Somatic and germline mutation testing
cancer, somatic tumour
CANCER
For the detection of somatic tumour mutations in key cancer genes, we used MSK-IMPACT, a previously published targeted tumour-sequencing test that covers 468 cancer genesFor the detection of germline mutations, we utilized the MSK-IMPACT panel to detect pathogenic germline variants. In brief, gDNA was enriched for targeted regions using a hybridization-based protocol and sequenced on an Illumina HiSeq instrument. Sequence reads were aligned to the GRCh37/hg19 reference human genome and variants (SNVs, small indels, and copy number variants encompassing one or more exons) were called using publicly available and in-house developed bioinformatics tools. Variants were classified according to the American College of Medical Genetics and Genomics guidelines