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1,160 results on '"Yu JC"'

2. Internal temperature measurements in response to cryogen spray cooling of a skin phantom

Author

Torres, JH, Anvari, B, Tanenbaum, BS, Milner, TE, Yu, JC, and Nelson, JS

Subjects
cutaneous hypervascular malformations, lasers, refrigerants, heat transfer, skin model, dermatology
Abstract

Cryogen spray cooling (CSC) can protect the epidermis from non-specific thermal injury during laser treatment of port wine stains and other hypervascular cutaneous malformations. Knowledge of skin internal temperatures in response to CSC is essential for optimization of this technique. We used an epoxy resin compound to construct a skin phantom and measured its internal temperatures in response to cooling with different cryogens at various spurt durations, spraying distances, and ambient humidity levels. The measured temperature distributions during CSC were fitted by a mathematical model based on thermal diffusion theory. For spurt durations up to 100 ms, temperature reduction within the phantom remained confined to the upper 200 μm, and was affected by spraying distance. Depending on the cryogen used, temperature reductions up to 45 °C could be measured 20 μm below the surface at the end of a 100 ms spurt. However, the cryogen film temperature on the epoxy resin surface was up to 35 °C lower, indicating lack of perfect thermal contact at the cryogen film-phantom interface. Theoretical predictions were within 10% of measured temperatures. Ice formation occurred following termination of the spurt and was influenced by the ambient humidity level.

Published
1999

4. Molecular signatures of soil-derived dissolved organic matter constrained by mineral weathering

Author

Wang, YH, Wang, YH, Zhang, P, He, C, Yu, JC, Shi, Q, Dahlgren, RA, Spencer, RGM, Yang, ZB, Wang, JJ, Wang, YH, Wang, YH, Zhang, P, He, C, Yu, JC, Shi, Q, Dahlgren, RA, Spencer, RGM, Yang, ZB, and Wang, JJ

Abstract

Dissolved organic matter (DOM) in soils drives biogeochemical cycling and soil functions in different directions depending on its molecular signature. Notably, there is a distinct paucity of information concerning how the molecular signatures of soil DOM vary with different degrees of weathering across wide geographic scales. Herein, we resolved the DOM molecular signatures from 22 diverse Chinese reference soils and linked them with soil organic matter and weathering-related mineralogical properties. The mixed-effects models revealed that the yields of DOM were determined by soil organic carbon content, whereas the molecular signature of DOM was primarily constrained by the weathering-related dimension. The soil weathering index showed a positive effect on the lability and a negative effect on the aromaticity of DOM. Specifically, DOM in highly weathered acidic soils featured more amino sugars, carbohydrates, and aliphatics, as well as less O-rich polyphenols and condensed aromatics, thereby conferring a higher DOM biolability and lower DOM aromaticity. This study highlights the dominance of the weathering-related dimension in constraining the molecular signatures and potential functions of DOM in soils across a wide geographic scale.

Published
2022

5. Realizing discontinuous quantum phase transitions in a strongly-correlated driven optical lattice

Author

Song, B, Dutta, S, Bhave, S, Yu, JC, Carter, E, Cooper, N, Schneider, U, Song, B [0000-0002-5495-8308], Dutta, S [0000-0002-3534-6920], Cooper, N [0000-0002-4662-1254], Schneider, U [0000-0003-4345-9498], and Apollo - University of Cambridge Repository

Subjects
Condensed Matter::Quantum Gases, Condensed Matter - Strongly Correlated Electrons, Strongly Correlated Electrons (cond-mat.str-el), 5102 Atomic, Molecular and Optical Physics, Quantum Gases (cond-mat.quant-gas), FOS: Physical sciences, General Physics and Astronomy, General Relativity and Quantum Cosmology (gr-qc), Condensed Matter - Quantum Gases, 51 Physical Sciences, 5108 Quantum Physics, General Relativity and Quantum Cosmology
Abstract

Discontinuous quantum phase transitions and the associated metastability play central roles in diverse areas of physics ranging from ferromagnetism to false vacuum decay in the early universe. Using strongly-interacting ultracold atoms in an optical lattice, we realize a driven many-body system whose quantum phase transition can be tuned from continuous to discontinuous. Resonant shaking of a one-dimensional optical lattice hybridizes the lowest two Bloch bands, driving a novel transition from a Mott insulator to a $\pi$-superfluid, i.e., a superfluid state with staggered phase order. For weak shaking amplitudes, this transition is discontinuous (first-order) and the system can remain frozen in a metastable state, whereas for strong shaking, it undergoes a continuous transition toward a $\pi$-superfluid. Our observations of this metastability and hysteresis are in good quantitative agreement with numerical simulations and pave the way for exploring the crucial role of quantum fluctuations in discontinuous transitions., Comment: 5 pages, 4 figures + Supplementary

Published
2021

8. Reproductive profiles and risk of breast cancer subtypes: a multi-center case-only study

Author

Brouckaert, O, Rudolph, A, Laenen, A, Keeman, R, Bolla, MK, Wang, Q, Soubry, A, Wildiers, H, Andrulis, IL, Arndt, V, Beckmann, MW, Benitez, J, Blomqvist, C, Bojesen, SE, Brauch, H, Brennan, P, Brenner, H, Chenevix-Trench, G, Choi, JY, Cornelissen, S, Couch, FJ, Cox, A, Cross, SS, Czene, K, Eriksson, M, Fasching, PA, Figueroa, J, Flyger, H, Giles, GG, Gonzalez-Neira, A, Guenel, P, Hall, P, Hollestelle, Antoinette, Hopper, JL, Ito, H, Jones, M, Kang, D, Knight, JA, Kosma, VM, Li, JM, Lindblom, A, Lilyquist, J, Lophatananon, A, Mannermaa, A, Manoukian, S, Margolin, S, Matsuo, K, Muir, K, Nevanlinna, H, Peterlongo, P, Pylkas, K, Saajrang, S, Seynaeve, Caroline, Shen, CY, Shu, XO, Southey, MC, Swerdlow, A, Teo, SH, Tollenaar, R, Truong, T, Tseng, CC, van den Broek, A J, van Deurzen, Carolien, Winqvist, R, Wu, AH, Yip, CH, Yu, JC, Zheng, W, Milne, RL, Pharoah, PDP, Easton, DF, Schmidt, MK (Marjanka), Garcia-Closas, M, Chang-Claude, J, Lambrechts, D, Neven, P, Brouckaert, O, Rudolph, A, Laenen, A, Keeman, R, Bolla, MK, Wang, Q, Soubry, A, Wildiers, H, Andrulis, IL, Arndt, V, Beckmann, MW, Benitez, J, Blomqvist, C, Bojesen, SE, Brauch, H, Brennan, P, Brenner, H, Chenevix-Trench, G, Choi, JY, Cornelissen, S, Couch, FJ, Cox, A, Cross, SS, Czene, K, Eriksson, M, Fasching, PA, Figueroa, J, Flyger, H, Giles, GG, Gonzalez-Neira, A, Guenel, P, Hall, P, Hollestelle, Antoinette, Hopper, JL, Ito, H, Jones, M, Kang, D, Knight, JA, Kosma, VM, Li, JM, Lindblom, A, Lilyquist, J, Lophatananon, A, Mannermaa, A, Manoukian, S, Margolin, S, Matsuo, K, Muir, K, Nevanlinna, H, Peterlongo, P, Pylkas, K, Saajrang, S, Seynaeve, Caroline, Shen, CY, Shu, XO, Southey, MC, Swerdlow, A, Teo, SH, Tollenaar, R, Truong, T, Tseng, CC, van den Broek, A J, van Deurzen, Carolien, Winqvist, R, Wu, AH, Yip, CH, Yu, JC, Zheng, W, Milne, RL, Pharoah, PDP, Easton, DF, Schmidt, MK (Marjanka), Garcia-Closas, M, Chang-Claude, J, Lambrechts, D, and Neven, P

Published
2017

9. Improving the Stability and Performance of Perovskite Light-Emitting Diodes by Thermal Annealing Treatment

Author

Yu, JC, Kim, DW, Kim, DB, Jung, ED, Park, JH, Lee, A-Y, Lee, BR, Di Nuzzo, D, Friend, RH, Song, MH, Di Nuzzo, Daniele [0000-0002-4462-9068], Friend, Richard [0000-0001-6565-6308], and Apollo - University of Cambridge Repository

Subjects
perovskites, long-term stability, electroluminescence, perovskite light-emitting diodes
Abstract

$\textbf{A perovskite LED with a perovskite film}$ treated under optimum thermal annealing conditions exhibits a significantly enhanced long-term stability with full coverage of the green electroluminescence emission due to the highly uniform morphology of the perovskite film.

Published
2016

10. Identification of independent association signals and putative functional variants for breast cancer risk through fine-scale mapping of the 12p11 locus

