TY - JOUR
T1 - The disease sites of female genital cancers of BRCA1/2-associated hereditary breast and ovarian cancer
T2 - a retrospective study
AU - and the Registration Committee of the Japanese HBOC consortium
AU - Mitamura, Takashi
AU - Sekine, Masayuki
AU - Arai, Masami
AU - Shibata, Yuka
AU - Kato, Momoko
AU - Yokoyama, Shiro
AU - Yamashita, Hiroko
AU - Watari, Hidemichi
AU - Yabe, Ichiro
AU - Nomura, Hiroyuki
AU - Enomoto, Takayuki
AU - Nakamura, Seigo
N1 - Funding Information:
This work was supported by JSPS KAKENHI (Grant Number JP19K09818) and Takeda Science Foundation (Japan).
Publisher Copyright:
© 2021, The Author(s).
PY - 2021/12
Y1 - 2021/12
N2 - 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.
AB - 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.
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U2 - 10.1186/s12957-021-02151-3
DO - 10.1186/s12957-021-02151-3
M3 - Letter
C2 - 33531027
AN - SCOPUS:85100436871
VL - 19
JO - World Journal of Surgical Oncology
JF - World Journal of Surgical Oncology
SN - 1477-7819
IS - 1
M1 - 36
ER -