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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.

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