The fluctuation of APC gene in WNT signaling with adenine deletion of adenomatous polyposis coli, is associated in colorectal cancer

Abstract

Colorectal cancer is one of the most important malignancies in the classification of gastrointestinal cancers. One of the predisposing factors at molecular level for this cancer is via WNT signaling which is associated with the vast numbers of different genes. Thus, in this study, we aimed to investigate whether Adenomatous Polyposis Coli gene (APC) mutation of rs41115in two locations such as 132.002 and 131.989 acts as a trigger or cause of colorectal cancer. Relatively, 30 blood samples of colorectal cancer patients and 30 normal blood samples as control group after colonoscopy and also confirmation of pathology report at Rohani Hospital in Babol (Iran) were investigated. The primers were designed in order to be included the rs41115 to identify the particular polymorphisms of gene. The polymerase chain reaction (PCR direct sequencing method) was used. Conclusively, deletion of adenine in two specific locations such as 131.989 and 132.002 has been identified, but there was no relationship between rs41115 polymorphisms located in adenomatous polyposis coli gene and colorectal cancer.

Increased Expression of Type-I Collagen in Malignant Colorectal Lesion and Positive Correlations with Clinical Factors

“…The onset an development of CRC are induced by a combination of genetic and environmental factors, whose study is essential for the establishment of new prevention strategies. 5 Although most genes involved in CRC have been well characterized, the influence of additional environmental factors on this disease remains unclear. 4 When analyzing the patients' clinical profile, we observed a higher frequency of individuals aged !…”

“…Factors such as age and family history, as well as genetic and environmental factors, have a positive correlation with CRC. [3][4][5] Most lesions follow a specific sequence of mutations, the "adenoma-carcinoma sequence": 4 initially, the normal epithelium is transformed into a hyperproliferative tissue; later, it loses organization and structure and acquires the capacity to form adenomatous polyps, which can evolve to CRC. 3 The microenvironment of the tumor has demonstrated an important regulatory role in CRC pathogenesis.…”

The APC gene rs41115 polymorphism is associated with survival in Iranian colorectal cancer patients

“…About 75% of both germline and somatic mutations are located on exon 15; this gene consists of more than 8,000 nucleotides and spans 21 exons 18 . However, APC gene somatic mutations may cause non-functional proteins, and even these small defects play an important role in colorectal cancer pathogenesis 19 . We aimed to investigate common somatic mutations in exon 15 of APC genes in colorectal cancer patients in East Azerbaijan, Iran.…”

“…It is well-recognized that the main product of the APC gene is involved mainly in the Wnt signaling pathway and has diverse functions in this pathway beyond regulation of Wnt components 18 . Also, APC gene mutation mainly affects proteins in the Wnt signaling pathway, and can lead to cell division excess in a few cancers, including colorectal cancer 19 . However, in CRC patients the APC mutation was reported as diverse variants 20 .…”

“…Although many research studies were performed on the APC germline mutation pathogenesis, especially in FAP, conclusions about mutations and/or DNA polymorphisms such as SNP (single nucleotide polymorphism) pattern, as well as pathogenesis of the APC gene, have not been clear in CRC 27,28 . However, a few studies have revealed that the APC gene may have a different performance, with a few detected SNPs in exon 15 of this tumor suppressor gene as a germline mutation 19,[29][30][31][32] . A most recent study on common gene mutation profile in CRCs showed point mutations in exon 16 of APC gene with a 19.7% prevalence 29,[33][34][35] .…”