Journal article
An α-E-catenin (CTNNA1) mutation in hereditary diffuse gastric cancer
IJ Majewski, I Kluijt, A Cats, TS Scerri, D De Jong, RJC Kluin, S Hansford, FBL Hogervorst, AJ Bosma, I Hofland, M Winter, D Huntsman, J Jonkers, M Bahlo, R Bernards
Journal of Pathology | Published : 2013
DOI: 10.1002/path.4152
Abstract
Diffuse gastric cancers typically present as late-stage tumours and, as a result, the 5 year survival rate is poor. Some gastric cancers are hereditary and these tend to be of the diffuse type; 30-40% of hereditary diffuse gastric cancers (HDGCs) can be explained by defective germline alleles of E-cadherin (CDH1), but for the remaining families the factors driving susceptibility remain unknown. We had access to a large HDGC pedigree with no obvious mutation in CDH1, and applied exome sequencing to identify new genes involved in gastric cancer. We identified a germline truncating allele of α-E-catenin (CTNNA1) that was present in two family members with invasive diffuse gastric cancer and fou..
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Awarded by National Health and Medical Research Council of Australia
Funding Acknowledgements
This project was completely dependent upon the donation of clinical samples from the family. IJM was supported by the National Health and Medical Research Council of Australia (Fellowship No. 575581). MB was supported by a Future Fellowship from the Australian Research Council. The authors wish to thank Kylie Greig for critical reading of the manuscript and Reinie Kaas for help with constructing the pedigree.