Risk of Breast Cancer Among Carriers of Pathogenic Variants in Breast Cancer Predisposition Genes Varies by Polygenic Risk Score.
Chi GaoEric C PolleySteven N HartHongyan HuangChunling HuRohan GnanaolivuJenna LilyquistNicholas J BoddickerJie NaChristine B AmbrosonePaul L AuerLeslie BernsteinElizabeth S BurnsideA Heather EliassenMia M GaudetChristopher HaimanDavid J HunterEric J JacobsIsabelle DurotSara LindströmHuiyan MaSusan L NeuhausenPolly A NewcombKatie M O'BrienJanet E OlsonIrene M OngAlpa V PatelJulie R PalmerDale R SandlerRulla TamimiJack A TaylorLauren R TerasAmy Trentham-DietzCeline M VachonClarice R WeinbergSong YaoJeffrey N WeitzelDavid E GoldgarSusan M DomchekKatherine L NathansonFergus J CouchPeter KraftPublished in: Journal of clinical oncology : official journal of the American Society of Clinical Oncology (2021)
PRS facilitates personalization of BC risk among carriers of PVs in predisposition genes. Incorporating PRS into BC risk estimation may help identify > 30% of CHEK2 and nearly half of ATM carriers below the 20% lifetime risk threshold, suggesting the addition of PRS may prevent overscreening and enable more personalized risk management approaches.
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