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

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–cont...

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Detalles Bibliográficos
Autores principales: Renault, Anne-Laure, Dowty, James G., Steen, Jason A., Li, Shuai, Winship, Ingrid M., Giles, Graham G., Hopper, John L., Southey, Melissa C., Nguyen-Dumont, Tú
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8973562/
https://www.ncbi.nlm.nih.gov/pubmed/35365198
http://dx.doi.org/10.1186/s13058-022-01518-y
Descripción
Sumario: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. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1186/s13058-022-01518-y.