The Pediatric Cancer Genome Project
作者： James R Downing , Richard K Wilson , Jinghui Zhang , Elaine R Mardis , Ching-Hon Pui
DOI: 10.1038/NG.2287
关键词:
摘要: Subject terms: Cancer genomics• Paediatric cancer• Sequencing At a glance Figures View all figures Figure 1: Frequency of cancer diagnoses and leukemia subtypes in children adults. (a) The frequency types (left) adults (right) on the basis 2012 Surveillance, Epidemiology End Results (SEER) data. Each chart is organized with cancers listed from most common to least clockwise fashion. (b) T-cell lineage (blue text) B-cell (black acute lymphoblastic (ALL) (right). ALL iAMP21, intrachromosomal amplification chromosome 21. Full size image View article Figure 2: Genetic landscape 15 different pediatric determined whole-genome sequencing 260 tumors matching germline samples. The number somatic mutations each sample, including single-nucleotide variations (SNVs), insertion and/or deletion events (indels) structural variations, shown as height three-dimensional graph. Only high-quality or validated are included summary. CDS, protein-coding regions; tier 1, annotated genes; 2, non-coding conserved regulatory 3, non-repetitive, non-conserved 4, repetitive regions. Tier 2 3/tier 4 were rescaled 1/10 1/100 original counts maintain consistent scale results for other lesions. INF, infant ALL; CBF, core-binding-factor myeloid leukemia; TALL, AMLM7, megakaryoblastic HYPO, hypodiploid PHALL, Philadelphia chromosome–positive BCR-ABL1 RB, retinoblastoma; RHB, rhabdomyosarcoma; NBL, neuroblastoma; OS, osteosarcoma; ACT, adrenocortical carcinoma; HGG, high-grade glioblastoma; LGG, low-grade glioma; EPD, ependymoma; MB, medulloblastoma. Full article
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