title: Identification of germ-line E-cadherin mutations in gastric cancer families of European origin.
abstract: E-cadherin germ-line mutations have recently been described as a molecular basis for early-onset familial gastric cancer in Maori kindred. We screened 18 gastric cancer families of European origin for germ-line mutations to determine the proportion in which E-cadherin mutations occur and the clinical characteristics of the affected families. Truncating mutations were identified in three kindred with familial diffuse gastric cancer. In these families, the age of onset of gastric cancer was variable, the penetrance was incomplete, and one kindred contained individuals with cancers at other sites. Here, we show that a proportion of diffuse gastric cancer families of European origin have germ-line E-cadherin mutations; however, these mutations are absent in intestinal gastric cancer families.
authors.affiliation: Department of Oncology and Cancer Research Campaign Human Cancer Genetics Research Group, University of Cambridge, Addenbrooke's Hospital, United Kingdom.
authors.forename: S A
authors.initials: SA
authors.lastname: Gayther
authors.forename: K L
authors.initials: KL
authors.lastname: Gorringe
authors.forename: S J
authors.initials: SJ
authors.lastname: Ramus
authors.forename: D
authors.initials: D
authors.lastname: Huntsman
authors.forename: F
authors.initials: F
authors.lastname: Roviello
authors.forename: N
authors.initials: N
authors.lastname: Grehan
authors.forename: J C
authors.initials: JC
authors.lastname: Machado
authors.forename: E
authors.initials: E
authors.lastname: Pinto
authors.forename: R
authors.initials: R
authors.lastname: Seruca
authors.forename: K
authors.initials: K
authors.lastname: Halling
authors.forename: P
authors.initials: P
authors.lastname: MacLeod
authors.forename: S M
authors.initials: SM
authors.lastname: Powell
authors.forename: C E
authors.initials: CE
authors.lastname: Jackson
authors.forename: B A
authors.initials: BA
authors.lastname: Ponder
authors.forename: C
authors.initials: C
authors.lastname: Caldas
mesh_terms: D000328:Adult; D017668:Age of Onset; D000368:Aged; D000369:Aged, 80 and over; D015820:Cadherins / Q000235:genetics*; D005060:Europe / Q000208:ethnology; D005260:Female; D018095:Germ-Line Mutation / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D013274:Stomach Neoplasms / Q000208:ethnology / Q000235:genetics*
chemical_list: D015820:Cadherins