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-  2017 

Is there evidence that we should screen the general population for Lynch syndrome with genetic testing? A systematic review

DOI: 10.2147/PGPM.S123808

Keywords: Lynch syndrome, systematic review, targeted next-generation sequencing, genetic screening, general population

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Abstract:

The emerging dual imperatives of personalized medicine and technologic advances make population screening for preventable conditions resulting from genetic alterations a realistic possibility. Lynch syndrome is a potential screening target due to its prevalence, penetrance, and the availability of well-established, preventive interventions. However, while population screening may lower incidence of preventable conditions, implementation without evidence may lead to unintentional harms. We examined the literature to determine whether evidence exists that screening for Lynch-associated mismatch repair (MMR) gene mutations leads to improved overall survival, cancer-specific survival, or quality of life. Documenting evidence and gaps is critical to implementing genomic approaches in public health and guiding future research

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