From a variant of unknown significance to pathogenic: Reclassification of a large novel duplication in BRCA2 by high ‐throughput sequencing

ConclusionThis case study demonstrates that a comprehensive characterization of a structural variant by breakpoint assessment is crucial for its correct classification. Therefore, sequencing strategies including non ‐coding regions might be necessary to identify cancer predispositions in affected families.

https://onlinelibrary.wiley.com/doi/abs/10.1002/mgg3.1045?af=R

Source: Molecular Genetics & Genomic Medicine - November 12, 2019 Category: Genetics & Stem Cells Authors: Jana Lisa Luttikhuizen, Janin Bublitz, Stephanie Schubert, Gunnar Schmidt, Winfried Hofmann, Susanne Morlot, Reena Buurman, Bernd Auber, Brigitte Schlegelberger, Doris Steinemann Tags: CLINICAL REPORT Source Type: research