Broader Genetic Testing Guidelines Proposed for Gastric Cancer
A recent study involving over 3,700 gastric cancer patients found that 13.4% carried pathogenic genetic variants, a rate similar to those observed in other cancers already included in genetic testing guidelines. These genetic variants were found not only in genes traditionally linked to hereditary diffuse gastric cancer, such as CDH1 and CTNNA1, but also in genes associated with other cancer syndromes, including those linked to Lynch syndrome, familial adenomatous polyposis, and Peutz-Jeghers syndrome. The findings highlight that a significant proportion of gastric cancer patients may have inherited cancer risks that are currently under-recognized by existing testing criteria.
Current guidelines tend to focus on patients with a strong family history or specific subtypes of gastric cancer, like diffuse gastric cancer, but this study suggests that broader genetic testing could benefit a wider group of patients. Early identification of hereditary cancer syndromes through genetic testing enables personalized risk management, targeted surveillance, and preventive strategies for both patients and their at-risk relatives. The study advocates for expanding genetic testing recommendations to routinely include gastric cancer patients, not just those with a suggestive family history or early onset disease.
Broader testing could help detect pathogenic variants that might otherwise be missed, improving patient outcomes by guiding treatment decisions and family counseling. Genetic counselors play a crucial role in interpreting test results and advising patients on next steps, including cascade testing for relatives. Given that up to 20% of gastric cancers may have a hereditary component, the study’s findings support a shift toward more inclusive genetic evaluation in gastric cancer care.
Ultimately, expanding genetic testing guidelines could lead to earlier detection, better prevention, and more effective management of gastric cancer and related hereditary cancer syndromes.
