Recommendations from the EGAPP Working Group: genetic testing strategies in newly diagnosed individuals with colorectal cancer aimed at reducing morbidity and mortality from Lynch syndrome in relatives
Genetics in MedicinePublished 1 January 2009Open access
Alfred O. Berg
Citations684
SJR quartileQ1
SJR score2.68
SNIP2.38
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TL;DR
The EGAPP Working Group constructed a chain of evidence that linked genetic testing for Lynch syndrome in patients with newly diagnosed CRC with improved health outcomes in their relatives, and concluded that there is moderate certainty that such a testing strategy would provide moderate population benefit.
Abstract
CRC is a common disease responsible for an estimated 52,000 deaths in the United States in 2007. In about 3% of newly diagnosed CRC, the underlying cause is a mutation in a MMR gene (Lynch syndrome) that can be reliably identified with existing laboratory tests. Relatives inheriting the mutation have a high (about 45% by age 70) risk of developing CRC. Evidence suggests these relatives will often accept testing and increased surveillance.
Keywords
MedicineBiochemistry, Genetics and Molecular Biology
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