Author

Zeng, C, Guo, XY, Long, JR, Kuchenbaecker, KB, Droit, A, Michailidou, K, Ghoussaini, M, Kar, S, Freeman, A, Hopper, JL, Milne, RL, Bolla, MK, Wang, Q (Qing), Dennis, J, Agata, S, Ahmed, S (Shahana), Aittomaki, K, Andrulis, IL, Anton-Culver, H, Antonenkova, NN, Arason, A, Arndt, V, Arun, BK, Arver, B, Bacot, F, Barrowdale, D, Baynes, C, Beeghly-Fadiel, A, Benitez, J, Bermisheva, M, Blomqvist, C, Blot, WJ, Bogdanova, NV, Bojesen, SE, Bonanni, B, Borresen-Dale, AL, Brand, JS, Brauch, H, Brennan, P, Brenner, H, Broeks, A, Bruning, T, Burwinkel, B, Buys, SS, Cai, QY, Caldes, T, Campbell, I, Carpenter, J, Chang-Claude, J, Choi, JY, Claes, KBM, Clarke, C, Cox, A, Cross, SS, Czene, K, Daly, MB, de la Hoya, M, De Leeneer, K, Devilee, P, Diez, O, Domchek, SM, Doody, M, Dorfling, CM, Dork, T, dos-Santos-Silva, I, Dumont, M, Dwek, M, Dworniczak, B, Egan, K, Eilber, U, Einbeigi, Z, Ejlertsen, B, Ellis, S, Frost, D, Lalloo, F, Fasching, PA, Figueroa, J, Flyger, H, Friedlander, M, Friedman, E, Gambino, G, Gao, YT, Garber, J, Garcia-Closas, M, Gehrig, A, Damiola, F, Lesueur, F, Mazoyer, S, Stoppa-Lyonnet, D, Giles, GG, Godwin, AK, Goldgar, DE, Gonzalez-Neira, A, Greene, MH, Guenel, P, Haeberle, L, Haiman, CA, Hallberg, E, Hamann, U, Hansen, TVO, Hart, S, Hartikainen, JM, Hartman, M, Hassan, N, Healey, S, Hogervorst, FBL, Verhoef, S, Hendricks, C B, Hillemanns, P, Hollestelle, Antoinette, Hulick, PJ, Hunter, DJ, Imyanitov, EN, Isaacs, C, Ito, H, Jakubowska, A, Janavicius, R, Jaworska-Bieniek, K, Jensen, UB, John, EM, Beauparlant, C J, Jones, M, Kabisch, M, Kang, D, Karlan, BY, Kauppila, S, Kerin, MJ, Khan, Salima, Khusnutdinova, E, Knight, JA, Konstantopoulou, I, Kraft, P, Kwong, A, Laitman, Y, Lambrechts, D, Lazaro, C (Conxi), Le Marchand, L, Lee, CN, Lee, MH, Lester, J, Li, JM, Liljegren, A, Lindblom, A, Lophatananon, A, Lubinski, J, Mai, PL, Mannermaa, A, Manoukian, S, Margolin, S, Marme, F, Matsuo, K, McGuffog, L, Meindl, A, Menegaux, F, Montagna, M, Muir, K, Mulligan, AM, Nathanson, KL, Neuhausen, SL, Nevanlinna, H, Newcomb, PA, Nord, S, Nussbaum, RL, Offit, K, Olah, E, Olopade, OI, Olswold, C, Osorio, A, Papi, L, Park-Simon, TW, Paulsson-Karlsson, Y, Peeters, S, Peissel, B, Peterlongo, P, Peto, J, Pfeiler, G, Phelan, CM, Presneau, N, Radice, P, Rahman, N, Ramus, SJ, Rashid, MU, Rennert, G, Rhiem, K, Rudolph, A, Salani, R, Sangrajrang, S, Sawyer, EJ, Schmidt, MK (Marjanka), Schmutzler, RK, Schoemaker, MJ, Schurmann, P, Seynaeve, Caroline, Shen, CY, Shrubsole, MJ, Shu, XO, Sigurdson, A, Singer, CF, Slager, S, Soucy, P, Southey, M, Steinemann, D, Swerdlow, A, Szabo, CI, Tchatchou, S, Teixeira, MR, Teo, SH, Terry, MB, Tessier, DC, Teule, A, Thomassen, Marga, Tihomirova, L, Tischkowitz, M, Toland, AE, Tung, N, Turnbull, C, van den Ouweland, Ans, van Rensburg, EJ, van den Berg, D, Vijai, J, Wang-Gohrke, S, Weitzel, JN, Whittemore, AS, Winqvist, R, Wong, TY (Tien Yin), Wu, AH, Yannoukakos, D, Yu, JC, Pharoah, PDP, Hall, P, Chenevix-Trench, G, Dunning, AM, Simard, J, Couch, FJ, Antoniou, AC, Easton, DF, Zheng, W, Zeng, C, Guo, XY, Long, JR, Kuchenbaecker, KB, Droit, A, Michailidou, K, Ghoussaini, M, Kar, S, Freeman, A, Hopper, JL, Milne, RL, Bolla, MK, Wang, Q (Qing), Dennis, J, Agata, S, Ahmed, S (Shahana), Aittomaki, K, Andrulis, IL, Anton-Culver, H, Antonenkova, NN, Arason, A, Arndt, V, Arun, BK, Arver, B, Bacot, F, Barrowdale, D, Baynes, C, Beeghly-Fadiel, A, Benitez, J, Bermisheva, M, Blomqvist, C, Blot, WJ, Bogdanova, NV, Bojesen, SE, Bonanni, B, Borresen-Dale, AL, Brand, JS, Brauch, H, Brennan, P, Brenner, H, Broeks, A, Bruning, T, Burwinkel, B, Buys, SS, Cai, QY, Caldes, T, Campbell, I, Carpenter, J, Chang-Claude, J, Choi, JY, Claes, KBM, Clarke, C, Cox, A, Cross, SS, Czene, K, Daly, MB, de la Hoya, M, De Leeneer, K, Devilee, P, Diez, O, Domchek, SM, Doody, M, Dorfling, CM, Dork, T, dos-Santos-Silva, I, Dumont, M, Dwek, M, Dworniczak, B, Egan, K, Eilber, U, Einbeigi, Z, Ejlertsen, B, Ellis, S, Frost, D, Lalloo, F, Fasching, PA, Figueroa, J, Flyger, H, Friedlander, M, Friedman, E, Gambino, G, Gao, YT, Garber, J, Garcia-Closas, M, Gehrig, A, Damiola, F, Lesueur, F, Mazoyer, S, Stoppa-Lyonnet, D, Giles, GG, Godwin, AK, Goldgar, DE, Gonzalez-Neira, A, Greene, MH, Guenel, P, Haeberle, L, Haiman, CA, Hallberg, E, Hamann, U, Hansen, TVO, Hart, S, Hartikainen, JM, Hartman, M, Hassan, N, Healey, S, Hogervorst, FBL, Verhoef, S, Hendricks, C B, Hillemanns, P, Hollestelle, Antoinette, Hulick, PJ, Hunter, DJ, Imyanitov, EN, Isaacs, C, Ito, H, Jakubowska, A, Janavicius, R, Jaworska-Bieniek, K, Jensen, UB, John, EM, Beauparlant, C J, Jones, M, Kabisch, M, Kang, D, Karlan, BY, Kauppila, S, Kerin, MJ, Khan, Salima, Khusnutdinova, E, Knight, JA, Konstantopoulou, I, Kraft, P, Kwong, A, Laitman, Y, Lambrechts, D, Lazaro, C (Conxi), Le Marchand, L, Lee, CN, Lee, MH, Lester, J, Li, JM, Liljegren, A, Lindblom, A, Lophatananon, A, Lubinski, J, Mai, PL, Mannermaa, A, Manoukian, S, Margolin, S, Marme, F, Matsuo, K, McGuffog, L, Meindl, A, Menegaux, F, Montagna, M, Muir, K, Mulligan, AM, Nathanson, KL, Neuhausen, SL, Nevanlinna, H, Newcomb, PA, Nord, S, Nussbaum, RL, Offit, K, Olah, E, Olopade, OI, Olswold, C, Osorio, A, Papi, L, Park-Simon, TW, Paulsson-Karlsson, Y, Peeters, S, Peissel, B, Peterlongo, P, Peto, J, Pfeiler, G, Phelan, CM, Presneau, N, Radice, P, Rahman, N, Ramus, SJ, Rashid, MU, Rennert, G, Rhiem, K, Rudolph, A, Salani, R, Sangrajrang, S, Sawyer, EJ, Schmidt, MK (Marjanka), Schmutzler, RK, Schoemaker, MJ, Schurmann, P, Seynaeve, Caroline, Shen, CY, Shrubsole, MJ, Shu, XO, Sigurdson, A, Singer, CF, Slager, S, Soucy, P, Southey, M, Steinemann, D, Swerdlow, A, Szabo, CI, Tchatchou, S, Teixeira, MR, Teo, SH, Terry, MB, Tessier, DC, Teule, A, Thomassen, Marga, Tihomirova, L, Tischkowitz, M, Toland, AE, Tung, N, Turnbull, C, van den Ouweland, Ans, van Rensburg, EJ, van den Berg, D, Vijai, J, Wang-Gohrke, S, Weitzel, JN, Whittemore, AS, Winqvist, R, Wong, TY (Tien Yin), Wu, AH, Yannoukakos, D, Yu, JC, Pharoah, PDP, Hall, P, Chenevix-Trench, G, Dunning, AM, Simard, J, Couch, FJ, Antoniou, AC, Easton, DF, and Zheng, W

