Burden of hereditary cancer susceptibility in unselected patients with pancreatic ductal adenocarcinoma referred for germline screening.
Carol CreminMichael Kuan-Ching LeeQuan HongCarolyn HoeschenAnna MackenzieKatherine DixonMary McCullumJennifer NukSteve KallogerJoanna KarasinskaCharles ScudamorePeter T W KimFergal DonnellanEric C S LamHoward J LimCynthia L NebenWill SteddenAlicia Y ZhouDavid F SchaefferSophie SunDaniel J RenoufKasmintan A SchraderPublished in: Cancer medicine (2020)
In a prospective clinic-based cohort of patients with PDAC referred for testing irrespective of family history, germline PV were detected in 14.1%. PV in ATM accounted for half of all PVs and were significantly associated with PDAC. These findings support recent guidelines and will guide future service planning in this population.