RARE DISEASERESEARCH ATLAS
Open navigation menu

ORPHA:1333

Familial pancreatic carcinoma

high confidenceDisorder

Also known as: Familial pancreatic cancer

Publications

5,243

92.5th percentile

Trials

5

Interventional, condition-specific

Researchers

1,289

Distinct authors in sample

Gene link

FANCC, STK11

Definitive

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

Familial pancreatic carcinoma is defined by the presence of pancreatic cancer (PC) in two or more first-degree relatives.

How rare: 1-9 / 1 000 000 — roughly one to nine people per million. In a city the size of Kolkata, perhaps a few dozen.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

Additional Mondo synonyms (7)

familial pancreatic cancer · familial pancreatic carcinoma · hereditary exocrine pancreatic carcinoma · hereditary pancreatic cancer · hereditary pancreatic carcinoma · pancreatic cancer, somatic · pancreatic carcinoma, somatic

Research stages

Trial readiness signals

Where this condition sits on an open-data research pipeline — not how close a treatment is, and not medical advice. Empty stages often mean “not in these databases under this Mondo ID,” not “impossible.”

4/6 stages with a signal

An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.

  1. Gene identifiedPresent

    Definitive — FANCC, STK11

  2. LiteraturePresent

    5,243 matched papers (3,156 in last 10 years) Source

  3. Phenotype characterisedPresent

    26 HPO annotations (e.g. Abdominal pain; Back pain; Jaundice) Source

  4. Animal modelNot found

    No Alliance genotype “model of” associations via Monarch for these Mondo IDs

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  6. Interventional trialPresent

    5 matched on ClinicalTrials.gov (3 recruiting in sample)

Biology

Genes and phenotypes

Gene–disease validity from GenCC, plus phenotypes and animal models joined from Monarch Initiative via Mondo ID — not a clinical diagnosis aid.

Do we know what causes it?

Yes — we know a specific gene responsible (FANCC, STK11).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

26

Associated phenotypes · MONDO:0015278

  • Abdominal pain
  • Back pain
  • Jaundice
  • Lymphadenopathy
  • Intestinal pseudo-obstruction

Showing 5 of 26 — open Monarch for the full list.

Animal models (Monarch / Alliance)

None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.

Monarch fetch 2026-07-29

Therapies

Designations, candidates, and chemicals

FDA OOPD and EMA orphan designations, Open Targets clinical candidates, and CTD chemical associations via MyDisease.info. These never change the interventional-trial headline.

Orphan designation (FDA · EMA)

No designation matched this disease via UMLS or preferred name on the FDA OOPD mirror or EMA orphan register. Absence here is not proof that none exists under another wording.

Open Targets candidates

No drugs or clinical candidates returned for this Mondo ID on Open Targets.

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

5,243

5,243 papers — among the better-studied rare conditions, though still a fraction of common-disease literature (breast cancer: over 700,000). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

5,243 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 59 (publications denominator n=3967).

3,156 in the last 10 years · high confidence · 92.5th percentile (publications denominator)

Phrase hits: 1,923 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,289

Distinct author names in 200 sampled papers — named people below.

Who's working on it?

People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.

  1. 01
    Bartsch DK7 papers · 2024

    Department of Visceral, Thoracic and Vascular Surgery, Philipps University, D-35043 Marburg, Germany.

    Papers in Europe PMC
  2. 02
    Canto MI7 papers · 2026

    Division of Gastroenterology, The Johns Hopkins University School of Medicine, Baltimore, MD.

    Papers in Europe PMC
  3. 03
    Goggins M7 papers · 2026

    4 Johns Hopkins University, Baltimore, MD.

    Papers in Europe PMC
  4. 04
    He J7 papers · 2025

    Department of Surgery, Johns Hopkins University School of Medicine, Baltimore, MD, USA.

    Papers in Europe PMC
  5. 05
    Matsubayashi H7 papers · 2025

    Hiroyuki Matsubayashi, Division of Endoscopy, Shizuoka Cancer Center, Shizuoka 411-8777, Japan.

    Papers in Europe PMC
  6. 06
    Morizane C7 papers · 2025

    Department of Hepatobiliary and Pancreatic Oncology, National Cancer Center Hospital, Tokyo 1040045, Japan. cmorizan@ncc.go.jp.