Published
2016

11. Functional mechanisms underlying pleiotropic risk alleles at the 19p13.1 breast-ovarian cancer susceptibility locus

Author

Lawrenson, K, Kar, S, Mccue, K, Kuchenbaeker, K, Michailidou, K, Tyrer, J, Beesley, J, Ramus, SJ, Li, QY, Delgado, MK, Lee, JM, Aittomaki, K, Andrulis, IL, Anton-Culver, H, Arndt, V, Arun, BK, Arver, B, Bandera, EV, Barile, M, Barkardottir, RB, Barrowdale, D, Beckmann, MW, Benitez, J, Berchuck, A, Bisogna, M, Bjorge, L, Blomqvist, C, Blot, W, Bogdanova, N, Bojesen, A, Bojesen, SE, Bolla, MK, Bonanni, B, Borresen-Dale, AL, Brauch, H, Brennan, P, Brenner, H, Bruinsma, F, Brunet, J, Buhari, SA, Burwinkel, B, Butzow, R, Buys, SS, Cai, QY, Caldes, T, Campbell, I, Canniotto, R, Chang-Claude, J, Chiquette, J, Choi, JY, Claes, KBM, Cook, LS, Cox, A, Cramer, DW, Cross, SS, Cybulski, C, Czene, K, Daly, MB, Damiola, F, Dansonka-Mieszkowska, A, Darabi, H, Dennis, J, Devilee, P, Diez, O, Doherty, JA, Domchek, SM, Dorfling, CM, Dork, T, Dumont, M, Ehrencrona, H, Ejlertsen, B, Ellis, S, Engel, C, Lee, E, Evans, DG, Fasching, PA, Feliubadalo, L, Figueroa, J, Flesch-Janys, D, Fletcher, O, Flyger, H, Foretova, L, Fostira, F, Foulkes, WD, Fridley, BL, Friedman, E, Frost, D, Gambino, G, Ganz, PA, Garber, J, Garcia-Closas, M, Gentry-Maharaj, A, Ghoussaini, M, Giles, GG, Glasspool, R, Godwin, AK, Goldberg, MS, Goldgar, DE, Gonzalez-Neira, A, Goode, EL, Goodman, MT, Greene, MH, Gronwald, J, Guenel, P, Haiman, CA, Hall, P, Hallberg, E, Hamann, U, Hansen, TVO, Harrington, PA, Hartman, M, Hassan, N, Healey, S, Heitz, F, Herzog, J, Hogdall, E, Hogdall, CK, Hogervorst, FBL, Hollestelle, Antoinette, Hopper, JL, Hulick, PJ, Huzarski, T, Imyanitov, EN, Isaacs, C, Ito, H, Jakubowska, A, Janavicius, R, Jensen, A, John, EM, Johnson, N, Kabisch, M, Kang, D, Kapuscinski, M, Karlan, BY, Khan, Salima, Kiemeney, LA, Kjaer, SK, Knight, JA, Konstantopoulou, I, Kosma, VM, Kristensen, V, Kupryjanczyk, J, Kwong, A, de la Hoya, M, Laitman, Y, Lambrechts, D, Le, N, De Leeneer, K, Lester, J, Levine, DA, Li, JM, Lindblom, A, Long, J, Lophatananon, A, Loud, JT, Lu, KR, Lubinski, J, Mannermaa, A, Manoukian, S, Le Marchand, L, Margolin, S, Marme, F, Massuger, LFAG, Matsuo, K, Mazoyer, S, McGuffog, L, McLean, C, McNeish, I, Meindl, A, Menon, U, Mensenkamp, AR, Milne, RL, Montagna, M, Moysich, KB, Muir, K, Mulligan, AM, Nathanson, KL, Ness, RB, Neuhausen, SL, Nevanlinna, H, Nord, S, Nussbaum, RL, Odunsi, K, Offit, K, Olah, E, Olopade, OI, Olson, JE, Olswold, C, O'Malley, D, Orlow, I, Orr, N, Osorio, A, Park, SK, Pearce, CL, Pejovic, T, Peterlongo, P, Pfeiler, G, Phelan, CM, Poole, EM, Pylkas, K, Radice, P, Rantala, J, Rashid, MU, Rennert, G, Rhenius, V, Rhiem, K, Risch, HA, Rodriguez, G, Rossing, MA, Rudolph, A, Salvesen, HB, Sangrajrang, S, Sawyer, EJ, Schildkraut, JM, Schmidt, MK (Marjanka), Schmutzler, RK, Sellers, TA, Seynaeve, Caroline, Shah, M, Shen, CY, Shu, XO, Sieh, W, Singer, CF, Sinilnikova, OM, Slager, S, Song, HL, Soucy, P, Southey, MC, Stenmark-Askmalm, M, Stoppa-Lyonnet, D, Sutter, C, Swerdlow, A, Tchatchou, S, Teixeira, MR, Teo, SH, Terry, KL, Terry, MB, Thomassen, Marga, Tibiletti, MG, Tihomirova, L, Tognazzo, S, Toland, AE, Tomlinson, I, Torres, D, Truong, T, Tseng, CC, Tung, N, Tworoger, SS, Vachon, C, van den Ouweland, Ans, van Doorn, Lena, van Rensburg, EJ, van 't Veer, LJ (Laura), Vanderstichele, A, Vergote, I, Vijai, J, Wang, Q (Qing), Wang-Gohrke, S, Weitzel, JN, Wentzensen, N, Whittemore, AS, Wildiers, H, Winqvist, R, Wu, AH, Yannoukakos, D, Yoon, SY, Yu, JC, Zheng, W, Zheng, Y, Khanna, KK, Simard, J, Monteiro, AN, French, JD, Couch, FJ, Freedman, ML, Easton, DF, Dunning, AM, Pharoah, PD, Edwards, SL, Chenevix-Trench, G, Antoniou, AC, Gayther, SA, Lawrenson, K, Kar, S, Mccue, K, Kuchenbaeker, K, Michailidou, K, Tyrer, J, Beesley, J, Ramus, SJ, Li, QY, Delgado, MK, Lee, JM, Aittomaki, K, Andrulis, IL, Anton-Culver, H, Arndt, V, Arun, BK, Arver, B, Bandera, EV, Barile, M, Barkardottir, RB, Barrowdale, D, Beckmann, MW, Benitez, J, Berchuck, A, Bisogna, M, Bjorge, L, Blomqvist, C, Blot, W, Bogdanova, N, Bojesen, A, Bojesen, SE, Bolla, MK, Bonanni, B, Borresen-Dale, AL, Brauch, H, Brennan, P, Brenner, H, Bruinsma, F, Brunet, J, Buhari, SA, Burwinkel, B, Butzow, R, Buys, SS, Cai, QY, Caldes, T, Campbell, I, Canniotto, R, Chang-Claude, J, Chiquette, J, Choi, JY, Claes, KBM, Cook, LS, Cox, A, Cramer, DW, Cross, SS, Cybulski, C, Czene, K, Daly, MB, Damiola, F, Dansonka-Mieszkowska, A, Darabi, H, Dennis, J, Devilee, P, Diez, O, Doherty, JA, Domchek, SM, Dorfling, CM, Dork, T, Dumont, M, Ehrencrona, H, Ejlertsen, B, Ellis, S, Engel, C, Lee, E, Evans, DG, Fasching, PA, Feliubadalo, L, Figueroa, J, Flesch-Janys, D, Fletcher, O, Flyger, H, Foretova, L, Fostira, F, Foulkes, WD, Fridley, BL, Friedman, E, Frost, D, Gambino, G, Ganz, PA, Garber, J, Garcia-Closas, M, Gentry-Maharaj, A, Ghoussaini, M, Giles, GG, Glasspool, R, Godwin, AK, Goldberg, MS, Goldgar, DE, Gonzalez-Neira, A, Goode, EL, Goodman, MT, Greene, MH, Gronwald, J, Guenel, P, Haiman, CA, Hall, P, Hallberg, E, Hamann, U, Hansen, TVO, Harrington, PA, Hartman, M, Hassan, N, Healey, S, Heitz, F, Herzog, J, Hogdall, E, Hogdall, CK, Hogervorst, FBL, Hollestelle, Antoinette, Hopper, JL, Hulick, PJ, Huzarski, T, Imyanitov, EN, Isaacs, C, Ito, H, Jakubowska, A, Janavicius, R, Jensen, A, John, EM, Johnson, N, Kabisch, M, Kang, D, Kapuscinski, M, Karlan, BY, Khan, Salima, Kiemeney, LA, Kjaer, SK, Knight, JA, Konstantopoulou, I, Kosma, VM, Kristensen, V, Kupryjanczyk, J, Kwong, A, de la Hoya, M, Laitman, Y, Lambrechts, D, Le, N, De Leeneer, K, Lester, J, Levine, DA, Li, JM, Lindblom, A, Long, J, Lophatananon, A, Loud, JT, Lu, KR, Lubinski, J, Mannermaa, A, Manoukian, S, Le Marchand, L, Margolin, S, Marme, F, Massuger, LFAG, Matsuo, K, Mazoyer, S, McGuffog, L, McLean, C, McNeish, I, Meindl, A, Menon, U, Mensenkamp, AR, Milne, RL, Montagna, M, Moysich, KB, Muir, K, Mulligan, AM, Nathanson, KL, Ness, RB, Neuhausen, SL, Nevanlinna, H, Nord, S, Nussbaum, RL, Odunsi, K, Offit, K, Olah, E, Olopade, OI, Olson, JE, Olswold, C, O'Malley, D, Orlow, I, Orr, N, Osorio, A, Park, SK, Pearce, CL, Pejovic, T, Peterlongo, P, Pfeiler, G, Phelan, CM, Poole, EM, Pylkas, K, Radice, P, Rantala, J, Rashid, MU, Rennert, G, Rhenius, V, Rhiem, K, Risch, HA, Rodriguez, G, Rossing, MA, Rudolph, A, Salvesen, HB, Sangrajrang, S, Sawyer, EJ, Schildkraut, JM, Schmidt, MK (Marjanka), Schmutzler, RK, Sellers, TA, Seynaeve, Caroline, Shah, M, Shen, CY, Shu, XO, Sieh, W, Singer, CF, Sinilnikova, OM, Slager, S, Song, HL, Soucy, P, Southey, MC, Stenmark-Askmalm, M, Stoppa-Lyonnet, D, Sutter, C, Swerdlow, A, Tchatchou, S, Teixeira, MR, Teo, SH, Terry, KL, Terry, MB, Thomassen, Marga, Tibiletti, MG, Tihomirova, L, Tognazzo, S, Toland, AE, Tomlinson, I, Torres, D, Truong, T, Tseng, CC, Tung, N, Tworoger, SS, Vachon, C, van den Ouweland, Ans, van Doorn, Lena, van Rensburg, EJ, van 't Veer, LJ (Laura), Vanderstichele, A, Vergote, I, Vijai, J, Wang, Q (Qing), Wang-Gohrke, S, Weitzel, JN, Wentzensen, N, Whittemore, AS, Wildiers, H, Winqvist, R, Wu, AH, Yannoukakos, D, Yoon, SY, Yu, JC, Zheng, W, Zheng, Y, Khanna, KK, Simard, J, Monteiro, AN, French, JD, Couch, FJ, Freedman, ML, Easton, DF, Dunning, AM, Pharoah, PD, Edwards, SL, Chenevix-Trench, G, Antoniou, AC, and Gayther, SA

Abstract

A locus at 19p13 is associated with breast cancer (BC) and ovarian cancer (OC) risk. Here we analyse 438 SNPs in this region in 46,451 BC and 15,438 OC cases, 15,252 BRCA1 mutation carriers and 73,444 controls and identify 13 candidate causal SNPs associated with serous OC (P = 9.2 x 10(-20)), ER-negative BC (P = 1.1 x 10(-13)), BRCA1-associated BC (P = 7.7 x 10(-16)) and triple negative BC (P-diff = 2 x 10(-5)). Genotype-gene expression associations are identified for candidate target genes ANKLE1 (P = 2 x 10(-3)) and ABHD8 (P<2 x 10(-3)). Chromosome conformation capture identifies interactions between four candidate SNPs and ABHD8, and luciferase assays indicate six risk alleles increased transactivation of the ADHD8 promoter. Targeted deletion of a region containing risk SNP rs56069439 in a putative enhancer induces ANKLE1 downregulation; and mRNA stability assays indicate functional effects for an ANKLE1 30-UTR SNP. Altogether, these data suggest that multiple SNPs at 19p13 regulate ABHD8 and perhaps ANKLE1 expression, and indicate common mechanisms underlying breast and ovarian cancer risk.

Published
2016

12. 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

13. Fine-Scale Mapping of the 5q11.2 Breast Cancer Locus Reveals at Least Three Independent Risk Variants Regulating MAP3K1

