Idioma:

Comprehensive analysis of chromothripsis in 2,658 human cancers using whole-genome sequencing

Cortés-Ciriano, Isidro ; Lee, Jake June-Koo ; Xi, Ruibin ; Jain, Dhawal ; Jung, Youngsook L ; Yang, Lixing ; Gordenin, Dmitry ; Klimczak, Leszek J ; Zhang, Cheng-Zhong ; Pellman, David S ; Park, Peter J

Nature genetics, 2020-03, Vol.52 (3), p.331-341 [Periódico revisado por pares]

United States: Nature Publishing Group

Texto completo disponível

Citações Citado por

Enviar para

Título:
Comprehensive analysis of chromothripsis in 2,658 human cancers using whole-genome sequencing
Autor: Cortés-Ciriano, Isidro ; Lee, Jake June-Koo ; Xi, Ruibin ; Jain, Dhawal ; Jung, Youngsook L ; Yang, Lixing ; Gordenin, Dmitry ; Klimczak, Leszek J ; Zhang, Cheng-Zhong ; Pellman, David S ; Park, Peter J
Assuntos: Analysis ; Basic Medicine ; Cancer ; Chromosomes ; Chromothripsis ; Consortia ; Datasets ; Deactivation ; Deoxyribonucleic acid ; Development and progression ; DNA ; Evolution, Molecular ; Gene sequencing ; Genes ; Genetic aspects ; Genetic research ; Genome, Human - genetics ; Genomes ; Genomics ; Health aspects ; Homology ; Humans ; Inactivation ; Medical and Health Sciences ; Medical Genetics ; Medicin och hälsovetenskap ; Medicinsk genetik ; Medicinska och farmaceutiska grundvetenskaper ; Melanoma ; Mutation ; Mutation (Biology) ; Natural history ; Neoplasms - genetics ; Non-homologous end joining ; Oncology, Experimental ; Oscillations ; Tumors ; Whole Genome Sequencing
É parte de: Nature genetics, 2020-03, Vol.52 (3), p.331-341
Descrição: Chromothripsis is a mutational phenomenon characterized by massive, clustered genomic rearrangements that occurs in cancer and other diseases. Recent studies in selected cancer types have suggested that chromothripsis may be more common than initially inferred from low-resolution copy-number data. Here, as part of the Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium of the International Cancer Genome Consortium (ICGC) and The Cancer Genome Atlas (TCGA), we analyze patterns of chromothripsis across 2,658 tumors from 38 cancer types using whole-genome sequencing data. We find that chromothripsis events are pervasive across cancers, with a frequency of more than 50% in several cancer types. Whereas canonical chromothripsis profiles display oscillations between two copy-number states, a considerable fraction of events involve multiple chromosomes and additional structural alterations. In addition to non-homologous end joining, we detect signatures of replication-associated processes and templated insertions. Chromothripsis contributes to oncogene amplification and to inactivation of genes such as mismatch-repair-related genes. These findings show that chromothripsis is a major process that drives genome evolution in human cancer.
Editor: United States: Nature Publishing Group
Idioma: Inglês

Links

Voltar para lista de resultados

Realização: Logos de Redes Sociais:

Comprehensive analysis of chromothripsis in 2,658 human cancers using whole-genome sequencing

Cortés-Ciriano, Isidro ; Lee, Jake June-Koo ; Xi, Ruibin ; Jain, Dhawal ; Jung, Youngsook L ; Yang, Lixing ; Gordenin, Dmitry ; Klimczak, Leszek J ; Zhang, Cheng-Zhong ; Pellman, David S ; Park, Peter J

United States: Nature Publishing Group

Buscando em bases de dados remotas. Favor aguardar.