MSH2, mutS homolog 2, 4436

N. diseases: 490; N. variants: 777
Disease: Colorectal Carcinoma ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs63750875
rs63750875
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C0009402
Disease:
Colorectal Carcinoma 		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
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C0009402
Disease:
Colorectal Carcinoma 		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
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C0009402
Disease:
Colorectal Carcinoma 		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
Entrez Id: 4436
Gene Symbol: MSH2
MSH2
CUI: C0009402
Disease:
Colorectal Carcinoma 		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