Author

Glubb, DM, Maranian, MJ, Michailidou, K, Pooley, KA, Meyer, KB, Kar, S, Carlebur, S, O'Reilly, M, Betts, JA, Hillman, KM, Kaufmann, S, Beesley, J, Canisius, S, Hopper, JL, Southey, MC, Tsimiklis, H, Apicella, C, Schmidt, MK (Marjanka), Broeks, A, Hogervorst, FB, van der Schoot, CE, Muir, K, Lophatananon, A, Stewart-Brown, S, Siriwanarangsan, P, Fasching, PA, Ruebner, M, Ekici, AB, Beckmann, MW, Peto, J, dos-Santos-Silva, I, Fletcher, O, Johnson, N, Pharoah, PDP, Bolla, MK, Wang, Q (Qing), Dennis, J, Sawyer, EJ, Tomlinson, I, Kerin, MJ, Miller, N, Burwinkel, B, Marme, F, Yang, RX, Surowy, H, Guenel, P, Truong, T, Menegaux, F, Sanchez, M, Bojesen, SE, Nordestgaard, BG, Nielsen, SF, Flyger, H, Gonzelez-Neira, A, Benitez, J, Zamora, MP, Perez, JIA, Anton-Culver, H, Neuhausen, SL, Brenner, H, Dieffenbach, AK, Arndt, V, Stegmaier, C, Meindl, A, Schmutzler, RK, Brauch, H, Ko, YD, Bruning, T, Nevanlinna, H, Muranen, TA, Aittomaki, K, Blomqvist, C, Matsuo, K, Ito, H, Iwata, H, Tanaka, H, Dork, T, Bogdanova, NV, Helbig, S, Lindblom, A, Margolin, S, Mannermaa, A, Kataja, V, Kosma, VM, Hartikainen, JM, Wu, AH, Tseng, CC, van den Berg, D, Stram, DO, Lambrechts, D, Zhao, H (Hui), Weltens, C, van Limbergen, E, Chang-Claude, J, Flesch-Janys, D, Rudolph, A, Seibold, P, Radice, P, Peterlongo, P, Barile, M, Capra, F, Couch, FJ, Olson, JE, Hallberg, E, Vachon, C, Giles, GG, Milne, RL, McLean, C, Haiman, CA, Henderson, BE, Schumacher, F, Le Marchand, L, Simard, J, Goldberg, MS, Labreche, F, Dumont, M, Teo, SH, Yip, CH, See, MH, Cornes, B, Cheng, CY (Ching-Yu), Ikram, Kamran, Kristensen, V, Zheng, W, Halverson, SL, Shrubsole, M, Long, J, Winqvist, R, Pylkas, K, Jukkola-Vuorinen, A, Kauppila, S, Andrulis, IL, Knight, JA, Glendon, G, Tchatchou, S, Devilee, P, Tollenaar, RAEM, Seynaeve, Caroline, van Asperen, CJ, Garcia-Closas, M, Figueroa, J, Chanock, SJ, Lissowska, J, Czene, K, Klevebring, D, Darabi, H, Eriksson, M, Hooning, Maartje, Hollestelle, Antoinette, Martens, John, Collee, Margriet, Hall, P, Li, JM, Humphreys, K, Shu, XO, Lu, W, Gao, YT, Cai, H, Cox, A, Cross, SS, Reed, MWR, Blot, W, Signorello, LB, Cai, QY, Shah, M, Ghoussaini, M, Kang, D, Choi, JY, Park, SK, Noh, DY, Hartman, M, Miao, H, Lim, WY, Tang, A, Hamann, U, Torres, D, Jakubowska, A, Lubinski, J, Jaworska, K, Durda, K, Sangrajrang, S, Gaborieau, V, Brennan, P, Mckay, J, Olswold, C, Slager, S, Toland, AE, Yannoukakos, D, Shen, CY, Wu, PE, Yu, JC, Hou, MF, Swerdlow, A, Ashworth, A, Orr, N, Jones, M, Pita, G, Alonso, MR, Alvarez, N, Herrero, D, Tessier, DC, Vincent, D, Bacot, F, Luccarini, C, Baynes, C, Ahmed, S (Shahana), Healey, CS, Brown, MA, Ponder, BAJ, Chenevix-Trench, G, Thompson, DJ, Edwards, SL, Easton, DF, Dunning, AM, French, JD, Glubb, DM, Maranian, MJ, Michailidou, K, Pooley, KA, Meyer, KB, Kar, S, Carlebur, S, O'Reilly, M, Betts, JA, Hillman, KM, Kaufmann, S, Beesley, J, Canisius, S, Hopper, JL, Southey, MC, Tsimiklis, H, Apicella, C, Schmidt, MK (Marjanka), Broeks, A, Hogervorst, FB, van der Schoot, CE, Muir, K, Lophatananon, A, Stewart-Brown, S, Siriwanarangsan, P, Fasching, PA, Ruebner, M, Ekici, AB, Beckmann, MW, Peto, J, dos-Santos-Silva, I, Fletcher, O, Johnson, N, Pharoah, PDP, Bolla, MK, Wang, Q (Qing), Dennis, J, Sawyer, EJ, Tomlinson, I, Kerin, MJ, Miller, N, Burwinkel, B, Marme, F, Yang, RX, Surowy, H, Guenel, P, Truong, T, Menegaux, F, Sanchez, M, Bojesen, SE, Nordestgaard, BG, Nielsen, SF, Flyger, H, Gonzelez-Neira, A, Benitez, J, Zamora, MP, Perez, JIA, Anton-Culver, H, Neuhausen, SL, Brenner, H, Dieffenbach, AK, Arndt, V, Stegmaier, C, Meindl, A, Schmutzler, RK, Brauch, H, Ko, YD, Bruning, T, Nevanlinna, H, Muranen, TA, Aittomaki, K, Blomqvist, C, Matsuo, K, Ito, H, Iwata, H, Tanaka, H, Dork, T, Bogdanova, NV, Helbig, S, Lindblom, A, Margolin, S, Mannermaa, A, Kataja, V, Kosma, VM, Hartikainen, JM, Wu, AH, Tseng, CC, van den Berg, D, Stram, DO, Lambrechts, D, Zhao, H (Hui), Weltens, C, van Limbergen, E, Chang-Claude, J, Flesch-Janys, D, Rudolph, A, Seibold, P, Radice, P, Peterlongo, P, Barile, M, Capra, F, Couch, FJ, Olson, JE, Hallberg, E, Vachon, C, Giles, GG, Milne, RL, McLean, C, Haiman, CA, Henderson, BE, Schumacher, F, Le Marchand, L, Simard, J, Goldberg, MS, Labreche, F, Dumont, M, Teo, SH, Yip, CH, See, MH, Cornes, B, Cheng, CY (Ching-Yu), Ikram, Kamran, Kristensen, V, Zheng, W, Halverson, SL, Shrubsole, M, Long, J, Winqvist, R, Pylkas, K, Jukkola-Vuorinen, A, Kauppila, S, Andrulis, IL, Knight, JA, Glendon, G, Tchatchou, S, Devilee, P, Tollenaar, RAEM, Seynaeve, Caroline, van Asperen, CJ, Garcia-Closas, M, Figueroa, J, Chanock, SJ, Lissowska, J, Czene, K, Klevebring, D, Darabi, H, Eriksson, M, Hooning, Maartje, Hollestelle, Antoinette, Martens, John, Collee, Margriet, Hall, P, Li, JM, Humphreys, K, Shu, XO, Lu, W, Gao, YT, Cai, H, Cox, A, Cross, SS, Reed, MWR, Blot, W, Signorello, LB, Cai, QY, Shah, M, Ghoussaini, M, Kang, D, Choi, JY, Park, SK, Noh, DY, Hartman, M, Miao, H, Lim, WY, Tang, A, Hamann, U, Torres, D, Jakubowska, A, Lubinski, J, Jaworska, K, Durda, K, Sangrajrang, S, Gaborieau, V, Brennan, P, Mckay, J, Olswold, C, Slager, S, Toland, AE, Yannoukakos, D, Shen, CY, Wu, PE, Yu, JC, Hou, MF, Swerdlow, A, Ashworth, A, Orr, N, Jones, M, Pita, G, Alonso, MR, Alvarez, N, Herrero, D, Tessier, DC, Vincent, D, Bacot, F, Luccarini, C, Baynes, C, Ahmed, S (Shahana), Healey, CS, Brown, MA, Ponder, BAJ, Chenevix-Trench, G, Thompson, DJ, Edwards, SL, Easton, DF, Dunning, AM, and French, JD

Abstract

Genome-wide association studies (GWASs) have revealed SNP rs889312 on 5q11.2 to be associated with breast cancer risk in women of European ancestry. In an attempt to identify the biologically relevant variants, we analyzed 909 genetic variants across 5q11.2 in 103,991 breast cancer individuals and control individuals from 52 studies in the Breast Cancer Association Consortium. Multiple logistic regression analyses identified three independent risk signals: the strongest associations were with 15 correlated variants (iCHAV1), where the minor allele of the best candidate, rs62355902, associated with significantly increased risks of both estrogen-receptor-positive (ER-: odds ratio [OR] = 1.24, 95% confidence interval [CI] = 1.21-1.27, p(trend) = 5.7 3 10(-44)) and estrogen-receptor-negative (ER-: OR = 1.10, 95% CI = 1.05-1.15, p(trend) = 3.0 x 10(-4)) tumors. After adjustment for rs62355902, we found evidence of association of a further 173 variants (iCHAV2) containing three subsets with a range of effects (the strongest was rs113317823 [p(cond) = 1.61 x 10(-5)]) and five variants composing iCHAV3 (lead rs11949391; ER-: OR = 0.90, 95% CI = 0.87-0.93, p(cond) = 1.4 x 10(-4)). Twenty-six percent of the prioritized candidate variants coincided with four putative regulatory elements that interact with the MAP3K1 promoter through chromatin looping and affect MAP3K1 promoter activity. Functional analysis indicated that the cancer risk alleles of four candidates (rs74345699 and rs62355900 [iCHAV1], rs16886397 [iCHAV2a], and rs17432750 [iCHAV3]) increased MAP3K1 transcriptional activity. Chromatin immunoprecipitation analysis revealed diminished GATA3 binding to the minor (cancer-protective) allele of rs17432750, indicating a mechanism for its action. We propose that the cancer risk alleles act to increase MAP3K1 expression in vivo and might promote breast cancer cell survival.

Published
2015

14. 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 (Marjanka), Broeks, A, van 't Veer, LJ (Laura), 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, Guenel, 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, Muller, H, Arndt, V, Dieffenbach, AK, Meindl, A, Heil, J, Bartram, CR, Schmutzler, RK, Brauch, H, Justenhoven, C, Ko, YD, Nevanlinna, H, Muranen, TA, Aittomaki, K, Blomqvist, C, Matsuo, K, Dork, 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, Lambrechts, D, Smeets, D, Neven, P, Wildiers, H, Chang-Claude, J, Rudolph, A, Nickels, S, Flesch-Janys, D, Radice, P, Peterlongo, P, Bonanni, B, Pensotti, V, Couch, FJ, Olson, JE, Wang, XS, Fredericksen, Z, Pankratz, VS, Giles, GG, Severi, G, Baglietto, L, Haiman, C, Simard, J, Goldberg, MS, Labreche, F, Dumont, M, Soucy, P, Teo, S, Yip, CH, Phuah, SY, Cornes, BK, Kristensen, VN, Alnaes, GG, Borresen-Dale, AL, Zheng, W, Winqvist, R, Pylkas, K, Jukkola-Vuorinen, A, Grip, M, Andrulis, IL, Knight, JA, Glendon, G, Mulligan, AM, Devillee, P, Figueroa, J, Chanock, SJ, Lissowska, J, Sherman, ME, Hall, P, Schoof, N, Hooning, Maartje, Hollestelle, Antoinette, Oldenburg, Rogier, Tilanus - Linthorst, Madeleine, Liu, JJ, Cox, A, Brock, IW, Reed, MWR, Cross, SS, Blot, W, Signorello, LB, Pharoah, PDP, Dunning, AM, Shah, M, Kang, D, Noh, DY, Park, SK, Choi, JY, Hartman, M, Miao, H, Lim, WY, Tang, A, Hamann, U, Forsti, A, Rudiger, T, Ulmer, HU, Jakubowska, A, Lubinski, J, Jaworska-Bieniek, K, Durda, K, Sangrajrang, S, Gaborieau, V, Brennan, P, Mckay, J, Slager, S, Toland, AE, Vachon, C, Yannoukakos, D, Shen, CY, Yu, JC, Huang, CS, Hou, MF, Gonzalez-Neira, A, Tessier, DC, Vincent, D, Bacot, F, Luccarini, C, Dennis, J, Michailidou, K, Bolla, MK, Wang, Johnny, Easton, DF, Garcia-Closas, M, Dowsett, M, Ashworth, A, Swerdlow, AJ, Peto, J, Silva, ID, Fletcher, O, 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 (Marjanka), Broeks, A, van 't Veer, LJ (Laura), 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, Guenel, 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, Muller, H, Arndt, V, Dieffenbach, AK, Meindl, A, Heil, J, Bartram, CR, Schmutzler, RK, Brauch, H, Justenhoven, C, Ko, YD, Nevanlinna, H, Muranen, TA, Aittomaki, K, Blomqvist, C, Matsuo, K, Dork, 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, Lambrechts, D, Smeets, D, Neven, P, Wildiers, H, Chang-Claude, J, Rudolph, A, Nickels, S, Flesch-Janys, D, Radice, P, Peterlongo, P, Bonanni, B, Pensotti, V, Couch, FJ, Olson, JE, Wang, XS, Fredericksen, Z, Pankratz, VS, Giles, GG, Severi, G, Baglietto, L, Haiman, C, Simard, J, Goldberg, MS, Labreche, F, Dumont, M, Soucy, P, Teo, S, Yip, CH, Phuah, SY, Cornes, BK, Kristensen, VN, Alnaes, GG, Borresen-Dale, AL, Zheng, W, Winqvist, R, Pylkas, K, Jukkola-Vuorinen, A, Grip, M, Andrulis, IL, Knight, JA, Glendon, G, Mulligan, AM, Devillee, P, Figueroa, J, Chanock, SJ, Lissowska, J, Sherman, ME, Hall, P, Schoof, N, Hooning, Maartje, Hollestelle, Antoinette, Oldenburg, Rogier, Tilanus - Linthorst, Madeleine, Liu, JJ, Cox, A, Brock, IW, Reed, MWR, Cross, SS, Blot, W, Signorello, LB, Pharoah, PDP, Dunning, AM, Shah, M, Kang, D, Noh, DY, Park, SK, Choi, JY, Hartman, M, Miao, H, Lim, WY, Tang, A, Hamann, U, Forsti, A, Rudiger, T, Ulmer, HU, Jakubowska, A, Lubinski, J, Jaworska-Bieniek, K, Durda, K, Sangrajrang, S, Gaborieau, V, Brennan, P, Mckay, J, Slager, S, Toland, AE, Vachon, C, Yannoukakos, D, Shen, CY, Yu, JC, Huang, CS, Hou, MF, Gonzalez-Neira, A, Tessier, DC, Vincent, D, Bacot, F, Luccarini, C, Dennis, J, Michailidou, K, Bolla, MK, Wang, Johnny, Easton, DF, Garcia-Closas, M, Dowsett, M, Ashworth, A, Swerdlow, AJ, Peto, J, Silva, ID, and Fletcher, O

