BRCA mutation frequencies Sample Clauses

BRCA mutation frequencies. The MODEL PARAMETERS Web page (Figure 12) shows the current BRCA1 and BRCA2 mutation frequencies in the upper two text boxes. To reset these parameters, select one of the three options on the ‘Set mutation frequencies’ selection list: ‘UK’, ‘Ashkenazi’, ‘Iceland’ or ‘Custom’. If you select either the ‘UK’, ‘Ashkenazi’ or ‘Iceland’ option, appropriate preset mutation frequencies will appear in the adjacent text boxes. If you select the ‘Custom’ option, the program will clear and sensitise the adjacent text boxes, to enable you to input your own settings. ► BRCA1 or BRCA2 mutation frequency is defined as the proportion of all BRCA1 or BRCA2 alleles in the population that is made of pathogenic mutations. It should not be confused with mutation carrier frequency which is a different quantity. For example, if p represents the mutation frequency in the population, the mutation carrier frequency is p2+2p(1-p). In this example, the BOADICA input should be “p”. ► If you are uncertain how to specify BRCA1 and BRCA2 mutation frequencies, please contact us for further clarification.
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