rs63749993, MSH2

N. diseases: 8
Disease: Lynch Syndrome ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Lynch Syndrome
CUI: C4552100
Disease: Lynch Syndrome
0.030 GeneticVariation BEFREE The hMSH2(M688R) Lynch syndrome mutation may function as a dominant negative. 22739024 2012
Lynch Syndrome
CUI: C4552100
Disease: Lynch Syndrome
0.030 GeneticVariation BEFREE Here we describe a patient from a Lynch syndrome family with a germline mutation c.2063T>G (p.M688R) in the MSH2 gene, who developed an adrenal cortical carcinoma, a tumor not usually associated with LS. 21225464 2011
Lynch Syndrome
CUI: C4552100
Disease: Lynch Syndrome
0.030 GeneticVariation BEFREE We herein describe a nucleotide change, c.2063T>G in exon 13 of the MSH2 gene, present in families that fulfill the Amsterdam criteria for Lynch syndrome and originate from northern Tenerife (Canary Islands-Spain). 16500024 2006