Abstract

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 (P-trend = 0.02). There was no evidence of effect modification by tumor characteristics. rs10235235 was, however, associated with age at menarche in controls (P-trend = 0.005) but not cases (P-trend = 0.97). Consequently the association between rs10235235 and breast cancer risk differed according to age at menarche (P-het = 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; P-trend = 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; P-trend = 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 l

Published
2014

20. Genetic variants of myeloperoxidase and catechol-O-methyltransferase and breast cancer risk

Author

Chien-An Sun, Chien-Jen Chen, Lin Wy, San Lin You, Yu-Ching Chou, Mei-Hsuan Wu, Shih Chieh Lin, Wu Cc, Cheng-Ping Yu, and Yu Jc

Subjects
Cancer Research, medicine.medical_specialty, Genotype, Epidemiology, Breast Neoplasms, Catechol O-Methyltransferase, Breast cancer, Polymorphism (computer science), Risk Factors, Internal medicine, medicine, Odds Ratio, Humans, Genetic Predisposition to Disease, Peroxidase, Pregnancy, Catechol-O-methyl transferase, Polymorphism, Genetic, biology, business.industry, Public Health, Environmental and Occupational Health, Odds ratio, Middle Aged, medicine.disease, Oxidative Stress, Endocrinology, Oncology, Myeloperoxidase, Case-Control Studies, biology.protein, Menarche, Female, business
Abstract

This nested case-control study evaluated the role of polymorphisms in the myeloperoxidase (MPO) and catechol-O-methyltransferase (COMT) genes that modulate oxidative stress in breast cancer risk in a Chinese population. Our results demonstrate that the MPO A/A genotype was associated with a reduced risk of breast cancer (odds ratio (OR) 0.64; 95% confidence interval (CI) 0.11-3.76), whereas there was no overall association of COMT genotype with breast cancer. Of note, an elevated breast cancer risk associated with the increasing numbers of high-risk genotypes of MPO and COMT genes was observed in women with a longer duration between menarche and first full-term pregnancy.

Published
2005

23. Effects of Thyroxine Exposure on Osteogenesis in Mouse Calvarial Pre-Osteoblasts

Author

Cray, JJ, Khaksarfard, K, Weinberg, SM, Elsalanty, M, Yu, JC, Cray, JJ, Khaksarfard, K, Weinberg, SM, Elsalanty, M, and Yu, JC

Abstract

The incidence of craniosynostosis is one in every 1,800-2500 births. The gene-environment model proposes that if a genetic predisposition is coupled with environmental exposures, the effects can be multiplicative resulting in severely abnormal phenotypes. At present, very little is known about the role of gene-environment interactions in modulating craniosynostosis phenotypes, but prior evidence suggests a role for endocrine factors. Here we provide a report of the effects of thyroid hormone exposure on murine calvaria cells. Murine derived calvaria cells were exposed to critical doses of pharmaceutical thyroxine and analyzed after 3 and 7 days of treatment. Endpoint assays were designed to determine the effects of the hormone exposure on markers of osteogenesis and included, proliferation assay, quantitative ALP activity assay, targeted qPCR for mRNA expression of Runx2, Alp, Ocn, and Twist1, genechip array for 28,853 targets, and targeted osteogenic microarray with qPCR confirmations. Exposure to thyroxine stimulated the cells to express ALP in a dose dependent manner. There were no patterns of difference observed for proliferation. Targeted RNA expression data confirmed expression increases for Alp and Ocn at 7 days in culture. The genechip array suggests substantive expression differences for 46 gene targets and the targeted osteogenesis microarray indicated 23 targets with substantive differences. 11 gene targets were chosen for qPCR confirmation because of their known association with bone or craniosynostosis (Col2a1, Dmp1, Fgf1, 2, Igf1, Mmp9, Phex, Tnf, Htra1, Por, and Dcn). We confirmed substantive increases in mRNA for Phex, FGF1, 2, Tnf, Dmp1, Htra1, Por, Igf1 and Mmp9, and substantive decreases for Dcn. It appears thyroid hormone may exert its effects through increasing osteogenesis. Targets isolated suggest a possible interaction for those gene products associated with calvarial suture growth and homeostasis as well as craniosynostosis. © 2013 Cray et a

Published
2013

24. Breast Cancer Risk and 6q22.33: Combined Results from Breast Cancer Association Consortium and Consortium of Investigators on Modifiers of BRCA1/2

Author

Kirchhoff, T, Gaudet, MM, Antoniou, AC, McGuffog, L, Humphreys, MK, Dunning, AM, Bojesen, SE, Nordestgaard, BG, Flyger, H, Kang, D, Yoo, KY, Noh, DY, Ahn, SH, Dork, T, Schurmann, P, Karstens, JH, Hillemanns, P, Couch, FJ, Olson, J, Vachon, C, Wang, XS, Cox, A, Brock, I, Elliott, G, Reed, MWR, Burwinkel, B, Meindl, A, Brauch, H, Hamann, U, Ko, YD, Broeks, A, Schmidt, Marjanka K, van 't Veer, LJ (Laura), Braaf, LM, Johnson, N, Fletcher, O, Gibson, L, Peto, J, Turnbull, C, Seal, S, Renwick, A, Rahman, N, Wu, PE, Yu, JC, Hsiung, CN, Shen, CY, Southey, MC, Hopper, JL, Hammet, F, Van Dorpe, T, Dieudonne, AS, Hatse, S, Lambrechts, D, Andrulis, IL, Bogdanova, N, Antonenkova, N, Rogov, JI, Prokofieva, D, Bermisheva, M, Khusnutdinova, E, van Asperen, CJ, Tollenaar, RAEM, Hooning, Maartje, Devilee, P, Margolin, S, Lindblom, A, Milne, RL, Arias, JI, Zamora, MP, Benitez, J, Severi, G, Baglietto, L, Giles, GG, Spurdle, AB, Beesley, J, Chen, XQ, Holland, H, Healey, S, Wang-Gohrke, S, Chang-Claude, J, Mannermaa, A, Kosma, VM, Kauppinen, J, Kataja, V, Agnarsson, BA, Caligo, MA, Godwin, AK, Nevanlinna, H, Heikkinen, T, Fredericksen, Z, Lindor, N, Nathanson, KL, Domchek, SM, Loman, N, Karlsson, P, Askmalm, MS, Melin, B, von Wachenfeldt, A, Hogervorst, FBL, Verheus, M, Rookus, MA, Seynaeve, Caroline, Oldenburg, Rogier, Ligtenberg, MJ, Ausems, MGEM, Aalfs, CM, Gille, HJP, Wijnen, JT, Garcia, EBG, Peock, S, Cook, M, Oliver, CT, Frost, D, Luccarini, C, Pichert, G, Davidson, R, Chu, C, Eccles, D, Ong, KR, Cook, J, Douglas, F, Hodgson, S, Evans, DG, Eeles, R, Gold, B, Pharoah, PDP, Offit, K, Chenevix-Trench, G, Easton, DF, Kirchhoff, T, Gaudet, MM, Antoniou, AC, McGuffog, L, Humphreys, MK, Dunning, AM, Bojesen, SE, Nordestgaard, BG, Flyger, H, Kang, D, Yoo, KY, Noh, DY, Ahn, SH, Dork, T, Schurmann, P, Karstens, JH, Hillemanns, P, Couch, FJ, Olson, J, Vachon, C, Wang, XS, Cox, A, Brock, I, Elliott, G, Reed, MWR, Burwinkel, B, Meindl, A, Brauch, H, Hamann, U, Ko, YD, Broeks, A, Schmidt, Marjanka K, van 't Veer, LJ (Laura), Braaf, LM, Johnson, N, Fletcher, O, Gibson, L, Peto, J, Turnbull, C, Seal, S, Renwick, A, Rahman, N, Wu, PE, Yu, JC, Hsiung, CN, Shen, CY, Southey, MC, Hopper, JL, Hammet, F, Van Dorpe, T, Dieudonne, AS, Hatse, S, Lambrechts, D, Andrulis, IL, Bogdanova, N, Antonenkova, N, Rogov, JI, Prokofieva, D, Bermisheva, M, Khusnutdinova, E, van Asperen, CJ, Tollenaar, RAEM, Hooning, Maartje, Devilee, P, Margolin, S, Lindblom, A, Milne, RL, Arias, JI, Zamora, MP, Benitez, J, Severi, G, Baglietto, L, Giles, GG, Spurdle, AB, Beesley, J, Chen, XQ, Holland, H, Healey, S, Wang-Gohrke, S, Chang-Claude, J, Mannermaa, A, Kosma, VM, Kauppinen, J, Kataja, V, Agnarsson, BA, Caligo, MA, Godwin, AK, Nevanlinna, H, Heikkinen, T, Fredericksen, Z, Lindor, N, Nathanson, KL, Domchek, SM, Loman, N, Karlsson, P, Askmalm, MS, Melin, B, von Wachenfeldt, A, Hogervorst, FBL, Verheus, M, Rookus, MA, Seynaeve, Caroline, Oldenburg, Rogier, Ligtenberg, MJ, Ausems, MGEM, Aalfs, CM, Gille, HJP, Wijnen, JT, Garcia, EBG, Peock, S, Cook, M, Oliver, CT, Frost, D, Luccarini, C, Pichert, G, Davidson, R, Chu, C, Eccles, D, Ong, KR, Cook, J, Douglas, F, Hodgson, S, Evans, DG, Eeles, R, Gold, B, Pharoah, PDP, Offit, K, Chenevix-Trench, G, and Easton, DF

