Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs63750875
rs63750875
0.030 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
0.030 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
0.030 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: rs1064795747
rs1064795747
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: rs780178752
rs780178752
0.010 GeneticVariation BEFREE MSH2 118T>C and MSH6 159C>T promoter polymorphisms and the risk of colorectal cancer. 17942459

2007