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Multigene Germline Panel Testing in Gastric Cancer Patients in a Portuguese Population
B Mourato1,2, B Cordeiro2, F Costa Pinto2
1NOVA National School of Public Health, Public Health Research Centre, Comprehensive Health Research Center, CHRC, LA-REAL, CCAL, NOVA University Lisbon, Lisbon, Portugal, Lisbon, Portugal.
Cancer Medicine
|March 19, 2026
Summary
Nearly 12% of Portuguese gastric cancer patients tested with Multigene Germline Panel Testing (MGPT) harbored pathogenic germline variants, often in mismatch repair genes. This highlights the importance of MGPT in identifying hereditary gastric cancer beyond CDH1 mutations.
Area of Science:
- Oncology
- Genetics
- Gastroenterology
Background:
- Gastric cancer is a complex disease influenced by both environmental and genetic factors.
- Hereditary predisposition to gastric cancer is increasingly identified through Multigene Germline Panel Testing (MGPT).
- The prevalence and clinical impact of germline variants in Portuguese gastric cancer patients require further characterization.
Purpose of the Study:
- To determine the prevalence and spectrum of germline pathogenic/likely pathogenic variants in Portuguese gastric cancer patients.
- To explore clinicopathological correlations of these germline variants.
- To assess the utility of MGPT in identifying hereditary gastric cancer in a real-world setting.
Main Methods:
- A pilot retrospective observational study involving 51 gastric cancer patients who underwent MGPT between 2020 and 2025.
- Genetic testing utilized validated 15 or 30 gene panels.
- Clinical, pathological, and survival data were collected from medical records.
Main Results:
- Germline pathogenic or likely pathogenic variants were found in 6 patients (11.8%), involving MLH1, MSH6, PMS2, CHEK2, and BLM.
- Variants of uncertain significance (VUS) were identified in 11.8% of patients.
- MGPT-positive patients were significantly younger at diagnosis (median 48 vs. 76 years) and more likely to have mixed-type gastric cancer compared to MGPT-negative cases.
Conclusions:
- Approximately 12% of MGPT-tested gastric cancer patients in this Portuguese cohort carried pathogenic germline variants, primarily in mismatch repair genes, CHEK2, and BLM.
- These findings underscore the genetic heterogeneity of gastric cancer, extending beyond CDH1 mutations.
- Integrating MGPT into clinical practice can identify at-risk individuals missed by current screening criteria, though larger studies are needed.
