Genome-Wide Association Study in BRCA1 Mutation Carriers Identifies Novel Loci Associated with Breast and Ovarian Cancer Risk

doi:10.1371/journal.pgen.1003212

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Genome-Wide Association Study in BRCA1 Mutation Carriers Identifies Novel Loci Associated with Breast and Ovarian Cancer Risk

Couch, Fergus J. (författare)

Wang, Xianshu (författare)

McGuffog, Lesley (författare)

(utgivare)

2013
2013
Engelska.
Ingår i: PLOS Genetics. - 1553-7390. ; 9:3, e1003212

swepub:Mat__t

Abstract Ämnesord

Stäng

Two single nucleotide polymorphisms (SNPs) at 6q25.1, near the ESR1 gene, have been implicated in the susceptibility to breast cancer for Asian (rs2046210) and European women (rs9397435). A genome-wide association study in Europeans identified two further breast cancer susceptibility variants: rs11249433 at 1p11.2 and rs999737 in RAD51L1 at 14q24.1. Although previously identified breast cancer susceptibility variants have been shown to be associated with breast cancer risk for BRCA1 and BRCA2 mutation carriers, the involvement of these SNPs to breast cancer susceptibility in mutation carriers is currently unknown. To address this, we genotyped these SNPs in BRCA1 and BRCA2 mutation carriers from 42 studies from the Consortium of Investigators of Modifiers of BRCA1/2. In the analysis of 14 123 BRCA1 and 8053 BRCA2 mutation carriers of European ancestry, the 6q25.1 SNPs (r(2) = 0.14) were independently associated with the risk of breast cancer for BRCA1 mutation carriers [ hazard ratio (HR) = 1.17, 95% confidence interval (CI): 1.11-1.23, P-trend = 4.5 x 10(-9) for rs2046210; HR = 1.28, 95% CI: 1.18-1.40, P-trend = 1.3 x 10(-8) for rs9397435], but only rs9397435 was associated with the risk for BRCA2 carriers (HR = 1.14, 95% CI: 1.01-1.28, P-trend = 0.031). SNP rs11249433 (1p11.2) was associated with the risk of breast cancer for BRCA2 mutation carriers (HR = 1.09, 95% CI: 1.02-1.17, P-trend = 0.015), but was not associated with breast cancer risk for BRCA1 mutation carriers (HR = 0.97, 95% CI: 0.92-1.02, P-trend = 0.20). SNP rs999737 (RAD51L1) was not associated with breast cancer risk for either BRCA1 or BRCA2 mutation carriers (P-trend = 0.27 and 0.30, respectively). The identification of SNPs at 6q25.1 associated with breast cancer risk for BRCA1 mutation carriers will lead to a better understanding of the biology of tumour development in these women.

Ämnesord

MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Medical Genetics (hsv//eng)

Nyckelord

Genetic Predisposition to Disease
Female
Pair 6
Pair 1
Human
Chromosomes
Breast Neoplasms
BRCA2 Protein
BRCA1 Protein
Alleles
Adult
Aged
Heterozygote
Humans
Middle Aged
Mutation
Polymorphism
Single Nucleotide
Risk Factors
MEDICINE

