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STK11 (Peutz-Jeghers Syndrome): Options for Managing Risk

Learn about the screening and prevention guidelines for people with a mutation in their STK11 gene. Stay up to date by signing up for our community newsletter.
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Risk Management for People with Inherited Mutations

Experts at the National Comprehensive Cancer Network (NCCN) created guidelines for people with an inherited mutation to manage their cancer risk.

We recommend that you speak with a genetics expert who can look at your personal and family history of cancer and can help you decide on a plan for managing your risk.

NCCN recommends that all people with an mutation receive education on the signs and symptoms of related cancers. NCCN guidelines for specific cancers are listed below. 


People with an  mutation may also qualify for clinical trials looking for more effective screening or prevention for cancer.

Note that when we use the term "boys" and "men" we are referring to people assigned male at birth. When we use the terms  "girls" and "women" we are referring to people assigned female at birth. 

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Risk management for children

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

Beginning Age

Recommendation

8 years

Girls should have an annual exam by a doctor to look for evidence of early-onset puberty.

10 years continuing into adulthood

Boys should have an annual exam by a doctor to look for cancer of the testicles or evidence of feminizing changes.

8-10 years continuing into adulthood

Boys and girls should have a colonoscopy, upper endoscopy and small bowel exam using CT, MRI or video capsule endoscopy with followup every 2-3 years depending on if abnormalities are found.

Source: NCCN Guidelines: Genetic/Familial High-Risk Assessment: Colorectal, Endometrial, Gastric vs. 1 2024


Breast cancer risk management for women and people assigned female at birth

Beginning Age

Recommendation

Additional Information

25

Learn to be aware of changes in your breasts.

Based on NCCN guidelines for women of average risk.

25

Breast exam by doctor every 1-3 years.

Based on NCCN guidelines for women of average risk.

30

Breast exam by doctor every 6-12 months.

30

Yearly breast MRI with and without contrast.

30

Yearly mammogram.

No set age

Discuss the benefits, risks and costs of double mastectomy with your doctor.

Risk-reducing mastectomy lowers breast cancer risk by 90%, but has not been shown to improve survival. Even after double mastectomy, some breast tissue, and therefore cancer risk remains.

No set age

Discuss the benefits, risks and costs of medication to lower the risk for breast cancer with your doctor.

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.

Source: NCCN Guidelines: Genetic/Familial High-Risk Assessment: Breast, Ovarian, Pancreatic, vs. 1 2025.


Risk management for gynecologic cancer 

Beginning Age

Recommendation

Additional Information

18-20

  • annual pelvic exam
  • annual pelvic ultrasound
  • annual Pap smear.

Endometrial biopsy is recommended if there is any abnormal bleeding.

After childbearing

Have a discussion with your doctor about the risks, benefits and costs of removing your uterus (hysterectomy).

Source: NCCN Guidelines: Genetic/Familial High-Risk Assessment: Breast, Ovarian, Pancreatic, vs. 1 2025; NCCN Guidelines: Genetic/Familial High-Risk Assessment: Colorectal, Endometrial, Gastric vs. 1, 2024.


Risk management for gastrointestinal tract cancer

Beginning Age

Recommendation

18

Colonoscopy every 2–3 years or more frequently depending on number, size and type of polyps found.

18

Upper endoscopy every 2–3 years or more frequently depending on number, size and type of polyps found.

18

Small bowel exam using CT, MRI or video capsule endoscopy with followup every 2-3 years or more frequently depending on if abnormalities are found.

Source: NCCN Guidelines: Genetic/Familial High-Risk Assessment: Colorectal, Endometrial, Gastric vs. 1 2024.


Risk management for pancreatic cancer

There are two tests that are used to look for pancreatic cancer in high-risk people. 

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

Beginning Age

Recommendation

30-35 years (or 10 years younger than the earliest case of pancreatic cancer in the family)

  • Discuss the benefits, risks, costs and limitations of screening with your doctor.
  • Screening should include annual MRCP or EUS or both.
  • Screening should be performed in a facility with experience in screening high-risk patients for pancreatic cancer.

Source: NCCN Guidelines: Genetic/Familial High-Risk Assessment: Breast, Ovarian, Pancreatic, vs. 1 2025


Risk management for testicular cancer

Beginning Age

18

Yearly testicular exam and observation for feminizing changes (e.g., breast enlargement).


Risk management for lung cancer

Beginning Age

No set age

Learn about the risks and signs of lung cancer and the benefits of quitting smoking.


Other cancers

There has not been enough research to show a benefit from screening and prevention for other cancers in people who have a  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  mutations. 

Last updated September 03, 2024