Penetrance of Breast Cancer Susceptibility Genes From the eMERGE III Network.
Xiao FanJulia WynnNing ShangCong LiuAlexander FedotovMiranda L G HallquistAdam H BuchananMarc S WilliamsMaureen E SmithChristin HoellLaura J F Rasmussen-TorvikJosh F PetersonGeorgia L WiesnerAndrea M MuradGail P JarvikAdam S GordonElisabeth A RosenthalIan B StanawayDavid R CrosslinEric B LarsonKathleen A LeppigNora B HenriksonJanet L WilliamsRongling LiScott HebbringChunhua WengYufeng ShenKatherine D CrewWendy K ChungPublished in: JNCI cancer spectrum (2021)
Our study provides population-based penetrance estimates for the understudied genes CHEK2, ATM, and PALB2 and highlights the importance of using unselected populations for penetrance studies. It also demonstrates the potential clinical impact of genetic testing to improve health care through early diagnosis and preventative screening.