heitz, F, Kaye, SB, Fasching, PA, Campbell, I, Goodman, MT, Pejovic, T, Bean, YT, Hays, LE, Lurie, G, Eccles, D, Hein, A, Beckmann, MW, Ekici, AB, Paul, J, Brown, R, Flanagan, JM, Harter, P, Du Bois, A, Schwaab, I, Hogdall, CK, Lundvall, L, Olson, SH, Orlow, I, Paddock, LE, Rudolph, A, Eilber, U, Dansonka-Mieszkowska, A, Rzepecka, IK, Ziolkowska-Seta, I, Brinton, LA, Yang, H, Garcia-Closas, M, Despierre, E, Lambrechts, S, Vergote, I, Walsh, CS, Lester, J, Sieh, W, McGuire, V, Rothstein, JH, Ziogas, A, Lubinski, J, Cybulski, C, Menkiszak, J, Jensen, A, Gayther, SA, Ramus, SJ, Gentry-Maharaj, A, Berchuck, A, Wu, AH, Pike, MC, Van Den Berg, D, Terry, KL, Vitonis, AF, Ramirez, SM, Rider, DN, Knutson, KL, and Sellers, TA

Subjects
endocrine system diseases, female genital diseases and pregnancy complications
Abstract

Survival in epithelial ovarian cancer (EOC) is influenced by the host immune response, yet the key genetic determinants of inflammation and immunity that affect prognosis are not known. The nuclear factor-kB (NF-kB) transcription factor family plays an important role in many immune and inflammatory responses, including the response to cancer. We studied common inherited variation in 210 genes in the NF-kB family in 10,084 patients with invasive EOC (5,248 high-grade serous, 1,452 endometrioid, 795 clear cell, and 661 mucinous) from the Ovarian Cancer Association Consortium. Associations between genotype and overall survival were assessed using Cox regression for all patients and by major histology, adjusting for known prognostic factors and correcting for multiple testing (threshold for statistical significance, P < 2.5 × 10-5). Results were statistically significant when assessed for patients of a single histology. Key associations were with caspase recruitment domain family, member 11 (CARD11) rs41324349 in patients with mucinous EOC [HR, 1.82; 95% confidence interval (CI), 1.41-2.35; P = 4.13 × 10-6] and tumor necrosis factor receptor superfamily, member 13B (TNFRSF13B) rs7501462 in patients with endometrioid EOC (HR, 0.68; 95% CI, 0.56-0.82; P = 2.33 × 10-5). Other associations of note included TNF receptor-associated factor 2 (TRAF2) rs17250239 in patients with high-grade serous EOC (HR, 0.84; 95% CI, 0.77-0.92; P = 6.49 ± 10-5) and phospholipase C, gamma 1 (PLCG1) rs11696662 in patients with clear cell EOC (HR, 0.43; 95% CI, 0.26-0.73; P = 4.56 × 10-4). These associations highlight the potential importance of genes associated with host inflammation and immunity in modulating clinical outcomes in distinct EOC histologies. © 2014 American Association for Cancer Research.

Published
2014

213. Genetic variation at CYP3A is associated with age at menarche and breast cancer risk: A case-control study

Author

Johnson, N, Dudbridge, F, Orr, N, Gibson, L, Jones, ME, Schoemaker, MJ, Folkerd, EJ, Haynes, BP, Hopper, JL, Southey, MC, Dite, GS, Apicella, C, Schmidt, MK, Broeks, A, Van't Veer, LJ, Atsma, F, Muir, K, Lophatananon, A, Fasching, PA, Beckmann, MW, Ekici, AB, Renner, SP, Sawyer, E, Tomlinson, I, Kerin, M, Miller, N, Burwinkel, B, Marme, F, Schneeweiss, A, Sohn, C, Guénel, P, Truong, T, Cordina, E, Menegaux, F, Bojesen, SE, Nordestgaard, BG, Flyger, H, Milne, R, Zamora, MP, Perez, JIA, Benitez, J, Bernstein, L, Anton-Culver, H, Ziogas, A, Dur, CC, Brenner, H, Müller, H, Arndt, V, Dieffenbach, AK, Meindl, A, Heil, J, Bartram, CR, Schmutzler, RK, Brauch, H, Justenhoven, C, Ko, YD, Nevanlinna, H, Muranen, TA, Aittomäki, K, Blomqvist, C, Matsuo, K, Dörk, T, Bogdanova, NV, Antonenkova, NN, Lindblom, A, Mannermaa, A, Kataja, V, Kosma, VM, Hartikainen, JM, Chenevix-Trench, G, Beesley, J, Wu, AH, Van den Berg, D, Tseng, CC, and Lambrechts, D

