BRCA1/2相关遗传性乳腺癌和卵巢癌女性生殖系统癌症的疾病部位：一项回顾性研究。
The disease sites of female genital cancers of BRCA1/2-associated hereditary breast and ovarian cancer: a retrospective study.
作者信息
Mitamura Takashi, Sekine Masayuki, Arai Masami, Shibata Yuka, Kato Momoko, Yokoyama Shiro, Yamashita Hiroko, Watari Hidemichi, Yabe Ichiro, Nomura Hiroyuki, Enomoto Takayuki, Nakamura Seigo
机构信息
Department of Obstetrics and Gynecology, Faculty of Medicine and Graduate School of Medicine, Hokkaido University, Kita 14, Nishi 5, Kita-ku, Sapporo, Hokkaido, 060-8648, Japan.
Division of Clinical Genetics, Hokkaido University Hospital, Sapporo, Japan.
出版信息
World J Surg Oncol. 2021 Feb 2;19(1):36. doi: 10.1186/s12957-021-02151-3.
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.
与非遗传性癌症相比，BRCA1/2相关遗传性乳腺癌和卵巢癌（HBOC）的女性生殖道癌症的发病部位了解较少。我们旨在阐明携带HBOC种系BRCA1和BRCA2致病变异（BRCA1+和BRCA2+）的女性生殖器癌症的发病部位分布。对于原发性疾病部位，BRCA2+（40.5%）的输卵管和腹膜癌比例显著高于BRCA1+（15.4%）和BRCA-（无致病变异，12.8%）。对于转移部位，BRCA1+（71.9%）的腹膜播散比例显著高于BRCA-（55.1%），与BRCA2+（71.4%）无差异。这项研究纳入了最广泛的患者群体之一，支持了先前的报告，表明BRCA1/2的致病变异与女性生殖器的疾病部位有关。
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