Journal
JNCI-JOURNAL OF THE NATIONAL CANCER INSTITUTE
Volume 113, Issue 10, Pages 1429-1433Publisher
OXFORD UNIV PRESS INC
DOI: 10.1093/jnci/djaa167
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Funding
- NIH [R01CA116167, R01CA176785, R01CA192393, R01CA225662, R35CA253187]
- NIH Specialized Program of Research Excellence (SPORE) in Breast Cancer [P50CA116201]
- Breast Cancer Research Foundation
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The study evaluated the racial and ethnic differences in prevalence of germline pathogenic variants among breast cancer patients, suggesting a need for personalized management of breast cancer risk based on race and ethnicity.
To evaluate the racial and ethnic differences in prevalence of germline pathogenic variants (PVs) and the effect of race and ethnicity on breast cancer (BC) risk among carriers, results of multigene testing of 77 900 women with BC (non-Hispanic White [NHW] = 57 003; Ashkenazi-Jewish = 4798; Black = 6722; Hispanic = 5194; and Asian = 4183) were analyzed, and the frequency of PVs in each gene were compared between BC patients (cases) and race- and ethnicity-matched gnomAD reference controls. Compared with NHWs, BRCA1 PVs were enriched in Ashkenazi-Jews and Hispanics, whereas CHEK2 PVs were statistically significantly lower in Blacks, Hispanics, and Asians (all 2-sided P < .05). In case-control studies, BARD1 PVs were associated with high risks (odds ratio > 4.00) of BC in Blacks, Hispanics, and Asians; ATM PVs were associated with increased risk of BC among all races and ethnicities except Asians, whereas CHEK2 and BRIP1 PVs were associated with increased risk of BC among NHW5 and Hispanics only. These findings suggest a need for personalized management of BC risk in PV carriers based on race and ethnicity.
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