Novel germline CDH1 mutations in hereditary diffuse gastric cancer families

Humar, B, Toro, T, Graziano, F, Muller, H, Dobbie, Z, Kwang-Yang, H, Eng, C, Hampel, H, Gilbert, D, Winship, I, Parry, S, Ward, R, Findlay, M, Christian, A, Tucker, M, Tucker, K, Merriman, T and Guilford, P (2002) Novel germline CDH1 mutations in hereditary diffuse gastric cancer families. Human Mutation, 19 5: 518-525. doi:10.1002/humu.10067

Author Humar, B
Toro, T
Graziano, F
Muller, H
Dobbie, Z
Kwang-Yang, H
Eng, C
Hampel, H
Gilbert, D
Winship, I
Parry, S
Ward, R
Findlay, M
Christian, A
Tucker, M
Tucker, K
Merriman, T
Guilford, P
Title Novel germline CDH1 mutations in hereditary diffuse gastric cancer families
Journal name Human Mutation   Check publisher's open access policy
ISSN 1059-7794
Publication date 2002
Sub-type Article (original research)
DOI 10.1002/humu.10067
Volume 19
Issue 5
Start page 518
End page 525
Total pages 8
Language eng
Subject 1311 Genetics
2716 Genetics (clinical)
Abstract Hereditary diffuse gastric cancer (HDGC) is a recently defined cancer syndrome caused by inactivating, heterozygous germline mutations in the gene for the cell-to-cell adhesion protein E-cadherin (CDH1). Here, we describe the search for CDH1 mutations in 10 newly identified gastric cancer families. Seven of 10 families met the clinical criteria for HDGC. Germline mutations were identified in four of these seven families and one family that was borderline for the clinical criteria. Of the mutations identified in the five new families, four were previously unreported and consisted of two frameshift and two donor splice site mutations. One splice site mutation occurred at the 100% conserved + 1 position. The second splice site mutation occurred at the + 5 position and was shown to lead to abnormal splicing. Additional CDH1 variants detected include the heterozygous -160 C→A promoter polymorphism, which has previously been reported to be associated with decreased CDH1 transcription. We, however, found this polymorphism to be common in a control population, suggesting that a major role for this polymorphism in gastric cancer susceptibility is unlikely.
Keyword CDH1
Hereditary diffuse gastric cancer
Q-Index Code C1
Q-Index Status Provisional Code
Institutional Status Unknown

Document type: Journal Article
Sub-type: Article (original research)
Collection: Scopus Import
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Citation counts: TR Web of Science Citation Count  Cited 48 times in Thomson Reuters Web of Science Article | Citations
Scopus Citation Count Cited 53 times in Scopus Article | Citations
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Created: Wed, 11 Feb 2015, 12:08:44 EST by Ms Kate Rowe