If someone tests positive for a CDH1 mutation, what happens next

[Anonymous]

If someone tests positive for a CDH1 mutation, what happens next – is stomach removal always required?

[Sana Fathima K S]

A positive result doesn’t mean cancer is present; it means the lifetime risk is significantly elevated, so management is proactive rather than reactive. The main options discussed with the care team are:

*Prophylactic (preventive) total gastrectomy – surgical removal of the stomach before cancer develops, which offers the most definitive risk reduction and is often recommended in adulthood, typically after the age of 20 years, once organ growth is complete
*Enhanced endoscopic surveillance – for those not ready for surgery, using specialized biopsy protocols, since standard endoscopy can miss diffuse-type cancer
*Women with CDH1 mutations are also usually advised to start enhanced breast screening due to the associated lobular breast cancer risk

The right path depends on age, family history severity, personal preference, and a detailed discussion with a clinical geneticist and surgical oncologist – it’s a shared decision, not an automatic surgical mandate.

[Author]

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