We conducted integrative somatic–germline analyses by deeply sequencing 864 cancer-
associated genes, complete genomes and transcriptomes for 300 mostly previously treated …

The frequency of pathogenic/likely pathogenic (P/LP) germ line variants in patients with
myelodysplastic syndrome (MDS) diagnosed at age 40 years or less is 15% to 20 …

Germline pathogenic variants in TP53 are associated with Li‐Fraumeni syndrome, a cancer
predisposition disorder inherited in an autosomal dominant pattern associated with a high …

The spectrum of germline predisposition in pediatric cancer continues to be realized. Here
we report 751 patients with solid tumors who underwent prospective matched tumor–normal …

Molecular tests assist at various stages of cancer patient management, including providing
diagnosis, predicting prognosis, identifying therapeutic targets, and determining hereditary …

The utility of cancer whole genome and transcriptome sequencing (cWGTS) in oncology is
increasingly recognized. However, implementation of cWGTS is challenged by the need to …

Purpose Germline pathogenic variants in the exonuclease domain (ED) of polymerases
POLE and POLD1 predispose to adenomatous polyps, colorectal cancer (CRC) …

The molecular characterization of tumors now informs clinical cancer care for many patients.
This advent of molecular oncology has been driven by the expanding number of therapeutic …

Background Germline variant evaluation in precision oncology opens new paths toward the
identification of patients with genetic tumor risk syndromes and the exploration of therapeutic …

Abstract The Clinical Genome Resource (ClinGen) is a National Institutes of Health-funded
program founded 10 years ago that defines the clinical relevance of genes and variants for …