Pathogenic variants (disease-causing) in the KIT gene cause primary familial gastrointestinal stromal tumors (GIST) which is associated with GISTs, a type of sarcoma that develops in the connective tissue of the digestive tract. GISTs can form anywhere along the gastrointestinal tract, including the stomach, small intestine, colon/rectum, and esophagus, and can range from slow-growing to more aggressive. However, most individuals with GISTs are not born with a pathogenic variant in the KIT gene. Management of KIT–related GISTs includes regular surveillance tailored to guidelines to detect tumors early. KIT variants are not known to be more common in the Ashkenazi Jewish population.
Pathogenic variants in KIT exhibit autosomal dominant inheritance. This means there is a 50% chance the condition can be passed from generation-to-generation. First degree relatives (parents, siblings, children) have a 50% chance to have the same pathogenic variant whereas second degree relatives (grandparents, aunts/uncles, nieces/nephews, half-siblings) have a 25% chance. More distant relatives have lower chances of having the same pathogenic variant when one is identified in the family.
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Written December 2025
