Project description:FAP is an autosomal-dominant inherited disease caused by germline mutations in the APC gene 1. Two major FAP phenotypes, CFAP and AFAP, can be distinguished based on polyp numbers and age of onset. CFAP is characterized by the presence of hundreds to thousands of polyps. About half of these patients develop adenomas by age 15, and 95% develop adenomas by age 35. AFAP patients exhibit a milder phenotype than CFAP patients; AFAP is characterized by fewer polyps, later adenoma onset, and lower CRC risk. We used microarrays to analyze chromosome abberation of organids established from FAP patients.
Project description:The genetic alterations of intestinal carcinogensis have been observed in multiple comparative studies. However, transcriptomic characteristics of at-risk muocsa and adenomas from patients with FAP are still lacking. Therefore, our aim was to characterize the transcriptomic profile of at-risk mucosa of FAP patients.
Project description:FAP is an autosomal-dominant inherited disease caused by germline mutations in the APC gene 1. Two major FAP phenotypes, CFAP and AFAP, can be distinguished based on polyp numbers and age of onset. CFAP is characterized by the presence of hundreds to thousands of polyps. About half of these patients develop adenomas by age 15, and 95% develop adenomas by age 35. AFAP patients exhibit a milder phenotype than CFAP patients; AFAP is characterized by fewer polyps, later adenoma onset, and lower CRC risk. We used microarrays to analyze the expression profiles of organoids established from three CFAP and two AFAP patients.
Project description:Background and study aim The relative risks of duodenal adenocarcinoma and ampullary carcinoma in Familial Adenomatous Polyposis (FAP) have been estimated 100 to 330 times higher than in general population. However risk factors, including a genotype-phenotype association for duodenal cancer in FAP has not been fully understood. The aim of this study is to determine risk factors associated with the development of advanced duodenal polyposis and ampullary adenomas in colectomized patients with FAP.
Project description:DNA methylation of 23 familial adenomatous polyposis tumors. Infinium HumanMethylation450 BeadChip was used to obtain DNA methylation profiles across 485,577 CpG sites.