New EPCAM founder deletion in Polish population

Clin Genet. 2017 Dec;92(6):649-653. doi: 10.1111/cge.13026. Epub 2017 Aug 3.

Abstract

It is well known that founder mutations associated with cancer risk have useful implications for molecular diagnostics. We report the presence of a founder mutation in EPCAM involved in the etiology of Lynch syndrome (LS). The mutation extends nearly 8.7 kb (c.858 + 2478_*4507del) and is shared by 8 Polish families. Family members suffered almost exclusively from colorectal cancer; however, pancreatic and gastric cancers were also apparent. Next to mutations c. 2041G>A in MLH1 gene and c.942+3A>T in MSH2, the deletion mutation encompassing EPCAM is one of the most common causative changes responsible for LS in Poland.

Keywords: EPCAM; Lynch syndrome; colorectal cancer; founder mutation.

MeSH terms

  • Adult
  • Base Sequence*
  • Colorectal Neoplasms, Hereditary Nonpolyposis / diagnosis
  • Colorectal Neoplasms, Hereditary Nonpolyposis / genetics*
  • Colorectal Neoplasms, Hereditary Nonpolyposis / pathology
  • Epithelial Cell Adhesion Molecule / genetics*
  • Female
  • Founder Effect
  • Gene Expression
  • Humans
  • Male
  • Middle Aged
  • MutL Protein Homolog 1
  • MutS Homolog 2 Protein / genetics*
  • Pancreatic Neoplasms / diagnosis
  • Pancreatic Neoplasms / genetics*
  • Pancreatic Neoplasms / pathology
  • Pedigree
  • Point Mutation
  • Poland
  • Sequence Deletion*
  • Stomach Neoplasms / diagnosis
  • Stomach Neoplasms / genetics*
  • Stomach Neoplasms / pathology

Substances

  • EPCAM protein, human
  • Epithelial Cell Adhesion Molecule
  • MLH1 protein, human
  • MSH2 protein, human
  • MutL Protein Homolog 1
  • MutS Homolog 2 Protein