Lynch syndrome

Treatment

What can be done to reduce the risk of colorectal cancer for people with Lynch syndrome?

Increased colon cancer screening may prevent colorectal cancer. Both men and women with Lynch syndrome should have their first colonoscopy at 20-25 years of age, and possibly earlier, if someone in the family was diagnosed with colon cancer before the age of 25. A colonoscopy should be repeated every 1-2 years.

References
  • National Comprehensive Cancer Network. NCCN clinical practice guidelines in oncology. Genetic/familial high-risk assessment: colorectal. V2.2015. http://www.nccn.org/professionals/physician_gls/pdf/genetics_colon.pdf
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What can be done to reduce the risk for endometrial and ovarian cancer for people with Lynch syndrome?

What can be done to reduce the risk of other cancers associated with Lynch syndrome in carriers of an MLH1, MSH2, or EPCAM mutation?

What can be done to reduce the risk of other cancers associated with Lynch syndrome in carriers of an MSH6 or PMS2 gene mutation?

Is there a treatment for Lynch syndrome?

What can be done to reduce the risk for endometrial and ovarian cancer for people with 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.

References
  • National Comprehensive Cancer Network. NCCN clinical practice guidelines in oncology. Genetic/familial high-risk assessment: colorectal. V2.2015. http://www.nccn.org/professionals/physician_gls/pdf/genetics_colon.pdf
What can be done to reduce the risk of other cancers associated with Lynch syndrome in carriers of an MLH1, MSH2, or EPCAM mutation?

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.
References
  • National Comprehensive Cancer Network. NCCN clinical practice guidelines in oncology. Genetic/familial high-risk assessment: colorectal. V2.2015. http://www.nccn.org/professionals/physician_gls/pdf/genetics_colon.pdf
What can be done to reduce the risk of other cancers associated with Lynch syndrome in carriers of an MSH6 or PMS2 gene mutation?

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.

References
  • National Comprehensive Cancer Network. NCCN clinical practice guidelines in oncology. Genetic/familial high-risk assessment: colorectal. V2.2015. http://www.nccn.org/professionals/physician_gls/pdf/genetics_colon.pdf
Is there a treatment for Lynch syndrome?

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.

References
  • Kohlmann W, Gruber SB. Lynch Syndrome. 2004 Feb 5 [Updated 2018 Apr 12]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2020. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1211/
  • National Comprehensive Cancer Network. NCCN clinical practice guidelines in oncology. Genetic/familial high-risk assessment: colorectal. V2.2015. http://www.nccn.org/professionals/physician_gls/pdf/genetics_colon.pdf

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