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Av författaren/redakt...: Couch, Fergus J.; Wang, Xianshu; McGuffog, Lesley; Lee, Andrew; Olswold, Curtis; Kuchenbaecker, K ...; visa fler...; Soucy, Penny; Fredericksen, Za ...; Barrowdale, Dani ...; Dennis, Joe; Gaudet, Mia M.; Dicks, Ed; Kosel, Matthew; Healey, Sue; Sinilnikova, Olg ...; Lee, Adam; Bacot, Francois; Vincent, Daniel; Hogervorst, Fran ...; Peock, Susan; Stoppa-Lyonnet, ...; Jakubowska, Anna; Radice, Paolo; Schmutzler, Rita ...; Domchek, Susan M ...; Piedmonte, Mario ...; Singer, Christia ...; Friedman, Eitan; Thomassen, Mads; Hansen, Thomas V ...; Neuhausen, Susan ...; Szabo, Csilla I.; Blanco, Ignacio; Greene, Mark H.; Karlan, Beth Y.; Garber, Judy; Phelan, Catherin ...; Weitzel, Jeffrey ...; Montagna, Marco; Olah, Edith; Andrulis, Irene ...; Godwin, Andrew K ...; Yannoukakos, Dra ...; Goldgar, David E ...; Caldes, Trinidad; Nevanlinna, Heli; Osorio, Ana; Terry, Mary Beth; Daly, Mary B.; van Rensburg, El ...; Hamann, Ute; Ramus, Susan J.; Toland, Amanda E ...; Caligo, Maria A.; Olopade, Olufunm ...; Tung, Nadine; Claes, Kathleen; Beattie, Mary S.; Southey, Melissa ...; Imyanitov, Evgen ...; Tischkowitz, Mar ...; Janavicius, Ramu ...; John, Esther M.; Kwong, Ava; Diez, Orland; Balmana, Judith; Barkardottir, Ro ...; Arun, Banu K.; Rennert, Gad; Teo, Soo-Hwang; Ganz, Patricia A ...; Campbell, Ian; van der Hout, An ...; van Deurzen, Car ...; Seynaeve, Caroli ...; Garcia, Encarna ...; van Leeuwen, Flo ...; Meijers-Heijboer ...; Gille, Johannes ...; Ausems, Margreet ...; Blok, Marinus J.; Ligtenberg, Marj ...; Rookus, Matti A.; Devilee, Peter; Verhoef, Senno; van Os, Theo A. ...; Wijnen, Juul T.; Frost, Debra; Ellis, Steve; Fineberg, Elena; Platte, Radka; Evans, D. Gareth; Izatt, Louise; Eeles, Rosalind ...; Adlard, Julian; Eccles, Diana M.; Cook, Jackie; Brewer, Carole; Douglas, Fiona; Hodgson, Shirley; Morrison, Patric ...; Side, Lucy E.; Donaldson, Alan; Houghton, Cather ...; Rogers, Mark T.; Dorkins, Huw; Eason, Jacquelin ...; Gregory, Helen; McCann, Emma; Murray, Alex; Calender, Alain; Hardouin, Agnes; Berthet, Pascali ...; Delnatte, Capuci ...; Nogues, Catherin ...; Lasset, Christin ...; Houdayer, Claude; Leroux, Dominiqu ...; Rouleau, Etienne; Prieur, Fabienne; Damiola, Frances ...; Sobol, Hagay; Coupier, Isabell ...; Venat-Bouvet, La ...; Castera, Laurent; Gauthier-Villars ...; Leone, Melanie; Pujol, Pascal; Mazoyer, Sylvie; Bignon, Yves-Jea ...; Zlowocka-Perlows ...; Gronwald, Jacek; Lubinski, Jan; Durda, Katarzyna; Jaworska, Katarz ...; Huzarski, Tomasz; Spurdle, Amanda ...; Viel, Alessandra; Peissel, Bernard; Bonanni, Bernard ...; Melloni, Giulia; Ottini, Laura; Papi, Laura; Varesco, Liliana; Tibiletti, Maria ...; Peterlongo, Paol ...; Volorio, Sara; Manoukian, Siran ...; Pensotti, Valeri ...; Arnold, Norbert; Engel, Christoph; Deissler, Helmut; Gadzicki, Doroth ...; Gehrig, Andrea; Kast, Karin; Rhiem, Kerstin; Meindl, Alfons; Niederacher, Die ...; Ditsch, Nina; Plendl, Hansjoer ...; Preisler-Adams, ...; Engert, Stefanie; Sutter, Christia ...; Varon-Mateeva, R ...; Wappenschmidt, B ...; Weber, Bernhard ...; Arver, Brita; Stenmark-Askmalm ...; Loman, Niklas; Rosenquist, Rich ...; Einbeigi, Zakari ...; Nathanson, Kathe ...; Rebbeck, Timothy ...; Blank, Stephanie ...; Cohn, David E.; Rodriguez, Gusta ...; Small, Laurie; Friedlander, Mic ...; Bae-Jump, Victor ...; Fink-Retter, Ann ...; Rappaport, Chris ...; Gschwantler-Kaul ...; Pfeiler, Georg; Tea, Muy-Kheng; Lindor, Noralane ...; Kaufman, Bella; Paluch, Shani Sh ...; Laitman, Yael; Skytte, Anne-Bin ...; Gerdes, Anne-Mar ...; Pedersen, Inge S ...; Moeller, Sanne T ...; Kruse, Torben A.; Jensen, Uffe Bir ...; Vijai, Joseph; Sarrel, Kara; Robson, Mark; Kauff, Noah; Mulligan, Anna M ...; Glendon, Gord; Ozcelik, Hilmi; Ejlertsen, Bent; Nielsen, Finn C.; Jonson, Lars; Andersen, Mette ...; Ding, Yuan Chun; Steele, Linda; Foretova, Lenka; Teule, Alex; Lazaro, Conxi; Brunet, Joan; Angel Pujana, Mi ...; Mai, Phuong L.; Loud, Jennifer T ...; Walsh, Christine; Lester, Jenny; Orsulic, Sandra; Narod, Steven A.; Herzog, Josef; Sand, Sharon R.; Tognazzo, Silvia; Agata, Simona; Vaszko, Tibor; Weaver, Joellen; Stavropoulou, Al ...; Buys, Saundra S.; Romero, Atocha; de la Hoya, Migu ...; Aittomaki, Krist ...; Muranen, Taru A.; Duran, Mercedes; Chung, Wendy K.; Lasa, Adriana; Dorfling, Cecili ...; Miron, Alexander; Benitez, Javier; Senter, Leigha; Huo, Dezheng; Chan, Salina B.; Sokolenko, Anna ...; Chiquette, Jocel ...; Tihomirova, Laim ...; Friebel, Tara M.; Agnarsson, Bjarn ...; Lu, Karen H.; Lejbkowicz, Flav ...; James, Paul A.; Hall, Per; Dunning, Alison ...; Tessier, Daniel; Cunningham, Juli ...; Slager, Susan L.; Wang, Chen; Hart, Steven; Stevens, Kristen; Simard, Jacques; Pastinen, Tomi; Pankratz, Vernon ...; Offit, Kenneth; Easton, Douglas ...; Chenevix-Trench, ...; Antoniou, Antoni ...; visa färre...

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