Abstract

© 2014 Johnson et al. Introduction: We have previously shown that a tag single nucleotide polymorphism (rs10235235), which maps to the CYP3A locus (7q22.1), was associated with a reduction in premenopausal urinary estrone glucuronide levels and a modest reduction in risk of breast cancer in women age ≤50 years. Methods: We further investigated the association of rs10235235 with breast cancer risk in a large case control study of 47,346 cases and 47,570 controls from 52 studies participating in the Breast Cancer Association Consortium. Genotyping of rs10235235 was conducted using a custom Illumina Infinium array. Stratified analyses were conducted to determine whether this association was modified by age at diagnosis, ethnicity, age at menarche or tumor characteristics. Results: We confirmed the association of rs10235235 with breast cancer risk for women of European ancestry but found no evidence that this association differed with age at diagnosis. Heterozygote and homozygote odds ratios (ORs) were OR = 0.98 (95% CI 0.94, 1.01; P = 0.2) and OR = 0.80 (95% CI 0.69, 0.93; P = 0.004), respectively (Ptrend = 0.02). There was no evidence of effect modification by tumor characteristics. rs10235235 was, however, associated with age at menarche in controls (Ptrend = 0.005) but not cases (Ptrend = 0.97). Consequently the association between rs10235235 and breast cancer risk differed according to age at menarche (Phet = 0.02); the rare allele of rs10235235 was associated with a reduction in breast cancer risk for women who had their menarche age ≥15 years (ORhet = 0.84, 95% CI 0.75, 0.94; ORhom = 0.81, 95% CI 0.51, 1.30; Ptrend = 0.002) but not for those who had their menarche age ≤11 years (ORhet = 1.06, 95% CI 0.95, 1.19, ORhom = 1.07, 95% CI 0.67, 1.72; Ptrend = 0.29). Conclusions: To our knowledge rs10235235 is the first single nucleotide polymorphism to be associated with both breast cancer risk and age at menarche consistent with the well-documented association between later age at menarche and a reduction in breast cancer risk. These associations are likely mediated via an effect on circulating hormone levels.

Published
2014

214. Consortium analysis of gene and gene-folate interactions in purine and pyrimidine metabolism pathways with ovarian carcinoma risk

Author

Kelemen, LE, Terry, KL, Goodman, MT, Webb, PM, Bandera, EV, McGuire, V, Anne Rossing, M, Wang, Q, Dicks, E, Tyrer, JP, Song, H, Kupryjanczyk, J, Dansonka-Mieszkowska, A, Plisiecka-Halasa, J, Timorek, A, Menon, U, Gentry-Maharaj, A, Gayther, SA, Ramus, SJ, Narod, SA, Risch, HA, McLaughlin, JR, Siddiqui, N, Glasspool, R, Paul, J, Carty, K, Gronwald, J, Lubiński, J, Jakubowska, A, Cybulski, C, Kiemeney, LA, Massuger, LFAG, van Altena, AM, Aben, KKH, Olson, SH, Orlow, I, Cramer, DW, Levine, DA, Bisogna, M, Giles, GG, Southey, MC, Bruinsma, F, Kjær, SK, Høgdall, E, Jensen, A, Høgdall, CK, Lundvall, L, Engelholm, SA, Heitz, F, du Bois, A, Harter, P, Schwaab, I, Butzow, R, Nevanlinna, H, Pelttari, LM, Leminen, A, Thompson, PJ, Lurie, G, Wilkens, LR, Lambrechts, D, Van Nieuwenhuysen, E, Lambrechts, S, Vergote, I, Beesley, J, Fasching, PA, Beckmann, MW, Hein, A, Ekici, AB, Doherty, JA, Wu, AH, Pearce, CL, Pike, MC, Stram, D, Chang-Claude, J, Rudolph, A, Dörk, T, Dürst, M, Hillemanns, P, Runnebaum, IB, and Bogdanova, N

Subjects
Folate, Serine hydroxymethyltransferase 1 (soluble), Case-control, Polymorphism, Dihydropyrimidine dehydrogenase
Abstract

