A pathogenic SMAD4 result means juvenile polyposis syndrome, and it may also mean hereditary hemorrhagic telangiectasia (HHT). This patient guide explains what the result says about your chance of developing gastrointestinal polyps and colorectal cancer, which HHT features to watch for, what screening to discuss with your doctor, and why each of your children has a 50/50 chance of inheriting the same change.

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