Abstract

Recently, a locus on chromosome 6q22.33 (rs2180341) was reported to be associated with increased breast cancer risk in the Ashkenazi Jewish (AJ) population, and this association was also observed in populations of non-AJ European ancestry. In the present study, we performed a large replication analysis of rs2180341 using data from 31,428 invasive breast cancer cases and 34,700 controls collected from 25 studies in the Breast Cancer Association Consortium (BCAC). In addition, we evaluated whether rs2180341 modifies breast cancer risk in 3,361 BRCA1 and 2,020 BRCA2 carriers from 11 centers in the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA). Based on the BCAC data from women of European ancestry, we found evidence for a weak association with breast cancer risk for rs2180341 (per-allele odds ratio (OR) = 1.03, 95% CI 1.00-1.06, p = 0.023). There was evidence for heterogeneity in the ORs among studies (I-2 = 49.3%; p = <0.004). In CIMBA, we observed an inverse association with the minor allele of rs2180341 and breast cancer risk in BRCA1 mutation carriers (per-allele OR = 0.89, 95% CI 0.80-1.00, p = 0.048), indicating a potential protective effect of this allele. These data suggest that that 6q22.33 confers a weak effect on breast cancer risk.

Published
2012

25. Comparison of 6q25 Breast Cancer Hits from Asian and European Genome Wide Association Studies in the Breast Cancer Association Consortium (BCAC)

Author

Hein, R, Maranian, M, Hopper, JL, Kapuscinski, MK, Southey, MC, Park, DJ, Schmidt, Marjanka K, Broeks, A, Hogervorst, FBL, Bueno-de-Mesquit, HB, Muir, KR, Lophatananon, A, Rattanamongkongul, S, Puttawibul, P, Fasching, PA, Hein, A, Ekici, AB, Beckmann, MW, Fletcher, O, Johnson, N, Silva, ID, Peto, J, Sawyer, E, Tomlinson, I, Kerin, M, Miller, N, Marmee, F, Schneeweiss, A, Sohn, C, Burwinkel, B, Guenel, P, Cordina-Duverger, E, Menegaux, F, Bojesen, SE, Nordestgaard, BG, Flyger, H, Milne, RL, Perez, JIA, Zamora, MP, Benitez, J, Anton-Culver, H, Ziogas, A, Bernstein, L, Clarke, CA, Brenner, H, Muller, H, Arndt, V, Stegmaier, C, Rahman, N, Seal, S, Turnbull, C, Renwick, A, Meindl, A, Schott, S, Bartram, CR, Schmutzler, RK, Brauch, H, Hamann, U, Ko, YD, Wang-Gohrke, S, Dork, T, Schurmann, P, Karstens, JH, Hillemanns, P, Nevanlinna, H, Heikkinen, T, Aittomaki, K, Blomqvist, C, Bogdanova, NV, Zalutsky, IV, Antonenkova, NN, Bermisheva, M, Prokovieva, D, Farahtdinova, A, Khusnutdinova, E, Lindblom, A, Margolin, S, Mannermaa, A, Kataja, V, Kosma, VM, Hartikainen, J, Chen, XQ, Beesley, J, Lambrechts, D, Zhao, H (Hui), Neven, P, Wildiers, H, Nickels, S, Flesch-Janys, D, Radice, P, Peterlongo, P, Manoukian, S, Barile, M, Couch, FJ, Olson, JE, Wang, XS, Fredericksen, Z, Giles, GG, Baglietto, L, McLean, CA, Severi, G, Offit, K, Robson, M, Gaudet, MM, Vijai, J, Alnaes, GG, Kristensen, V, Borresen-Dale, AL, John, EM, Miron, A, Winqvist, R, Pylkas, K, Jukkola-Vuorinen, A, Grip, M, Andrulis, IL, Knight, JA, Glendon, G, Mulligan, AM, Figueroa, JD, Garcia-Closas, M, Lissowska, J, Sherman, ME, Hooning, M, Martens, John, Seynaeve, Caroline, Collee, M, Hall, P, Humpreys, K, Czene, K, Liu, JJ, Cox, A, Brock, IW, Cross, SS, Reed, MWR, Ahmed, S (Shahana), Ghoussaini, M, Pharoah, PDP, Kang, D, Yoo, KY, Noh, DY, Jakubowska, A, Jaworska, K, Durda, K, Zlowocka, E, Sangrajrang, S, Gaborieau, V, Brennan, P, Mckay, J, Shen, CY, Yu, JC, Hsu, HM, Hou, MF, Orr, N, Schoemaker, M, Ashworth, A, Swerdlow, A, Trentham-Dietz, A, Newcomb, PA, Titus, L, Egan, KM, Chenevix-Trench, G, Antoniou, AC, Humphreys, MK, Morrison, J, Chang-Claude, J, Easton, DF, Dunning, AM, Truong, T, Hein, R, Maranian, M, Hopper, JL, Kapuscinski, MK, Southey, MC, Park, DJ, Schmidt, Marjanka K, Broeks, A, Hogervorst, FBL, Bueno-de-Mesquit, HB, Muir, KR, Lophatananon, A, Rattanamongkongul, S, Puttawibul, P, Fasching, PA, Hein, A, Ekici, AB, Beckmann, MW, Fletcher, O, Johnson, N, Silva, ID, Peto, J, Sawyer, E, Tomlinson, I, Kerin, M, Miller, N, Marmee, F, Schneeweiss, A, Sohn, C, Burwinkel, B, Guenel, P, Cordina-Duverger, E, Menegaux, F, Bojesen, SE, Nordestgaard, BG, Flyger, H, Milne, RL, Perez, JIA, Zamora, MP, Benitez, J, Anton-Culver, H, Ziogas, A, Bernstein, L, Clarke, CA, Brenner, H, Muller, H, Arndt, V, Stegmaier, C, Rahman, N, Seal, S, Turnbull, C, Renwick, A, Meindl, A, Schott, S, Bartram, CR, Schmutzler, RK, Brauch, H, Hamann, U, Ko, YD, Wang-Gohrke, S, Dork, T, Schurmann, P, Karstens, JH, Hillemanns, P, Nevanlinna, H, Heikkinen, T, Aittomaki, K, Blomqvist, C, Bogdanova, NV, Zalutsky, IV, Antonenkova, NN, Bermisheva, M, Prokovieva, D, Farahtdinova, A, Khusnutdinova, E, Lindblom, A, Margolin, S, Mannermaa, A, Kataja, V, Kosma, VM, Hartikainen, J, Chen, XQ, Beesley, J, Lambrechts, D, Zhao, H (Hui), Neven, P, Wildiers, H, Nickels, S, Flesch-Janys, D, Radice, P, Peterlongo, P, Manoukian, S, Barile, M, Couch, FJ, Olson, JE, Wang, XS, Fredericksen, Z, Giles, GG, Baglietto, L, McLean, CA, Severi, G, Offit, K, Robson, M, Gaudet, MM, Vijai, J, Alnaes, GG, Kristensen, V, Borresen-Dale, AL, John, EM, Miron, A, Winqvist, R, Pylkas, K, Jukkola-Vuorinen, A, Grip, M, Andrulis, IL, Knight, JA, Glendon, G, Mulligan, AM, Figueroa, JD, Garcia-Closas, M, Lissowska, J, Sherman, ME, Hooning, M, Martens, John, Seynaeve, Caroline, Collee, M, Hall, P, Humpreys, K, Czene, K, Liu, JJ, Cox, A, Brock, IW, Cross, SS, Reed, MWR, Ahmed, S (Shahana), Ghoussaini, M, Pharoah, PDP, Kang, D, Yoo, KY, Noh, DY, Jakubowska, A, Jaworska, K, Durda, K, Zlowocka, E, Sangrajrang, S, Gaborieau, V, Brennan, P, Mckay, J, Shen, CY, Yu, JC, Hsu, HM, Hou, MF, Orr, N, Schoemaker, M, Ashworth, A, Swerdlow, A, Trentham-Dietz, A, Newcomb, PA, Titus, L, Egan, KM, Chenevix-Trench, G, Antoniou, AC, Humphreys, MK, Morrison, J, Chang-Claude, J, Easton, DF, Dunning, AM, and Truong, T

Abstract

The 6q25.1 locus was first identified via a genome-wide association study (GWAS) in Chinese women and marked by single nucleotide polymorphism (SNP) rs2046210, approximately 180 Kb upstream of ESR1. There have been conflicting reports about the association of this locus with breast cancer in Europeans, and a GWAS in Europeans identified a different SNP, tagged here by rs12662670. We examined the associations of both SNPs in up to 61,689 cases and 58,822 controls from forty-four studies collaborating in the Breast Cancer Association Consortium, of which four studies were of Asian and 39 of European descent. Logistic regression was used to estimate odds ratios (OR) and 95% confidence intervals (CI). Case-only analyses were used to compare SNP effects in Estrogen Receptor positive (ER+) versus negative (ER-) tumours. Models including both SNPs were fitted to investigate whether the SNP effects were independent. Both SNPs are significantly associated with breast cancer risk in both ethnic groups. Per-allele ORs are higher in Asian than in European studies [rs2046210: OR (A/G) = 1.36 (95% CI 1.26-1.48), p = 7.6x10(-14) in Asians and 1.09 (95% CI 1.07-1.11), p = 6.8x10(-18) in Europeans. rs12662670: OR (G/T) = 1.29 (95% CI 1.19-1.41), p = 1.2x10(-9) in Asians and 1.12 (95% CI 1.08-1.17), p = 3.8x10(-9) in Europeans]. SNP rs2046210 is associated with a significantly greater risk of ER- than ER+ tumours in Europeans [OR (ER-) = 1.20 (95% CI 1.15-1.25), p = 1.8x10(-17) versus OR (ER+) = 1.07 (95% CI 1.04-1.1), p = 1.3x10(-7), p(heterogeneity) = 5.1x10(-6)]. In these Asian studies, by contrast, there is no clear evidence of a differential association by tumour receptor status. Each SNP is associated with risk after adjustment for the other SNP. These results suggest the presence of two variants at 6q25.1 each independently associated with breast cancer risk in Asians and in Europeans. Of these two, the one tagged by rs2046210 is associated with a greater risk of ER- tumours.

