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Lynch syndrome: an updated review.
Rishabh Sehgal1, Kieran Sheahan2, Patrick R O'Connell3
1Centre for Colorectal Disease, St. Vincent's University Hospital, Elm Park, Dublin 4, Ireland. rishsehgal@gmail.com.
Genes
|July 1, 2014
Summary
Lynch syndrome, a common inherited cancer risk, is often missed by traditional screening. Universal tumor screening for DNA mismatch repair deficiencies is increasingly adopted to improve identification for genetic counseling.
Area of Science:
- Genetics
- Oncology
- Cancer Susceptibility Syndromes
Background:
- Lynch syndrome significantly increases lifetime risks for colorectal, endometrial, and other cancers.
- It stems from germline mutations in DNA mismatch repair genes (MLH1, MSH2, MSH6, PMS2) or EPCAM deletions.
- Current age/family history criteria are insufficient for accurate Lynch syndrome screening eligibility.
Purpose of the Study:
- To review traditional Lynch syndrome screening methods.
- To discuss the adoption and implications of universal tumor screening approaches.
- To highlight the need for standardized international guidelines for Lynch syndrome management.
Main Methods:
- Review of existing literature on Lynch syndrome screening criteria.
- Analysis of trends in universal tumor screening adoption.
- Discussion of diagnostic methods like microsatellite instability and immunohistochemical testing.
Main Results:
- Traditional screening methods inaccurately identify 25%-70% of eligible individuals.
- There is a growing trend towards universal Lynch syndrome tumor screening.
- Variations in screening protocols and result disclosure persist across institutions.
Conclusions:
- Universal screening aims to improve the identification of individuals benefiting from genetic counseling for Lynch syndrome.
- Standardization of Lynch syndrome high-risk clinics through international guidelines is crucial.
- Further research and consensus are needed on optimal screening and management strategies.
