Germline truncating-mutations in BRCA1 and MSH6 in a patient with early onset endometrial cancer

BMC Cancer. 2012 Nov 20;12:531. doi: 10.1186/1471-2407-12-531.


Background: Hereditary Breast and Ovarian Cancer Syndrome (HBOCS) and Hereditary Non-Polyposis Colorectal Cancer Syndrome (HNPCC, Lynch Syndrome) are two tumor predisposition syndromes responsible for the majority of hereditary breast and colorectal cancers. Carriers of both germline mutations in breast cancer genes BRCA1 or BRCA2 and in mismatch repair (MMR) genes MLH1, MSH2, MSH6 or PMS2 are very rare.

Case presentation: We identified germline mutations in BRCA1 and in MSH6 in a patient with increased risk for HBOC diagnosed with endometrial cancer at the age of 46 years.

Conclusions: Although carriers of mutations in both MMR and BRCA genes are rare in Caucasian populations and anamnestical and histopathological findings may guide clinicians to identify these families, both syndromes can only be diagnosed through a complete gene analysis of the respective genes.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Age of Onset
  • Chromatography, High Pressure Liquid
  • DNA-Binding Proteins / genetics*
  • Endometrial Neoplasms / genetics*
  • Female
  • Genetic Predisposition to Disease / genetics*
  • Germ-Line Mutation
  • Humans
  • Middle Aged
  • Pedigree
  • Ubiquitin-Protein Ligases / genetics*


  • DNA-Binding Proteins
  • G-T mismatch-binding protein
  • BRAP protein, human
  • Ubiquitin-Protein Ligases