Copy Number Variants Are Ovarian Cancer Risk Alleles at Known and Novel Risk Loci.
Amber A DeVriesJoe G DennisJonathan P TyrerPei-Chen PengSimon G CoetzeeAlberto L ReyesJasmine T PlummerBrian D DavisStephanie S ChenFelipe Segato DezemKatja K H AbenHoda Anton-CulverNatalia N AntonenkovaMatthias W BeckmannAlicia Beeghly-FadielAndrew BerchuckNatalia V BogdanovaNadja Bogdanova-MarkovJames D BrentonRalf ButzowIan G CampbellJenny Chang-ClaudeGeorgia Chenevix-TrenchLinda S CookAnna DeFazioJennifer A DohertyThilo DörkDiana M EcclesA Heather EliassenPeter A FaschingRenée T FortnerGraham G GilesEllen L GoodeMarc T GoodmanJacek Gronwaldnull nullnull nullNiclas HåkanssonMichelle A T HildebrandtChad HuffDavid G HuntsmanAllan JensenSiddhartha P KarBeth Y KarlanElza K KhusnutdinovaLambertus A KiemeneySusanne K KjaerJolanta KupryjanczykMarilyne LabrieDiether LambrechtsNhu D LeJan LubińskiTaymaa MayUsha MenonRoger L MilneFrancesmary ModugnoAlvaro N MonteiroKirsten B MoysichKunle OdunsiHåkan OlssonCeleste L PearceTanja PejovicSusan J RamusElio RiboliMarjorie J RigganIsabelle RomieuDale P SandlerJoellen M SchildkrautV Wendy SetiawanWeiva SiehHonglin SongRebecca SutphenKathryn L TerryPamela J ThompsonLinda TitusShelley S TworogerEls Van NieuwenhuysenDigna Velez EdwardsPenelope M WebbNicolas WenstzensenAlice S WhittemoreAlicja WolkAnna H WuArgyrios ZiogasMatthew L FreedmanKate LawrensonPaul D P PharoahDouglas F EastonSimon A GaytherMichelle R JonesPublished in: Journal of the National Cancer Institute (2022)
CNVs in BRCA1 have been previously reported in smaller studies, but their observed frequency in this large population-based cohort, along with the CNVs observed at BRCA2 and RAD51C gene loci in EOC cases, suggests that these CNVs are potentially pathogenic and may contribute to the spectrum of disease-causing mutations in these genes. CNVs are likely to occur in a wider set of susceptibility regions, with potential implications for clinical genetic testing and disease prevention.