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Expression data and SNP data of Familial adenomatous polyposis (FAP) organoids

ABSTRACT: This SuperSeries is composed of the SubSeries listed below.

ORGANISM(S): Homo sapiens

PROVIDER: GSE109814 | GEO | 2019/12/31

REPOSITORIES: GEO

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SNP data of Familial adenomatous polyposis (FAP) organoids

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.

2019-12-31 | GSE109813 | GEO

Expression data of Familial adenomatous polyposis (FAP) organoids

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.

2019-12-31 | GSE109812 | GEO

SNP data of Familial adenomatous polyposis (FAP) organoids

Project description:SNP data of Familial adenomatous polyposis (FAP) organoids

| PRJNA432077 | ENA

Familial Adenomatous Polyposis (FAP) and Other Polyposis Syndromes.

Project description:There have been significant advances in our knowledge about the molecular changes that precede and accompany the development of inherited predispositions to colorectal cancer. In this review the clinical relationship to the molecular changes associated with the polyposis syndromes is presented. The aim is to put into context the diverse findings that have been shown to be associated with the development of colorectal cancer in persons who harbor a predisposition to develop disease at unusually early ages. The main focus will be on familial adenomatous polyposis as it serves as a model disease and is the most extensively studied of all of the polyposis syndromes. In addition some information is provided that explains the relationship between a germline change in one gene and what consequences that can have for a particular cell and the development of disease.

| S-EPMC2840009 | biostudies-other

Expression data and SNP data of Familial adenomatous polyposis (FAP) organoids

Project description:Expression data and SNP data of Familial adenomatous polyposis (FAP) organoids

| PRJNA432073 | ENA

Expression data of Familial adenomatous polyposis (FAP) organoids

Project description:Expression data of Familial adenomatous polyposis (FAP) organoids

| PRJNA432078 | ENA

Mucosa samples from patients with Familial Adenomatous Polyposis (FAP)

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.

2021-08-19 | GSE136044 | GEO

Bcl9 and Pygo synergize downstream of Apc to effect intestinal neoplasia in mouse models recapitulating Familial Adenomatous Polyposis

Project description:This SuperSeries is composed of the SubSeries listed below.

2018-12-31 | GSE121145 | GEO

Gene Expression Changes in the Duodenal Adenoma-Carcinoma Sequence in Familial Adenomatous Polyposis (FAP)

Project description:Duodenal cancer is a leading cause of death in patients with FAP after colectomy. While cancer risk is up to 36% in Spigelman Stage IV patients, a significant proportion of cases occur in lower stage patients. Genome wide interrogation of APC-deficient mice revealed candidate biomarkers whose altered expression accompanied the evolution of small intestinal neoplasia. To date, no similar investigations have been pursued in FAP patients. In this study, a genome-wide transcriptional analysis of duodenal specimens from FAP patients was performed in order to describe changes occurring in the duodenal adenoma-carcinoma sequence in FAP

2018-02-27 | GSE111156 | GEO

Adenomatous Polyposis Coli Gene Mutations in 22 Chinese Pedigrees with Familial Adenomatous Polyposis.

Project description:BACKGROUND Familial adenomatous polyposis (FAP), which has a very high tendency of progression to colorectal cancer, is mainly caused by mutations of the adenomatous polyposis coli (APC) gene. This study systematically screened the APC mutations and observed the correlation of APC mutations with clinical manifestations of FAP. MATERIAL AND METHODS Eighty subjects (probands and their family members of 22 FAP pedigrees) were enrolled, underwent abdominal ultrasound, computed tomography, and colonoscopic examinations, and were assessed for APC mutations between January 2010 and June 2015 at Tianjin Union Medical Center. Peripheral blood was collected from subjects, and DNA was extracted and screened for APC mutations using multiplex ligation-dependent probe amplification for large-fragment deletions or PCR-denaturing high-performance liquid chromatography with DNA sequencing for micromutations. RESULTS Nineteen of 22 FAP pedigrees were found to have mutations of APC, and 17 types APC mutations were identified. All the mutations were heterozygosity with autosomal dominant inheritance. APC mutations included 8 caused by frameshift, 3 by aberrant splicing, 2 by missense mutation, 2 by nonsense mutation, and 2 by large-fragment deletion. Frameshift mutation was the most common type of APC mutation, and Coding DNA Sequence 15 was the most common mutation site. Five novel APC mutations, including 1 with large-fragment deletion, were identified. CONCLUSIONS We systematically screened 17 mutations of APC from 22 Chinese pedigrees with FAP. This study will broaden the spectrum of known APC germline mutations and help understand the types and distribution of APC mutations among Chinese patients with FAP.

| S-EPMC6542301 | biostudies-literature

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