Genetics of endometrial cancer

Ayelet Shai, Yakir Segev, Steven A. Narod

Research output: Contribution to journalArticlepeer-review

14 Scopus citations


Women who report a history of endometrial cancer in a first-degree relative are at increased risk of endometrial cancer, with a hazard ratio of 1.5 to 2.0. Only a minority of patients with familial endometrial cancer have a recognized cancer syndrome. Lynch syndrome is the most common genetic syndrome associated with endometrial cancer and a marked increased risk of colon cancer. Cowden syndrome is a rare condition resulting from a mutation in the tumor suppressor gene phosphatase and tensin homolog. The risk for endometrial cancer is about five times higher in women with Cowden syndrome than in the general population. Recently, a novel germline mutation in the POLD1 gene that encodes the catalytic subunit of DNA polymerase δ was described in several families with multiple cases of endometrial cancer. This mutation is also associated with colorectal cancer. The association between BRCA1 mutations and endometrial cancer has been investigated in several studies; it appears that the risk of endometrial cancer is restricted to women with a history of tamoxifen exposure. In recent years, research has focused on genetic polymorphisms that are associated with endometrial cancer risk. Although many polymorphisms have been identified, their clinical significance is unclear and they have not been adapted for clinical practice.

Original languageEnglish
Pages (from-to)499-505
Number of pages7
JournalFamilial Cancer
Issue number3
StatePublished - 1 Sep 2014
Externally publishedYes

Bibliographical note

Publisher Copyright:
© 2014 Springer Science+Business Media Dordrecht.


  • Endometrial cancer
  • Genetics
  • Heritability


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