Lynch syndrome

Unfortunately, there are not good screening methods for ovarian or uterine cancer. One option to lower ovarian and uterine cancer risks is preventive surgery, but surgery is not for everyone. A prophylactic hysterectomy (removal of the uterus) and bilateral salpingo-oophorectomy (removal of the ovaries and fallopian tubes) can be considered by women who are done having children. Surgery decreases the risks of ovarian and uterine cancers significantly. For women who have not had surgery, screening may be considered. Screening may include a transvaginal ultrasound and CA-125 blood test for ovarian cancer risk and endometrial biopsy for uterine cancer risk. Healthcare providers may also recommend using medication, like birth control pills, to reduce ovarian cancer risk. Women with Lynch syndrome should talk with a gynecologic oncologist who has expertise in Lynch syndrome about surgical and screening options.

Additional screening recommendations vary depending on which gene has a mutation.

For MLH1, MSH2, and EPCAM mutation carriers, the National Comprehensive Cancer Network offers additional screening guidelines. These guidelines are updated annually. Individuals with gene mutations should be followed by doctors with expertise in Lynch syndrome who can help interpret screening guidelines based on an individual's gene mutation and their personal and family medical histories.

Additional recommendations include:

• To screen for gastric and small bowel cancer, an upper endoscopy should be considered depending on a person's family history and/or ethnic background; screening should begin at age 30-35 years.
• To screen for urothelial cancer an annual urinalysis should be considered beginning at age 25-30 years.
• To screen for central nervous system cancer, an annual physical/neurological exam is recommended beginning at age 25-30 years.
• At this time, there are not any pancreatic cancer screening recommendations.

Additional screening recommendations vary depending on which gene has a mutation.

For MSH6 and PMS2 mutation carriers the risk of other cancers is low. Individuals with gene mutations should be followed by doctors with expertise in Lynch syndrome who can help interpret screening guidelines based on an individual's gene mutation and their personal and family medical histories. It is possible that no additional screening may be recommended.

There is no treatment that can cure Lynch syndrome. However, there are options available to reduce the risk of developing cancer. These options include:

• Increased cancer screening
• Risk-reducing surgery
• Medications
• Life-style changes

The National Comprehensive Cancer Network has management guidelines for people with Lynch syndrome. These guidelines are updated frequently, so please review the current recommendations by visiting the National Comprehensive Cancer Network website. Management recommendations vary by age. Talking with a healthcare provider with expertise in Lynch syndrome can help someone determine the best medical management and risk-reduction options for their situation.