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Review
. 2014 Jul 22:7:147-58.
doi: 10.2147/TACG.S51483. eCollection 2014.

The genetic basis of Lynch syndrome and its implications for clinical practice and risk management

Stephanie A Cohen  1 , Anna Leininger  2
Affiliations
Review

The genetic basis of Lynch syndrome and its implications for clinical practice and risk management

Stephanie A Cohen et al. Appl Clin Genet. .

Abstract

Lynch syndrome is the most common cause of hereditary colon cancer, and accounts for as much as 3% of all colon and endometrial cancers. The identification and management of individuals with Lynch syndrome have evolved over the past 20 years, yet the syndrome remains vastly underdiagnosed. It is important for clinicians to recognize individuals and families who are at risk in order to be able to manage them appropriately and reduce their morbidity and mortality from this condition. This review will touch on the history of Lynch syndrome, the current knowledge of genotype-phenotype correlations, the cancers associated with Lynch syndrome, and management of individuals who are gene carriers.

Keywords: Lynch syndrome; hereditary cancer; hereditary nonpolyposis colorectal cancer; immunohistochemistry; microsatellite instability; mismatch repair; mismatch repair genes.

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Figures

Figure 1
Figure 1
Approximate time line for availability of mismatch repair gene tests. Abbreviations: del, deletion; dup, duplication.
See this image and copyright information in PMC

References

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