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

Autor: Renault AL; Precision Medicine, School of Clinical Sciences at Monash Health, Monash University, Clayton, VIC, 3168, Australia., Dowty JG; Centre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, The University of Melbourne, Parkville, VIC, 3010, Australia., Steen JA; Precision Medicine, School of Clinical Sciences at Monash Health, Monash University, Clayton, VIC, 3168, Australia., Li S; Precision Medicine, School of Clinical Sciences at Monash Health, Monash University, Clayton, VIC, 3168, Australia.; Centre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, The University of Melbourne, Parkville, VIC, 3010, Australia.; Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, CB1 8RN, UK., Winship IM; Royal Melbourne Hospital, Parkville, VIC, 3050, Australia.; Department of Medicine, The University of Melbourne, Parkville, VIC, 3010, Australia., Giles GG; Precision Medicine, School of Clinical Sciences at Monash Health, Monash University, Clayton, VIC, 3168, Australia.; Centre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, The University of Melbourne, Parkville, VIC, 3010, Australia.; Cancer Epidemiology Division, Cancer Council Victoria, Melbourne, VIC, 3004, Australia., Hopper JL; Centre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, The University of Melbourne, Parkville, VIC, 3010, Australia., Southey MC; Precision Medicine, School of Clinical Sciences at Monash Health, Monash University, Clayton, VIC, 3168, Australia. Melissa.Southey@monash.edu.; Cancer Epidemiology Division, Cancer Council Victoria, Melbourne, VIC, 3004, Australia. Melissa.Southey@monash.edu.; Department of Clinical Pathology, Melbourne Medical School, The University of Melbourne, Parkville, VIC, 3010, Australia. Melissa.Southey@monash.edu., Nguyen-Dumont T; Precision Medicine, School of Clinical Sciences at Monash Health, Monash University, Clayton, VIC, 3168, Australia.; Department of Clinical Pathology, Melbourne Medical School, The University of Melbourne, Parkville, VIC, 3010, Australia.
Jazyk: angličtina
Zdroj: Breast cancer research : BCR [Breast Cancer Res] 2022 Apr 01; Vol. 24 (1), pp. 24. Date of Electronic Publication: 2022 Apr 01.
DOI: 10.1186/s13058-022-01518-y
Abstrakt: 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.
(© 2022. The Author(s).)
Databáze: MEDLINE
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