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Population-based estimates of age-specific cumulative risk of breast cancer for pathogenic variants in ATM.
- Source :
-
Breast cancer research : BCR [Breast Cancer Res] 2022 Apr 01; Vol. 24 (1), pp. 24. Date of Electronic Publication: 2022 Apr 01. - Publication Year :
- 2022
-
Abstract
- Background: Multigene panel tests for breast cancer predisposition routinely include ATM as it is now a well-established breast cancer predisposition gene.<br />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.<br />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; Pā=ā0.6). 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).<br />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.<br /> (© 2022. The Author(s).)
Details
- Language :
- English
- ISSN :
- 1465-542X
- Volume :
- 24
- Issue :
- 1
- Database :
- MEDLINE
- Journal :
- Breast cancer research : BCR
- Publication Type :
- Academic Journal
- Accession number :
- 35365198
- Full Text :
- https://doi.org/10.1186/s13058-022-01518-y