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Common breast cancer susceptibility alleles and the risk of breast cancer for BRCA1 and BRCA2 mutation carriers: implications for risk prediction

(2010) CANCER RESEARCH. 70(23). p.9742-9754
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Abstract
The known breast cancer susceptibility polymorphisms in FGFR2, TNRC9/TOX3, MAP3K1, LSP1, and 2q35 confer increased risks of breast cancer for BRCA1 or BRCA2 mutation carriers. We evaluated the associations of 3 additional single nucleotide polymorphisms (SNPs), rs4973768 in SLC4A7/NEK10, rs6504950 in STXBP4/COX11, and rs10941679 at 5p12, and reanalyzed the previous associations using additional carriers in a sample of 12,525 BRCA1 and 7,409 BRCA2 carriers. Additionally, we investigated potential interactions between SNPs and assessed the implications for risk prediction. The minor alleles of rs4973768 and rs10941679 were associated with increased breast cancer risk for BRCA2 carriers (per-allele HR - 1.10, 95% CI: 1.03-1.18, P - 0.006 and HR - 1.09, 95% CI: 1.01-1.19, P = 0.03, respectively). Neither SNP was associated with breast cancer risk for BRCA1 carriers, and rs6504950 was not associated with breast cancer for either BRCA1 or BRCA2 carriers. Of the 9 polymorphisms investigated, 7 were associated with breast cancer for BRCA2 carriers (FGFR2, TOX3, MAP3K1, LSP1, 2q35, SLC4A7, 5p12, P 7 = 10 x (11) - 0.03), but only TOX3 and 2q35 were associated with the risk for BRCA1 carriers (P = 0.0049, 0.03, respectively). All risk-associated polymorphisms appear to interact multiplicatively on breast cancer risk for mutation carriers. Based on the joint genotype distribution of the 7 risk-associated SNPs in BRCA2 mutation carriers, the 5% of BRCA2 carriers at highest risk (i.e., between 95th and 100th percentiles) were predicted to have a probability between 80% and 96% of developing breast cancer by age 80, compared with 42%
Keywords
ESTROGEN-RECEPTOR, GENOME-WIDE ASSOCIATION, VARIANTS, LOCI

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MLA
Antoniou, Antonio C, Jonathan Beesley, Lesley McGuffog, et al. “Common Breast Cancer Susceptibility Alleles and the Risk of Breast Cancer for BRCA1 and BRCA2 Mutation Carriers: Implications for Risk Prediction.” CANCER RESEARCH 70.23 (2010): 9742–9754. Print.
APA
Antoniou, A. C., Beesley, J., McGuffog, L., Sinilnikova, O. M., Healey, S., Neuhausen, S. L., Ding, Y. C., et al. (2010). Common breast cancer susceptibility alleles and the risk of breast cancer for BRCA1 and BRCA2 mutation carriers: implications for risk prediction. CANCER RESEARCH, 70(23), 9742–9754.
Chicago author-date
Antoniou, Antonio C, Jonathan Beesley, Lesley McGuffog, Olga M Sinilnikova, Sue Healey, Susan L Neuhausen, Yuan Chung Ding, et al. 2010. “Common Breast Cancer Susceptibility Alleles and the Risk of Breast Cancer for BRCA1 and BRCA2 Mutation Carriers: Implications for Risk Prediction.” Cancer Research 70 (23): 9742–9754.
