| Geno
|
Mag
|
Summary
|
| (C;C)
|
0
|
common in clinvar
|
| (C;T)
|
5
|
Lynch syndrome; hereditary nonpolyposis colorectal cancer (HNPCC2)
|
| (T;T)
|
6
|
Lynch syndrome; hereditary nonpolyposis colorectal cancer (HNPCC2)
|
rs63751221 is a SNP in the MLH1 gene on chromosome 3, associated with Lynch syndrome (HNPCC).[PMID 10995807]
This variant meets the criteria published in 2013 by the ACMG regarding incidental findings in exome or genome sequencing, as a variant that they do recommend informing a patient about.[PMID 23788249
]
[PMID 10480359] Prevalence of germline mutations of hMLH1, hMSH2, hPMS1, hPMS2, and hMSH6 genes in 75 French kindreds with nonpolyposis colorectal cancer.
[PMID 14512394] Altered expression of MLH1, MSH2, and MSH6 in predisposition to hereditary nonpolyposis colorectal cancer.
[PMID 15235038] Novel splicing associations of hereditary colon cancer related DNA mismatch repair gene mutations.
[PMID 15872200] Screening for the Lynch syndrome (hereditary nonpolyposis colorectal cancer).
[PMID 18415027] Genome-wide copy neutral LOH is infrequent in familial and sporadic microsatellite unstable carcinomas.
]
