Contribution of the MLH1 -93G&gt;A Promoter Polymorphism in Modulating Susceptibility Risk in Malaysian Colorectal Cancer Patients

Zahary, Mohd Nizam; Aziz, Ahmad Aizat Abdul; Kaur, Gurjeet; Hassan, Muhammad Radzi Abu; Sidek, Ahmad Shanwani Mohd; Lee, Yeong Yeh; Mazuwin, Maya; Ankathil, Ravindran

doi:10.7314/apjcp.2013.14.2.619

Cited by 9 publications

(8 citation statements)

References 25 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…For MLH1 rs1800734 A/G polymorphism in prompter, A allele was found to significantly reduce the risk of CRC compared with G allele in Polish98, Spanish104 and Mexican population51. However, Nizam, Z. M. suggested that AG genotype was associated with 3.71 folds increased CRC risk compared with GG genotype in Malaysian105. Other two researches also investigated the relation of rs1800734 polymorphism with CRC risk but no significance was shown in American101 and Canadian97.…”

Section: Mmr Pathway Gene Polymorphisms and Sporadic Crc Susceptibilitymentioning

confidence: 98%

Genetic Polymorphisms of DNA Repair Pathways in Sporadic Colorectal Carcinogenesis

Liu¹,

Zheng²,

Liu³

et al. 2019

J. Cancer

View full text Add to dashboard Cite

DNA repair systems play a critical role in maintaining the integrity and stability of the genome, which mainly include base excision repair (BER), nucleotide excision repair (NER), mismatch repair (MMR) and double-strand break repair (DSBR). The polymorphisms in different DNA repair genes that are mainly represented by single-nucleotide polymorphisms (SNPs) can potentially modulate the individual DNA repair capacity and therefore exert an impact on individual genetic susceptibility to cancer. Sporadic colorectal cancer arises from the colorectum without known contribution from germline causes or significant family history of cancer or inflammatory bowel disease. In recent years, emerging studies have investigated the association between polymorphisms of DNA repair system genes and sporadic CRC. Here, we review recent insights into the polymorphisms of DNA repair pathway genes, not only individual gene polymorphism but also gene-gene and gene-environment interactions, in sporadic colorectal carcinogenesis.

show abstract

Section: Mmr Pathway Gene Polymorphisms and Sporadic Crc Susceptibilitymentioning

confidence: 98%

Genetic Polymorphisms of DNA Repair Pathways in Sporadic Colorectal Carcinogenesis

Liu¹,

Zheng²,

Liu³

et al. 2019

J. Cancer

View full text Add to dashboard Cite

show abstract

“…Colorectal cancer (CRC) is one of the most common cancers worldwide and its burden is increasing in Asian Pacific region countries including Iran (Pourhoseingholi et al, 2009;Somi et al, 2014). CRC exists in a more common sporadic form and less common hereditary form, such as the Lynch syndrome, familial adenomatous polyposis (FAP) and other rare syndromes (Nizam et al, 2013). FAP is a disease inherited in an autosomal dominant fashion, which due to a mutation on chromosome five, leads to the development of up to several thousands of colorectal adenomas and a number of extra colonic manifestation (Poovorawan et al, 2012).…”

Section: Introductionmentioning

confidence: 99%

Evaluation of Endoscopic Characteristics of Upper Gastrointestinal Polyps in Patients with Familial Adenomatous Polyposis

Fatemi

Safaee²,

Pasha³

et al. 2014

Asian Pacific Journal of Cancer Prevention

View full text Add to dashboard Cite

Background: Familial adenomatous polyposis (FAP) is a disease inherited in an autosomal dominant fashion. Most FAP patients develop upper gastrointestinal polyps; especially those in the antrum and duodenum are usually neoplastic. The aim of this study was to evaluate the prevalence of gastroduodenal polyps in Iranian FAP patients. Materials and Methods: 28 patients affected by FAP underwent front-view and side-view endoscopy. Papillary biopsies were performed in all patients. Location of polyps, their number and size, pathology study, patient general information (gender, age, family history of FAP or colorectal cancer and gastroduodenal polyps) were analyzed. Results: Gastric polyps were seen in 39.3 % of patients. Some 72.7% of the affected individuals had fundic gland polyps and 36.36% had hyperplastic polyps. Duodenal adenoma was observed in 25% of patients. While 57% of patients had tubular adenoma with low grade dysplasia, 42.8% showed tubulovillous adenoma with low grade dysplasia. Conclusions: Findings of this study indicated that the prevalence of gastroduodenal polyps in FAP patients is high and dysplasia may be evident in duodenal polyps. Therefore, it appears that routine gastroduodenal endoscopy in FAP patients is necessary.

show abstract

“…SNPs located in the promoter region of the MLH1 gene are sufficient to affect the expression of the gene. For example, the most intensively studied intron SNP rs1800734 (c.-93G>A, upstream variant near 5′ untranslated region) was repeatedly described as pathogenic, increasing the risk of various types of cancer, sporadic CRC and endometrial cancer in particular [ 38 , 39 , 40 , 41 , 42 , 43 ]. The SNP is located in the region essential for the maximum transcriptional activity.…”

Section: Results On Mmr Gene Variantsmentioning

confidence: 99%

DNA Mismatch Repair Gene Variants in Sporadic Solid Cancers

Čaja

Vodičková

Král

et al. 2020

IJMS

View full text Add to dashboard Cite

The phenotypic effects of single nucleotide polymorphisms (SNPs) in the development of sporadic solid cancers are still scarce. The aim of this review was to summarise and analyse published data on the associations between SNPs in mismatch repair genes and various cancers. The mismatch repair system plays a unique role in the control of the genetic integrity and it is often inactivated (germline and somatic mutations and hypermethylation) in cancer patients. Here, we focused on germline variants in mismatch repair genes and found the outcomes rather controversial: some SNPs are sometimes ascribed as protective, while other studies reported their pathological effects. Regarding the complexity of cancer as one disease, we attempted to ascertain if particular polymorphisms exert the effect in the same direction in the development and treatment of different malignancies, although it is still not straightforward to conclude whether polymorphisms always play a clear positive role or a negative one. Most recent and robust genome-wide studies suggest that risk of cancer is modulated by variants in mismatch repair genes, for example in colorectal cancer. Our study shows that rs1800734 in MLH1 or rs2303428 in MSH2 may influence the development of different malignancies. The lack of functional studies on many DNA mismatch repair SNPs as well as their interactions are not explored yet. Notably, the concerted action of more variants in one individual may be protective or harmful. Further, complex interactions of DNA mismatch repair variations with both the environment and microenvironment in the cancer pathogenesis will deserve further attention.

show abstract

Contribution of the MLH1 -93G>A Promoter Polymorphism in Modulating Susceptibility Risk in Malaysian Colorectal Cancer Patients

Cited by 9 publications

References 25 publications

Genetic Polymorphisms of DNA Repair Pathways in Sporadic Colorectal Carcinogenesis

Genetic Polymorphisms of DNA Repair Pathways in Sporadic Colorectal Carcinogenesis

Evaluation of Endoscopic Characteristics of Upper Gastrointestinal Polyps in Patients with Familial Adenomatous Polyposis

DNA Mismatch Repair Gene Variants in Sporadic Solid Cancers

Contact Info

Product

Resources

About