Germline Variants of Clinical Cancer Specimens

These clinical specimens represent solid tumors and matched blood controls that were collected as part of patients' routine care at Memorial Sloan Kettering Cancer Center. They were sequenced on the targeted platform MSK-IMPACT. Here, we performed germline variant calling on the normal blood specimens and assessed their zygosity in the concomitant tumor specimens for comprehensive exploration of the landscape of pathogenic germline variants in patients with advanced cancer.]]>
DNA from blood and tumor tissue from patients at Memorial Sloan Kettering Cancer Center were required. Tumor and normal sample libraries were sequenced in a CLIA-compliant laboratory using the FDA-authorized targeted MSK-IMPACT assay comprised of 341, 410, or 468 genes throughout the study. Study participants were not selected on the basis of tumor type, molecular features of their tumor, or treatments.]]>