MLH1, mutL homolog 1, 4292

N. diseases: 526; N. variants: 757
Disease: Primary malignant neoplasm ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs63750899
rs63750899
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C1306459
Disease:
Primary malignant neoplasm 		0.010 GeneticVariation BEFREE The mutated MLH1 P648S protein was found to be unstable but still functional in mismatch repair, suggesting that the cancer susceptibility in the family and possibly also the mild disease phenotype in the homozygous individual are linked to shortage of the functional protein. 15139004 2004
dbSNP: rs780406337
rs780406337
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C1306459
Disease:
Primary malignant neoplasm 		0.010 GeneticVariation BEFREE Even rarer is the 1906G-->C MSH2 mutation carried by less than 1% of Ashkenazim, but as with other HNPCC mutations likely associated with a high risk of malignancy. 15516844 2004
dbSNP: rs63750217
rs63750217
Entrez Id: 4292
Gene Symbol: MLH1
MLH1
CUI: C1306459
Disease:
Primary malignant neoplasm 		0.010 GeneticVariation BEFREE No germline mutation was found in the whole coding sequences of hMSH2 and hMTH1, or in the conservative regions of hMLH1 in any patient, while one cancer DNA showed a somatic mutation at codon 682 (threonine to alanine) in hMSH2. 8766523 1996