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ORPHA:26106

Hereditary diffuse gastric cancer

low confidenceDisorder

Also known as: FDGC · Familial diffuse cancer of stomach · Familial diffuse gastric cancer · HDGC · Hereditary diffuse cancer of stomach · Hereditary diffuse gastric adenocarcinoma

Query health: suspect — Only one of 2 strategies returned hits (phrase).

Publications

1,624

Trials

3

Interventional, condition-specific

Researchers

1,345

Distinct authors in sample

Gene link

CDH1, IL1B

Definitive

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

diffuse gastric cancer is a rare epithelial tumor of the stomach, characterized by the development of diffuse (signet ring cell) gastric cancer at a young age, associated with germline heterozygous mutations of CDH1, MAP3K6 and CTNNA1 genes. In early stages it presents with non-specific and vague symptoms, in advanced stages it may cause nausea and vomiting, dysphagia, loss of appetite, abdominal mass or weight loss. Women have an increased risk of lobular breast cancer as well.

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)

familial diffuse cancer of stomach · familial diffuse gastric cancer · hereditary diffuse cancer of stomach · hereditary diffuse gastric adenocarcinoma · hereditary diffuse gastric cancer

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 — CDH1, IL1B

  2. LiteraturePresent

    1,624 matched papers (1,063 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

    3 matched on ClinicalTrials.gov

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 (CDH1, IL1B).

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?

1,624

1,624 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.

1,624 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).

1,063 in the last 10 years · low confidence

Phrase hits: 1,624 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,345

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
    Davis JL17 papers · 2025

    Surgical Oncology Program, Center for Cancer Research, NCI, NIH, Bethesda, Maryland.

    Papers in Europe PMC
  2. 02
    Fitzgerald RC10 papers · 2026

    Early Cancer Institute, University of Cambridge, Cambridge, UK.

    Papers in Europe PMC
  3. 03
    Oliveira C10 papers · 2026

    Instituto de Investigação e Inovação em Saúde & Institute of Molecular Pathology and Immunology, University of Porto, Porto, Portugal.

    Papers in Europe PMC
  4. 04
    Di Pietro M9 papers · 2026

    Early Cancer Institute, University of Cambridge, Cambridge, CB2 0XZ, UK. md460@cam.ac.uk.

    Papers in Europe PMC
  5. 05
    Gallanis AF9 papers · 2025

    Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, MD 20892, United States.

    Papers in Europe PMC
  6. 06
    Gamble LA9 papers · 2025

    Surgical Oncology Program, Center for Cancer Research, NCI, NIH, Bethesda, Maryland.

    Papers in Europe PMC
  7. 07
    Corso G7 papers · 2025

    Division of Breast Surgery, IEO European Institute of Oncology, IRCCS, Milan, Italy.

    Papers in Europe PMC
  8. 08
    Heller T7 papers · 2025

    National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, Maryland.

    Papers in Europe PMC
  9. 09
    Magnoni F7 papers · 2025

    Division of Breast Surgery, IEO European Institute of Oncology, IRCCS, Milan, Italy.

    Papers in Europe PMC
  10. 10
    Samaranayake SG7 papers · 2025

    Surgical Oncology Program, Center for Cancer Research, NCI, NIH, Bethesda, Maryland.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

3

interventional trials for this specific condition

3 interventional trials matched this specific condition name; none in our sample are currently recruiting.

Data as of 27 July 2026

3 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 85.1th percentile).

low confidence · 85.1th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

No currently recruiting studies in the matched set. Open the same search on ClinicalTrials.gov.

Observational and natural-history studies

3 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.

None of the matched observational studies is currently listed as 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.

"Hereditary diffuse gastric cancer" OR "Familial diffuse cancer of stomach" OR "Familial diffuse cancer of the stomach" OR "Familial diffuse gastric cancer" OR "Hereditary diffuse cancer of stomach" OR "Hereditary diffuse cancer of the stomach" OR "Hereditary diffuse gastric adenocarcinoma"

Run this search on Europe PMC

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

"Hereditary diffuse gastric cancer" OR "Familial diffuse cancer of stomach" OR "Familial diffuse cancer of the stomach" OR "Familial diffuse gastric cancer" OR "Hereditary diffuse cancer of stomach" OR "Hereditary diffuse cancer of the stomach" OR "Hereditary diffuse gastric adenocarcinoma" OR "IL1B"

Recall-expansion terms: IL1B

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: 3 interventional · 3 observational · 0 expanded access. Only interventional studies enter the trial headline.

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

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: FDGC; HDGC

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • 2 synonym(s) dropped by stoplist (may under-count)
  • No label/synonym collisions with other diseases in this corpus
  • Publication count (1624) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-26T23:20:04.905Z