An α-E-catenin (CTNNA1) mutation in hereditary diffuse gastric cancer.

  title={An α-E-catenin (CTNNA1) mutation in hereditary diffuse gastric cancer.},
  author={Ian J. Majewski and Irma Kluijt and Annemieke Cats and Thomas S Scerri and Daphne D de Jong and Roelof J. C. Kluin and Samantha Hansford and Frans B. L. Hogervorst and Astrid J. Bosma and Ingrid Hofland and Marcel G T Winter and David Huntsman and Jos Jonkers and Melanie Bahlo and Ren{\'e} Bernards},
  journal={The Journal of pathology},
  volume={229 4},
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… CONTINUE READING