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

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

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.

Keywords: BRCA mutations; BSO; Endometrial carcinoma; Meta-analysis; Prophylactic hysterectomy; Tamoxifen.

Publication types

  • Meta-Analysis
  • Research Support, Non-U.S. Gov't
  • Systematic Review

MeSH terms

  • BRCA1 Protein / genetics*
  • Breast Neoplasms
  • Endometrial Neoplasms* / epidemiology
  • Endometrial Neoplasms* / genetics
  • Female
  • Heterozygote
  • Humans
  • Mutation
  • Prospective Studies
  • Retrospective Studies

Substances

  • BRCA1 Protein