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. Note that when we use the terms "boys" and "girls" and "men" and "women" we are referring to the sex assigned at birth.

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

Screening

• Learn to be aware of changes in your breasts beginning at age 18.
• Breast exam by doctor every 6-12 months beginning at age 30.
• Yearly breast MRI with contrast and yearly mammogram beginning at age 30.

Risk reduction

• Have a discussion with your doctor about of the benefits and risks of double mastectomy.
  • Risk-reducing mastectomy can lower the risk for breast cancer by about 90%. Despite this, mastectomy may not increase your overall survival.
  • Even after double mastectomy, some breast tissue is left over, and therefore some breast cancer risk remains after surgery. 
• Tamoxifen and other estrogen-blocking drugs may reduce breast cancer risk for high-risk women, but more research is needed to prove this in people with an STK11 mutation.

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

There are two tests that are used to look for pancreatic cancer. 

• Contrast-enhanced magnetic resonance cholangiopancreatography (MRCP) is a special type of MRI imaging that looks closely at the pancreas, liver, gallbladder, bile duct and pancreatic duct to find abnormalities such as cancer.
• Endoscopic ultrasound (EUS) involves passing a tiny scope with an attached ultrasound probe down the esophagus to the stomach. This allows doctors to look closely at the pancreas.  

NCCN guidelines recommend that people with an STK11 mutation have a conversation with their doctor about the benefits, risks and costs of pancreatic cancer screening. NCCN guidelines include the following recommendations:

• 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 MRI/MRCP and/or EUS. 
• Screening should be performed in a facility with experience in screening high-risk patients for pancreatic cancer. 

Other cancer 

• Learn about the risks and signs of lung cancer and the benefits of 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.