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Population-based estimates of age-specific cumulative risk of breast cancer for pathogenic variants in ATM.

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Renault, Anne-Laure 
Dowty, James G 
Steen, Jason A 
Li, Shuai 
Winship, Ingrid M 


BACKGROUND: Multigene panel tests for breast cancer predisposition routinely include ATM as it is now a well-established breast cancer predisposition gene. METHODS: We included ATM in a multigene panel test applied to the Australian Breast Cancer Family Registry (ABCFR), a population-based case-control-family study of breast cancer, with the purpose of estimating the prevalence and penetrance of heterozygous ATM pathogenic variants from the family data, using segregation analysis. RESULTS: The estimated breast cancer hazard ratio for carriers of pathogenic ATM variants in the ABCFR was 1.32 (95% confidence interval 0.45-3.87; P = 0.6). The estimated cumulative risk of breast cancer to age 80 years for heterozygous ATM pathogenic variant carriers was estimated to be 13% (95% CI 4.6-30). CONCLUSIONS: 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.



Short Report, ATM, Breast cancer predisposition, Genetic risk factors, Age-specific cumulative risk, Penetrance

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Breast Cancer Res

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Springer Science and Business Media LLC
National Institutes of Health (RO1CA159868, UM1CA164920)
National Breast Cancer Foundation (ECF-17-001)
National Health and Medical Research Council (GNT1155163)
National Health and Medical Research Council (GNT1074383, GNT1101400)
NBCF (NT-15-016)