© 2014 WILEY-VCH Verlag GmbH & Co. KGaA, Weinheim. Scope: We reevaluated previously reported associations between variants in pathways of onecarbon (1-C) (folate) transfer genes and ovarian carcinoma (OC) risk, and in related pathways of purine and pyrimidine metabolism, and assessed interactions with folate intake. Methods and results: Odds ratios (OR) for 446 genetic variants were estimated among 13 410 OC cases and 22 635 controls, and among 2281 cases and 3444 controls with folate information. Following multiple testing correction, the most significant main effect associations were for dihydropyrimidine dehydrogenase (DPYD) variants rs11587873 (OR = 0.92; p = 6 × 10-5) and rs828054 (OR = 1.06; p = 1 × 10-4). Thirteen variants in the pyrimidine metabolism genes, DPYD, DPYS, PPAT, and TYMS, also interacted significantly with folate in a multivariant analysis (corrected p = 9.9 × 10-6) but collectively explained only 0.2% of OC risk. Although no other associations were significant after multiple testing correction, variants in SHMT1 in 1-C transfer, previously reported with OC, suggested lower risk at higher folate (pinteraction= 0.03-0.006). Conclusion: Variation in pyrimidine metabolism genes, particularly DPYD, which was previously reported to be associated with OC, may influence risk; however, stratification by folate intake is unlikely to modify disease risk appreciably in these women. SHMT1 SNP-by-folate interactions are plausible but require further validation. Polymorphisms in selected genes in purine metabolism were not associated with OC.

Published
2014

215. Prädiktion der kompletten pathologischen Remission nach neoadjuvanter Chemotherapie durch Ki-67, den Östrogen- und Progesteronrezeptor

Author

Gaß, P, primary, Bani, M, additional, Bayer, CM, additional, Beckmann, MW, additional, Erber, R, additional, Hartmann, A, additional, Häberle, L, additional, Hein, A, additional, Heusinger, K, additional, Lux, MP, additional, Rauh, C, additional, Schulz-Wendtland, R, additional, Schrauder, MG, additional, Wachter, DL, additional, and Fasching, PA, additional

Published
2016
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216. Interest in integrative medicine among postmenopausal hormone receptor-positive breast cancer patients receiving letrozole treatment in the EvAluate-TM study

Author

Hack, CC, primary, Fasching, PA, additional, Fehm, T, additional, de Waal, J, additional, Rezai, M, additional, Baier, B, additional, Baake, G, additional, Kolberg, HC, additional, Guggenberger, M, additional, Warm, M, additional, Harbeck, N, additional, Wuerstlein, R, additional, Deuker, JU, additional, Dall, P, additional, Richter, B, additional, Wachsmann, G, additional, Brucker, C, additional, Siebers, JW, additional, Fersis, N, additional, Kuhn, T, additional, Wolf, C, additional, Vollert, HW, additional, Breitbach, GP, additional, Janni, W, additional, Landthaler, R, additional, Kohls, A, additional, Rezek, D, additional, Noesselt, T, additional, Fischer, G, additional, Henschen, S, additional, Praetz, T, additional, Heyl, V, additional, Kühn, T, additional, Krauß, T, additional, Thomssen, C, additional, Hohn, A, additional, Tesch, H, additional, Mundhenke, C, additional, Hein, A, additional, Rauh, C, additional, Bayer, CM, additional, Jacob, A, additional, Schmidt, K, additional, Belleville, E, additional, Hadji, P, additional, Brucker, SY, additional, Wallwiener, D, additional, Paepke, D, additional, Kümmel, S, additional, and Beckmann, MW, additional

Published
2016
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219. Die Verwendung automatisch generierter Texturmerkmale zur Bestimmung der Wahrscheinlichkeit, dass ein mit Ultraschall entdeckter Tumor auf dem Mammogramm übersehen wird

Author

Häberle, L, primary, Hack, CC, additional, Heusinger, K, additional, Wagner, F, additional, Heindl, F, additional, Gaß, P, additional, Jud, SM, additional, Franz, D, additional, Vachon, C, additional, Uder, M, additional, Beckmann, MW, additional, Schulz-Wendtland, R, additional, Wittenberg, T, additional, and Fasching, PA, additional

Published
2016
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220. Persistenz zirkulierender Tumorzellen direkt nach und zwei Jahre nach adjuvanter Chemotherapie bei Patientinnen mit früher Brustkrebserkrankung – Ergebnisse der SUCCESS Studien

Author

Jäger, B, primary, Andergassen, U, additional, Neugebauer, J, additional, Alunni-Fabbroni, M, additional, Melcher, C, additional, Hagenbeck, C, additional, Albrecht, S, additional, Lorenz, R, additional, Decker, T, additional, Heinrich, G, additional, Fehm, T, additional, Schneeweiss, A, additional, Beckmann, MW, additional, Pantel, K, additional, Friese, K, additional, Fasching, PA, additional, Friedl, TWP, additional, Janni, W, additional, and Rack, BK, additional

Published
2016
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221. Prognostischer Effekt von Änderungen der Anzahl zirkulierender Tumorzellen unter Chemotherapie bei Patientinnen mit frühem Mammakarzinom (EBC)

