Genetic predisposition in gynecologic cancers

Semin Oncol. 2016 Oct;43(5):543-547. doi: 10.1053/j.seminoncol.2016.08.005. Epub 2016 Sep 20.

Abstract

This review article discusses the diagnosis and management of hereditary ovarian cancer and hereditary uterine cancer. The key recommendations highlighted are: All women with high grade non-mucinous epithelial ovarian cancer should be offered at least BRCA1 and BRCA2 genetic testing. The care of women with BRCA-associated ovarian cancer should be tailored to their mutation status. Risk-reducing bilateral salpingo-oophorectomy is recommended for women with BRCA1/2 mutations. Women with endometrial cancer should be assessed for the possibility of Lynch syndrome. Individuals with Lynch syndrome should undergo screening colonoscopy every 1-2 years. Lynch syndrome causes a high risk of endometrial cancer, and women with Lynch syndrome should consult with a gynecologic specialist to formulate a plan for managing this risk.

Keywords: BRCA1/2; Endometrial cancer; Hereditary cancer; Lynch syndrome; Ovarian cancer.

Publication types

  • Review

MeSH terms

  • Colorectal Neoplasms, Hereditary Nonpolyposis / genetics
  • Female
  • Genes, BRCA1
  • Genes, BRCA2
  • Genetic Predisposition to Disease*
  • Genital Neoplasms, Female / diagnosis
  • Genital Neoplasms, Female / genetics*
  • Humans
  • Mutation