How-To Define Ashkenazi Jewish Ancestry

The program can be used to calculate risks for individuals with Ashkenazi Jewish ancestry. Below this is a description of how to do that in the CanRisk tool and for the web-services.


In the CanRisk Tool:

  1. Enter the “Family History” section in the tool.

  2. In the prompt: Have you any Ashkenazi Jewish ancestors? Select the Ashkenazi Jewish.

The Ashkenazi Jewish status is then set (for the proband) and the Ashkenazi Jewish mutation frequencies are used in the calculation. The mutation frequencies used are reported in the results page. The Ashkenazi Jewish status in the CanRisk file format is used to record Ashkenazi ancestry and can be saved and loaded back into the CanRisk tool.

Submitting pedigrees to the web-services:

The web-services allow for populations to be set ('UK' 'ICELAND', 'ASHKENAZI' or 'CUSTOM') using the 'mut_freq' parameter. The cancer risk web-services will automatically set the Ashkenazi Jewish mutation frequencies for families with the Ashkenazi Jewish status set in the CanRisk file. The mutation frequencies used are reported for each family in the results.

If 'CUSTOM' is used then the custom mutation frequencies can be defined for each gene (using the gene parameters 'brca1_mut_frequency', 'brca2_mut_frequency' etc).