People who have a change, or mutation, in their STK11 gene, develop Peutz-Jeghers syndrome (PJS) — a condition that causes noncancerous and sometimes cancerous growths to form in the gastrointestinal tract. (1)
Breast cancerColon cancerPancreatic cancerStomach cancerSmall bowel cancerCervical cancerEndometrial cancerMelanomaOvarian cancerLung cancer (2,3)
Additionally, PJS can cause cancerous or noncancerous tumors to form on the ovaries or testicles. You can inherit an STK11 abnormality from your parents. (4)
It acts as a tumor suppressor, which means it stops cells from growing uncontrollably or dividing too quickly. It helps certain cells correctly position themselves within tissues.It assists in determining how much energy a cell uses. It promotes a type of apoptosis — a process in which damaged cells die rather than replicate themselves and their genetic errors.
Genetic testing involves providing a sample of blood for doctors to analyze in a lab. Not all people with PJS have mutations in the STK11 gene, so it’s important to remember that you can still have the condition without a positive result. Testing during pregnancy can be done to see if your baby could be affected by an STK11 gene mutation. You may want to see a genetic counselor if you’re thinking about testing. These experts can help you understand the pros and cons of having the test. (5) If you have an STK11 mutation, you have a 50 percent chance of passing it on to each of your children. (4) PJS was originally described in a pair of twin sisters back in 1895. But it didn’t become a named syndrome until 1954. (4) If you test positive for an STK11 mutation, your doctor will suggest you have earlier and more frequent cancer screening procedures. These may include any of the following:
Yearly physicalsCT scans, MRIs, upper endoscopies, and colonoscopiesBreast exams, mammograms, and breast MRIsImaging of the pancreas and bile ductsPap smears, vaginal exams, and transvaginal ultrasoundsTesticle exams and ultrasounds
Talk to your doctor about when you should start and how often you should continue having these tests. Because your cancer risk is higher if you have an STK11 mutation, it’s a good idea to adopt healthy lifestyle habits. Eating lots of fruits and vegetables, getting plenty of exercise, and avoiding smoking are some simple ways to stay healthy. (5)
