NCT04253106

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

Liquid Biopsies (blood, Gastric Fluid) for the Personalized Management of Patients with Hereditary Diffuse Gastric Cancer: a Pilot Project

• Status: Completed
• Phase: N/A
• Study type: Interventional
• Enrollment: 16 (actual)
• Sponsor: Assistance Publique - Hôpitaux de Paris · Academic / Other
• Sex: All
• Age: 18 Years
• Healthy volunteers: Not accepted

Summary

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.

Detailed description

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.

Conditions

• Hereditary Diffuse Gastric Cancer

Interventions

Type	Name	Description
GENETIC	Liquid biopsies (blood, gastric fluid).	Next generation sequencing of a panel of diffuse gastric cancer genes, methylation analysis. Samples collected during routine screening endoscopy.

Timeline

• Start date: 2020-11-26
• Primary completion: 2024-04-10
• Completion: 2024-04-10
• First posted: 2020-02-05
• Last updated: 2024-09-23

Locations

1 site across 1 country: France