CDH1 gene changes and gastric cancer

CDH1 normally helps cells adhere to one another. Some harmful variants weaken that function and create an inherited cancer predisposition, but a test result is not the same as a cancer diagnosis.

The wording of the laboratory report matters. A pathogenic or likely pathogenic inherited variant may guide surveillance, preventive discussions and testing for adult relatives. A variant of uncertain significance does not establish inherited risk and is generally not used alone to make major treatment or preventive decisions.

CDH1-associated disease can grow as scattered cells within the stomach lining, so early areas may be difficult to see. A specialist team interprets the result alongside personal history, family history, examination findings and any tissue diagnosis.

Arrange review with a clinical genetics service and a gastroenterology or upper gastrointestinal cancer team. Bring the complete laboratory report rather than a summary. They can confirm whether the finding was inherited, explain what it means for relatives, and discuss detailed endoscopic surveillance or risk-reducing stomach removal surgery when appropriate.

If cancer has already been diagnosed, management depends on its location, extent, pathology and your general health. Surgery and medicines may have different roles. Nutrition support is especially relevant before and after stomach surgery.

Contact a clinician promptly for persistent difficulty swallowing, repeated vomiting, black stools, vomiting blood, unexplained weight loss, ongoing upper abdominal pain or a continuing loss of appetite. Seek urgent care for vomiting blood, black tar-like stools, fainting, marked weakness or severe abdominal pain. These features need assessment regardless of a genetic result.

Ask whether the report identifies a pathogenic, likely pathogenic or uncertain variant; whether testing confirms it is inherited; what stomach surveillance method is suitable; whether preventive surgery should be considered; and which relatives should be offered genetic counselling.