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Pregled bibliografske jedinice broj: 1104729

Pan-cancer analysis of whole genomes


(The ICGC/TCGA Pan-Cancer Analysis of Whole Genomes Consortium) The ICGC/TCGA Pan-Cancer Analysis of Whole Genomes Consortium
Pan-cancer analysis of whole genomes // Nature, 578 (2020), 7793; 82-93 doi:10.1038/s41586-020-1969-6 (međunarodna recenzija, članak, znanstveni)


CROSBI ID: 1104729 Za ispravke kontaktirajte CROSBI podršku putem web obrasca

Naslov
Pan-cancer analysis of whole genomes

Autori
The ICGC/TCGA Pan-Cancer Analysis of Whole Genomes Consortium

Kolaboracija
The ICGC/TCGA Pan-Cancer Analysis of Whole Genomes Consortium

Izvornik
Nature (0028-0836) 578 (2020), 7793; 82-93

Vrsta, podvrsta i kategorija rada
Radovi u časopisima, članak, znanstveni

Ključne riječi
DNA Mutational Analysis ; Evolution ; Genetic / genetics ; Genome ; Genomics ; Germ-Line Mutation / genetics ; High-Throughput Nucleotide Sequencing ; Human / genetics ; Humans ; ICGC/TCGA Pan-Cancer Analysis of Whole Genomes Consortium

Sažetak
Cancer is driven by genetic change, and the advent of massively parallel sequencing has enabled systematic documentation of this variation at the whole-genome scale. Here we report the integrative analysis of 2, 658 whole-cancer genomes and their matching normal tissues across 38 tumour types from the Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium of the International Cancer Genome Consortium (ICGC) and The Cancer Genome Atlas (TCGA). We describe the generation of the PCAWG resource, facilitated by international data sharing using compute clouds. On average, cancer genomes contained 4–5 driver mutations when combining coding and non-coding genomic elements ; however, in around 5% of cases no drivers were identified, suggesting that cancer driver discovery is not yet complete. Chromothripsis, in which many clustered structural variants arise in a single catastrophic event, is frequently an early event in tumour evolution ; in acral melanoma, for example, these events precede most somatic point mutations and affect several cancer- associated genes simultaneously. Cancers with abnormal telomere maintenance often originate from tissues with low replicative activity and show several mechanisms of preventing telomere attrition to critical levels. Common and rare germline variants affect patterns of somatic mutation, including point mutations, structural variants and somatic retrotransposition. A collection of papers from the PCAWG Consortium describes non-coding mutations that drive cancer beyond those in the TERT promoter ; identifies new signatures of mutational processes that cause base substitutions, small insertions and deletions and structural variation ; analyses timings and patterns of tumour evolution ; describes the diverse transcriptional consequences of somatic mutation on splicing, expression levels, fusion genes and promoter activity ; and evaluates a range of more-specialized features of cancer genomes.

Izvorni jezik
Engleski

Znanstvena područja
Biologija



POVEZANOST RADA


Projekti:
HRZZ-IP-2014-09-6400 - Istraživanje razvoja, diferencijacije i evolucije životinja kroz genomiku bazalnih metazoa (BAMGEN) (Vlahoviček, Kristian, HRZZ - 2014-09) ( POIROT)
EK-KF-KK.01.1.1.01.009 - Napredne metode i tehnologije u znanosti o podatcima i kooperativnim sustavima (DATACROSS) (Lončarić, Sven; Ivan, Petrović, EK - KK.01.1.1.01) ( POIROT)
EK-KF-KK.01.1.1.01.0010 - ZCI za personaliziranu brigu o zdravlju (ZCIPersonHealth) (Secenji, Aleksandar, EK ) ( POIROT)

Ustanove:
Prirodoslovno-matematički fakultet, Zagreb

Profili:

Avatar Url Rosa Karlić (autor)

Citiraj ovu publikaciju

(The ICGC/TCGA Pan-Cancer Analysis of Whole Genomes Consortium) The ICGC/TCGA Pan-Cancer Analysis of Whole Genomes Consortium
Pan-cancer analysis of whole genomes // Nature, 578 (2020), 7793; 82-93 doi:10.1038/s41586-020-1969-6 (međunarodna recenzija, članak, znanstveni)
(The ICGC/TCGA Pan-Cancer Analysis of Whole Genomes Consortium) (The ICGC/TCGA Pan-Cancer Analysis of Whole Genomes Consortium) The ICGC/TCGA Pan-Cancer Analysis of Whole Genomes Consortium (2020) Pan-cancer analysis of whole genomes. Nature, 578 (7793), 82-93 doi:10.1038/s41586-020-1969-6.
@article{article, year = {2020}, pages = {82-93}, DOI = {10.1038/s41586-020-1969-6}, keywords = {DNA Mutational Analysis, Evolution, Genetic / genetics, Genome, Genomics, Germ-Line Mutation / genetics, High-Throughput Nucleotide Sequencing, Human / genetics, Humans, ICGC/TCGA Pan-Cancer Analysis of Whole Genomes Consortium}, journal = {Nature}, doi = {10.1038/s41586-020-1969-6}, volume = {578}, number = {7793}, issn = {0028-0836}, title = {Pan-cancer analysis of whole genomes}, keyword = {DNA Mutational Analysis, Evolution, Genetic / genetics, Genome, Genomics, Germ-Line Mutation / genetics, High-Throughput Nucleotide Sequencing, Human / genetics, Humans, ICGC/TCGA Pan-Cancer Analysis of Whole Genomes Consortium} }
@article{article, year = {2020}, pages = {82-93}, DOI = {10.1038/s41586-020-1969-6}, keywords = {DNA Mutational Analysis, Evolution, Genetic / genetics, Genome, Genomics, Germ-Line Mutation / genetics, High-Throughput Nucleotide Sequencing, Human / genetics, Humans, ICGC/TCGA Pan-Cancer Analysis of Whole Genomes Consortium}, journal = {Nature}, doi = {10.1038/s41586-020-1969-6}, volume = {578}, number = {7793}, issn = {0028-0836}, title = {Pan-cancer analysis of whole genomes}, keyword = {DNA Mutational Analysis, Evolution, Genetic / genetics, Genome, Genomics, Germ-Line Mutation / genetics, High-Throughput Nucleotide Sequencing, Human / genetics, Humans, ICGC/TCGA Pan-Cancer Analysis of Whole Genomes Consortium} }

Časopis indeksira:


  • Current Contents Connect (CCC)
  • Web of Science Core Collection (WoSCC)
    • Science Citation Index Expanded (SCI-EXP)
    • SCI-EXP, SSCI i/ili A&HCI
  • Scopus
  • MEDLINE


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