Liquid Biopsies for the Personalized Management of Patients With Hereditary Diffuse Gastric Cancer

  • End date
    Feb 27, 2024
  • participants needed
  • sponsor
    Assistance Publique - Hôpitaux de Paris
Updated on 27 January 2021


Activating somatic mutations and methylation profiles identified by liquid biopsies could identify CDH1 and CTNNA1 pathogenic variants carriers with invasive diffuse gastric cancer undetectable by upper G-I endoscopy.


Carriers of germline pathogenic variants in the CDH1 and CTNNA1 genes have the Hereditary Diffuse Gastric Cancer Syndrome. Asymptomatic carriers have at high lifetime risk of diffuse gastric cancer (30-70%). Screening upper gastrointestinal endoscopy, even with multiple random biopsies, misses signet ring cell cancer foci. Invasive cancers can thus go undetected. There is therefore a recommendation of total risk-reducing gastrectomy, at least in carriers with a family history of gastric cancer. Novel screening strategies are needed. In this pilot project, the investigators will perform liquid biopsies of both blood and gastric fluid in asymptomatic carriers who refuse gastrectomy and in controls. The investigators aim to show that somatic mutations in a panel of genes involved in gastric cancer and methylation profiles are detected in a subset of carriers, and not in controls. These could be indicative of invasive cancer undetected by endoscopy, and would thus be a strong argument for risk-reducing gastrectomy. On the contrary, in the absence of somatic mutations in liquid biopsies, endoscopic surveillance could continue.

Condition Hereditary Diffuse Gastric Cancer
Treatment Liquid biopsies (blood, gastric fluid).
Clinical Study IdentifierNCT04253106
SponsorAssistance Publique - Hôpitaux de Paris
Last Modified on27 January 2021


Yes No Not Sure

Inclusion Criteria

Patient>18 years old
CDH1 or CTNNA1 germline pathogenic variant
No history of diffuse gastric cancer
French social security
Ability to understand and willingness to sign a written informed consent document
Patients > 18years old
Patients with no oncological history

Exclusion Criteria

for both arms
Patients with cancer being treated
Patients with metastatic cancer
Medical contraindication to general anesthesia or FOGD (bleeding disorder, pregnant women )
Patients under guardianship or curator
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