Published
2012

26. Abstract 137

Author

Masoumy, Mohamad, primary, Yu, JC, additional, Liu, JY, additional, Mozaffari, MS, additional, and Baban, B, additional

Published
2013
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27. Enhancement of photocatalytic activity of mesoporous TiO2 by using carbon nanotubes

Author

Yu, Y., Yu, JC, Yu, JG, Kwok, YC, Che, YK, Zhao, JC, Ding, L., Ge, WK, Wong, PK, Yu, Y., Yu, JC, Yu, JG, Kwok, YC, Che, YK, Zhao, JC, Ding, L., Ge, WK, and Wong, PK

Abstract

Titanium dioxide/carbon nanotubes (TiO2/CNTs) composites were prepared with the aid of ultrasonic irradiation. Products of different TiO2:CNTs molar ratio were characterized by X-ray diffraction (XRD), Raman spectroscopy, X-ray photoelectron spectroscopy (XPS), scanning electron microscopy (SEM), Brunauer-Emmett-Teller (BET) adsorption analysis, thermogravimetric and differential thermal analysis (TGA-DSC), photoluminescence (PL) and UV-vis spectroscopy measurements (UV-vis). The photocatalytic activity was evaluated by the degradation of acetone and by the detection of the hydroxyl radical (-OH) signals using electron paramagnetic resonance (EPR), It is found that the crystalline TiO2 is Composed of both anatase and brookite phases. The agglomerated morphology and the particle size of TiO2 in the composites change in the presence of CNTs. The CNTs in the composites are virtually all covered by TiO2. Other than an increase of the surface area, the addition of CNTs does not affect the mesoporous nature of the TiO2. Meanwhile, more hydroxyl groups are available on the surface of the composite than in the case of the pure TiO2. The higher the content of CNTs, there is more effective in the suppression of the recombination of photo-generated e(-)/h(+) pairs. However, excessive CNTs also shield the TiO2 from absorbing UV light. The optimal amount of TiO2 and CNTs is in the range of 1:0.1 and 1:0.2 (feedstock molar ratio). These samples have much more highly photocatalytic activity than P25 and TiO2/activated carbon (AC) composite. The mechanism for the enhanced photocatalytic activity of TiO2 by CNTs is proposed. (c) 2005 Elsevier B.V. All rights reserved.

Published
2005

28. Enhancement of adsorption and photocatalytic activity of TiO2 by using carbon nanotubes for the treatment of azo dye

Author

Yu, Y., Yu, JC, Chan, CY, Che, YK, Zhao, JC, Ding, L., Ge, WK, Wong, PK, Yu, Y., Yu, JC, Chan, CY, Che, YK, Zhao, JC, Ding, L., Ge, WK, and Wong, PK

Abstract

The effect of carbon nanotubes (CNTs) on the adsorption and the photocatalytic properties of TiO2 (P25) for the treatment of azo dyes, including one monoazo dye Procion Red MX-5B, and two diazo dyes Procion Yellow HE4R and Procion Red HE3B, are investigated by Brunauer-Emmett-Teller (BET) measurement, spectrophotometer, total organic carbon (TOC), high proficiency liquid chromatography (HPLC), Raman spectroscopy (Raman), photoluminescence (PL), electron paramagnetic resonance (EPR) and transmission electron microscopy (TEM) analyses. The results show that compared with activated carbon (AC), CNTs can comparatively better improve the adsorption of the dyes onto P25 due to the strong interaction between P25 and CNTs. Residual TOC in the solutions and the amount of cyanuric acid evolved after degradation both confirm that the adsorption ability of P25 is enhanced by CNTs. CNTs also facilitate the photocatalytic activity of P25 in the degradation of the three azo dyes more efficiently than AC. With PL and EPR analysis, the mechanism of the enhancement of the photocatalytic activity of P25 by CNTs is proposed. The excited e(-) in conduction band of TiO2 may migrate into CNTs, of which have special structure and the ability for e- transport. Thus, the possibility of the recombination of e(-)/h(+) pairs decreases. Meanwhile, O-2 adsorbed on the surface of CNTs may accept e(-) and form center dot O-2(-), which also leads to the formation of center dot OH in the system. Therefore, there are more radicals in the system, resulting in the quicker degradation of the dyes. (c) 2005 Elsevier B.V. All rights reserved.

Published
2005

29. Characterization of chemical species in PM2.5 and PM10 aerosols in Hong kong

Author

Ho, KF, Lee, SC, Chan, Chak Keung, Yu, JC, Chow, JC, Yao, XH, Ho, KF, Lee, SC, Chan, Chak Keung, Yu, JC, Chow, JC, and Yao, XH

Abstract

Aerosol samples for PM10 and PM2.5 were collected in wintertime from November 2000 to February 2001 at three different sampling locations in Hong Kong. PM10 and PM2.5 were collected by high-volume (hi-vol.) samplers and the concentrations of major elements, ions, organic and elemental carbons were quantified. The ratios Of PM2.5/PM10 were 0.61 and 0.78 at the PolyU campus and Kwun Tong (KT), respectively. These results indicated that the concentrations of PM2.5 contribute the majority of the PM10 fraction. The concentrations of anthropogenic species (e.g. Pb and Cu) in PM10 and PM(2.5)measured at urban areas were generally higher than at an urban background site (Hok Tsui, HT). The major fractions of sulfate at three monitoring sites are non-sea-salts (nss) sulfates. Although HT is located in coastal areas, the contribution of sea salts to sulfate in fine particles was small, indicating a substantial anthropogenic origin. The OC/EC ratios were less than 2 in PolyU and KT monitoring stations for PM10 and PM2.5. However, the OC/EC ratios were over 3 at FIT for both PM10 and PM2.5. This indicates the presence of secondary organic aerosols. Correlations between OC and EC as well as OC and sulfate in HT during both seasons were used to prove that atmospheric transport and transformation of anthropogenic organic species from northeastern area was the dominant source in winter. The chemical composition of the samples was reconstructed from the observed elemental composition. The contribution of the seven components, namely crustal matter, sea salt, ammonium, sulfate, nitrate, elemental carbon and organic matter accounted for 77-84\% of the PM 10 and PM2.5 mass in the urban area (PolyU and KT) and 74\% for Hok Tsui (HT). Sulfate, organic matter and elemental carbon are the major constituents in particles especially in PM2.5 collected at PolyU and KT. The major constituents of PM10 in HT are sea salt and sulfate. (C) 2002 Elsevier Science Ltd. All rights reserved.

Published
2003

36. Preventing chemotherapy-induced hepatitis B reactivation in breast cancer patients: a prospective comparison of prophylactic versus deferred preemptive lamivudine.

Author

Tsai SH, Dai MS, Yu JC, Ho CL, Chen YC, Wu YY, Chang PY, Kao WY, Chao TY, Tsai, Shih-Hung, Dai, Ming-Shen, Yu, Jyh-Cherng, Ho, Ching-Liang, Chen, Yeu-Chin, Wu, Yi-Ying, Chang, Ping-Ying, Kao, Woei-Yau, and Chao, Tsu-Yi

Abstract

Purpose: Prophylactic lamivudine to prevent chemotherapy-induced hepatitis B virus (HBV) reactivation has been widely adopted in hematological cancer patients. We examined the deferred preemptive strategy, upon rising viremia, in breast cancer (BC) patients based on sensitive serum HBV DNA level monitoring in a non-randomized controlled study.Patients and Methods: Baseline virological profiles before cytotoxic chemotherapy were retrospectively analyzed in historical BC and non-BC patients. A prospective cohort study, including 22 early BC patients (Group I) who were hepatitis B surface antigen (HBsAg)± and required adjuvant chemotherapy, were enrolled and had deferred preemptive use of lamivudine upon viremic surge. During the study period, another 23 BC patients, who did not participate in the above-mentioned study, received prophylactic use of lamivudine as routine practice (Group 2). Chemotherapy-induced hepatitis events and the lamivudine treatment course were compared.Results: There was no significant difference in the incidence of hepatitis during chemotherapy between these two groups. Patients in Group I had statistically significant shorter duration of lamivudine use during chemotherapy. However, once lamivudine had been initiated, the treatment course is not significantly shorter than those patients given prophylactically.Conclusions: Deferred preemptive strategy is feasible to control HBV replication and prevent its reactivation in BC patients undergoing chemotherapy. However, it may not be superior to prophylactic strategy and clinically practical. [ABSTRACT FROM AUTHOR]

Published
2011
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37. Ultrasonographic alterations associated with the dilatation of mammary ducts: feature analysis and BI-RADS assessment.

Author

Hsu HH, Yu JC, Hsu GC, Chang WC, Yu CP, Tung HJ, Tzao C, Huang GS, Hsu, Hsian-He, Yu, Jyh-Cherng, Hsu, Giu-Cheng, Chang, Wei-Chou, Yu, Cheng-Ping, Tung, Ho-Jui, Tzao, Ching, and Huang, Guo-Shu

Abstract

Objective: The purpose of this study was to analyse the lesion characteristics and the patterns of dilated ducts on ultrasonography (US) to determine the appropriateness of the Breast Imaging Reporting and Data System (BI-RADS) categories.Materials and Methods: From July 2001 to June 2006, 172 consecutive pathologically proved lesions with dilated ducts on US were reviewed retrospectively. All the lesions were classified into four types according to their US features, and in combination with the size, location, margins and number of lesions, the corresponding positive predictive values (PPVs) were obtained.Results: Of the 172 lesions, 55 (32%) were classified as type I, 68 (40%) as type II, 14 (8%) as type III and 35 (20%) as type IV. The PPVs for malignancy were 9% for type I, 13% for type II, 43% for type III and 17% for type IV. There was a significantly higher frequency of malignancy among type III lesions than among type I (43% vs 9%, respectively, P = 0.002; chi (2) test) or type II lesions (43% vs 13%, respectively, P = 0.009; chi (2) test). Lesions with a nonsubareolar location and noncircumscribed margins had a high probability of malignancy (P < 0.001 and P = 0.03, respectively).Conclusion: The four types of US classifications used in our study establish reliable references for the dilated duct patterns when stratified according to BI-RADS categories, and they clarify the indications for biopsy of these lesions. [ABSTRACT FROM AUTHOR]

Published
2010
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38. Fourier analysis of human sagittal sutures.

Author

Wu Y, Chien C, Chao YJ, Yu JC, and Williamson MA

Abstract

OBJECTIVE: To evaluate the complexity of human sagittal suture patterns and to investigate whether the suture complexity correlates with age. DESIGN: Geometric patterns of the sagittal sutures from 104 dry human skulls from the Terry Collection and 16 computed tomography images from the Bosma Collection, aged 2 months to 60 years, were digitized. The complexity of the patterns was presented by suture length, curved suture (or skull) length, and length ratio and the frequency and amplitude contents by the discrete Fourier transform (DFT) analysis. RESULTS: The suture length along the skull showed a positive correlation with age from 2 months to 10 years, reflecting the growth of the skull. The suture length ratio, R, a measure of the complexity of the suture pattern, had a similar trend to suture length (i.e., increased with age to about 10 years and leveled off afterward, accompanied by a large scatter). The major frequency from the DFT analysis indicated an age-related development in suture complexity from infants to about 10 years and no further change for individuals older than 10 years. CONCLUSIONS: Quantitative analyses of human sagittal suture using length, length ratio, and DFT indicated that there is a progressive increase in the complexity of sagittal sutural waveform with age, especially in the early ages. These findings agree with the observations from animal experiments that sagittal sutural waveform is the result of intrinsic tissue response to extrinsic forces such as those generated by the temporalis. [ABSTRACT FROM AUTHOR]

Published
2007

39. Abnormality of the DNA double-strand-break checkpoint/repair genes, ATM, BRCA1 and TP53, in breast cancer is related to tumour grade.

