Study finds genetic link for rare intestinal cancer

NIH | APRIL 16, 2015

Heredity accounts for up to 35 percent of small intestinal carcinoid, a rare digestive cancer, according to findings from a team at the National Institutes of Health. The researchers examined families with a history of the disease. Because the disease has long been considered randomly occurring rather than inherited, people with a family history are not typically screened.

Small intestinal carcinoid tumors usually grow slowly without symptoms. It is often too late to reverse the condition once people seek medical attention. The findings suggest that people with a family history of the disease should be screened for it. The researchers hope this research empowers thousands of at-risk people with a way to prevent these tumors from becoming a devastating disease.

The study screened 181 people from 33 families, each with at least two cases of small intestinal carcinoid. The researchers discovered the disease in 23 people who had not yet developed symptoms, and successfully removed all tumors in 21 of those people.

Genetic linkage analysis revealed a target DNA region shared by all affected members of a particularly large family. Genome sequencing narrowed that finding to a gene defect passed from one generation to the next, suggesting that the gene is an inherited risk factor for the disease.

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