Toolbox for Genetic Risk Prediction

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1. Background
Individuals with pathogenic germline mutations in DNA repair genes have a substantially increased cancer risk. Typically, their families are characterized by multiple or early onset cases of cancer. The prediction of mutation and cancer risks by genetic and clinical counselors is important for clinical decision making regarding genetic testing and cancer prevention. However, these risks are very variable and highly depend on the specific familial cancer history. Worldwide a variety of statistical risk prediction models have been developed and published for two common types of hereditary cancers: hereditary breast and ovarian cancer, and hereditary non-polyposis colorectal cancer. However, only few models have been implemented in convenient and easy-to-use applications so far.
2. Problem
Figure 1 shows a typical pedigree of a family suspected of having hereditary breast and ovarian cancer, a member of which (so called “index patient”, marked in red) is seeking advice in a familial cancer clinic.

Figure 1: Pedigree with multiple and early onset cases of breast cancer (BC) and ovarian cancer (OC)
In a first step, the genetic counselor has to decide whether genetic testing should be offered to this family or not. This decision depends on the expected probability to find a disease-causing mutation. Genetic risk models can be used to predict this risk for individual families and thus to assist the counselor in clinical decision making.
4. Results
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