Cox, David G., Simard, Jacques ORCID: 0000-0001-6906-3390, Sinnett, Daniel, Hamdi, Yosr ORCID: 0000-0002-2815-1834, Soucy, Penny, Ouimet, Manon, Barjhoux, Laure, Verny-Pierre, Carole, McGuffog, Lesley, Healey, Sue, Szabo, Csilla, Greene, Mark H., Mai, Phuong L., Andrulis, Irene L., Thomassen, Mads, Gerdes, Anne-Marie ORCID: 0000-0002-0328-3320, Caligo, Maria A., Friedman, Eitan, Laitman, Yael, Kaufman, Bella, Paluch, Shani S., Borg, Ake, Karlsson, Per, Askmalm, Marie Stenmark, Bustinza, Gisela Barbany, Nathanson, Katherine L., Domchek, Susan M., Rebbeck, Timothy R., Benitez, Javier, Hamann, Ute, Rookus, Matti A., van den Ouweland, Ans M. W., Ausems, Margreet G. E. M., Aalfs, Cora M., van Asperen, Christi J., Devilee, Peter, Gille, Hans J. J. P., Peock, Susan, Frost, Debra, Evans, D. Gareth, Eeles, Ros, Izatt, Louise, Adlard, Julian ORCID: 0000-0002-1693-0435, Paterson, Joan, Eason, Jacqueline, Godwin, Andrew K., Remon, Marie-Alice, Moncoutier, Virginie, Gauthier-Villars, Marion, Lasset, Christine, Giraud, Sophie, Hardouin, Agnes, Berthet, Pascaline, Sobol, Hagay, Eisinger, Francois ORCID: 0000-0002-8794-0681, de Paillerets, Brigitte Bressac, Caron, Olivier, Delnatte, Capucine, Goldgar, David, Miron, Alex, Ozcelik, Hilmi, Buys, Saundra, Southey, Melissa C., Terry, Mary Beth, Singer, Christian F., Dressler, Anne-Catharina, Tea, Muy-Kheng, Hansen, Thomas V. O., Johannsson, Oskar, Piedmonte, Marion, Rodriguez, Gustavo C., Basil, Jack B., Blank, Stephanie, Toland, Amanda E., Montagna, Marco, Isaacs, Claudine, Blanco, Ignacio ORCID: 0000-0002-7414-7481, Gayther, Simon A., Moysich, Kirsten B., Schmutzler, Rita K., Wappenschmidt, Barbara, Engel, Christoph ORCID: 0000-0002-7247-282X, Meindl, Alfons, Ditsch, Nina, Arnold, Norbert ORCID: 0000-0003-4523-8808, Niederacher, Dieter, Sutter, Christian, Gadzicki, Dorothea, Fiebig, Britta, Caldes, Trinidad, Laframboise, Rachel, Nevanlinna, Heli ORCID: 0000-0002-0916-2976, Chen, Xiaoqing, Beesley, Jonathan ORCID: 0000-0003-1942-325X, Spurdle, Amanda B., Neuhausen, Susan L., Ding, Yuan C., Couch, Fergus J., Wang, Xianshu, Peterlongo, Paolo ORCID: 0000-0001-6951-6855, Manoukian, Siranoush, Bernard, Loris, Radice, Paolo ORCID: 0000-0001-6298-4111, Easton, Douglas F., Chenevix-Trench, Georgia ORCID: 0000-0002-1878-2587, Antoniou, Antonis C., Stoppa-Lyonnet, Dominique, Mazoyer, Sylvie ORCID: 0000-0002-2135-0160 and Sinilnikova, Olga M. (2011). Common variants of the BRCA1 wild-type allele modify the risk of breast cancer in BRCA1 mutation carriers. Hum. Mol. Genet., 20 (23). S. 4732 - 4748. OXFORD: OXFORD UNIV PRESS. ISSN 1460-2083

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Abstract

Mutations in the BRCA1 gene substantially increase a woman's lifetime risk of breast cancer. However, there is great variation in this increase in risk with several genetic and non-genetic modifiers identified. The BRCA1 protein plays a central role in DNA repair, a mechanism that is particularly instrumental in safeguarding cells against tumorigenesis. We hypothesized that polymorphisms that alter the expression and/or function of BRCA1 carried on the wild-type (non-mutated) copy of the BRCA1 gene would modify the risk of breast cancer in carriers of BRCA1 mutations. A total of 9874 BRCA1 mutation carriers were available in the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA) for haplotype analyses of BRCA1. Women carrying the rare allele of single nucleotide polymorphism rs16942 on the wild-type copy of BRCA1 were at decreased risk of breast cancer (hazard ratio 0.86, 95% confidence interval 0.77-0.95, P = 0.003). Promoter in vitro assays of the major BRCA1 haplotypes showed that common polymorphisms in the regulatory region alter its activity and that this effect may be attributed to the differential binding affinity of nuclear proteins. In conclusion, variants on the wild-type copy of BRCA1 modify risk of breast cancer among carriers of BRCA1 mutations, possibly by altering the efficiency of BRCA1 transcription.

