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The Value of Genetic and Genomic Technologies Workshop Summary (2010) / Chapter Skim
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Appendix C: Lynch Syndrome Topic Brief
Pages 71-76

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From page 71...
... , have a high risk of developing colorectal cancer as well as other cancers, particularly endometrial. The increased risk is due to mutations in mismatch repair genes which reduce the ability of cells to repair DNA damage.
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From page 72...
... staining tests of tumors identify proteins produced by MMR genes. Patients with no staining of a specific protein can be offered DNA analysis of the MMR gene identified by IHC.
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From page 73...
... is the practice standard, but actual performance is difficult to estimate and it is not known if laboratory proficiency testing will be an adequate validity measure. In addition, research may identify additional MMR genes (Yu et al., 2010)
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From page 74...
... MSI: Studies enrolling a total of 150 patients with Lynch syndrome and using a variety of MSI methods found that high MSI score test results are adequately sensitive and specific in identifying individuals who had tested positive for some MMR genes. IHC: Studies with a total of 149 patients found that IHC testing is adequately sensitive and specific in identifying individuals who test positive for some MMR genes.
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From page 75...
... The EGAPP Working Group found that, based on the evidence reviews, methods using family history to identify patients with Lynch produce inconsistent results and identify a lower percentage of patients with Lynch than do tumor-based screening protocols. However, MMR testing of patients based on family history was not excluded.
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From page 76...
... 2009. 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.
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Key Terms

  • colorectal cancer
  • genetic testing
  • mmr genes
  • newly diagnosed
  • evidence reviews

  • mmr gene
  • dna analysis
  • individuals newly
  • preventive services
  • offered dna

  • identify patients
  • dna sequencing
  • proficiency testing
  • services task
  • identifying individuals

  • developing colorectal
  • gene mutations
  • family history
  • preliminary tests
  • health benefits

  • tumor screening
  • adequate evidence
  • lifetime risk
  • reduce morbidity
  • analytic validity

  • testing strategies
  • braf mutation
  • offering genetic
  • promoter hypermethylation
  • adequately sensitive


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