Risk management for people with inherited STK11 mutations

The National Comprehensive Cancer Network (NCCN) provides risk management guidelines for men and women with STK11 mutations. These are listed below. We also recommend that you speak with a genetics expert who can look at your personal and family history of cancer and can help you determine the best risk management plan. Consider enrolling in a research study looking at other ways to screen for or prevent cancer. 

Risk management for children

An inherited STK11 mutation can increase the risk for cancer beginning during childhood. Risk management for some cancers begins at a young age. 

• Girls should have an annual exam by a doctor to look for evidence of early-onset puberty beginning at age 8.
• Boys should have an annual exam by a doctor to look for cancer of the testicles or evidence of feminizing changes beginning at age10.
• Boys and girls should have a colonoscopy, upper endoscopy and small bowel exam using CT, MRI or video capsule endoscopy starting at age 8-10 with followup every 2-3 years depending on if abnormalities are found.

Risk management for adults

• Breast cancer 
• Ovarian, cervical and endometrial cancer 
• Testicular cancer 
• Gastrointestinal cancers
• Pancreatic cancer
• Other cancer risks

Breast cancer in women

• Learning to be aware of changes in breasts beginning at age 18. 
• Clinical breast exam every 6 months starting at age 30.
• Yearly breast MRI with contrast and yearly mammogram beginning at age 30 (consider 3D mammography, if available).

Ovarian, cervical and endometrial cancer

• Yearly pelvic exam and Pap smear beginning at age 18-20.

Testicular cancer 

• Yearly testicular exam and observation for feminizing changes (e.g., breast enlargement) beginning at age 10 and continuing through adulthood.

Gastrointestinal cancers

• Colonoscopy every 2-3 years beginning in late teens.
• Upper endoscopy every 2-3 years beginning in late teens.
• Small bowel screening with CT or MRI.  Baseline at age 8-10 years.After baseline exam, follow-up small bowel screening every 2-3 years, beginning at age 18.

Pancreatic cancer

• Consider pancreatic cancer screening every 1-2 years, beginning at age 30-35 (or 10 years younger than the earliest case of pancreatic cancer in the family), using one or both of the following:
  • contrast-enhanced MRI/magnetic resonance cholangiopancreatography (MRI/MRCP)
  • endoscopic ultrasound (EUS)
• Before undergoing screening, people should have a conversation with their doctor about the potential benefits, risks, costs and limitations of screening.
• NCCN recommends that the screening be performed in an experienced facility. 

Other cancer 

• Provide information about lung cancer and quitting smoking.

There has not been enough research to show a benefit from screening and prevention for other cancers in people who have a STK11 mutation. For this reason, experts recommend managing other cancer risks based on family history. Cancer screening and prevention research studies may be available for people with STK11 mutations.