MYH, OGG1, MTH1, and APC alterations involved in the colorectal tumorigenesis of Korean patients with multiple adenomas

Abstract

This study was done to characterize base excision repair (BER) genes and adenomatous polyposis coli (APC) alterations in the tumorigenesis of multiple colorectal adenomas in Korean patients. In total, 217 adenomas (mean number = 10) and 117 cancers were available from 143 patients. The heterozygous genotype of OGG1 c.1-18G>T was closely associated with multiple adenoma families (P < 0.001), while MYH A359V mutation exhibited a tendency (P = 0.053). MYH R170G mutation was exclusively identified in one patient. The G:C>T:A transversion or attenuated familial adenomatous polyposis (AFAP) mutations of APC was identified in the specific genotypes of BER variants. Tubular adenomas or adenomas with none-to-mild dysplasia were significantly associated with polymorphic genotypes of OGG1 IVS4-15 and S326C. In addition, large and pedunculated adenomas were more frequent in patients with G:C>T:A transversion and AFAP mutations of APC, respectively. However, BER variants were not associated with mismatch repair or altered p53 protein expression. Conclusively, two novel mutations of MYH and a novel OGG1 polymorphism seemed to be associated with multiple colorectal adenomas in Korean families, differing from those in other ethnic groups. Some BER variants involved in specific APC mutations are associated with characteristics of histogenesis other than altered mismatch repair or p53 pathway.

hOGG1 gene polymorphisms and susceptibility to polycystic ovary syndrome

“…The inactivation or induction of the corresponding TF can modulate the expression of the hOGG1 gene, thus influencing the activity of the protein (31,32). Previous studies revealed that certain types of functional variants in the 5'-UTR of the hOGG1 gene are capable of increasing the risks of diseases, including cancer (9,11,33,34). The present finding suggests that there was no significant correlation between the variants in hOGG1 and the PCOS risk.…”

The hOGG1 gene 5′-UTR variant c.−53G>C contributes to the risk of gastric cancer but not colorectal cancer in the Chinese population

“…The functional variation of the hOGG1 gene has been reported to contribute to a high risk for cancer. In the 5Ј-UTR of the hOGG1 gene, Kim et al (2007) reported that c.¡18G>T may play a role in colorectal cancer in a Korean population, and Ishida et al (1999) indicated that c.¡23A>G was associated with lung cancer in a small Japanese population. The hOGG1 gene p.Ser326Cys is a well-known variation.…”

Two functional variations in 5′-UTR of hoGG1 gene associated with the risk of breast cancer in Chinese

“…However, majority of works on the relationship between variations of the hOGG1 gene and the risk of breast cancer have been focused on c.977C[G in exon7 [8]. Kim and Ishida [9,10] showed that c.-18G[T and c.-23A[G variations in hOGG1 gene could be functional polymorphisms, and play a role in the pathogenesis of multiple adenomas, colorectal cancer, and lung cancer, but inconsistent results have been reported on these variations [11,12]. No study has reported on the relationship between the risk of breast cancer and the polymorphisms in 5-untranslated region (5 0 -UTR) of the hOGG1 gene.…”