|| common in clinvar
|| Lynch syndrome, pathogenic mutation
rs193922376, also known as c.942+3A>T and c.943+3A>T, is a rare mutation in the MSH2 gene on chromosome 2.
Acting in an autosomal dominant manner, the rs193922376(T) allele is considered pathogenic by multiple sources in ClinVar for Lynch syndrome, a disorder characterized by increased risk for colon cancer and other cancers.
Although still exceedingly rare, this mutation has been cited as perhaps the most common Lynch syndrome mutation. See also OMIM 609309.0011
A private name, i5008753, is used by 23andMe for this SNP instead of it's real (public) name.
[PMID 1071222] [Microbiological study of a saline soil, El Salitre].
[PMID 8895729] Altered expression of hMSH2 and hMLH1 in tumors with microsatellite instability and genetic alterations in mismatch repair genes.
[PMID 9311737] Hereditary nonpolyposis colorectal cancer families not complying with the Amsterdam criteria show extremely low frequency of mismatch-repair-gene mutations.
[PMID 10882759] Mutational germline analysis of hMSH2 and hMLH1 genes in early onset colorectal cancer patients.
[PMID 12658575] Molecular analysis of hereditary nonpolyposis colorectal cancer in the United States: high mutation detection rate among clinically selected families and characterization of an American founder genomic deletion of the MSH2 gene.
[PMID 18270343] The frequency of Muir-Torre syndrome among Lynch syndrome families.