Author

Tzschaschel, M, primary, Rack, B, additional, Andergassen, U, additional, Trapp, E, additional, Alunni-Fabbroni, M, additional, Schneeweiss, A, additional, Müller, V, additional, Pantel, K, additional, Gade, J, additional, Lorenz, R, additional, Rezai, M, additional, Tesch, H, additional, Söling, U, additional, Fehm, T, additional, Mahner, S, additional, Schindelbeck, C, additional, Lichtenegger, W, additional, Beckmann, MW, additional, Fasching, PA, additional, Janni, W, additional, and Friedl, TWP, additional

Published
2016
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229. Detection of circulating tumor cells during long-term follow-up of high-risk breast cancer patients indicates poor prognosis – results of the adjuvant SUCCESS A trial

Author

Trapp, E, primary, Rack, B, additional, Friedl, TW, additional, Häberle, L, additional, Tesch, H, additional, Lorenz, R, additional, Jückstock, J, additional, Tzschaschel, M, additional, Alunni-Fabbroni, M, additional, Schramm, A, additional, Koch, J, additional, Jäger, B, additional, Müller, V, additional, Mahner, S, additional, Fehm, T, additional, Schneeweiss, A, additional, Beckmann, MW, additional, Lichtenegger, W, additional, Scholz, C, additional, and Janni, W, additional

Published
2016
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231. Das internationale Endometriose Evaluations-Programm (IEEP) – eine Studie für Kliniker, Forscher und Patientinnen

Author

Brodkorb, T, primary, Fehm, T, additional, Burghaus, S, additional, Blum, S, additional, Baier, F, additional, Renner, SK, additional, Häberle, L, additional, Heusinger, K, additional, Hildebrandt, T, additional, Lermann, J, additional, Tchartchian, G, additional, Bojahr, B, additional, Porn, A, additional, Fleisch, M, additional, Reicke, S, additional, Füger, T, additional, Hartung, CP, additional, Hackl, J, additional, Fasching, PA, additional, Beckmann, MW, additional, and Renner, SP, additional

Published
2016
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235. Eine neoadjuvante Carboplatin-haltige Therapie zeigt bei Patientinnen mit Brustkrebs nach Grading eine unterschiedliche pathologische Komplettremissionsrate (pCR)

Author

Gaß, P, primary, Bani, M, additional, Beckmann, MW, additional, Fiessler, C, additional, Hartmann, A, additional, Hein, A, additional, Heimrich, J, additional, Lux, MP, additional, Schrauder, MG, additional, Strahl, O, additional, Rauh, C, additional, Schulz-Wendtland, R, additional, Wachter, DL, additional, and Fasching, PA, additional

Published
2016
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241. Evaluierung der Dokumentationsqualität zur Brustzentrumszertifizierung im Rahmen des electronic case report forms (eCRF) der PRAEGNANT-Studie

Author

Gaß, P, primary, Brucker, SY, additional, Fehm, T, additional, Overkamp, F, additional, Janni, W, additional, Wallwiener, M, additional, Hadji, P, additional, Belleville, E, additional, Preuß, C, additional, Taran, F, additional, Luftner, FA, additional, Sell, C, additional, Beckmann, MW, additional, Lux, MP, additional, Ettl, J, additional, Muller, V, additional, Tesch, H, additional, Wallwiener, D, additional, Schneeweiss, A, additional, and Fasching, PA, additional

Published
2016
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243. Dynamik zirkulierender Tumorzellen unter Chemotherapie und Prognose bei Hochrisiko-Patientinnen mit frühem Mammakarzinom

Author

Tzschaschel, M, primary, Rack, B, additional, Andergassen, U, additional, Trapp, E, additional, Schneeweiss, A, additional, Müller, V, additional, Pantel, K, additional, Gade, J, additional, Lorenz, R, additional, Rezai, M, additional, Tesch, H, additional, Söling, U, additional, Fehm, T, additional, Mahner, S, additional, Schindlbeck, C, additional, Lichtenegger, W, additional, Beckmann, MW, additional, Fasching, PA, additional, Janni, W, additional, and Friedl, TWP, additional

Published
2016
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249. Multiomic approach to determine prognosis for patients with HER2-positive breast cancer

Author

Fasching, PA, primary, Rabizadeh, S, additional, Cecchi, F, additional, Beckmann, MW, additional, Brucker, SY, additional, Golovato, J, additional, Hartmann, A, additional, Hembrough, T, additional, Janni, W, additional, Rack, B, additional, Sanborn, Z, additional, Schneeweiss, A, additional, Vaske, CJ, additional, Soon-Shiong, P, additional, and Benz, S, additional

Published
2016
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