Top 10 Practice Changers in Gastroenterology: 2014

David A. Johnson, MD


December 09, 2014

In This Article

Guidelines on Genetic Evaluation and Management of Lynch Syndrome: A Consensus Statement by the US Multi-Society Task Force on Colorectal Cancer

Giardiello FM, Allen JI, Axilbund JE, et al
Dis Colon Rectum. 2014;57:1025-1048

How Should Lynch Syndrome Be Managed?

Germline mutation in the MMR genes MLH1, MSH2, MSH6, and PMS2 cause Lynch syndrome. This consensus document critically analyzed the current literature and provides best-practice, evidence-based recommendations for the diagnosis and surveillance of patients with Lynch syndrome.

Clinicians should note the discussion on differences in lifetime risks for associated cancers, depending on the germline mutation. The colon cancer risk associated with the MLH1 and MSH2 gene mutation ranges from 30% to 74%. Lower cumulative lifetime risks for CRC ranging from 10% to 22% have been found in patients with MSH6 mutations and 15%-20% in those with PMS2 mutations. The highest risk is for endometrial cancer, which occurs in up to 54% of women with MLH1 and MSH2 mutations.

A lower risk is seen in patients with PMS2 mutations (15%), and a much higher risk in persons with MSH6 mutations (71%). Lynch syndrome caused by MSH6 mutation is also characterized by later onset of colorectal and endometrial cancers than with other MMR gene alternations.

Recommendations for screening and surveillance monitoring for Lynch syndrome-associated cancers are also discussed in detail—a must-read for anyone monitoring these patients.



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