Quantitative models for predicting mutations in Lynch syndrome genes
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As genotyping for Lynch syndrome has become widespread, more and more people are being counseled about whether to be genotyped for mutations in mismatch repair genes. Recently a number of quantitative models have been developed to identify potential Lynch syndrome patients and serve as decision aids for patients at genetic counseling clinics. In contrast to existing clinical guidelines that give dichotomous classifications, these models provide a probability that a family or individual has Lynch syndrome. These models have been shown to be useful tools in identifying likely carriers of Lynch syndrome mutations. Correctly used, they have the potential to greatly improve the current diagnosis and management of Lynch syndrome families. To help clinicians and genetic counseling professionals understand the differences among these models and use the models wisely, we review the key features of each model and offer some guidelines on their use.
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References and Recommended Reading
- 10.Boland CR, Thibodeau SN, Hamilton SR, et al.: A National Cancer Institute Workshop on Microsatellite Instability for Cancer Detection and Familial Predisposition: development of international criteria for the determination of microsatellite instability in colorectal cancer. Cancer Research 1998, 58:5248–5257.PubMedGoogle Scholar
- 17.Myriad Genetic Laboratories: Mutation prevalence tables. http://www.myriadtests.com/provider/mutprevhnpcc.htm. Accessed June 15, 2007.