Copy number variation heterogeneity reveals biological inconsistency in hierarchical cancer classifications.

ABSTRACT: Cancers are heterogeneous diseases with unifying features of abnormal and consuming cell growth, where the deregulation of normal cellular functions is initiated by the accumulation of genomic mutations in cells of - potentially - any organ. At diagnosis malignancies typically present with patterns of somatic genome variants on diverse levels of heterogeneity. Among the different types of genomic alterations, copy number variants (CNV) represent a distinct, near-ubiquitous class of structural variants. Cancer classifications are foundational for patient care and oncology research. Terminologies such as the National Cancer Institute Thesaurus provide large sets of hierarchical cancer classification vocabularies and promote data interoperability and ontology-driven computational analysis. To

SUBMITTER: Yang Z 

PROVIDER: S-EPMC11542350 | biostudies-literature | 2024 Nov

REPOSITORIES: biostudies-literature