Chicago author-date (all authors)
Antoniou, Antonio C, Jonathan Beesley, Lesley McGuffog, Olga M Sinilnikova, Sue Healey, Susan L Neuhausen, Yuan Chung Ding, Timothy R Rebbeck, Jeffrey N Weitzel, Henry T Lynch, Claudine Isaacs, Patricia A Ganz, Gail Tomlinson, Olufunmilayo I Olopade, Fergus J Couch, Xianshu S Wang, Noralane M Lindor, Vernon S Pankratz, Paolo Radice, Siranoush Manoukian, Bernard Peissel, Daniela Zaffaroni, Monica Barile, Alessandra Viel, Anna Allavena, Valentina Dall’Olio, Paolo Peterlongo, Csilla I Szabo, Michal Zikan, Kathleen Claes, Bruce Poppe, Lenka Foretova, Phuong L Mai, Mark H Greene, Gad Rennert, Flavio Lejbkowicz, Gord Glendon, Hilmi Ozcelik, Irene L Andrulis, Mads Thomassen, Anne-Marie Gerdes, Lone Sunde, Dorthe Cruger, Uffe Birk Jensen, Maria Caligo, Eitan Friedman, Bella Kaufman, Yael Laitman, Roni Milgrom, Maya Dubrovsky, Shimrit Cohen, Ake Borg, Helena Jernstrom, Annika Lindblom, Johanna Rantala, Marie Stenmark-Askmalm, Beatrice Melin, Kate Nathanson, Susan Domchek, Ania Jakubowska, Jan Lubinski, Tomasz Huzarski, Ana Osorio, Adriana Lasa, Mercedes Duran, Maria-Isabel Tejada, Javier Godino, Javier Benitez, Ute Hamann, Mieke Kriege, Nicoline Hoogerbrugge, Rob B van der Luijt, Christi J van Asperen, Peter Devilee, EJ Meijers-Heijboer, Marinus J Blok, Cora M Aalfs, Frans Hogervorst, Matti Rookus, Margaret Cook, Claire Oliver, Debra Frost, Don Conroy, D Gareth Evans, Fiona Lalloo, Gabriella Pichert, Rosemarie Davidson, Trevor Cole, Jackie Cook, Joan Paterson, Shirley Hodgson, Patrick J Morrison, Mary E Porteous, Lisa Walker, John M Kennedy, Huw Dorkins, Susan Peock, Andrew K Godwin, Dominique Stoppa-Lyonnet, Antoine de Pauw, Sylvie Mazoyer, Valerie Bonadona, Christine Lasset, Helene Dreyfus, Dominique Leroux, Agnes Hardouin, Pascaline Berthet, Laurence Faivre, Catherine Loustalot, Tetsuro Noguchi, Hagay Sobol, Etienne Rouleau, Catherine Nogues, Marc Frenay, Laurence Venat-Bouvet, John L Hopper, Mary B Daly, Mary B Terry, Esther M John, Saundra S Buys, Yosuf Yassin, Alexander Miron, David Goldgar, Christiane F Singer, Anne-Catharina Dressler, Daphne Gschwantler-Kaulich, Georg Pfeiler, Thomas VO Hansen, Lars Jnson, Bjarni A Agnarsson, Tomas Kirchhoff, Kenneth Offit, Vincent Devlin, Ana Dutra-Clarke, Marion Piedmonte, Gustavo C Rodriguez, Katie Wakeley, John F Boggess, Jack Basil, Peter E Schwartz, Stefanie V Blank, Amanda E Toland, Marco Montagna, Cynzia Casella, Evgeni Imyanitov, Laima Tihomirova, Ignacio Blanco, Conxi Lazaro, Suzanne J Ramus, Lara Sucheston, Beth Y Karlan, Jenny Gross, Rita Schmutzler, Barbara Wappenschmidt, Christoph Engel, Alfons Meindl, Magdalena Lochmann, Norbert Arnold, Simone Heidemann, Raymonda Varon-Mateeva, Dieter Niederacher, Christian Sutter, Helmut Deissler, Dorothea Gadzicki, Sabine Preisler-Adams, Karin Kast, Ines Schonbuchner, Trinidad Caldes, Miqguel de la Hoya, Kristiina Aittomaki, Heli Nevanlinna, Jacques Simard, Amana B Spurdle, Helene Holland, Xiaoqing Chen, Radka Platte, Georgia Chenevix-Trench, and Douglas F Easton. 2010. “Common Breast Cancer Susceptibility Alleles and the Risk of Breast Cancer for BRCA1 and BRCA2 Mutation Carriers: Implications for Risk Prediction.” Cancer Research 70 (23): 9742–9754.
