Molecular and genetic atlas of gastric mucosa from individuals with pathogenic germline variants

Molecular and genetic atlas of gastric mucosa from individuals with pathogenic germline variants - GENGC

Status

Recruiting

Phases

Unknown

Study type

Observational

Source

DRKS

Registry ID

DRKS00036755

Enrollment

1200

Registered

2025-05-21

Start date

2025-07-01

Completion date

Unknown

Last updated

2026-08-03

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

C16

Interventions

Group 1: Persons with a proven pathogenic germline variant (ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, PALB2, PTEN, RAD51C, RAD51D, STK11, TP53) at the Charité Familial Breast and Ovarian Cancer Ce

Eligibility

Sex/Gender

All

Age

18 Years to No maximum

Inclusion criteria

Inclusion criteria: - Indication for gastroscopy - Study cohort: confirmed pathogenic germline variant (see above)

Exclusion criteria

Exclusion criteria: - Post gastrectomy - Refusal of endoscopy - Increased risk of bleeding when taking a biopsy (e.g. anticoagulation that cannot be paused or coagulation disorders) and possibly a greatly increased risk of sedation (e.g. terminal heart failure) - Pregnancy

Design outcomes

Primary

Measure	Time frame
The main hypothesis is that individuals in Germany with pathogenic germline variants (pV) in BRCA and associated genes have a higher risk of developing gastric premalignant/malignant lesions than individuals who do not carry pathogenic variants in the risk genes listed below. In this study, individuals are classified as having a pathogenic germline variant if at least one pathogenic variant was detected in the TruRisk gene panel®: ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, PALB2, PTEN, RAD51C, RAD51D, STK11, TP53. Primary clinical endpoint (EP): 1) Prevalence of (pre-)malignant gastric lesions (combined EP: premalignant and malignant gastric lesions) in individuals with pathogenic germline variants in above mentioned genes with and without H. pylori infection in routine histopathologic diagnosis.	—

Measure

Time frame

The main hypothesis is that individuals in Germany with pathogenic germline variants (pV) in BRCA and associated genes have a higher risk of developing gastric premalignant/malignant lesions than individuals who do not carry pathogenic variants in the risk genes listed below. In this study, individuals are classified as having a pathogenic germline variant if at least one pathogenic variant was detected in the TruRisk gene panel®: ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, PALB2, PTEN, RAD51C, RAD51D, STK11, TP53. Primary clinical endpoint (EP): 1) Prevalence of (pre-)malignant gastric lesions (combined EP: premalignant and malignant gastric lesions) in individuals with pathogenic germline variants in above mentioned genes with and without H. pylori infection in routine histopathologic diagnosis.

—

Secondary

Measure	Time frame
The secondary hypothesis is that aberrantly activated signaling pathways and additional somatic gene variants with the presence of H. pylori in the gastric tissue of individuals with pV play a role in gastric carcinogenesis. Secondary clinical endpoints: 1) Characterization of healthy mucosa and premalignant and malignant lesions using routine histopathological diagnostics, OLGA/OLGIM system, gene and protein analyses e.g. mutation analysis using DNA sequencing and pathway investigation using scRNA-seq. 2) Characterization of the mucosa and cultured gastric organoids and stromal cell cultures from individuals with pV. Investigation of inflammatory and pro-carcinogenic signaling pathways such as NF-?B and Wnt as well as genetic (DNA sequencing) and molecular-functional (scRNA-seq) changes in cell culture. 3) Characterization of the fecal microbiome in individuals with identified (pre-)malignant lesions (16S sequencing).	—

Measure

Time frame

The secondary hypothesis is that aberrantly activated signaling pathways and additional somatic gene variants with the presence of H. pylori in the gastric tissue of individuals with pV play a role in gastric carcinogenesis. Secondary clinical endpoints: 1) Characterization of healthy mucosa and premalignant and malignant lesions using routine histopathological diagnostics, OLGA/OLGIM system, gene and protein analyses e.g. mutation analysis using DNA sequencing and pathway investigation using scRNA-seq. 2) Characterization of the mucosa and cultured gastric organoids and stromal cell cultures from individuals with pV. Investigation of inflammatory and pro-carcinogenic signaling pathways such as NF-?B and Wnt as well as genetic (DNA sequencing) and molecular-functional (scRNA-seq) changes in cell culture. 3) Characterization of the fecal microbiome in individuals with identified (pre-)malignant lesions (16S sequencing).

—

Countries

Germany

Contacts

Public ContactMichael Sigal

Charité - Universitätsmedizin Berlin, Medizinische Klinik m.S. Hepatologie und Gastroenterologie

michael.sigal@charite.de+49 30 450 553 022

Outcome results

None listed

Source: DRKS (via WHO ICTRP) · Data processed: Aug 10, 2026