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Genes Associated with Hereditary Cancers

Learn about genes and cancer, signs of hereditary cancer, genetic counseling, types of genetic tests and what results mean for you and your family.

STK11 (Peutz-Jeghers syndrome)

Inherited mutations in the SKT11 gene are associated with Peutz-Jeghers syndrome, a rare disorder that leads to increased risk of noncancerous growths and increased risk of certain cancers. 

People with STK11 mutations are at a greatly increased risk of:

  • breast cancer in women (up to 50% lifetime risk)
  • colon cancer (up to 39% lifetime risk)
  • pancreatic cancer (up to 36% lifetime risk)
  • stomach cancer (up to 29% lifetime risk)
  • ovarian cancer (up to 21% lifetime risk)
  • lung cancer (up to 17% lifetime risk)
  • small intestine cancer (up to 13% lifetime risk)
  • cervical cancer (up to 10% lifetime risk)
  • uterine cancer (up to 9% lifetime risk)

People with Peutz-Jeghers syndrome also tend to develop noncancerous polyps in the stomach and intestine. Children with this syndrome often have dark spots in or near the mouth, eyes, nostrils and/or fingers.

National guidelines for managing cancer risk in people with inherited STK11 mutations recommend:

  • heightened screening for breast cancer in women
  • colonoscopy every 2-3 years
  • screening for stomach, intestinal, and pancreatic cancers

A genetics expert can look at your personal and family medical history and see if it is consistent with Peutz-Jeghers syndrome and order testing if appropriate. 

Updated 04/09/2015

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