Item Type: Journal Article
Creators:
CreatorsEmailORCIDORCID Put Code
Cox, David G.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Simard, JacquesUNSPECIFIEDorcid.org/0000-0001-6906-3390UNSPECIFIED
Sinnett, DanielUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Hamdi, YosrUNSPECIFIEDorcid.org/0000-0002-2815-1834UNSPECIFIED
Soucy, PennyUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Ouimet, ManonUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Barjhoux, LaureUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Verny-Pierre, CaroleUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
McGuffog, LesleyUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Healey, SueUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Szabo, CsillaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Greene, Mark H.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Mai, Phuong L.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Andrulis, Irene L.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Thomassen, MadsUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Gerdes, Anne-MarieUNSPECIFIEDorcid.org/0000-0002-0328-3320UNSPECIFIED
Caligo, Maria A.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Friedman, EitanUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Laitman, YaelUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Kaufman, BellaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Paluch, Shani S.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Borg, AkeUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Karlsson, PerUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Askmalm, Marie StenmarkUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Bustinza, Gisela BarbanyUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Nathanson, Katherine L.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Domchek, Susan M.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Rebbeck, Timothy R.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Benitez, JavierUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Hamann, UteUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Rookus, Matti A.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
van den Ouweland, Ans M. W.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Ausems, Margreet G. E. M.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Aalfs, Cora M.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
van Asperen, Christi J.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Devilee, PeterUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Gille, Hans J. J. P.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Peock, SusanUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Frost, DebraUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Evans, D. GarethUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Eeles, RosUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Izatt, LouiseUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Adlard, JulianUNSPECIFIEDorcid.org/0000-0002-1693-0435UNSPECIFIED
Paterson, JoanUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Eason, JacquelineUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Godwin, Andrew K.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Remon, Marie-AliceUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Moncoutier, VirginieUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Gauthier-Villars, MarionUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Lasset, ChristineUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Giraud, SophieUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Hardouin, AgnesUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Berthet, PascalineUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Sobol, HagayUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Eisinger, FrancoisUNSPECIFIEDorcid.org/0000-0002-8794-0681UNSPECIFIED
de Paillerets, Brigitte BressacUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Caron, OlivierUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Delnatte, CapucineUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Goldgar, DavidUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Miron, AlexUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Ozcelik, HilmiUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Buys, SaundraUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Southey, Melissa C.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Terry, Mary BethUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Singer, Christian F.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Dressler, Anne-CatharinaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Tea, Muy-KhengUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Hansen, Thomas V. O.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Johannsson, OskarUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Piedmonte, MarionUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Rodriguez, Gustavo C.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Basil, Jack B.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Blank, StephanieUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Toland, Amanda E.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Montagna, MarcoUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Isaacs, ClaudineUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Blanco, IgnacioUNSPECIFIEDorcid.org/0000-0002-7414-7481UNSPECIFIED
Gayther, Simon A.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Moysich, Kirsten B.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Schmutzler, Rita K.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Wappenschmidt, BarbaraUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Engel, ChristophUNSPECIFIEDorcid.org/0000-0002-7247-282XUNSPECIFIED
Meindl, AlfonsUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Ditsch, NinaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Arnold, NorbertUNSPECIFIEDorcid.org/0000-0003-4523-8808UNSPECIFIED
Niederacher, DieterUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Sutter, ChristianUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Gadzicki, DorotheaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Fiebig, BrittaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Caldes, TrinidadUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Laframboise, RachelUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Nevanlinna, HeliUNSPECIFIEDorcid.org/0000-0002-0916-2976UNSPECIFIED
Chen, XiaoqingUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Beesley, JonathanUNSPECIFIEDorcid.org/0000-0003-1942-325XUNSPECIFIED
Spurdle, Amanda B.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Neuhausen, Susan L.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Ding, Yuan C.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Couch, Fergus J.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Wang, XianshuUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Peterlongo, PaoloUNSPECIFIEDorcid.org/0000-0001-6951-6855UNSPECIFIED
Manoukian, SiranoushUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Bernard, LorisUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Radice, PaoloUNSPECIFIEDorcid.org/0000-0001-6298-4111UNSPECIFIED
Easton, Douglas F.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Chenevix-Trench, GeorgiaUNSPECIFIEDorcid.org/0000-0002-1878-2587UNSPECIFIED
Antoniou, Antonis C.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Stoppa-Lyonnet, DominiqueUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Mazoyer, SylvieUNSPECIFIEDorcid.org/0000-0002-2135-0160UNSPECIFIED
Sinilnikova, Olga M.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
URN: urn:nbn:de:hbz:38-484824
DOI: 10.1093/hmg/ddr388
Journal or Publication Title: Hum. Mol. Genet.
Volume: 20
Number: 23
Page Range: S. 4732 - 4748
Date: 2011
Publisher: OXFORD UNIV PRESS
Place of Publication: OXFORD
ISSN: 1460-2083
Language: English
Faculty: Unspecified
Divisions: Unspecified
Subjects: no entry
Uncontrolled Keywords:
KeywordsLanguage
GENE-EXPRESSION; OVARIAN-CANCER; MUTAGEN SENSITIVITY; CHROMOSOMAL RADIOSENSITIVITY; SUSCEPTIBILITY; PREDISPOSITION; TRANSCRIPTION; ASSOCIATION; LYMPHOCYTES; IMBALANCEMultiple languages
Biochemistry & Molecular Biology; Genetics & HeredityMultiple languages
URI: http://kups.ub.uni-koeln.de/id/eprint/48482

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