The STK11 gene is associated with Peutz-Jeghers syndrome (PJS), an autosomal dominant condition that causes distinctive dark freckling around the mouth, gastrointestinal polyps, and significantly increased lifetime risks for several cancers, including those of the pancreas, breast, colon, stomach, small bowel, cervix, and ovaries. Management focuses on regular, guideline-based surveillance—such as endoscopy, colonoscopy, pancreatic screening, and breast imaging—to detect polyps and cancers early, along with coordinated care through gastroenterology, oncology, and genetics specialists. STK11-related PJS is not known to be more common in the Ashkenazi Jewish population
Pathogenic variants in STK11 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
