Comparison of the Prevalence of Pathogenic Variants in Cancer Susceptibility Genes in Black Women and Non-Hispanic White Women With Breast Cancer in the United States. JAMA oncology Domchek, S. M., Yao, S., Chen, F., Hu, C., Hart, S. N., Goldgar, D. E., Nathanson, K. L., Ambrosone, C. B., Haiman, C. A., Couch, F. J., Polley, E. C., Palmer, J. R. 2021


The prevalence of germline pathogenic variants (PVs) in cancer susceptibility genes in US Black women compared with non-Hispanic White women with breast cancer is poorly described.To determine whether US Black and non-Hispanic White women with breast cancer have a different prevalence of PVs in 12 cancer susceptibility genes.Multicenter, population-based studies in the Cancer Risk Estimates Related to Susceptibility (CARRIERS) consortium. Participants were Black and non-Hispanic White women diagnosed with breast cancer, unselected for family history or age at diagnosis. Data were collected from June 1993 to June 2020; data analysis was performed between September 2020 and February 2021.Prevalence of germline PVs in 12 established breast cancer susceptibility genes.Among 3946 Black women (mean [SD] age at diagnosis, 56.5 [12.02] y) and 25?287 non-Hispanic White women (mean [SD] age at diagnosis, 62.7 [11.14] y) with breast cancer, there was no statistically significant difference by race in the combined prevalence of PVs in the 12 breast cancer susceptibility genes evaluated (5.65% in Black vs 5.06% in non-Hispanic White women; P?=?.12). The prevalence of PVs in CHEK2 was higher in non-Hispanic White than Black patients (1.29% vs 0.38%; P?

View details for DOI 10.1001/jamaoncol.2021.1492

View details for PubMedID 34042955