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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.


Takashi Mitamura, Masayuki Sekine, Masami Arai, Yuka Shibata, Momoko Kato, Shiro Yokoyama, Hiroko Yamashita, Hidemichi Watari, Ichiro Yabe, Hiroyuki Nomura, Takayuki Enomoto, Seigo Nakamura, and the Registration Committee of the Japanese HBOC consortium. The disease sites of female genital cancers of BRCA1/2-associated hereditary breast and ovarian cancer: a retrospective study. World journal of surgical oncology. 2021 Feb 02;19(1):36

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PMID: 33531027

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