{"entity":{"id":"paper-dentro-pcawg-intratumour-heterogeneity-cell-2021","kind":"paper","name":"Characterizing genetic intra-tumor heterogeneity across 2,658 human cancer genomes","aka":[],"tldr":"An international study of 2,658 whole cancer genomes found that almost every tumour contains distinct branches carrying their own mutations.","summary":"The Pan-Cancer Analysis of Whole Genomes heterogeneity group characterised intra-tumour heterogeneity across whole-genome sequences of 2,658 cancer samples spanning 38 cancer types. Nearly all informative samples (95.1 per cent) contained evidence of distinct subclonal expansions, with frequent branching relationships between subclones, and the authors observed positive selection of subclonal driver mutations across most cancer types.","asOf":"2026-11-04","links":[{"label":"Dentro et al., Cell 2021","url":"https://doi.org/10.1016/j.cell.2021.03.009"},{"label":"PubMed","url":"https://pubmed.ncbi.nlm.nih.gov/33831375/"}],"tags":[],"related":[],"cancers":["breast-cancer"],"sections":["diagnostics"],"technologies":["wes-wgs"],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":["b-subclone-attribution-residual-disease","b-tumor-heterogeneity"],"keyPapers":[],"journals":["cell"],"dependsOn":[],"notes":[],"journal":"Cell","year":2021,"doi":"10.1016/j.cell.2021.03.009","pmid":"33831375","authors":"Dentro SC, Leshchiner I, Haase K, et al.","paperType":"translational","findings":["95.1% of informative samples had distinct subclonal expansions.","Branching relationships between subclones were frequent.","Subclonal driver mutations under positive selection across most cancer types."],"whatItMeans":"Nearly every tumour has subclones, so a residual disease result built only from shared trunk mutations cannot say which branch is left.","caveats":["One sample per tumour for most cases, which under-calls heterogeneity."],"participants":2658},"route":"/key-papers/paper-dentro-pcawg-intratumour-heterogeneity-cell-2021/","neighbours":{"cancer":[{"id":"breast-cancer","kind":"cancer","name":"Breast cancer (all types)","route":"/cancers/breast-cancer/"}],"section":[{"id":"diagnostics","kind":"section","name":"Diagnostics & Biomarkers","route":"/fronts/diagnostics/"}],"technology":[{"id":"wes-wgs","kind":"technology","name":"Whole-exome & whole-genome sequencing","route":"/technologies/wes-wgs/"}],"bottleneck":[{"id":"b-subclone-attribution-residual-disease","kind":"bottleneck","name":"Naming which clone or phenotype is left after treatment","route":"/bottlenecks/b-subclone-attribution-residual-disease/"},{"id":"b-tumor-heterogeneity","kind":"bottleneck","name":"Tumour heterogeneity and clonal evolution","route":"/bottlenecks/b-tumor-heterogeneity/"}],"journal":[{"id":"cell","kind":"journal","name":"Cell","route":"/journals/cell/"}]}}