The disease sites of female genital cancers of BRCA1 / 2 -associated hereditary breast and ovarian cancer: a retrospective study

Disease sites of female genital tract cancers of BRCA1 / 2 -associated hereditary breast and ovarian cancer (HBOC) are less understood than non-hereditary cancers. We aimed to elucidate the disease site distribution of genital cancers in women with the germline BRCA1 and BRCA2 pathogenic variants (BRCA1 + and BRCA2 +) of HBOC. For the primary disease site, the proportion of fallopian tube and peritoneal cancer was significantly higher in BRCA2 + (40.5%) compared with BRCA1 + (15.4%) and BRCA− (no pathogenic variant, 12.8%). For the metastatic site, the proportion of peritoneal dissemination was significantly higher in BRCA1 + (71.9%) than BRCA− (55.1%) and not different from BRCA2 + (71.4%). With one of the most extensive patients, this study supported the previous reports showing that the pathogenic variants of BRCA1 / 2 were involved in the female genitalia’s disease sites.