    Papers in Europe PMC
  7. 07
    Brand RE6 papers · 2026

    Division of Gastroenterology, University of Pittsburgh Medical Center, Pittsburgh, PA.

    Papers in Europe PMC
  8. 08
    Bruno MJ6 papers · 2024

    Department of Gastroenterology and Hepatology, Erasmus MC Cancer Institute, University Medical Center Rotterdam, Rotterdam, the Netherlands.

    Papers in Europe PMC
  9. 09
    Hruban RH6 papers · 2025

    The Sol Goldman Pancreatic Cancer Research Center, Department of Pathology, Johns Hopkins University, Baltimore, United States.

    Papers in Europe PMC
  10. 10
    Katona BW6 papers · 2025

    From the Division of Gastroenterology and Hepatology, University of Pennsylvania, Philadelphia, PA.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

5

interventional trials for this specific condition

5 interventional trials matched this specific condition name; 3 currently recruiting in our sample.

Data as of 11 September 2026 · last trial check 28 July 2026

5 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 89.2th percentile).

high confidence · 89.2th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

5 interventional trials matched after quoted-phrase search and title/condition post-filter.

Observational and natural-history studies

14 observational studies match this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.

Recruiting or not-yet-recruiting

Open the complete matched search on ClinicalTrials.gov

Other registries (secondary)

Broader net from EU CTIS, ISRCTN, and ICTRP when available — deduped against ClinicalTrials.gov IDs already counted above. Dual-model LLM relevance gates what we keep. These rows are not added to the interventional headline.

raw 12 · after dedupe 12 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 12 · dropped 0 · fetched 2026-07-29

Source notes: ictrp: Error: ICTRP public search unavailable (WHO portal is SPA-only; SOAP needs partnership). Tried: https://apps.who.int/tri

No secondary-registry studies passed dual-model relevance for this condition name (after dedupe).

Uncertain / not reviewed (12)

Where to find support

Condition-specific patient organisations, when Orphanet lists them, are on the disease’s Orphanet page. We also link umbrella groups that support undiagnosed and ultra-rare families.

Orphanet entry for Familial pancreatic carcinoma — check Associations / patient organisations on that page.

India — NPRD

Last verified 2026-07-26

This ORPHAcode is not on our curated NPRD list (direct or Mondo-parent match). That does not decide clinical eligibility; families in India should ask a notified Centre of Excellence about current coverage.

Hand-curated for this project. ORPHAcode mappings are best-effort and may be incomplete or imprecise for umbrella categories. Parent (Mondo) matches mean the policy lists a broader category — confirm eligibility with a Centre of Excellence. Financial entitlements summarised from public policy statements and may change. This is not official government guidance.

How we counted this

Europe PMC query (preferred label + any corrected label + Orphanet and Mondo exact synonyms, stoplisted; unioned with resolved MeSH labels when available). UMLS / OMIM / NCIT cross-references are stored on the overview but are not added to the query string.

("Familial pancreatic carcinoma" OR "Familial pancreatic cancer" OR "hereditary exocrine pancreatic carcinoma" OR "hereditary pancreatic cancer" OR "hereditary pancreatic carcinoma" OR "pancreatic cancer, somatic" OR "pancreatic carcinoma, somatic") OR ("FANCC" OR "FANCC syndrome" OR "FANCC-related")

Run this search on Europe PMC

ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):

"Familial pancreatic carcinoma" OR "Familial pancreatic cancer" OR "hereditary exocrine pancreatic carcinoma" OR "hereditary pancreatic cancer" OR "hereditary pancreatic carcinoma" OR "pancreatic cancer, somatic" OR "pancreatic carcinoma, somatic"

Interventional trials matched via: phrase (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).

Study-type breakdown: 5 interventional · 14 observational · 0 expanded access. Only interventional studies enter the trial headline.

Query health: ok — strategies attempted: phrase; with hits: phrase

Run this search on ClinicalTrials.gov

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • No synonyms dropped by stoplist
  • No label/synonym collisions with other diseases in this corpus

Ingested 2026-07-26T17:05:10.045Z