Population-based estimates of age-specific cumulative risk of breast cancer for pathogenic variants in ATM
Year: 2022
Type: article
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 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.
Source: Breast Cancer Research
Language: English
Subfield: Genetics
Domain: Life Sciences
Open Access status: gold
Estimated APC paid: $3,590
Awards: G2379686819, Breast Cancer Family Registry Cohort, G426196337, G4500822391, Breast Cancer Risk after Diagnostic Gene Sequencing (BRIDGES), Precision Medicine for Prostate and Breast Cancer, G5305488713, G5453276144, G6089146364, Precision Public Health for major cancers - novel approaches to building the genetic, epigenetic and lifestyle knowledge base for assessing risk and prognosis, G7373572287, Genes, environment and breast cancer risk: The 15 year follow-up of the Prof-SC, G852060510, G8528577229
OpenAlex ID: W4221003280