| Literature DB >> 24703847 |
Xiang Chen1, Armita Bahrami2, Alberto Pappo3, John Easton1, James Dalton2, Erin Hedlund1, David Ellison2, Sheila Shurtleff2, Gang Wu1, Lei Wei1, Matthew Parker1, Michael Rusch1, Panduka Nagahawatte1, Jianrong Wu4, Shenghua Mao4, Kristy Boggs1, Heather Mulder1, Donald Yergeau1, Charles Lu5, Li Ding5, Michael Edmonson1, Chunxu Qu1, Jianmin Wang1, Yongjin Li1, Fariba Navid3, Najat C Daw6, Elaine R Mardis7, Richard K Wilson8, James R Downing3, Jinghui Zhang9, Michael A Dyer10.
Abstract
Pediatric osteosarcoma is characterized by multiple somatic chromosomal lesions, including structural variations (SVs) and copy number alterations (CNAs). To define the landscape of somatic mutations in pediatric osteosarcoma, we performed whole-genome sequencing of DNA from 20 osteosarcoma tumor samples and matched normal tissue in a discovery cohort, as well as 14 samples in a validation cohort. Single-nucleotide variations (SNVs) exhibited a pattern of localized hypermutation called kataegis in 50% of the tumors. We identified p53 pathway lesions in all tumors in the discovery cohort, nine of which were translocations in the first intron of the TP53 gene. Beyond TP53, the RB1, ATRX, and DLG2 genes showed recurrent somatic alterations in 29%-53% of the tumors. These data highlight the power of whole-genome sequencing for identifying recurrent somatic alterations in cancer genomes that may be missed using other methods.Entities:
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Year: 2014 PMID： 24703847 PMCID： PMC4096827 DOI： 10.1016/j.celrep.2014.03.003
Source DB: PubMed Journal: Cell Rep Impact factor: 9.423