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

Observation of chi(cJ) -> Lambda(Lambda)over-bar(eta)

By analyzing (448.1 +/- 2.9) x 10(6) psi(3686) events collected with the BESIII detector operating at the BEPCII collider, the decays of chi(cJ) -> Lambda(Lambda) over bar (eta) (J = 0, 1, and 2) are observed for the first time with statistical significances of 13.9 sigma, 6.7 sigma, and 8.2 sigma, respectively. The product branching fractions of psi(3686) -> gamma chi(cJ) and chi(cJ) -> Lambda(Lambda) over bar (eta) are measured. Dividing by the world averages of the branching fractions of psi(3686) -> gamma chi(cJ), the branching fractions of chi(cJ) -> Lambda(Lambda) over bar (eta) decays are determined to be (2.31 +/- 0.30 +/- 0.21) x 10(-4), (5.86 +/- 1.38 +/- 0.68) x 10(-5), and (1.05 +/- 0.21 +/- 0.15) x 10(-4) for J = 0, 1 and 2, respectively, where the first uncertainties are statistical and the second systematic

Measurement of the e(+) e(-) -> omega pi(0)pi(0) cross section at center-of-mass energies from 2.0 to 3.08 GeV

The cross section of the process e(+)e(-) -> omega pi(0)pi(0) is measured at nineteen center-of-mass energies from 2.0 to 3.08 GeV using data collected with the BESIII detector at the BEPCII storage ring. A resonant structure around 2.20 GeV is observed with statistical significance larger than 5 sigma. Using a coherent fit to the cross section line shape, the mass and width are determined to be M = 2222 +/- 7 +/- 2 MeV/c(2) and Gamma = 59 +/- 30 +/- 6 MeV, respectively, where the first uncertainties are statistical and the second ones are systematic

Study of the resonance structures in the process e(+) e(-) -> pi(+) pi(-) J/psi

Using about 23 fb(-1) of data collected with the BESIII detector operating at the BEPCII storage ring, a precise measurement of the e(+) e(-) -> pi(+) pi(-) J/psi Born cross section is performed at center-of-mass energies from 3.7730 to 4.7008 GeV. Two structures, identified as the Y(4220) and the Y(4320) states, are observed in the energy-dependent cross section with a significance larger than 10 sigma. The masses and widths of the two structures are determined to be (M,(sic)) = (4221.4 +/- 1.5 +/- 2.0 MeV=c(2); 41.8 +/- 2.9 +/- 2.7 MeV) and (M,(sic)) = (4298 +/- 12 +/- 26 MeV=c(2); 127 +/- 17 +/- 10 MeV)respectively. A small enhancement around 4.5 GeV with a significance about 3s, compatible with the psi(4415), might also indicate the presence of an additional resonance in the spectrum. The inclusion of this additional contribution in the fit to the cross section affects the resonance parameters of the Y(4320) state