DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for Bannayan-Riley-Ruvalcaba syndrome — screening already-approved drugs against its 1-gene Open Targets disease module to publish open-access research. Research is fast; the path to publication is funded in milestone stages.
Disease moduleBannayan-Riley-Ruvalcaba syndrome maps to a 1-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 bannayan-riley-ruvalcaba syndrome 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
phosphatase and tensin homolog (PTEN) — PTEN 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…
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RCSB Protein Data Bank · entry 1D5R · 2.1 Å · ligand L(+)-TARTARIC ACID (TLA). Experimental structure, not a prediction.
What the evidence adds up to
In two kindreds studied in 1996, the characteristic findings of Bannayan-Riley-Ruvalcaba syndrome included multiple subcutaneous lipomas, vascular malformations, penile and vulvar lentigines, verrucae, and acanthosis nigricans. Macrocephaly with normal ventricular size, mental retardation, central nervous system vascular malformations, intestinal polyposis, skeletal abnormalities, and thyroid tumours were the most common systemic features. The authors noted similarities between BRRS and Cowden disease and raised the possibility of a common genetic pathogenesis.
In 1998, three new mutations in PTEN were reported in five patients with BRRS from three unrelated families, confirming that Cowden disease and BRRS are allelic disorders at the PTEN locus on chromosome 10q. A 2012 case report described an 11-year-old boy with BRRS confirmed by a germline PTEN mutation who developed extensive progressive spinal epidural lipomatosis compressing and dislocating the dural sac, so far without neurological deficits. The authors advised that patients with BRRS are probably at risk for progressive spinal epidural lipomatosis and should be monitored with neurological examinations and neuroimaging follow-up.
A 2019 case report from Bangladesh described an 11-year-old male child with recurrent per rectal bleeding, hamartomatous colonic polyposis, multiple subcutaneous lipomas on the anterior abdominal wall, macrocephaly, and intellectual impairment. The bleeding polyps were removed by colonoscopic polypectomy. The authors noted that only several dozen cases had been reported in the medical literature at that time.
A 2018 conference abstract reported an everolimus trial for a patient with BRRS and progressive lipomatosis. The abstract states that BRRS is associated with germline PTEN mutations and belongs to the PTEN hamartoma tumour syndrome, and that the PTEN protein plays a significant role in the PTEN/PI3K/AKT/mTOR signalling pathway. No results of the trial—no response, no survival data, no sample size—are given in the abstract. What is still missing is any published evidence from controlled trials, any data on whether mTOR inhibition alters the natural history of lipomatosis or polyposis in BRRS, and any systematic patient stratification by mutation type or disease severity.
Evidence
Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.
Archives of Dermatology · 1996 · 112 citations
Clinicopathologic Findings in the Bannayan-Riley-Ruvalcaba Syndrome
AbstractBACKGROUND: The term Bannayan-Riley-Ruvalcaba syndrome has been proposed to reflect the clinical overlap of 3 conditions previously described as separate entities, each inherited in an autosomal dominant fashion. They are the Riley-Smith, Bannayan-Zonana, and Ruvalcaba-Myhre-Smith syndromes. OBSERVATIONS: We studied 2 kindreds with the Bannayan-Riley-Ruvalcaba syndrome. Characteristic cutaneous findings included multiple subcutaneous lipomas and vascular malformations, lentigines of the penis and vulva, verrucae, and acanthosis nigricans. Macrocephaly with normal ventricular size, mental retardation, central nervous system vascular malformations, intestinal polyposis, skeletal abnormalities, and thyroid tumors were the most common systemic featues. A striking clinical finding in 1 patient was widespread verrucous changes of both lips that histologically showed epidermal hyperplasia with papillomatosis and hyperkeratosis. Biopsy specimens of facial papules demonstrated the histological features of both syringomas and trichilemmomas. Lentiginous hyperplasia of the epidermis with increased pigment in the basal layer and a slight increase in the number of melanocytes were seen in biopsy specimens of the penile lentigines. CONCLUSIONS: The histologic findings of both the facial lesions and the pigmented macules of the penis in the Bannayan-Riley-Ruvalcaba syndrome have not, to our knowledge, been reported previously. The similarities between the Bannayan-Riley-Ruvalcaba syndrome and Cowden disease raise the possibility of a common genetic pathogenesis for these 2 diseases.
Journal of Medical Genetics · 1998 · 108 citations · open access
Mutations of PTEN in patients with Bannayan-Riley-Ruvalcaba phenotype.
AbstractWe report three new mutations in PTEN, the gene responsible for Cowden disease in five patients with Bannayan-Riley-Ruvalcaba syndrome from three unrelated families. This finding confirms that Cowden disease, a dominant cancer predisposing syndrome, and Bannayan-Riley-Ruvalcaba syndrome, which includes macrocephaly, multiple lipomas, intestinal hamartomatous polyps, vascular malformations, and pigmented macules of the penis, are allelic disorders at the PTEN locus on chromosome 10q.
Bangladesh Journal of Child Health · 2019 · 0 citations · open access
Bannayan-Riley-Ruvalcaba Syndrome, Rare Etiology of Intestinal Hamartomatouspolyposis: A case report
AbstractBannayan-Riley-Ruvalcaba syndrome (BRRS) is a rare autosomal dominant congenital disorder, characterized bymacrocephaly, lipomas, hamartomas, and pigmented macule in genitalia.Several dozen cases have been reported in the medical literature, but no case has been reported in Bangladesh. We report a case of BRRS in a 11-year-old male child with recurrent per rectal bleeding with hamartomatouscolonic polyposis & multiple subcutaneous lipomas on the anterior abdominal wall.In addition, patient had macrocephaly, intellectual impairment.Bleeding polyps were removed by colonoscopic polypectomy.
 Bangladesh J Child Health 2019; VOL 43 (1) :62-65
Zurich Open Repository and Archive (University of Zurich) · 2012 · 0 citations · open access
Bannayan-Riley-Ruvalcaba syndrome with progressive spinal epidural lipomatosis
AbstractWe present a case study of an 11-year-old boy with Bannayan-Riley-Ruvalcaba syndrome (BRRS) with macrocephaly, lipomatosis, and penile freckles. BRRS was confirmed by a germline mutation in the phosphatase and tensin homolog (PTEN) gene. Repeated spinal imaging demonstrated an extensive progressive spinal epidural lipomatosis, compressing and dislocating the dural sac, so far without neurological deficits. Patients with BRRS are probably a risk for progressive spinal epidural lipomatosis and should be carefully monitored by neurological examinations and eventually neuroimaging follow-up studies.
P 295. Everolimus Trial for a Patient with Bannayan–Riley–Ruvalcaba’s Syndrome and Progressive Lipomatosis
AbstractBackground: Bannayan–Riley–Ruvalcaba’s syndrome (BRRS; OMIM#153480) is a rare entity with the typical symptoms of macrocephaly, lipoma, developmental delay, and pigmented macules of the glans penis in affected male individuals. BRRS is associated with germline mutations of the PTEN gene and belongs to the PTEN hamartoma tumor syndrome. The protein produced from the PTEN gene is a tumor suppressor which plays a significant role in signaling pathways (PTEN/PI3K/AKT/mTOR) important for regulation of cellular proliferation, migration, and apoptosis. Patients with BRRS commonly develop tumors and lipomatosis with infiltrative growth.
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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