Francisco Quiles and colleagues assess the RNA effect of 28 BRCA1 and BRCA2 variants of uncertain significance (VUS) identified in their set of hereditary breast and ovarian cancer syndrome (HBOCS) families with the aim of gaining insight into their clinical relevance. They performed transcriptional analysis for the study of splicing aberrations and used In silico prediction tools to reclassified six variants as probably pathogenic mutations. This study highlights the importance of RNA studies in routine diagnostic laboratories.
Quiles, Francisco et al. Breast Cancer Research and Treatment.
"In developing new genetic assays and evaluating the implications of newly identified sequence variations, Alamut helps me work faster and safer to ensure and document quality in assay design and interpretations."
HELGE ROOTWELT M.D. Ph.D.
Oslo University Hospital, Norway