Hispanic population: forgotten hereditary breast and ovarian cancer high risk group?

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