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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-Dumont
Published 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.
Keyphrases
  • copy number
  • dna damage
  • genome wide
  • dna damage response
  • dna repair
  • genome wide identification
  • breast cancer risk
  • gene expression
  • oxidative stress
  • young adults
  • genome wide analysis