Hispanic Population: Forgotten Hereditary Breast and Ovarian Cancer High Risk Group?

Pathogenic variants in the BRCA1 and BRCA2 genes have been recognized as major contributors to breast and ovarian cancer risk since the mid-1990s. While the prevalence of BRCA1 and BRCA2 mutations in the general population is estimated at 1:400, the prevalence in the Hispanic population has not been established. However, the significantly earlier age of breast cancer onset and the higher prevalence of triple-negative breast tumors compared to non-Hispanic White women are consistent with a high prevalence of BRCA1/2 mutations in the Hispanic population. Recent studies have shown that a handful of highly recurrent BRCA1/2 mutations are responsible for most of the hereditary risk of breast and ovarian cancer in Hispanic women. Two mutations in particular, BRCA1 185delAG and BRCA1 exon9-12 del, are the most prevalent and can be traced back to Spanish and Amerindian founder populations respectively.