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BRCA突变与子宫内膜癌之间的关联:一项荟萃分析的系统评价

Association between BRCA mutations and endometrial carcinoma: a systematic review with meta-analysis.

作者信息

Lu Guojiao, Lu Tao, Pan Jichen, Guo Ling, Pang Yingxin, Liu Peishu

机构信息

Department of Obstetrics and Gynecology, Qilu Hospital of Shandong University, Jinan, 250012, Shandong, People's Republic of China.

出版信息

Arch Gynecol Obstet. 2021 Jun;303(6):1569-1579. doi: 10.1007/s00404-020-05887-7. Epub 2020 Nov 20.

DOI:10.1007/s00404-020-05887-7
PMID:33215232
Abstract

PURPOSE

To first investigate on the association between BRCA mutations and endometrial carcinoma. To first evaluate the contribution of tamoxifen use and risk-reducing bilateral salping-oophenrectomy (BSO) on endometrial carcinoma in BRCA carriers.

METHODS

A systematic search of electronic databases including the PubMed and EMBASE was conducted to identify publications exploring the association between BRCA mutations and endometrial carcinoma. Finally, single rate meta-analysis and diagnostic meta-analysis were performed.

RESULTS

11 retrospective studies and 3 prospective studies were included in the meta-analysis, single rate meta-analysis was performed on retrospective studies and prospective studies respectively. We got that incidence of BRCA mutations in patients with endometrial carcinoma is about 0.035, the incidence of endometrial carcinoma in BRCA carriers is about 0.004. Diagnostic meta-analysis performed on prospective studies found that tamoxifen increased incidence of endometrial carcinoma in BRCA carriers.

CONCLUSIONS

The incidence of BRCA mutations in patients with endometrial carcinoma is about 0.035 according to present studies, the incidence of endometrial carcinoma in BRCA carriers is about 0.004. Tamoxifen use is a certain risk factor for subsequent endometrial carcinoma, while history of breast cancer or risk-reducing BSO is not associated with incidence of follow-up endometrial carcinoma. The necessity and rationality of prophylactic hysterectomy for BRCA carriers remained to be discussed.

摘要

目的

首先研究BRCA突变与子宫内膜癌之间的关联。首先评估他莫昔芬的使用以及双侧输卵管卵巢切除术(BSO)对携带BRCA基因者患子宫内膜癌风险的影响。

方法

对包括PubMed和EMBASE在内的电子数据库进行系统检索,以确定探索BRCA突变与子宫内膜癌之间关联的出版物。最后进行单率荟萃分析和诊断性荟萃分析。

结果

荟萃分析纳入了11项回顾性研究和3项前瞻性研究,分别对回顾性研究和前瞻性研究进行了单率荟萃分析。我们得出,子宫内膜癌患者中BRCA突变的发生率约为0.035,携带BRCA基因者患子宫内膜癌的发生率约为0.004。对前瞻性研究进行的诊断性荟萃分析发现,他莫昔芬增加了携带BRCA基因者患子宫内膜癌的风险。

结论

根据目前的研究,子宫内膜癌患者中BRCA突变的发生率约为0.035,携带BRCA基因者患子宫内膜癌的发生率约为0.004。使用他莫昔芬是后续发生子宫内膜癌的一个危险因素,而乳腺癌病史或预防性双侧输卵管卵巢切除术与后续子宫内膜癌的发生率无关。对携带BRCA基因者进行预防性子宫切除术的必要性和合理性仍有待探讨。

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本文引用的文献

1
Risk-reducing Salpingo-Oophorectomy in Women at Higher Risk of Ovarian and Breast Cancer: A Single Institution Prospective Series.降低卵巢癌和乳腺癌高危女性风险的输卵管卵巢切除术:单机构前瞻性系列研究
Anticancer Res. 2017 Sep;37(9):5241-5248. doi: 10.21873/anticanres.11948.
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A Dedicated Follow-Up Clinic for BRCA Mutation Carriers.一个针对BRCA突变携带者的专门随访诊所。
Isr Med Assoc J. 2016 Sep;18(9):549-552.
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Risk-reducing surgery on the uterine adnexa: timing and type of surgical treatment, and pathology report.子宫附件的降低风险手术:手术治疗的时机和类型,以及病理报告。
Minerva Ginecol. 2016 Oct;68(5):536-43. Epub 2016 Feb 4.
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BRCA germline mutations in women with uterine serous carcinoma--still a debate.BRCA 种系突变与子宫浆液性癌——仍有争议。
Int J Gynecol Cancer. 2010 Dec;20(9):1531-4. doi: 10.1111/IGC.0b013e3181cd242f.
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A dualistic model for endometrial carcinogenesis based on immunohistochemical and molecular genetic analyses.基于免疫组织化学和分子遗传学分析的子宫内膜癌发生二元模型。
Verh Dtsch Ges Pathol. 1997;81:228-32.
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Germline BRCA2 gene mutations in patients with apparently sporadic pancreatic carcinomas.明显散发型胰腺癌患者的胚系BRCA2基因突变
Cancer Res. 1996 Dec 1;56(23):5360-4.