H. Orimo et al., Association between single nucleotide polymorphisms in the hMSH3 gene and sporadic colon cancer with microsatellite instability, J HUM GENET, 45(4), 2000, pp. 228-230
The association between three single nucleotide polymorphisms (SNPs) in the
hMSH3 gene and sporadic colon cancer with microsatellite instability (MSI)
was analyzed. Of the three SNPs observed in this population, SNPs at resid
ues 235 and 693 were novel, while that at residue 3133 was previously descr
ibed. The SNPs at residues 235 and 3133 caused amino acid substitutions, V7
9I and T1045A. respectively. Wt analyzed the allele frequencies of the thre
e SNPs in samples from 19 patients with sporadic colon cancer with MSI and
90 healthy controls. We found that the V79 allele frequency was significant
ly higher in the tumor samples than in controls. In addition, the frequency
of the G693 allele showed a higher trend in the tumor samples than in cont
rols. These results indicated that some SNPs in the hMSH3 gene were associa
ted with colon cancer with MSI.