What Is Lynch Syndrome?

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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/
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Lynch syndrome is an inherited form of colorectal, endometrial, and ovarian cancers.2Munoz, Juan C. et al. “Hereditary Nonpolyposis Colorectal Cancer” Medscape: Drugs & Diseases (2017). https://emedicine.medscape.com/article/188613-overview While the average person has a 2% chance of developing cancer of the colon, the mutations associated with this condition increases the chance to 70 to 80%.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/

Henry T. Lynch first described the condition in 1966 after treating a family whose various members had colorectal cancer, as well as tumors in the stomach and endometrium.2Munoz, Juan C. et al. “Hereditary Nonpolyposis Colorectal Cancer” Medscape: Drugs & Diseases (2017). https://emedicine.medscape.com/article/188613-overview

1. Types of Lynch Syndrome

Two types of Lynch syndrome exist. The same genetic mutations are responsible for both, but the difference lies in their manifestations. Lynch syndrome I refers to the condition experienced by those with inherited colon cancer.2Munoz, Juan C. et al. “Hereditary Nonpolyposis Colorectal Cancer” Medscape: Drugs & Diseases (2017). https://emedicine.medscape.com/article/188613-overview

Patients with Lynch syndrome II have primary cancers of the gastrointestinal tract or reproductive system,2Munoz, Juan C. et al. “Hereditary Nonpolyposis Colorectal Cancer” Medscape: Drugs & Diseases (2017). https://emedicine.medscape.com/article/188613-overview with approximately half of women experiencing endometrial cancer first. Their risk of ovarian cancer is increased from the normal 1% to 10 to 15%.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/

Lynch Syndrome

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