Gene: MSH2 ×
Source: BEFREE ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs63750875
rs63750875
MSH2
0.040 GeneticVariation BEFREE Lifetime risks of CRC and EC in MSH2 A636P carriers are high even after adjusting for ascertainment. 21419771

2011
dbSNP: rs63750875
rs63750875
MSH2
0.040 GeneticVariation BEFREE Genetic counseling and testing for the MSH2 A636P mutation is indicated for Ashkenazi Jewish women with an endometrial cancer, especially if the cancer is detected before the age of 70 years in women with a personal or family history of colorectal cancer. 18674656

2008
dbSNP: rs63750875
rs63750875
MSH2
0.040 GeneticVariation BEFREE We previously described a founder mutation, MSH2*1906G >C (A636P) that causes HNPCC in 8/1345 (0.59%) of Ashkenazim with colorectal cancer. 17414604

2007
dbSNP: rs63750875
rs63750875
MSH2
0.040 GeneticVariation BEFREE Although rare in the general population, the A636P mutation is detected in up to 7% of Ashkenazi Jewish patients with early age-of-onset colorectal cancer, and may account for up to one third of HNPCC in the Ashkenazi Jewish population. 15516845

2004
dbSNP: rs374399939
rs374399939
MSH2
0.010 GeneticVariation BEFREE NTRK gene mutations were identified in MSH2/MLH1-mutant CRC including NTRK1 I699V, NTRK2 P716S, and NTRK3 R745L. 28591715

2017
dbSNP: rs17217772
rs17217772
MSH2
0.010 GeneticVariation BEFREE The role of one of the most frequently reported MMR gene VUS, MSH2 c.380A>G (p.Asn127Ser), is especially interesting because its concomitant defect with another variant could finally explain its recurrent occurrence in CRC patients. 22581703

2012
dbSNP: rs1064795747
rs1064795747
MSH2
0.010 GeneticVariation BEFREE We conclude that the I157T variant of CHEK2 increases the risk of colorectal cancer among MMR-negative, HNPCC/HNPCC-related families in Poland. 19876921

2010
dbSNP: rs1114167857
rs1114167857
MSH2
0.010 GeneticVariation BEFREE We report a new germline mutation in exon 13 of the hMSH2 gene (c.2081T>C; F694S) in a patient diagnosed with colorectal carcinoma. 21156417

2010
dbSNP: rs780178752
rs780178752
MSH2
0.010 GeneticVariation BEFREE MSH2 118T>C and MSH6 159C>T promoter polymorphisms and the risk of colorectal cancer. 17942459

2007
dbSNP: rs63749984
rs63749984
MSH2
0.010 GeneticVariation BEFREE Association studies identified a new MLH1 variant (415G-->C, resulting in the amino acid substitution D132H) in approximately 1.3% of Israeli individuals with CRC self-described as Jewish, Christian and Muslim. 15184898

2004