title: Germline mutational analysis of CDH1 and pathologic features in familial cancer syndrome with diffuse gastric cancer/breast cancer proband in a Chinese family.
abstract: OBJECTIVE
  Hereditary non-polyposis colorectal cancer, thyroid medullary carcinoma, breast/ovarian cancer and gastric cancer/breast cancer syndrome are encountered in surgery. Some gastric cancer/breast cancer syndrome may be the result of a CDH1 germline mutation. This is the first report of CDH1 germline mutations gastric cancer/breast cancer syndrome in Chinese patients.
  
  
  METHODS
  Peripheral blood from the proband, as well as, her first and second degree relatives was collected and CDH1 gene exon 1-16 mutations were screened. E-cadherin/beta-catenin proteins expression and histopathologic features were examined on gastric cancer/breast cancer tissues from the proband.
  
  
  RESULTS
  A C-->T nucleotide substitution at exon 13 (mRNA 2200 locus, Accession number NM-004360) was found. This was a transition from GCC-->GCT in DNA sequence (Ala154Ala). Diffuse-type gastric cancer and infiltrating ductal breast carcinoma were present. Both tumours preserved E-cadherin/beta-catenin expression immunohistochemically.
  
  
  CONCLUSIONS
  Familial cancer syndrome with diffuse-type gastric cancer/breast cancer proband in Chinese has a propensity of early onset during lifespan. No truncating or splice-site CDH1 mutations had been identified in this family. A silent nucleotide variation in exon 13 of the CDH1 gene may contribute to some forms of cancer susceptibility.
authors.affiliation: Department of Surgery of Ruijin Hospital, Shanghai Institute of Digestive Surgery, Shanghai Second Medical University, Shanghai 200025, China.
authors.forename: Z G
authors.initials: ZG
authors.lastname: Zhu
authors.forename: Y Y
authors.initials: YY
authors.lastname: Yu
authors.forename: Y
authors.initials: Y
authors.lastname: Zhang
authors.forename: J
authors.initials: J
authors.lastname: Ji
authors.forename: J
authors.initials: J
authors.lastname: Zhang
authors.forename: B Y
authors.initials: BY
authors.lastname: Liu
authors.forename: X H
authors.initials: XH
authors.lastname: Chen
authors.forename: Y
authors.initials: Y
authors.lastname: Lu
authors.forename: H S
authors.initials: HS
authors.lastname: Jiang
authors.forename: L
authors.initials: L
authors.lastname: Bu
authors.forename: L D
authors.initials: LD
authors.lastname: Hu
authors.forename: X Y
authors.initials: XY
authors.lastname: Kong
mesh_terms: D000328:Adult; D019943:Amino Acid Substitution / Q000235:genetics; D044466:Asian People / Q000235:genetics*; D001483:Base Sequence; D001943:Breast Neoplasms / Q000235:genetics* / Q000378:metabolism / Q000473:pathology*; D015820:Cadherins / Q000378:metabolism; D002237:Carbohydrate Dehydrogenases / Q000235:genetics*; D044584:Carcinoma, Ductal / Q000235:genetics* / Q000378:metabolism / Q000473:pathology*; D002681:China; D015179:Colorectal Neoplasms / Q000235:genetics / Q000378:metabolism / Q000473:pathology; D003598:Cytoskeletal Proteins / Q000378:metabolism; D004273:DNA, Neoplasm / Q000235:genetics; D005091:Exons / Q000235:genetics; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics; D018095:Germ-Line Mutation / Q000235:genetics*; D006801:Humans; D007150:Immunohistochemistry; D007413:Intestinal Mucosa / Q000378:metabolism / Q000473:pathology; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D013274:Stomach Neoplasms / Q000235:genetics* / Q000378:metabolism / Q000473:pathology*; D013577:Syndrome; D015534:Trans-Activators / Q000378:metabolism; D051176:beta Catenin
chemical_list: C495270:CTNNB1 protein, human; D015820:Cadherins; D003598:Cytoskeletal Proteins; D004273:DNA, Neoplasm; D015534:Trans-Activators; D051176:beta Catenin; D002237:Carbohydrate Dehydrogenases; C019859:cellobiose-quinone oxidoreductase