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Population-based estimates of age-specific cumulative risk of breast cancer for pathogenic variants in ATM
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Population-based estimates of age-specific cumulative risk of breast cancer for pathogenic variants in ATM
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Journal Article
Population-based estimates of age-specific cumulative risk of breast cancer for pathogenic variants in ATM
2022
Overview
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.
Publisher
BioMed Central,BioMed Central Ltd,Springer Nature B.V,BMC
Subject
/ Age-specific cumulative risk
/ Ataxia
/ Ataxia Telangiectasia Mutated Proteins - genetics
/ ATM
/ Biomedical and Life Sciences
/ Breast cancer predisposition
/ Breast Neoplasms - epidemiology
/ Breast Neoplasms - pathology
/ Cancer
/ Female
/ Genetic Predisposition to Disease
/ Humans
/ Kinases
/ Oncology
/ Proteins
