Germline mutation prevalence in the base excision repair gene, MYH, in patients with endometrial cancer

Clin Genet. 2007 Dec;72(6):551-5. doi: 10.1111/j.1399-0004.2007.00900.x. Epub 2007 Oct 22.


Germline mutations in the base excision repair gene, MutY human homolog (MYH), have recently been associated with a recessively inherited multiple adenoma polyposis syndrome and colorectal cancer. The spectrum of extracolonic lesions is still being characterized, although preliminary reports suggest that bi-allelic mutation carriers may share some of the clinical features of other hereditary colon cancer syndromes. Of 225 endometrial cancer patients, we identified one individual as a compound heterozygote, carrying mutations Y165C and G382D of MYH, and five individuals with heterozygous defects (three G382D and two Y165C). The patient with the bi-allelic Y165C/G382D mutation also had a sebaceous carcinoma, a feature of Muir-Torre syndrome. Although several intronic polymorphisms were detected in the heterozygous carriers, no other pathogenic variants were identified. While not conclusive, this novel and interesting finding provides evidence that bi-allelic germline mutations in MYH may increase susceptibility to endometrial cancer.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Aged
  • Aged, 80 and over
  • Alleles
  • Base Sequence
  • Cohort Studies
  • DNA Glycosylases / genetics*
  • DNA Primers / genetics
  • DNA Repair / genetics*
  • Endometrial Neoplasms / genetics*
  • Female
  • Germ-Line Mutation*
  • Heterozygote
  • Humans
  • Middle Aged


  • DNA Primers
  • DNA Glycosylases
  • mutY adenine glycosylase