DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for familial adenomatous polyposis 4 — screening already-approved drugs against its 2-gene Open Targets disease module to publish open-access research. Research is fast; the path to publication is funded in milestone stages.
Disease moduleFamilial adenomatous polyposis 4 maps to a 2-gene Open Targets module — the target space DeCure's AI scientist screens approved drugs against.
DeCure.ai methodSignature reversal (LINCS) plus network proximity (STRING) rank already-approved drugs likely to perturb this module — the same engine that produces DeCure.ai's repurposing hypotheses.
Repurposing thesisScreening approved medicines against this disease module, then publishing the evidence for the strongest candidate. Known pharmacology and human exposure data make the first question sharper — they do not establish safety or efficacy in a new indication.
Research record
01
ResearchComing soon
Candidate research + dossier — target rationale, drug-repurposing thesis and evidence pack.proof: Published dossier + on-chain hash
02
ValidationComing soon
In-vitro biological validation at a contract research org (CRO).proof: CRO contract + in-vitro report
03
Peer review & paperComing soon
Peer-reviewed paper published open-access (preprint + journal).proof: DOI + open-access link + on-chain hash
Current lead
No approved-drug candidate for familial adenomatous polyposis 4 is corroborated in the literature DeepSearch retrieved. Some conditions are managed with non-pharmacological care — a device, surgery or physical therapy — rather than a medicine; that may be the case here, or the literature we found may simply be too sparse yet to support a drug-repurposing angle.
Molecular view
dihydrofolate reductase (DHFR) — DHFR is one of the genes genetically linked to this disease in Open Targets — shown as context, not as a drug target we're pursuing: no approved-drug candidate for this disease is yet corroborated in the literature we found.
Loading structure…
helix sheet ndpdrag to rotate · scroll to zoom
RCSB Protein Data Bank · entry 4M6J · 1.201 Å · ligand NADPH DIHYDRO-NICOTINAMIDE-ADENINE-DINUCLEOTIDE PHOSPHATE (NDP). Experimental structure, not a prediction.
What the evidence adds up to
In a 2009 study of 25 unrelated Italian patients with familial adenomatous polyposis, truncating germline mutations in the APC gene were detected in approximately 80 percent of classical cases and approximately 10 percent of attenuated cases. The investigators identified specific APC mutations in 10 probands, including eight truncating mutations (four novel, four known) and two splicing mutations. One novel missense mutation in exon 15 was found to activate an exonic splicing enhancer control sequence. Additionally, 11 MUTYH gene mutations were identified in 7 patients who lacked a dominant family history of polyposis. The authors concluded that messenger alterations could account for some cases without germline APC or MUTYH mutations, and that genotype-phenotype correlations in MUTYH-associated polyposis remain very complex.
A 2007 study of six unrelated Turkish families with familial adenomatous polyposis used heteroduplex analysis and DNA sequencing to identify three different APC mutations. One was a known mutation, and two were novel: 1018T>C and 1309delGAAAA. The 1018T>C change is a silent mutation that does not alter the codon’s meaning, but the ESEfinder program predicted it creates new exonic splicing enhancer motifs. The authors framed this as contributing to the APC mutation spectrum and to potential biomarkers for early diagnosis in Turkish patients.
A 1990 book review of *Familial Adenomatous Polyposis* edited by Lemuel Herrera is noted but provides no original data.
No drug, treatment, or intervention is mentioned in any of these abstracts. What remains missing is any clinical trial testing a repurposed drug in familial adenomatous polyposis, any prospective data on polyp regression or cancer prevention, and any patient stratification beyond mutation screening. Funding for such trials and a clear molecular target for drug intervention have not been established from these genetic studies alone.
Evidence
Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.
