RARE DISEASERESEARCH ATLAS
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ORPHA:144

Lynch syndrome

low confidenceDisorder

Publications

17,847

Trials

78

Interventional, condition-specific

Researchers

1,822

Distinct authors in sample

Gene link

EPCAM, EXO1, MLH1

Definitive

Readiness

3/6

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.”

3/6 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

    17,847 matched papers (13,283 in last 10 years) Source

  3. Phenotype characterisedNot checked

    Not yet enriched from Monarch / HPO

  4. Animal modelNot checked

    Not yet enriched from Monarch / Alliance

  5. Orphan designationNot checked

    FDA/EMA orphan-drug designation not enriched yet

  6. Interventional trialPresent

    78 matched on ClinicalTrials.gov (25 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)

Not enriched in this build — Monarch phenotype joins were not run for this record.

Animal models (Monarch / Alliance)

Not enriched in this build.

Literature

Is anyone studying this?

17,847

17,847 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=5449) is 41.

17,847 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 41 (publications denominator n=5449).

13,283 in the last 10 years · low confidence

Phrase hits: 17,847 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,822

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 S5 papers · 2026

    University of California San Diego, La Jolla, USA.

    Papers in Europe PMC
  2. 02
    Katona BW5 papers · 2026

    University of Pennsylvania Perelman School of Medicine, Philadelphia, USA.

    Papers in Europe PMC
  3. 03
    Seppälä TT5 papers · 2026

    Faculty of Medicine and Health Technology, Tampere University and Tays Cancer Centre, Tampere, Finland; Applied Tumor Genomics, Research Programs Unit and Abdominal Center, University of Helsinki, Helsinki, Finland; Department of Gastroenterology and Alimentary Tract Surgery, Tampere University Hospital, Tampere, Finland.

    Papers in Europe PMC
  4. 04
    Stoffel EM5 papers · 2026

    University of Michigan, Ann Arbor, USA.

    Papers in Europe PMC
  5. 05
    Akagi K4 papers · 2026

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

    Papers in Europe PMC
  6. 06
    Hüneburg R4 papers · 2026

    National Center for Hereditary Tumor Diseases, University Hospital Bonn, Bonn, Germany.

    Papers in Europe PMC
  7. 07
    Puccini A4 papers · 2026

    Department of Biomedical Sciences, Humanitas University, Milan, Italy.

    Papers in Europe PMC
  8. 08
    Abe A3 papers · 2026

    Department of Gynecology, Cancer Institute Hospital of Japanese Foundation for Cancer Research, 3-8-1 Ariake, Koto-Ku, Tokyo, 135-8550, Japan.

    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
    Dominguez-Valentin M3 papers · 2026

    Department of Tumor Biology, Institute of Cancer Research, The Norwegian Radium Hospital, 0379, Oslo, Norway.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

78

interventional trials for this specific condition

78 interventional trials matched this specific condition name; 25 currently recruiting in our sample.

Data as of 27 July 2026

78 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 98.1th percentile).

low confidence · 98.1th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Observational and natural-history studies

54 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

Where to find support

We do not yet link condition-specific patient organisations. These umbrella groups support undiagnosed and ultra-rare families:

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"

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" OR "EPCAM" OR "EXO1" OR "MSH3"

Recall-expansion terms: EPCAM, EXO1, MSH3

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

Study-type breakdown: 78 interventional · 54 observational · 0 expanded access. Only interventional studies enter the trial headline.

Query health: ok — strategies attempted: phrase, recall-expansion; with hits: phrase, recall-expansion

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 (17847) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

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