Article

Hereditary colon cancer: lynch syndrome.

Gastrointestinal Unit, Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, USA.
Gut and liver (impact factor: 0.83). 06/2010; 4(2):151-60. DOI:10.5009/gnl.2010.4.2.151 pp.151-60
Source: PubMed

ABSTRACT Lynch syndrome is the most common familial colorectal cancer syndrome. It is linked to germline mutations in one of four DNA mismatch repair (MMR) genes. A comprehensive family history is one important way to identify at-risk individuals. The elucidation of the molecular genetics of this syndrome has made it possible to screen for the disorder with molecular tests. Microsatellite instability and/or immunohistochemistry followed by germline testing for mutations in MMR genes is now a standard approach for clinically suspected cases. Correctly recognizing Lynch syndrome is essential for the application of appropriate screening and surveillance measures. Close surveillance and risk-reducing operations can decrease cancer-related mortality. In addition, counseling is an important component of the management of any family with Lynch syndrome.

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Keywords

appropriate screening
 
at-risk individuals
 
common familial colorectal cancer syndrome
 
comprehensive family history
 
germline mutations
 
germline testing
 
Lynch syndrome
 
Microsatellite instability
 
MMR
 
MMR genes
 
molecular genetics
 
molecular tests
 
risk-reducing operations
 
standard approach
 
surveillance
 
surveillance measures
 

Eunjeong Jang