Author

Ding, SL, Sheu, LF, Yu, JC, Yang, TI, Chen, BF, Leu, FJ, and Shen, CY

Subjects
BREAST cancer, GENES, CARCINOGENESIS, DNA damage, CANCER education, GENETIC mutation
Abstract

The role of the DNA double-strand-break (DSB) checkpoint/repair genes, ATM, BRCA1 and TP53, in sporadic breast cancer requires clarification, since ATM and BRCA1 mutations are rare in sporadic tumours. In an attempt to explain this phenomenon, we postulated that (i) in addition to genetic deletion, abnormal expression of DSB checkpoint/repair proteins might abolish the function of these genes and (ii) there might be a combined effect of individual defective genes during breast cancer pathogenesis. Using a largely homogenous group of 74 specimens of early-onset (?35 years of age) infiltrating ductal carcinomas, we examined associations between pathological grade and genetic deletion and/or abnormal protein expression of ATM, BRCA1 and TP53. The results showed that high-grade tumours displayed a high frequency of loss of heterozygosity (LOH) at, and/or abnormal expression of, ATM, BRCA1 and TP53. Multigenetic analysis showed abnormalities in BRCA1 to be independently associated with high-grade tumours. ATM and TP53 appeared to play an assistant role, abnormalities in these genes significantly increasing the possibility of poor differentiation in tumours with abnormalities in BRCA1. Furthermore, a higher number of abnormalities (LOH or abnormal expression) in these three genes correlated with poor tumour differentiation. Thus, this study suggests that combined changes in several DSB checkpoint/repair genes belonging to a common functional pathway are associated with breast cancer pathogenesis. [ABSTRACT FROM AUTHOR]

Published
2004
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47. The semiquantitative bone scintigraphy index correlates with serum tartrate-resistant acid phosphatase activity in breast cancer patients with bone metastasis.

Author

Tsai SH, Chen CY, Ku CH, Janckila AJ, Yam LT, Yu JC, Chuang KW, Chao TY, Tsai, Shih-Hung, Chen, Ching-Yuan, Ku, Chih-Hung, Janckila, Anthony J, Yam, Lung T, Yu, Jyh-Cherng, Chuang, Kai-Wen, and Chao, Tsu-Yi

Abstract

Objective: To determine if a correlation exists between the semiquantitative bone scintigraphy index (SQBSI) and serum tartrateresistant acid phosphatase 5b (TRACP5b) activity, a novel osteoclast marker that has been shown to be useful for monitoring bone metastasis in breast cancer (BC) patients. Participants and Methods: Among patients enrolled in 2 prospective studies conducted at Tri-Service General Hospital, Taipei, Taiwan, between December 2000 and July 2002, we identified post hoc 52 patients with both BC and bone metastasis who had detailed records of clinical condition, bone scintigraphy, and concordant serum TRACP5b levels. Between January 1, 2003, and December 31, 2005, we performed bone scintigraphy and serum TRACP5b activity assays to monitor these patients, while they were treated according to clinical need. To assess clinical condition, we obtained information from patient records, such as performance status and visual analogue pain score, as well as from selected laboratory tests for tumor markers and serum TRACP5b activity. Those patients with BC and bone metastasis who had undergone whole-body bone scintigraphy and serum TRACP5b activity determination before any therapeutic intervention were designated the pretreated group (n=30). We developed our own formula for calculating SQBSI on the basis of bone scintigraphy findings. Results: A significant correlation was observed between SQBSI and serum TRACP5b activity in pretreated BC patients with bone metastasis, but the strength of the correlation lessened after treatment. No significant correlation was noted between the change in serum TRACP5b activity and the change in SQBSI in treated patients. Compared with the change in SQBSI, the change in TRACP5b activity had higher sensitivity, specificity, and positive predictive value as well as a greater likelihood ratio for reflecting the clinical scenarios of bone morbidity over time. Conclusion: As monitors of the response of bone metastasis in BC to treatment, serial determinations of serum TRACP5b activity and SQBSI were both shown to be useful by our preliminary findings. However, serum TRACP5b activity proved the better monitoring tool. If follow-up studies were conducted within 6 months, the combined use of SQBSI and TRACP5b would allow distinction of genuine disease progression from the "flare" phenomenon, in which bone metastasis can appear to progress in bone scintigraphic images although clinical symptoms improve. Larger prospective studies are needed to confirm these findings. [ABSTRACT FROM AUTHOR]

Published
2007

48. ANKRD26-related thrombocytopenia and myeloid malignancies

Author

Rogier Kersseboom, Caterina Marconi, Paula G. Heller, James B. Bussel, Patrizia Noris, Marco Seri, Karen Y. Niederhoffer, Chiara Gnan, Ginevra Biino, Daniela De Rocco, William Cohen, Rémi Favier, Allison Imahiyerobo, Françoise Boehlen, Anna Savoia, Alessandro Pecci, Carlo L. Balduini, Pamela Magini, Elisa Civaschi, Shinji Kunishima, Gian Marco Podda, Nicola Vianelli, Dorsaf Ghalloussi, Anne Auvrignon, Marie-Christine Alessi, Amy E. Geddis, Jennifer C. Yu, Paola Giordano, Akihiro Iguchi, Noris P, Favier R, Alessi MC, Geddis AE, Kunishima S, Heller PG, Giordano P, Niederhoffer KY, Bussel JB, Podda GM, Vianelli N, Kersseboom R, Pecci A, Gnan C, Marconi C, Auvrignon A, Cohen W, Yu JC, Iguchi A, Miller Imahiyerobo A, Boehlen F, Ghalloussi D, De Rocco D, Magini P, Civaschi E, Biino G, Seri M, Savoia A, Balduini CL, P., Nori, R., Favier, M. C., Alessi, A. E., Geddi, S., Kunishima, P. G., Heller, P., Giordano, K. Y., Niederhoffer, J. B., Bussel, G. M., Podda, N., Vianelli, R., Kersseboom, A., Pecci, Gnan, Chiara, C., Marconi, A., Auvrignon, W., Cohen, J. C., Yu, A., Iguchi, A., Miller Imahiyerobo, F., Boehlen, D., Ghalloussi, DE ROCCO, Daniela, P., Magini, E., Civaschi, G., Biino, M., Seri, Savoia, Anna, and C. L., Balduini

Subjects
Piastrinopenia, Leucemia, Untranslated region, Myeloid, Immunology, myeloid malignancies, medicine.disease_cause, Biochemistry, Myelogenous, Leukemia, Myelogenous, Chronic, BCR-ABL Positive, medicine, Humans, Genetic Predisposition to Disease, 5' Untranslated Regions/genetics, Myelodysplastic Syndromes/genetics, inherited thrombocytopenias, ddc:616, Family Health, Family health, Mutation, Leukemia, Myelogenous, Chronic, BCR-ABL Positive/genetics, business.industry, Genetic Predisposition to Disease/genetics, Myelodysplastic syndromes, Nuclear Proteins, Cancer, Cell Biology, Hematology, medicine.disease, Thrombocytopenia, Nuclear Proteins/genetics, Leukemia, medicine.anatomical_structure, Leukemia, Myeloid, Myelodysplastic Syndromes, Acute Disease, Thrombocytopenia/genetics, Cancer research, Intercellular Signaling Peptides and Proteins, 5' Untranslated Regions, business, Leukemia, Myeloid/genetics
Abstract

To the editor: Since the discovery that mutations in the 5′ untranslated region (UTR) of ANKRD26 are responsible for an autosomal-dominant form of thrombocytopenia ( ANKRD26 -RT),[1][1] 21 affected families were reported.[2][2] A study analyzing this series of patients suggested that ANKRD26 -RT

Published
2013

49. Comparison of clinical outcomes and cost-utility between unilateral biportal endoscopic discectomy and percutaneous endoscopic interlaminar discectomy for single-level lumbar disc herniation: a retrospective matched controlled study.

Author

Yang YF, Yu JC, Zhu ZW, Li YW, Xiao Z, Zhi CG, Xie Z, Kang YJ, Li J, and Zhou B

Subjects
Humans, Retrospective Studies, Male, Female, Adult, Middle Aged, Treatment Outcome, Quality-Adjusted Life Years, Quality of Life, Cost-Benefit Analysis, Intervertebral Disc Displacement surgery, Intervertebral Disc Displacement economics, Lumbar Vertebrae surgery, Endoscopy economics, Endoscopy methods, Diskectomy, Percutaneous methods, Diskectomy, Percutaneous economics
Abstract

Objective: This study aimed to compare the efficacy and cost-utility of unilateral biportal endoscopy (UBE) versus percutaneous endoscopic interlaminar discectomy (PEID) for the treatment of single-level lumbar disc herniation (LDH)., Methods: A retrospective analysis was conducted on 99 patients who underwent either UBE (n = 33) or PEID (n = 66) between July 2022 and December 2023 at the Second Xiangya Hospital. Patients were matched 1:2 based on age, sex, and surgery level to ensure comparability. Clinical outcomes were assessed using Visual Analog Scale (VAS), European Quality of Life-5 Dimensions (EQ-5D), and Oswestry Disability Index (ODI) scores, with quality-adjusted life years (QALYs) calculated for cost-utility analysis. Hospitalization costs were analyzed, and the incremental cost-utility ratio (ICER) was determined., Results: Both UBE and PEID groups demonstrated significant postoperative improvements in VAS, EQ-5D, and ODI scores (p < 0.05). The operative time, blood loss and nursing cost were significantly higher for UBE compared to PEID (p < 0.05). UBE has higher gained QALY and overall costs, but the differences are not statistically significant (p = 0.643 for QALY, p = 0.327 for costs). The Incremental Cost-Effectiveness Ratio (ICER) for UBE compared to PEID was calculated to be $354.5 per QALY gained, indicating that for each additional QALY gained through UBE, an additional cost of $354.5 is incurred compared to PEID., Conclusion: In our single-center study conducted in China, both the UBE and PEID procedures have demonstrated comparable short-term efficacy in alleviating pain and improving functional ability in patients with single-level LDH. UBE procedure demonstrates greater cost-utility than the PEID procedure in cost-utility analysis, despite its longer operative time, higher nursing costs and greater blood loss., Competing Interests: Declarations Ethical approval The study protocol was conducted retrospectively from data obtained for clinical purposes, which was approved by the Institutional Review Board of Second Xiangya Hospital of Central South University, Hunan, China. Consent for publication Not applicable. Informed consent Written informed consent was obtained from each patient for publication of this study. Statement of human and animal rights There are no experimental procedures involving animals or humans and statement of human or animal rights is not applicable. Competing interests The authors declare no competing interests., (© 2024. The Author(s).)

Published
2024
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