How do the models handle de novo mutations?
The breast/ovarian/prostate cancer risk prediction models do not explicitly consider de novo mutations; however, the algorithm would still produce correct results in most situations.
Caution should be taken in the case of an individual testing positive for a pathogenic variant and both parents being negative for that mutation. In these cases, it is recommended to set the father's test type to "mutation search" and the mother's test type to "direct test" regardless of the actual kind of test performed. Any results obtained under this scenario should be interpreted with some caution.