Technological innovation and rapid reduction in sequencing costs have enabled the
genomic profiling of hundreds of cancer-associated genes as a component of routine cancer …

Non-small cell lung cancer is a heterogeneous disease and molecular characterisation
plays an important role in its clinical management. Next-generation sequencing-based …

Purpose Several professional societies have published guidelines for the clinical
interpretation of somatic variants, which specifically address diagnostic, prognostic, and …

Importance Both germline genetic testing and tumor DNA sequencing are increasingly used
in cancer care. The indications for testing and utility of these 2 tests differ, and guidelines …

Background Several cancer-susceptibility syndromes are reported to underlie pediatric
rhabdomyosarcoma (RMS); however, to our knowledge there have been no systematic …

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 …

Hereditary platelet disorders (HPDs) are a group of blood disorders with variable severity
and clinical impact. Although phenotypically there is much overlap, known genetic causes …

Purpose PALB2 germline pathogenic variants are associated with increased breast cancer
risk and smaller increased risk of pancreatic and likely ovarian cancer. Resources for health …

To assess the clinical implementation of the 2017 Standards and Guidelines for the
Interpretation and Reporting of Sequence Variants in Cancer: A Joint Consensus …

Abstract In July 2023, the American Association for Cancer Research held the second
Childhood Cancer Predisposition Workshop, at which international experts in pediatric …