Rare & Orphan Lab · DeCure for X

DeCure for Familial adenomatous polyposis 1

DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for familial adenomatous polyposis 1 — screening already-approved drugs against its 6-gene Open Targets disease module to publish open-access research. Research is fast; the path to publication is funded in milestone stages.

Disease module6 genesLead labRare & Orphan
All cures
Rare & OrphanDOID:0080409$DeCureRare

The disease map

Disease moduleFamilial adenomatous polyposis 1 maps to a 6-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 1 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

mutY DNA glycosylase (MUTYH)MUTYH 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 sf4drag to rotate · scroll to zoom

RCSB Protein Data Bank · entry 8FAY · 1.91 Å · ligand IRON/SULFUR CLUSTER (SF4). Experimental structure, not a prediction.

What the evidence adds up to

Patients with familial adenomatous polyposis require surgical intervention at some point in their lives, with polyposis burden and distribution being the main considerations for surgical strategy. Prophylactic removal of the rectum and colon is often required, though sparing the rectum at the index surgery is safe in select patients. Diagnosis is often apparent from phenotype and family history, but not always.

In patients with familial adenomatous polyposis who develop desmoid tumours, mesenteric desmoid tumours are the main cause of death in those with desmoid tumours, whereas recurrent cancers are the main cause of death in those without desmoid tumours. One reported case involved a 28-year-old female with familial adenomatosis coli and giant desmoid tumours of the mesentery following proctocolectomy who died abruptly six months postoperatively, probably related to extensive desmoid tumours. Risk factors for desmoid tumours include female sex, APC mutation site 3 to 1440, and previous history of surgery.

Non-surgical treatment options for extensive desmoid tumours include radiotherapy, systemic chemotherapy (doxorubicin plus dacarbazine), biologics such as imatinib, non-steroidal anti-inflammatory agents, and anti-hormonal agents, all yielding variable responses. Anti-estrogen agents, alone or in combination with nonsteroidal anti-inflammatory drugs, had an overall response rate of 51% according to a systematic analysis of 168 desmoid tumours. In a group of 10 familial adenomatous polyposis patients with extensive mesenteric desmoid tumours that were not completely resected, seven patients were alive with ordinary lifestyles for 17 to 133 months (median 101 months) after diagnosis, showing partial response or stable disease to tamoxifen with or without goserelin acetate. The graft preservation rate after multi-visceral transplantation for extensive abdominal desmoid tumours is approximately 50%.

What is still missing are further studies consolidating evidence for the efficiency and safety of both surgical and non-surgical regimens for familial adenomatous polyposis patients with extensive desmoid tumours, and the knotty subjects of severe morbidity, high graft failure and mortality, recurrent desmoid tumours, and accessibility of bowel transplantation remain unresolved.

Evidence

Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.

ANZ Journal of Surgery · 2017 · 23 citations · open access

Dispelling misconceptions in the management of familial adenomatous polyposis

AbstractPatients with familial adenomatous polyposis require surgical intervention at some point in their lives. The diagnosis is often apparent from their phenotype and family history, however, this is not always the case. Many factors can influence the surgical strategy although the polyposis burden and distribution remain the main consideration. While prophylactic removal of the rectum and colon is often required, sparing the rectum at the index surgery is safe in select patients. This article aims to dispel misconceptions in the diagnosis and treatment of patients with familial adenomatous polyposis.

https://doi.org/10.1111/ans.13919
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

https://doi.org/10.1093/jnci/82.17.1430
Cancer Research and Treatment · 2015 · 0 citations · open access

Reply to Commentary on “Clinical Characteristics and Adequate Treatment of Familial Adenomatous Polyposis Combined with Desmoid Tumors”

Abstract[1] reported a case with familial adenomatosis coli (FAP)-related giant desmoid tumors (DTs) of the mesentery following proctocolectomy, and I mostly agree with the authors' inoperable mortality. They reported a 28-year-old female with FAP and DTs abruptly aggravated to death at 6 months postoperatively which was probably related with extensive DTs. Similarly, mesenteric DTs were the main cause of death in FAP patients with DTs, whereas recurrent cancers were the main cause of death in those without DTs, in our previous study The patient seems to carry three potential risk factors for DTs including female, APC mutation site 3! to 1440, and previous history of surgery Herein, the current case gives us an important lesson for careful attention about possible DTs during operation and immediately after proctocolectomy, particularly in FAP patients with risk factors. Although the response might be unpredictable for complicated DTs, non-surgical treatment options would be immediately provided if any symptoms or signs were identified during early postoperative period. For the extensive DTs, nonsurgical treatment options including radiotherapy, systemic chemotherapy including doxorubicin plus dacarbazine, biologics such as imatinib, non-steroidal anti-inflammatory agents, and anti-hormonal agents, have been provided to yield variable responses. Among these options, anti-estrogen agents, alone or in combination with nonsteroidal anti-inflammatory drugs, were identified with an overall response rate of 51% according to a systematic analysis using a total of 168 DTs We have experienced estrogen receptor antagonist combined with or without luteinizing hormone releasing hormone agonist to stabilize extensive mesenteric DTs. In a total of 10 FAP patients accompanying extensive mesenteric DTs which were not completely resected, seven patients have been alive well leading ordinary lifestyles for 17-133 months (median, 101 months) after diagnosis, showing partial response or stable disease to tamoxifen with or without goserelin acetate. On the other hand, several groups presently reported the graft preservation rate after multi-visceral transplantation as approximately 50% in patients with extensive abdominal DTs Although bowel transplantation is considered as a life-saving procedure, knotty subjects must be preferentially verified to be an established practice, i.e., severe morbidity, high graft failure and mortality, recurrent DTs, and accessibility. Conclusively, further studies including surgical and non-surgical modalities treating FAP patients with extensive DTs are needed to consolidate the evidence for the efficiency and safety of respective regimen.

https://doi.org/10.4143/crt.2015.050

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.

DeCure is a research and publication project, not medical advice and not a treatment. "DeCure for X" describes a research goal, not a claim that a cure exists. Backing a cure is a contribution to fund the research — it is not an investment, and confers no yield, royalty, equity or IP ownership. Papers are published open-access by the DeCure.ai DAO.