Detection of APC gene mutations, in Endoscopic ' Colorectal lesions among Sudanese Patients

Abstract

Colorectal cancer is one of the most significant causes of cancer death with records of high incidence. ln Sudan, for instance, late detection of the disease was found to affect younger age groups. This is a cross sectional prospective study aimed to explore the molecular characterization and the early genetic mutations within different stages of the precancerous and malignant lesions of the colon and rectum, investigating the somatic and the gemi line mutations of the APC gene. 131 Fresh endoscopic tissue biopsies were collected besides blood samples from patients suspected with genetic inherited mutations from the main endoscopic centers in Sudan- Khartoum state during February 2013 to June 2014. DNA was extracted from tissue and blood samples. Moreover, the APC gene was sequenced for the amplified product targeted the region from codon 1260-1358 within the mutation cluster region. (lne hundred and six participants were diagnosed endoscopically with colorectal lesions, 44 (41.5%) showed inflammatory mucosa, 40 (37.7 %) showed tumor and 22 (20.7%) had polyps. For further investigation, 25 endoscopic tissue samples were collected from healthy participants for comparison. In the whole group of patients, the mean age was 45.7 years, 34.2% of tumor patients were less than 50 years old, and 46.8% of the lesions were in the rectum. The highest frequency of tumor patients group was from westem tribes and the lesions were located commonly in the rectum. The '\"‘ Annual Conference ¢-'5" 4.:-'1-4| ‘ell-ll ¢'\~U-‘ll fly Ministry Of Higher Education (4,-4*" ¢-+lL1 H-I-" e=\3=-"Ill U11) &Scientific Research (GCNU*) (Y ~ \V/\ Y/\ ~-‘\ The cross tabulation with Chi square test shows a significant statistical relation between the diagnosis of endoscopy and the histopathological repofls with p value (0.00). The total numbers of SNPs detected in the AFC gene was39, 35 of them were novel newly detected mutations. lt also shows a significant statistical relation among the tumor and polypoid lesions group with P. value: 0.01 (OR: 9.3, Cl 95%: 1.16 - 82.2) and 0.03 (OR: 10, Cl 9s%:1.0- 9s.s,) respectively. The researchers concluded that the rectum is the most common site of cancer within the Sudanese population than other parts of the colon. Moreover, the APC gene mutations differ from those previously reported in other populations and they occur during early stages of the cancer, with apparently high incidence among young ages.