What Is Lynch Syndrome?

By katherine

Article Sources

Article Sources

• 1. Bhattacharya P, McHugh TW. “Lynch Syndrome”. StatPearls. StatPearls Publishing, (2019). https://www.ncbi.nlm.nih.gov/books/NBK431096/
• 2. Munoz, Juan C. et al. “Hereditary Nonpolyposis Colorectal Cancer” Medscape: Drugs & Diseases (2017). https://emedicine.medscape.com/article/188613-overview
• 3. Strafford, J. Craig. “Genetic Testing for Lynch Syndrome, an Inherited Cancer of the Bowel, Endometrium, and Ovary” Rev Obstet Gynecol. 2012; 5: 42–49 https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3349923/

Medical Expert

More About Us

9. Diagnosis

The first step in diagnosing Lynch syndrome is to review a patient’s family history of cancer.²Munoz, Juan C. et al. “Hereditary Nonpolyposis Colorectal Cancer” Medscape: Drugs & Diseases (2017). https://emedicine.medscape.com/article/188613-overview If the family meets certain criteria, laboratory technicians examine tumors for evidence of MMR gene mutations. The tissue of Lynch syndrome tumors has a distinctive appearance that aid in diagnosis.³Strafford, J. Craig. “Genetic Testing for Lynch Syndrome, an Inherited Cancer of the Bowel, Endometrium, and Ovary” Rev Obstet Gynecol. 2012; 5: 42–49 https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3349923/

A blood test can determine whether a person carries the mutations that cause Lynch syndrome. Some doctors are reluctant to order genetic tests since they are expensive and not required to diagnose the disease.²Munoz, Juan C. et al. “Hereditary Nonpolyposis Colorectal Cancer” Medscape: Drugs & Diseases (2017). https://emedicine.medscape.com/article/188613-overview Others recommend this type of screening, however, citing improvement of outcomes.³Strafford, J. Craig. “Genetic Testing for Lynch Syndrome, an Inherited Cancer of the Bowel, Endometrium, and Ovary” Rev Obstet Gynecol. 2012; 5: 42–49 https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3349923/