Germline Mutations in Are Associated with Familial Gastric Cancer


The underlying genetic mutations involved in 60% of inherited gastric cancer cases remain unknown. Here we present a large, extended pedigree with familial gastric cancer and an association in part of the family with a mutation in MAP3K6. The conservation, predicted pathogenicity of the variant, tissue distribution, and known function of MAP3K6 made this a strong candidate that warranted further investigation. Examination of an additional 115 unrelated probands identified additional mutations in MAP3K6, including a truncating mutation.


Vyšlo v časopise: Germline Mutations in Are Associated with Familial Gastric Cancer. PLoS Genet 10(10): e32767. doi:10.1371/journal.pgen.1004669
Kategorie: Research Article
prolekare.web.journal.doi_sk: 10.1371/journal.pgen.1004669

Souhrn

The underlying genetic mutations involved in 60% of inherited gastric cancer cases remain unknown. Here we present a large, extended pedigree with familial gastric cancer and an association in part of the family with a mutation in MAP3K6. The conservation, predicted pathogenicity of the variant, tissue distribution, and known function of MAP3K6 made this a strong candidate that warranted further investigation. Examination of an additional 115 unrelated probands identified additional mutations in MAP3K6, including a truncating mutation.


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