{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Funnell T"],"funding":["Cancer Research UK","NCI NIH HHS"],"pagination":["106-115"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC9712114"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["612(7938)"],"pubmed_abstract":["How cell-to-cell copy number alterations that underpin genomic instability<sup>1</sup> in human cancers drive genomic and phenotypic variation, and consequently the evolution of cancer<sup>2</sup>, remains understudied. Here, by applying scaled single-cell whole-genome sequencing<sup>3</sup> to wild-type, TP53-deficient and TP53-deficient;BRCA1-deficient or TP53-deficient;BRCA2-deficient mammary epithelial cells (13,818 genomes), and to primary triple-negative breast cancer (TNBC) and high-grade serous ovarian cancer (HGSC) cells (22,057 genomes), we identify three distinct 'foreground' mutational patterns that are defined by cell-to-cell structural variation. Cell- and clone-specific high-level amplifications, parallel haplotype-specific copy number alterations and copy number segment len"],"journal":["Nature"],"pubmed_title":["Single-cell genomic variation induced by mutational processes in cancer."],"pmcid":["PMC9712114"],"funding_grant_id":["K99 CA256508","P30 CA008748"],"pubmed_authors":["Grewal D","Greenwood W","Moore RA","Shah SP","Pham J","Ceglia N","Lim JLP","Biele J","Williams E","Uhlitz F","Alon S","Funnell T","Walton NA","Liu YF","O'Flanagan CH","Abrams D","Gonzalez-Fernandez C","Van Vliet M","Wassie AT","Bruna A","Eirew P","Battistoni G","IMAXT Consortium","Zamarin D","Burger M","Karagiannis ED","Grimaldo F","Zheng P","Xu H","de Algara TR","Fisher E","Llanos VC","Boyden ES","Shea A","Weiner AC","Qosaj F","Miller N","Casbolt H","Tietscher S","Lee M","Hannon GJ","Lee H","Beatty S","Roth A","Zaikova E","Douglas JM","Fan J","Chornay N","Rueda OM","Huntsman DG","Kabeer F","Balasubramanian S","McPherson A","Bodenmiller B","Caldas C","Pearson I","Bojilova V","Cui Y","Eyal-Lubling Y","Brimhall J","Lee SR","Sawicka K","Shi H","Yap D","Zhang AW","Sinha A","Havasov E","Wang B","Mulvey CM","Joyce JA","Weigelt B","Watson SS","Aparicio S","Gonzalez-Solares EA","Salehi S","Masud T","Kim SH","Au V","Dinh KN","Tavare S","Xia C","Laks E","Vogl SL","Da Cruz Paula A","Kuett L","Nugent F","Martin SD","Li Y","Jauset C","McKinney S","Emenari A","Lai D","Ribes MP","Goodwin DR","Vazquez-Garcia I","Becker R","Wild SA","Dariush A","Reis-Filho JS","Williams MJ","Kovacevic T","Yoldas AK","Sepulveda LA","Bressan D","Kunes R","Al Sa'd M","McAlpine JN","Windhager J","Harris O","Cannell IG","Smith A","Harris S","Zhuang X","Ting J","Leventhal E","Callari M","Lerda G","Rusk N","Leung S"],"additional_accession":[]},"is_claimable":false,"name":"Single-cell genomic variation induced by mutational processes in cancer.","description":"How cell-to-cell copy number alterations that underpin genomic instability<sup>1</sup> in human cancers drive genomic and phenotypic variation, and consequently the evolution of cancer<sup>2</sup>, remains understudied. Here, by applying scaled single-cell whole-genome sequencing<sup>3</sup> to wild-type, TP53-deficient and TP53-deficient;BRCA1-deficient or TP53-deficient;BRCA2-deficient mammary epithelial cells (13,818 genomes), and to primary triple-negative breast cancer (TNBC) and high-grade serous ovarian cancer (HGSC) cells (22,057 genomes), we identify three distinct 'foreground' mutational patterns that are defined by cell-to-cell structural variation. Cell- and clone-specific high-level amplifications, parallel haplotype-specific copy number alterations and copy number segment len","dates":{"release":"2022-01-01T00:00:00Z","publication":"2022 Dec","modification":"2025-04-25T17:14:53.558Z","creation":"2025-04-06T04:55:03.294Z"},"accession":"S-EPMC9712114","cross_references":{"pubmed":["36289342"],"doi":["10.1038/s41586-022-05249-0"]}}