Mutation Prevalence Table for Lynch Syndrome Genes
The following table is based on regularly updated data representing the observations of deleterious mutations in the MLH1 and MSH2 genes by Myriad Genetic Laboratories through our clinical testing service. Prevalence data for MSH6 mutations, which account for 10% to 15% of detectable mutations in HNPCC, are not yet available. These data were obtained from a routine laboratory requisition form and have not been independently verified. Data obtained through testing performed under specific research protocols and data for whom relevant information was not provided are excluded from this tabulation. Personal History categories will be added as data becomes available. Please contact clinresearch@myriad.com or call 1-800-469-7423 with any questions/comments.
Download the Lynch Syndrome Mutation Prevalence Table 
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The Prevalence of Deleterious Mutations in MLH1 or MSH2 (N=3410) |
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Family History (Includes at least one first or second degree relative) |
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| Personal History | No Affected Relatives | > 1 Relative Affected | |||
| Colorectal Cancer <50 | 7.2% | 27.5% | |||
| Colorectal Cancer >50 | 4.4% | 14.1% | |||
| Endometrial Cancer <50 | 7.0%* | 29.9% | |||
| Other Lynch Syndrome Cancer | 3.6%** | 14.3% | |||
| >1 Lynch Syndrome Cancer | 8.8% | 45.8% | |||
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* Estimate calculated according to PREMM12 model; Myriad's N<25. Table Last Updated: November 2007 |
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The PREMM1,2 model can be found here.
You can download a PowerPoint slide with the most updated Lynch syndrome prevalence data. This slide can be inserted into Myriad’s professional slide set titled “Identifying and Managing Hereditary Colorectal Cancer.” To obtain this slide set, please use our online request form or contact Myriad directly.
View Mutation Prevalence Tables for BRCA1 and BRCA2 genes.
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