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Mutation Prevalence Tables for BRCA1/2 Genes

Download the HNPCC Mutation Prevalence Table

Mutation Prevalence Table *
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The following table, which will be updated periodically, represents observations of deleterious mutations in the MLH1 and MSH2 genes by Myriad Genetic Laboratories through its clinical testing service. Prevalence data for MSH6 mutations are not yet available. MSH6 mutations account for 10-15% of detectable mutations in HNPCC. Data obtained through testing performed under specific research protocols is not included here. The information included in these tables was obtained from a routine laboratory requisition form and has not been independently verified by Myriad Genetic Laboratories. Patients for whom relevant information was not provided were not included in this tabulation. Additional categories will be added for personal history as more data is available. Please contact clinresearch@myriad.com or call 1-800-469-7423 with any questions or comments.

Table Last Updated: November 2007

The Prevalence of Deleterious Mutations in MLH1 or MSH2 (N=3410)
 

Family History (Includes at least one first or second degree relative)
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%

* Estimate calculated according to PREMM12 model; Myriad's N<25.
** Myriad's N<50

PREMM12 model can be found at http://www.dana-farber.org/pat/cancer/gastrointestinal/crc-calculator/default.asp.

You can download a PowerPoint slide with the most updated HNPCC prevalence data.  This slide can be copied into Myriad's professional slide set entitled “Identifying and Managing Hereditary Colorectal Cancer.”  If you'd like to obtain this slide set, please use our online request form or contact Myriad directly.


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