A mutation search involves reading large parts of the gene, whereas a predictive or direct gene test is an analysis for a known mutation in a family.
BOADICEAThe CanRisk Tool distinguishes between these two types of genetic test on the basis of their sensitivity.
In particular, CanRisk assumes by default thatFor example, the risk models used by the CanRisk Tool assume that, by default, mutation searches only detect
90%89% of BRCA1 mutations
and 90% of BRCA2 mutations†, whereas direct gene tests are assumed to be 100% sensitive. As a result, the
modeltool allows for the possibility that a mutation has been missed by a mutation search.
The CanRisk tool includes model parameters inYou can specify different mutation search sensitivities prior to running a risk calculation in the 'Advanced Options' menu in the 'Family History' section
that enables you to specify different BRCA mutation search sensitivities prior to running a risk calculation..
† Lee, A. J. et al. Enhancing the BOADICEA cancer risk prediction model to incorporate new data on RAD51C, RAD51D, BARD1, updates to tumour pathology and cancer incidences. J Med Genetics (2022)
