| Article ID | Journal | Published Year | Pages | File Type |
|---|---|---|---|---|
| 5588968 | European Journal of Medical Genetics | 2017 | 18 Pages |
Abstract
We found a relevant discrepancy in variant classification by using in-silico prediction tools, resulting in potential overestimation and/or underestimation of cancer risk. More reliable, notably gene-specific, prediction tools and functional tests are needed to improve clinical counseling.
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Authors
Carolin E. Sadowski, Daniela Kohlstedt, Cornelia Meisel, Katja Keller, Kerstin Becker, Luisa Mackenroth, Andreas Rump, Evelin Schröck, Pauline Wimberger, Karin Kast,