RARE DISEASERESEARCH ATLAS
Open navigation menu

ORPHA:144

Lynch syndrome

low confidenceDisorder

Publications

61,949

Trials

64

Interventional, condition-specific

Researchers

1,684

Distinct authors in sample

Gene link

EPCAM, EXO1, MLH1

Definitive

Readiness

5/6

Stages with a signal

Clinical definition (Orphanet)

A rare form of nonpolyposis colon cancer (HNPCC) characterized by predisposition to a wide variety of cancers, including neoplasms of the digestive tract, urinary tract, endometrium, ovary, brain, and prostate, as well as sebaceous skin tumors. LS-associated tumors are typically characterized by the presence of microsatellite instability (MSI) and loss of expression of MMR proteins in tumor tissue.

How rare: How common this is has not been clearly measured.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (5)

Hereditary colorectal endometrial cancer syndrome · Hereditary non-polyposis colon cancer (hMSH2, hMLH1, hPMS1, hPMS2) · Hereditary nonpolyposis colon cancer (hMSH2, hMLH1, hPMS1, hPMS2) · familial non-polyposis colon cancer (hMSH2, hMLH1, hPMS1, hPMS2) · hereditary defective mismatch repair syndrome

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.”

5/6 stages with a signal

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

  1. Gene identifiedPresent

    Definitive — EPCAM, EXO1, MLH1, MSH2, MSH3…

  2. LiteraturePresent

    61,949 matched papers (46,864 in last 10 years) Source

  3. Phenotype characterisedPresent

    73 HPO annotations (e.g. Colon cancer; Endometrial carcinoma; Ovarian neoplasm) Source

  4. Animal modelPresent

    8 genotype models (Mus musculus, Rattus norvegicus) Source

  5. Orphan designationNot found

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

  6. Interventional trialPresent

    64 matched on ClinicalTrials.gov (23 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 (EPCAM, EXO1, MLH1…).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

73

Associated phenotypes · MONDO:0005835

  • Colon cancer
  • Endometrial carcinoma
  • Ovarian neoplasm
  • Hereditary nonpolyposis colorectal carcinoma
  • Adenomatous colonic polyposis

Showing 5 of 73 — open Monarch for the full list.

Animal models (Monarch / Alliance)

8

Model associations linked to this Mondo ID

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?

61,949

61,949 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.

61,949 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).

46,864 in the last 10 years · low confidence

Phrase hits: 17,847 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,684

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
    Gupta S6 papers · 2026

    University of California San Diego, La Jolla, USA.

    Papers in Europe PMC
  2. 02
    Katona BW6 papers · 2026

    Division of Gastroenterology and Hepatology, Department of Medicine, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA Ken.Cadwell@Pennmedicine.upenn.edu Bryson.Katona@pennmedicine.upenn.edu.

    Papers in Europe PMC
  3. 03
    Akagi K5 papers · 2026

    Division of Molecular Diagnosis and Cancer Prevention, Saitama Cancer Center, Saitama, Japan.

    Papers in Europe PMC
  4. 04
    Seppälä TT5 papers · 2026

    Department of Gastroenterology and Alimentary Tract Surgery, and TAYS Cancer Centre, Tampere University Hospital, Wellbeing Services County of Pirkanmaa, Tampere, Finland.

    Papers in Europe PMC
  5. 05
    Stoffel EM5 papers · 2026

    University of Michigan, Ann Arbor, USA.

    Papers in Europe PMC
  6. 06
    Dungan M4 papers · 2026

    Division of Gastroenterology and Hepatology, Department of Medicine, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA.

    Papers in Europe PMC
  7. 07
    Yamamoto G4 papers · 2026

    Division of Molecular Diagnosis and Cancer Prevention, Saitama Cancer Center, Saitama, Japan.

    Papers in Europe PMC
  8. 08
    Burke CA3 papers · 2026

    Department of Gastroenterology, Hepatology and Nutrition, Cleveland Clinic, Cleveland, OH.

    Papers in Europe PMC
  9. 09
    Burn J3 papers · 2026

    Newcastle University Translational & Clinical Research Institute, Centre for Life, Newcastle upon Tyne, UK; The Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK. Electronic address: john.burn@newcastle.ac.uk.

    Papers in Europe PMC
  10. 10
    Dardenne A3 papers · 2026

    Sorbonne Université, Service de Chirurgie digestive, Hôpital Saint-Antoine, APHP, Paris, France.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

64

interventional trials for this specific condition

64 interventional trials matched this specific condition name; 23 currently recruiting in our sample.

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

64 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 97.8th percentile).

low confidence · 97.8th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Observational and natural-history studies

50 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 25 · after dedupe 25 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 25 · 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 (25)

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 Lynch syndrome — 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.

("Lynch syndrome" OR "Hereditary colorectal endometrial cancer syndrome" OR "Hereditary non-polyposis colon cancer (hMSH2, hMLH1, hPMS1, hPMS2)" OR "Hereditary nonpolyposis colon cancer (hMSH2, hMLH1, hPMS1, hPMS2)" OR "familial non-polyposis colon cancer (hMSH2, hMLH1, hPMS1, hPMS2)" OR "hereditary defective mismatch repair syndrome") OR ("EPCAM" OR "EPCAM syndrome" OR "EPCAM-related" OR "EXO1" OR "EXO1 syndrome" OR "EXO1-related" OR "MSH3" OR "MSH3 syndrome" OR "MSH3-related")

Run this search on Europe PMC

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

"Lynch syndrome" OR "Hereditary colorectal endometrial cancer syndrome" OR "Hereditary non-polyposis colon cancer (hMSH2, hMLH1, hPMS1, hPMS2)" OR "Hereditary nonpolyposis colon cancer (hMSH2, hMLH1, hPMS1, hPMS2)" OR "familial non-polyposis colon cancer (hMSH2, hMLH1, hPMS1, hPMS2)" OR "hereditary defective mismatch repair syndrome"

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: 64 interventional · 50 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 short or not clearly distinctive
  • No synonyms dropped by stoplist
  • No label/synonym collisions with other diseases in this corpus
  • Publication count (61949) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-26T12:38:04.985Z