一个 RAD51D 基因突变家族中的子宫内膜癌

IF 1.6 4区医学 Q3 OBSTETRICS & GYNECOLOGY International Journal of Gynecological Pathology Pub Date : 2024-07-01 Epub Date: 2024-03-25 DOI:10.1097/PGP.0000000000000981

Brittany Gilmore, Linda Logan, Wendy McKinnon, Elise Everett, Bronwyn H Bryant

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引用次数: 0

摘要

RAD51 复合物在同源重组缺陷中发挥着重要作用，种系突变与乳腺癌、输卵管卵巢癌以及浆液性子宫内膜癌的关系已得到充分证实。我们报告了一个有法裔加拿大人血统的家庭，他们的 RAD51D 基因发生了种系突变，两个姐妹患有子宫内膜癌（子宫内膜样癌）。我们结合迄今描述的与 RAD51 相关的癌症，讨论了子宫内膜腺癌（子宫内膜样癌）的风险因素。

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Endometrial Cancer in a Family With RAD51D Gene Mutation.

RAD51 complex plays an important role in homologous recombination deficiency and germline mutations have a well-documented association with breast and tubo-ovarian carcinoma, as well as serous-type endometrial carcinoma. We report a family of French Canadian ancestry with a germline mutation in RAD51D and two sisters presenting with endometrial carcinoma, endometrioid-type. The risk factors for endometrial adenocarcinoma, endometrioid-type are discussed in the context of the RAD51-associated carcinomas described to date.

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来源期刊

International Journal of Gynecological Pathology 医学-病理学

CiteScore

3.90

自引率

12.50%

发文量

154

审稿时长

6-12 weeks

期刊介绍： International Journal of Gynecological Pathology is the official journal of the International Society of Gynecological Pathologists (ISGyP), and provides complete and timely coverage of advances in the understanding and management of gynecological disease. Emphasis is placed on investigations in the field of anatomic pathology. Articles devoted to experimental or animal pathology clearly relevant to an understanding of human disease are published, as are pathological and clinicopathological studies and individual case reports that offer new insights.