Smad4 details
What Smad4 shows
SMAD4 is a tumor suppressor gene that helps control cell growth through a signaling pathway in the body. This test looks at the SMAD4 gene in your blood for inherited variants, as part of a juvenile polyposis panel with BMPR1A. A harmful (pathogenic) variant causes juvenile polyposis syndrome, in which many polyps develop in the digestive tract and the risk of colorectal and stomach cancer is raised. SMAD4 variants are also linked to hereditary hemorrhagic telangiectasia, a blood vessel condition. The result is a lifelong variant you were born with, not a level that changes, and it is best interpreted with a genetic counselor.
Tests that include Smad4
This test looks for specific genetic changes in the BMPR1A and SMAD4 genes that are linked to Juvenile Polyposis syndrome (JPS). People with JPS have a higher chance of developing colorectal cancer (40-50%) and stomach cancer (up to 21%, especially if they have many polyps in their stomach). They also have a slightly increased risk for cancers of the small intestine and pancreas. Identifying these genetic mutations can help manage and reduce the risk of cancer.
- Bmpr1a A genetic test for inherited variants in the BMPR1A gene, which are a known cause of juvenile polyposis syndrome, a condition causing digestive tract polyps.
- Smad4 Genetic test of the SMAD4 gene, a tumor suppressor; harmful variants cause juvenile polyposis syndrome and raise the risk of digestive tract polyps and cancer.
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