CDH1-related blepharocheilodontic syndrome is associated with diffuse gastric cancer risk

Am J Med Genet A. 2020 Jul;182(7):1780-1784. doi: 10.1002/ajmg.a.61601. Epub 2020 Apr 17.

Abstract

We report the first case of diffuse gastric cancer in an individual with familial blepharocheilodontic syndrome (BCD) due to a germline CDH1 likely pathogenic variant. To date, other BCD affected relatives are nonpenetrant for diffuse gastric cancer posing challenges to counseling regarding gastric and breast cancer surveillance, and preventative total gastrectomy.

Keywords: CDH1; blepharocheilodontic syndrome; genetic counseling; hereditary diffuse gastric cancer.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Antigens, CD / genetics*
  • Cadherins / genetics*
  • Child, Preschool
  • Cleft Lip / complications
  • Cleft Lip / diagnosis
  • Cleft Lip / genetics*
  • Cleft Lip / pathology
  • Cleft Palate / complications
  • Cleft Palate / diagnosis
  • Cleft Palate / genetics*
  • Cleft Palate / pathology
  • Ectropion / complications
  • Ectropion / diagnosis
  • Ectropion / genetics*
  • Ectropion / pathology
  • Female
  • Gastrectomy
  • Genetic Counseling
  • Genetic Predisposition to Disease*
  • Germ-Line Mutation / genetics
  • Humans
  • Male
  • Pedigree
  • Risk Factors
  • Stomach Neoplasms / diagnosis
  • Stomach Neoplasms / etiology
  • Stomach Neoplasms / genetics*
  • Stomach Neoplasms / surgery
  • Tooth Abnormalities / complications
  • Tooth Abnormalities / diagnosis
  • Tooth Abnormalities / genetics*
  • Tooth Abnormalities / pathology

Substances

  • Antigens, CD
  • CDH1 protein, human
  • Cadherins

Supplementary concepts

  • Blepharo-cheilo-dontic syndrome