Article
Somatic mutations in mismatch repair genes in sporadic gastric carcinomas are not a cause but a consequence of the mutator phenotype.
Cancer genetics and cytogenetics - 15 Jan 2008
Pinto Mafalda, Wu Ying, Mensink Rob G J, Cirnes Luís, Seruca Raquel, Hofstra Robert M W
Abstract excerpt
In hereditary nonpolyposis colorectal cancer (HNPCC), patients' mismatch repair (MMR) gene mutations cause MMR deficiency, leading to microsatellite instability (MSI-H). MSI-H is also found in a substantial fraction of sporadic gastric carcinomas (SGC), mainly due to MLH1 promoter hypermethylation, although somatic mutations in MMR genes have been described. We aimed to investigate which MMR defects are present...
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