Pan-cancer analysis of whole genomes

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(1-3). 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(4); identifies new signatures of mutational processes that cause base substitutions, small insertions and deletions and structural variation(5,6); analyses timings and patterns of tumour evolution(7); describes the diverse transcriptional consequences of somatic mutation on splicing, expression levels, fusion genes and promoter activity(8,9); and evaluates a range of more-specialized features of cancer genomes(8,10-18).Peer reviewe

Quantum ratchet effects induced by terahertz radiation in GaN-based two-dimensional structures

Photogalvanic effects are observed and investigated in wurtzite (0001)-oriented GaN/AlGaN low-dimensional structures excited by terahertz radiation. The structures are shown to represent linear quantum ratchets. Experimental and theoretical analysis exhibits that the observed photocurrents are related to the lack of an inversion center in the GaN-based heterojunctions.</p

Circular photogalvanic effect in HgTe/CdHgTe quantum well structures

We describe the observation of the circular and linear photogalvanic effects in HgTe/CdHgTe quantum wells. The interband absorption of mid-infrared radiation as well as the intrasubband absorption of terahertz (THz) radiation in the QWs structures is shown to cause a dc electric current due to these effects. The photocurrent magnitude and direction varies with the radiation polarization state and crystallographic orientation of the substrate in a simple way that can be understood from a phenomenological theory. The observed dependences of the photocurrent on the radiation wavelength and temperature are discussed