Diseases of the Colon & Rectum · 2009 · 26 citations
Implication of Adenomatous Polyposis Coli and MUTYH Mutations in Familial Colorectal Polyposis
AbstractPURPOSE: Familial adenomatous polyposis is an autosomal dominantly inherited syndrome characterized by hundreds or thousands of colorectal polyps and a high risk of colorectal cancer at a young age. Truncating germline mutations in the adenomatous polyposis coli gene are detected in approximately 80 percent of patients with classical familial adenomatous polyposis and in approximately 10 percent of the attenuated familial adenomatous polyposis patients. METHODS: We investigated the adenomatous polyposis coli and MUTYH genes mutations in a well-characterized series of 25 unrelated Italian patients with familial adenomatous polyposis. RESULTS: We characterized the specific adenomatous polyposis coli gene mutation in 10 probands, and identified eight truncating mutations (4 novel and 4 known mutations) and two splicing mutations. One of these, a novel missense mutation in exon 15, activates an exonic splicing enhancer control sequence. Moreover, 11 MUTYH gene mutations have been identified in 7 patients without a dominant family history of polyposis. CONCLUSIONS: This study enlarges the genotype-phenotype correlations of familial adenomatous polyposis and suggests that messenger alterations could be responsible for a subset of familial adenomatous polyposis cases without germ-line adenomatous polyposis coli or MUTYH gene mutations. It also confirms that genotype-phenotype correlations in MUTYH-associated polyposis are very complex.
Perinatal Detection of Familial Adenomatous Polyposis
AbstractBACKGROUND: Hepatoblastoma is an uncommon fetal neoplasm that may represent an isolated malignancy or a component of a familial cancer or syndromic diagnosis. CASE: A large fetal liver mass was detected on routine ultrasound examination of a 23-year-old woman with thyroid nodules and hypertension. Inferior vena cava compression prompted delivery; postnatal biopsy revealed hepatoblastoma. Maternal thyroid biopsy revealed papillary carcinoma. Neonatal and maternal cytomolecular analysis revealed APC gene disruption at 5q22.2. Pedigree analysis exposed multigenerational colon cancer and thyroid cancer, which in conjunction with genetic testing is consistent with familial adenomatous polyposis. CONCLUSION: This is a novel means of familial adenomatous polyposis diagnosis. Obstetricians and perinatologists should be alert for familial cancer or syndromic diagnoses presenting as fetal neoplasms.
JNCI Journal of the National Cancer Institute · 1990 · 0 citations
BOOK REVIEWS
AbstractJournal Article BOOK REVIEWS Get access Familial Adenomatous Polyposis . Lemuel Herrera , ed. New York : Alan R. Liss, Inc. , 1989 , 430 pp. $129.50. HANS E. KAISER HANS E. KAISER Department of Pathology, University of Maryland, School of Medicine 10 S. Pine St. Baltimore, MD 21201 Search for other works by this author on: Oxford Academic PubMed Google Scholar JNCI: Journal of the National Cancer Institute, Volume 82, Issue 17, 5 September 1990, Page 1430, https://doi.org/10.1093/jnci/82.17.1430 Published: 05 September 1990
Diseases of the Colon & Rectum · 2007 · 0 citations
The Mutation Spectrum of the APC Gene in Turkish Patients with Familial Adenomatous Polyposis
AbstractPURPOSE: Familial adenomatous polyposis, an autosomal-dominant disease characterized by the presence of 100 or more colorectal adenomatous polyps, results from mutations in the adenomatous polyposis coli tumor suppressor gene. This study was designed to investigate adenomatous polyposis coli gene mutations in members of Turkish families with familial adenomatous polyposis to constitute an adenomatous polyposis coli mutation spectrum for the Turkish population and to determine specific biomarkers for use in the early diagnosis of familial adenomatous polyposis. METHODS: We investigated adenomatous polyposis coli gene mutations in six unrelated families with familial adenomatous polyposis by using heteroduplex analysis and DNA sequencing. RESULTS: We identified three different mutations in six families. Of these one is known and two are novel: 1018T>C and 1309delGAAAA. The mutation of a T to C transversion at codon 1018 does not cause an alteration in the meaning of the codon; however, it was determined that this silent mutation does cause the formation of new exonic splicing enhancers (ESEs) motifs on a mutated sequence by using ESEfinder program. CONCLUSIONS: This study contributes to enlarging the adenomatous polyposis coli gene mutations spectrum and to defining new biomarkers for the early diagnosis of Turkish patients with familial adenomatous polyposis.
Disease module: DeepOracle (Open Targets). Structures: RDKit from PubChem SMILES. Literature: retrieved by DeepSearch across 234,678,978 indexed works (targeted per-candidate search), resolved on OpenAlex.
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