Prevalence of BRCA1 and BRCA2 Variants in an Unselected Population of Women With Breast Cancer

BRCA1, BRCA2 (155-gene panel)

Prospective unselected cohort (2,401 women, all stages, City of Hope, 2020–2023) with large germline panel (155 genes); analysis of ethnic disparities in BRCA1/2 prevalence

Prospective cohort study including 2,401 women with breast cancer (all stages, not selected on family history) at City of Hope (2020–2023), with 155-gene germline panel. Hispanic women had a 2.58-fold higher odds of carrying a BRCA1 P/LP variant (rather than BRCA2) compared to non-Hispanic women. These data reinforce the argument for universal BRCA1/2 testing regardless of family history, and highlight the importance of not limiting to classical clinical criteria in ethnically diverse populations.

Synthesis written by Geno'X. For the full original abstract, please refer to the source publication.

The observed ethnic disparities — overrepresentation of BRCA1 in Hispanic women — illustrate how classical selection criteria may under-identify certain populations. In France, these data prompt reflection on migrant populations and specific founder variants (Maghreb, sub-Saharan Africa). Additional argument for extending germline testing to all breast cancer patients.

argument for universal testing +2; significant ethnic disparities (Hispanics × 2.58 for BRCA1) +2; JAMA Netw Open +1; n=2,401 +1