Cancer risk in Peutz-Jeghers syndrome

Peutz-Jeghers syndrome (PJS) is an autosomally dominant disorder associated with mutations in tumor suppressor gene STK11, and characterized by gastrointestinal polyposis, mucocutaneous pigmentation, and cancer predisposition:

  • up to 93% lifetime risk of any cancer in affected individuals, and cancer often develops around age 40-49 years; associated cancers include cancers of the small bowel, stomach, pancreas, breast, ovary, cervix, lung, and testes
  • colon cancer risk is reported at 39%, and typical age of colorectal cancer diagnosis is 42-46 years in affected patients
  • rarely, PJS may be idiopathic and not associated with STK11 mutations

Continue reading