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.
- Breast cancer
- Ovarian, cervical and endometrial cancer
- Testicular cancer
- Gastrointestinal cancers
- Pancreatic cancer
- Other cancer risks
- Learning to be aware of changes in breasts beginning at age 18.
- Clinical breast exam every 6 months starting at age 25.
- Annual breast MRI with contrast (or mammogram if MRI is unavailable) beginning at age 25.
- Annual mammogram beginning at age 30 (consider 3D mammography, if available).
- Yearly pelvic exam and Pap smear beginning at age 18-20.
- Yearly testicular exam and observation for feminizing changes (e.g., breast enlargement) beginning at age 10.
- 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.
- 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, ideally under research conditions.
- 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.
If you are a person with an STK11 mutation, you can find peer support through the following resources:
- Register for the FORCE Message Boards to connect with others who share your situation. Once you register, you can post on the Share Your Mutation board to connect with other people who carry an STK11 mutation.
- FORCE's Peer Navigation Program will match you with a volunteer who shares your mutation and situation and provide you with a free resource guide.
- Contact the FORCE impact leaders in your area to link to local support groups and other resources.
- Attend a virtual support meeting in your area.
- Read the stories from members of our community.
- Smart Patients has an active Peutz-Jeghers syndrome support community.
The following screening and prevention studies are open to people with an STK11 mutation.
- NCT02000089: The Cancer of the Pancreas Screening-5 CAPS5)Study (CAPS5). The goal of this study is to evaluate pancreatic juice for early cancer markers.
- NCT02206360: Pancreatic Cancer Early Detection Program. This pancreatic cancer screening study uses esopheal ultrasound to screen for pancreatic cancer in high risk people. The study is open to people with an STK11 mutation or other mutation linked to increased cancer risk.
- NCT03568630: Blood Markers of Early Pancreas Cancer. This pancreatic cancer study involves blood samples over time to look for biomarkers of pancreatic cancer in high risk people. The study is open to people with an STK11 mutation or other mutation linked to increased cancer risk.
- NCT03693378: A Study of IMMray™ PanCan-d Test for Early Detection of Pancreatic Cancer in High-risk Groups. This pancreatic cancer screening study uses an experimental blood test to screen for pancreatic cancer in high risk people. The study is open to people with an STK11 mutation or other mutation linked to increased cancer risk.