Population-based estimates of age-specific cumulative risk of breast cancer for pathogenic variants in ATM.
Anne-Laure RenaultJames G DowtyJason A SteenShuai LiIngrid M WinshipGraham G GilesJohn L HopperMelissa C SoutheyTú Nguyen-DumontPublished in: Breast cancer research : BCR (2022)
Although ATM has been definitively identified as a breast cancer predisposition gene, further evidence, such as variant-specific penetrance estimates, are needed to inform risk management strategies for carriers of pathogenic variants to increase the clinical utility of population testing of this gene.