Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1553361141
rs1553361141
MSH2
T 0.700 CausalMutation CLINVAR A unique MSH2 exon 8 deletion accounts for a major portion of all mismatch repair gene mutations in Lynch syndrome families of Sardinian origin. 22781090

2013
dbSNP: rs1553361141
rs1553361141
MSH2
T 0.700 CausalMutation CLINVAR Germline novel MSH2 deletions and a founder MSH2 deletion associated with anticipation effects in HNPCC. 17250661

2007
dbSNP: rs1553361141
rs1553361141
MSH2
T 0.700 CausalMutation CLINVAR Germline MSH2 and MLH1 mutational spectrum including large rearrangements in HNPCC families from Poland (update study). 16451135

2006
dbSNP: rs1553361141
rs1553361141
MSH2
T 0.700 CausalMutation CLINVAR Screening for the Lynch syndrome (hereditary nonpolyposis colorectal cancer). 15872200

2005
dbSNP: rs1553361141
rs1553361141
MSH2
T 0.700 CausalMutation CLINVAR Molecular characterization of the spectrum of genomic deletions in the mismatch repair genes MSH2, MLH1, MSH6, and PMS2 responsible for hereditary nonpolyposis colorectal cancer (HNPCC). 15942939

2005
dbSNP: rs1553361141
rs1553361141
MSH2
T 0.700 CausalMutation CLINVAR High frequency of hereditary colorectal cancer in Newfoundland likely involves novel susceptibility genes. 16203774

2005
dbSNP: rs1553361141
rs1553361141
MSH2
T 0.700 CausalMutation CLINVAR Screening for genomic rearrangements of the MMR genes must be included in the routine diagnosis of HNPCC. 14729822

2004
dbSNP: rs1553361141
rs1553361141
MSH2
T 0.700 CausalMutation CLINVAR Genomic deletions in MSH2 or MLH1 are a frequent cause of hereditary non-polyposis colorectal cancer: identification of novel and recurrent deletions by MLPA. 14635101

2003