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

DNA methylation analysis in familial adenomatous polyposis

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.

2019-01-15 | GSE109507 | GEO

DNA methylation analysis in familial adenomatous polyposis

Project description:DNA methylation analysis in familial adenomatous polyposis

| PRJNA431265 | ENA

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

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

| PRJNA436023 | ENA

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

Trial In Pediatric Patients With Familial Adenomatous Polyposis (FAP)

Project description:To test whether celecoxib can be used to prevent colon polyp formation in children with familial adenomatous polyposis (FAP).

| 2048402 | ecrin-mdr-crc

Discovery of Novel Therapeutic Target STMN1 and Drug Investigation in Familial Adenomatous Polyposis

Project description:Familial adenomatous polyposis (FAP), an autosomal dominant disorder that predisposes to colorectal cancer, remains an area of unmet clinical need. This study aimed to develop a novel STMN1-targeting therapy for FAP. Using patient-derived organoids from seven FAP families and RNA sequencing, we identified significant STMN1 upregulation in FAP tissues, correlating with poor prognosis. Through drug repurposing and pharmacophore-based virtual screening of the DrugBank database, we optimized the menadione scaffold to develop novel small-molecule inhibitors. JYL-6 emerged as a leading compound in primary screens using FAP organoids. In Apcmin/+ mice, JYL-6 potently suppressed STMN1 expression and phosphorylation, reduced intestinal polyp number and burden, extended survival, and demonstrated a favorable systemic safety profile. Our results nominate STMN1 as a promising therapeutic target in FAP and highlight JYL-6 as a candidate with substantial translational promise, offering a new strategic direction for FAP treatment.

2025-12-02 | PXD071495 |

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