Bmpr1a details
What Bmpr1a shows
BMPR1A is a gene that provides instructions for a receptor in the bone morphogenetic protein signaling pathway, which helps control how cells in the digestive tract grow and divide. This test looks for inherited changes in the gene, usually when you or a relative have had several juvenile polyps or a family history of juvenile polyposis syndrome. A disease-causing variant is linked to juvenile polyposis, which raises the risk of polyps and of some digestive cancers. Your result describes a variant you carry for life, not a level that changes. A negative result does not rule out every inherited cause, so results are best interpreted with genetic counseling and your family history.
Tests that include Bmpr1a
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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