학술논문

Common genetic variants and modification of penetrance of BRCA2-associated breast cancer.
Document Type
article
Author
Mia M GaudetTomas KirchhoffTodd GreenJoseph VijaiJoshua M KornCandace GuiducciAyellet V SegrèKate McGeeLesley McGuffogChristiana KartsonakiJonathan MorrisonSue HealeyOlga M SinilnikovaDominique Stoppa-LyonnetSylvie MazoyerMarion Gauthier-VillarsHagay SobolMichel LongyMarc FrenayGEMO Study CollaboratorsFrans B L HogervorstMatti A RookusJ Margriet ColléeNicoline HoogerbruggeKees E P van RoozendaalHEBON Study CollaboratorsMarion PiedmonteWendy RubinsteinStacy NerenstoneLinda Van LeStephanie V BlankTrinidad CaldésMiguel de la HoyaHeli NevanlinnaKristiina AittomäkiConxi LazaroIgnacio BlancoAdalgeir ArasonOskar T JohannssonRosa B BarkardottirPeter DevileeOlofunmilayo I OlopadeSusan L NeuhausenXianshu WangZachary S FredericksenPaolo PeterlongoSiranoush ManoukianMonica BarileAlessandra VielPaolo RadiceCatherine M PhelanSteven NarodGad RennertFlavio LejbkowiczAnath FlugelmanIrene L AndrulisGord GlendonHilmi OzcelikOCGNAmanda E TolandMarco MontagnaEmma D'AndreaEitan FriedmanYael LaitmanAke BorgMary BeattieSusan J RamusSusan M DomchekKatherine L NathansonTim RebbeckAmanda B SpurdleXiaoqing ChenHelene HollandkConFabEsther M JohnJohn L HopperSaundra S BuysMary B DalyMelissa C SoutheyMary Beth TerryNadine TungThomas V Overeem HansenFinn C NielsenMark H GreenePhuong L MaiAna OsorioMercedes DuránRaquel AndresJavier BenítezJeffrey N WeitzelJudy GarberUte HamannEMBRACESusan PeockMargaret CookClare OliverDebra FrostRadka PlatteD Gareth EvansFiona LallooRos EelesLouise IzattLisa WalkerJacqueline EasonJulian BarwellAndrew K GodwinRita K SchmutzlerBarbara WappenschmidtStefanie EngertNorbert ArnoldDorothea GadzickiMichael DeanBert GoldRobert J KleinFergus J CouchGeorgia Chenevix-TrenchDouglas F EastonMark J DalyAntonis C AntoniouDavid M AltshulerKenneth Offit
Source
PLoS Genetics, Vol 6, Iss 10, p e1001183 (2010)
Subject
Genetics
QH426-470
Language
English
ISSN
1553-7390
1553-7404
Abstract
The considerable uncertainty regarding cancer risks associated with inherited mutations of BRCA2 is due to unknown factors. To investigate whether common genetic variants modify penetrance for BRCA2 mutation carriers, we undertook a two-staged genome-wide association study in BRCA2 mutation carriers. In stage 1 using the Affymetrix 6.0 platform, 592,163 filtered SNPs genotyped were available on 899 young (