title: Screening E-cadherin in gastric cancer families reveals germline mutations only in hereditary diffuse gastric cancer kindred.
abstract: The International Gastric Cancer Linkage Consortium (IGCLC) predicted that up to 25% of families fulfilling the criteria for hereditary diffuse gastric cancer (HDGC) would harbor CDH1 germline mutations. This was based on observations from the low number of diffuse gastric cancer families described at the time, and its validation would require analysis of larger numbers. Here we report the results of germline CDH1 mutation screening in 39 kindred with familial aggregation of gastric cancer, a subset of which fulfills the criteria defined by the IGCLC for HDGC. CDH1 germline mutations were detected in four of 11 (36.4%) HDGC families. No mutations were identified in 63.6% of HDGC families or in kindred with familial aggregation of gastric cancer not fulfilling criteria for HDGC. These results add support to the evidence that only HDGC families harbor germline mutations in CDH1 and that genes other than CDH1 remain to be identified.
authors.affiliation: Cancer Genomics Program, Department of Oncology, University of Cambridge, Hutchison/MRC Research Centre, Addenbrooke's Hospital, Cambridge, UK.
authors.forename: Carla
authors.initials: C
authors.lastname: Oliveira
authors.forename: Maria Cristina
authors.initials: MC
authors.lastname: Bordin
authors.forename: Nicola
authors.initials: N
authors.lastname: Grehan
authors.forename: David
authors.initials: D
authors.lastname: Huntsman
authors.forename: Gianpaolo
authors.initials: G
authors.lastname: Suriano
authors.forename: José Carlos
authors.initials: JC
authors.lastname: Machado
authors.forename: Tuula
authors.initials: T
authors.lastname: Kiviluoto
authors.forename: Lauri
authors.initials: L
authors.lastname: Aaltonen
authors.forename: Charles E
authors.initials: CE
authors.lastname: Jackson
authors.forename: Raquel
authors.initials: R
authors.lastname: Seruca
authors.forename: Carlos
authors.initials: C
authors.lastname: Caldas
mesh_terms: D000328:Adult; D000368:Aged; D001943:Breast Neoplasms / Q000235:genetics; D018567:Breast Neoplasms, Male / Q000235:genetics; D015820:Cadherins / Q000235:genetics*; D003110:Colonic Neoplasms / Q000235:genetics; D005260:Female; D005820:Genetic Testing / Q000379:methods*; D018095:Germ-Line Mutation / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D010051:Ovarian Neoplasms / Q000235:genetics; D010375:Pedigree; D013274:Stomach Neoplasms / Q000235:genetics*
chemical_list: D015820:Cadherins