Journal article
Population-based estimates of age-specific cumulative risk of breast cancer for pathogenic variants in ATM
AL Renault, JG Dowty, JA Steen, S Li, IM Winship, GG Giles, JL Hopper, MC Southey, T Nguyen-Dumont
Breast Cancer Research | BMC | Published : 2022
Abstract
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..
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Awarded by National Institutes of Health
Funding Acknowledgements
This work was funded by the U.S. National Institute of Health (grant number RO1CA159868). The ABCFR was supported in Australia by the National Health and Medical Research Council, the New South Wales Cancer Council, the Victorian Health Promotion Foundation, the Victorian Breast Cancer Research Consortium, Cancer Australia, and the National Breast Cancer Foundation. The six sites of the Breast Cancer Family Registry (BCFR) were supported by grant UM1 CA164920 from the U.S. National Cancer Institute. The content of this manuscript does not necessarily reflect the views or policies of the National Cancer Institute or any of the collaborating centers in the BCFR, nor does mention of trade names, commercial products or organizations imply endorsement by the U.S. Government or the BCFR. TN-D is a National Breast Cancer Foundation (Australia) Career Development Fellow (ECF-17-001). MCS is a National Health and Medical Research Council (NMHRC, Australia) Senior Research Fellow (APP1155163). SL is a Victorian Cancer Agency Early Career Research Fellow (ECRF19020) This work was supported by an NHMRC Program grant (APP1074383), The National Breast Cancer Foundation (BRASTRAP; NT-15-016), NHMRC European Union Collaborative Research Grant (APP1101400) and Monash University, Clayton, Australia.