Vancouver
1.
Antoniou AC, Beesley J, McGuffog L, Sinilnikova OM, Healey S, Neuhausen SL, et al. Common breast cancer susceptibility alleles and the risk of breast cancer for BRCA1 and BRCA2 mutation carriers: implications for risk prediction. CANCER RESEARCH. 2010;70(23):9742–54.
IEEE
[1]
A. C. Antoniou et al., “Common breast cancer susceptibility alleles and the risk of breast cancer for BRCA1 and BRCA2 mutation carriers: implications for risk prediction,” CANCER RESEARCH, vol. 70, no. 23, pp. 9742–9754, 2010.
@article{1165791,
  abstract     = {The known breast cancer susceptibility polymorphisms in FGFR2, TNRC9/TOX3, MAP3K1, LSP1, and 2q35 confer increased risks of breast cancer for BRCA1 or BRCA2 mutation carriers. We evaluated the associations of 3 additional single nucleotide polymorphisms (SNPs), rs4973768 in SLC4A7/NEK10, rs6504950 in STXBP4/COX11, and rs10941679 at 5p12, and reanalyzed the previous associations using additional carriers in a sample of 12,525 BRCA1 and 7,409 BRCA2 carriers. Additionally, we investigated potential interactions between SNPs and assessed the implications for risk prediction. The minor alleles of rs4973768 and rs10941679 were associated with increased breast cancer risk for BRCA2 carriers (per-allele HR - 1.10, 95% CI: 1.03-1.18, P - 0.006 and HR - 1.09, 95% CI: 1.01-1.19, P = 0.03, respectively). Neither SNP was associated with breast cancer risk for BRCA1 carriers, and rs6504950 was not associated with breast cancer for either BRCA1 or BRCA2 carriers. Of the 9 polymorphisms investigated, 7 were associated with breast cancer for BRCA2 carriers (FGFR2, TOX3, MAP3K1, LSP1, 2q35, SLC4A7, 5p12, P 7 = 10 x (11) - 0.03), but only TOX3 and 2q35 were associated with the risk for BRCA1 carriers (P = 0.0049, 0.03, respectively). All risk-associated polymorphisms appear to interact multiplicatively on breast cancer risk for mutation carriers. Based on the joint genotype distribution of the 7 risk-associated SNPs in BRCA2 mutation carriers, the 5% of BRCA2 carriers at highest risk (i.e., between 95th and 100th percentiles) were predicted to have a probability between 80% and 96% of developing breast cancer by age 80, compared with 42%},
  author       = {Antoniou, Antonio C and Beesley, Jonathan and McGuffog, Lesley and Sinilnikova, Olga M and Healey, Sue and Neuhausen, Susan L and Ding, Yuan Chung and Rebbeck, Timothy R and Weitzel, Jeffrey N and Lynch, Henry T and Isaacs, Claudine and Ganz, Patricia A and Tomlinson, Gail and Olopade, Olufunmilayo I and Couch, Fergus J and Wang, Xianshu S and Lindor, Noralane M and Pankratz, Vernon S and Radice, Paolo and Manoukian, Siranoush and Peissel, Bernard and Zaffaroni, Daniela and Barile, Monica and Viel, Alessandra and Allavena, Anna and Dall'Olio, Valentina and Peterlongo, Paolo and Szabo, Csilla I and Zikan, Michal and Claes, Kathleen and Poppe, Bruce and Foretova, Lenka and Mai, Phuong L and Greene, Mark H and Rennert, Gad and Lejbkowicz, Flavio and Glendon, Gord and Ozcelik, Hilmi and Andrulis, Irene L and Thomassen, Mads and Gerdes, Anne-Marie and Sunde, Lone and Cruger, Dorthe and Jensen, Uffe Birk and Caligo, Maria and Friedman, Eitan and Kaufman, Bella and Laitman, Yael and Milgrom, Roni and Dubrovsky, Maya