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E‐cadherin germline mutations define an inherited cancer syndrome dominated by diffuse gastric cancer
Author(s) -
Guilford Parry J.,
Hopkins Justin B.W.,
Grady William M.,
Markowitz Sanford D.,
Willis Joseph,
Lynch Henry,
Rajput Ashwani,
Wiesner Georgia L.,
Lindor Noralane M.,
Burgart Lawrence J.,
Toro Tumi T.,
Lee Don,
Limacher JeanMarc,
Shaw David W.,
Findlay Michael P.N.,
Reeve Anthony E.
Publication year - 1999
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/(sici)1098-1004(1999)14:3<249::aid-humu8>3.0.co;2-9
Subject(s) - germline mutation , biology , cancer , germline , cadherin , mutation , genetics , breast cancer , cancer research , gene , cell
To extend earlier observations of germline E‐cadherin mutations in kindreds with an inherited susceptibility to diffuse gastric cancer, we searched for germline E‐cadherin mutations in five further families affected predominantly by diffuse gastric cancer and one family with a history of diffuse gastric cancer and early‐onset breast cancer. Heterozygous inactivating mutations were found in the E‐cadherin gene in each of these families. No mutation hotspots were identified. These results demonstrate that germline mutation of the E‐cadherin gene is a common cause of hereditary diffuse gastric cancer and suggest a role for these mutations in the incidence of breast cancer. Hum Mutat 14:249–255, 1999. © 1999 Wiley‐Liss, Inc.