and Cohen, Shimrit and Borg, Ake and Jernstrom, Helena and Lindblom, Annika and Rantala, Johanna and Stenmark-Askmalm, Marie and Melin, Beatrice and Nathanson, Kate and Domchek, Susan and Jakubowska, Ania and Lubinski, Jan and Huzarski, Tomasz and Osorio, Ana and Lasa, Adriana and Duran, Mercedes and Tejada, Maria-Isabel and Godino, Javier and Benitez, Javier and Hamann, Ute and Kriege, Mieke and Hoogerbrugge, Nicoline and van der Luijt, Rob B and van Asperen, Christi J and Devilee, Peter and Meijers-Heijboer, EJ and Blok, Marinus J and Aalfs, Cora M and Hogervorst, Frans and Rookus, Matti and Cook, Margaret and Oliver, Claire and Frost, Debra and Conroy, Don  and Evans, D Gareth and Lalloo, Fiona and Pichert, Gabriella and Davidson, Rosemarie and Cole, Trevor and Cook, Jackie and Paterson, Joan and Hodgson, Shirley  and Morrison, Patrick J and Porteous, Mary E and Walker, Lisa and Kennedy, John M and Dorkins, Huw and Peock, Susan and Godwin, Andrew K and Stoppa-Lyonnet, Dominique and de Pauw, Antoine and Mazoyer, Sylvie and Bonadona, Valerie and Lasset, Christine and Dreyfus, Helene and Leroux, Dominique and Hardouin, Agnes and Berthet, Pascaline and Faivre, Laurence and Loustalot, Catherine and Noguchi, Tetsuro and Sobol, Hagay and Rouleau, Etienne and Nogues, Catherine and Frenay, Marc and Venat-Bouvet, Laurence and Hopper, John L and Daly, Mary B and Terry, Mary B and John, Esther M and Buys, Saundra S and Yassin, Yosuf and Miron, Alexander and Goldgar, David and Singer, Christiane F and Dressler, Anne-Catharina and Gschwantler-Kaulich, Daphne and Pfeiler, Georg and Hansen, Thomas VO and Jnson, Lars and Agnarsson, Bjarni A and Kirchhoff, Tomas and Offit, Kenneth and Devlin, Vincent and Dutra-Clarke, Ana and Piedmonte, Marion and Rodriguez, Gustavo C and Wakeley, Katie and Boggess, John F and Basil, Jack and Schwartz, Peter E and Blank, Stefanie V and Toland, Amanda E and Montagna, Marco and Casella, Cynzia and Imyanitov, Evgeni and Tihomirova, Laima and Blanco, Ignacio and Lazaro, Conxi and Ramus, Suzanne J and Sucheston, Lara and Karlan, Beth Y and Gross, Jenny and Schmutzler, Rita and Wappenschmidt, Barbara and Engel, Christoph and Meindl, Alfons and Lochmann, Magdalena and Arnold, Norbert and Heidemann, Simone and Varon-Mateeva, Raymonda and Niederacher, Dieter and Sutter, Christian and Deissler, Helmut and Gadzicki, Dorothea and Preisler-Adams, Sabine and Kast, Karin and Schonbuchner, Ines and Caldes, Trinidad and de la Hoya, Miqguel and Aittomaki, Kristiina and Nevanlinna, Heli and Simard, Jacques and Spurdle, Amana B and Holland, Helene and Chen, Xiaoqing  and Platte, Radka and Chenevix-Trench, Georgia and Easton, Douglas F},
  issn         = {0008-5472},
  journal      = {CANCER RESEARCH},
  keywords     = {ESTROGEN-RECEPTOR,GENOME-WIDE ASSOCIATION,VARIANTS,LOCI},
  language     = {eng},
  number       = {23},
  pages        = {9742--9754},
  title        = {Common breast cancer susceptibility alleles and the risk of breast cancer for BRCA1 and BRCA2 mutation carriers: implications for risk prediction},
  url          = {http://dx.doi.org/10.1158/0008-5472.CAN-10-1907},
  volume       = {70},
  year         = {2010},
}

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