Whole-genome landscape of mucosal melanoma reveals diverse drivers and therapeutic targets.

Abstract:

:Knowledge of key drivers and therapeutic targets in mucosal melanoma is limited due to the paucity of comprehensive mutation data on this rare tumor type. To better understand the genomic landscape of mucosal melanoma, here we describe whole genome sequencing analysis of 67 tumors and validation of driver gene mutations by exome sequencing of 45 tumors. Tumors have a low point mutation burden and high numbers of structural variants, including recurrent structural rearrangements targeting TERT, CDK4 and MDM2. Significantly mutated genes are NRAS, BRAF, NF1, KIT, SF3B1, TP53, SPRED1, ATRX, HLA-A and CHD8. SF3B1 mutations occur more commonly in female genital and anorectal melanomas and CTNNB1 mutations implicate a role for WNT signaling defects in the genesis of some mucosal melanomas. TERT aberrations and ATRX mutations are associated with alterations in telomere length. Mutation profiles of the majority of mucosal melanomas suggest potential susceptibility to CDK4/6 and/or MEK inhibitors.

journal_name

Nat Commun

journal_title

Nature communications

authors

Newell F,Kong Y,Wilmott JS,Johansson PA,Ferguson PM,Cui C,Li Z,Kazakoff SH,Burke H,Dodds TJ,Patch AM,Nones K,Tembe V,Shang P,van der Weyden L,Wong K,Holmes O,Lo S,Leonard C,Wood S,Xu Q,Rawson RV,Mukhopadhyay P

doi

10.1038/s41467-019-11107-x

subject

Has Abstract

pub_date

2019-07-18 00:00:00

pages

3163

issue

1

issn

2041-1723

pii

10.1038/s41467-019-11107-x

journal_volume

10

pub_type

杂志文章
  • Microfluidic multipoles theory and applications.

    abstract::Microfluidic multipoles (MFMs) have been realized experimentally and hold promise for "open-space" biological and chemical surface processing. Whereas convective flow can readily be predicted using hydraulic-electrical analogies, the design of advanced microfluidic multipole is constrained by the lack of simple, accur...

    journal_title:Nature communications

    pub_type: 杂志文章

    doi:10.1038/s41467-019-09740-7

    authors: Goyette PA,Boulais É,Normandeau F,Laberge G,Juncker D,Gervais T

    更新日期:2019-04-16 00:00:00

  • Author Correction: Liquid crystal elastomer coatings with programmed response of surface profile.

    abstract::The original version of this Article contained errors in Figs. 1a, 2a, 3a, and 4b, in which the units on the scale bars incorrectly read 'µm' rather than the correct 'nm.' This has been corrected in both the PDF and HTML versions of the Article. ...

    journal_title:Nature communications

    pub_type: 杂志文章,已发布勘误

    doi:10.1038/s41467-018-03634-w

    authors: Babakhanova G,Turiv T,Guo Y,Hendrikx M,Wei QH,Schenning APHJ,Broer DJ,Lavrentovich OD

    更新日期:2018-03-14 00:00:00

  • Specific stereochemistry of OP-1074 disrupts estrogen receptor alpha helix 12 and confers pure antiestrogenic activity.

    abstract::Complex tissue-specific and cell-specific signaling by the estrogen receptor (ER) frequently leads to the development of resistance to endocrine therapy for breast cancer. Pure ER antagonists, which completely lack tissue-specific agonist activity, hold promise for preventing and treating endocrine resistance, however...

    journal_title:Nature communications

    pub_type: 杂志文章

    doi:10.1038/s41467-018-04413-3

    authors: Fanning SW,Hodges-Gallagher L,Myles DC,Sun R,Fowler CE,Plant IN,Green BD,Harmon CL,Greene GL,Kushner PJ

    更新日期:2018-06-18 00:00:00

  • Elucidation of the biosynthesis of carnosic acid and its reconstitution in yeast.

    abstract::Rosemary extracts containing the phenolic diterpenes carnosic acid and its derivative carnosol are approved food additives used in an increasingly wide range of products to enhance shelf-life, thanks to their high anti-oxidant activity. We describe here the elucidation of the complete biosynthetic pathway of carnosic ...

    journal_title:Nature communications

    pub_type: 杂志文章

    doi:10.1038/ncomms12942

    authors: Scheler U,Brandt W,Porzel A,Rothe K,Manzano D,Božić D,Papaefthimiou D,Balcke GU,Henning A,Lohse S,Marillonnet S,Kanellis AK,Ferrer A,Tissier A

    更新日期:2016-10-05 00:00:00

  • Consistent population declines but idiosyncratic range shifts in Alpine orchids under global change.

    abstract::Mountains are plant biodiversity hotspots considered particularly vulnerable to multiple environmental changes. Here, we quantify population changes and range-shift dynamics along elevational gradients over the last three decades for c. two-thirds of the orchid species of the European Alps. Local extinctions were more...

    journal_title:Nature communications

    pub_type: 杂志文章

    doi:10.1038/s41467-020-19680-2

    authors: Geppert C,Perazza G,Wilson RJ,Bertolli A,Prosser F,Melchiori G,Marini L

    更新日期:2020-11-17 00:00:00

  • Weakening of the stratospheric polar vortex by Arctic sea-ice loss.

    abstract::Successive cold winters of severely low temperatures in recent years have had critical social and economic impacts on the mid-latitude continents in the Northern Hemisphere. Although these cold winters are thought to be partly driven by dramatic losses of Arctic sea-ice, the mechanism that links sea-ice loss to cold w...

    journal_title:Nature communications

    pub_type: 杂志文章

    doi:10.1038/ncomms5646

    authors: Kim BM,Son SW,Min SK,Jeong JH,Kim SJ,Zhang X,Shim T,Yoon JH

    更新日期:2014-09-02 00:00:00

  • TALEN outperforms Cas9 in editing heterochromatin target sites.

    abstract::Genome editing critically relies on selective recognition of target sites. However, despite recent progress, the underlying search mechanism of genome-editing proteins is not fully understood in the context of cellular chromatin environments. Here, we use single-molecule imaging in live cells to directly study the beh...

    journal_title:Nature communications

    pub_type: 杂志文章

    doi:10.1038/s41467-020-20672-5

    authors: Jain S,Shukla S,Yang C,Zhang M,Fatma Z,Lingamaneni M,Abesteh S,Lane ST,Xiong X,Wang Y,Schroeder CM,Selvin PR,Zhao H

    更新日期:2021-01-27 00:00:00

  • Quantifying the polygenic contribution to variable expressivity in eleven rare genetic disorders.

    abstract::Rare genetic disorders (RGDs) often exhibit significant clinical variability among affected individuals, a disease characteristic termed variable expressivity. Recently, the aggregate effect of common variation, quantified as polygenic scores (PGSs), has emerged as an effective tool for predictions of disease risk and...

    journal_title:Nature communications

    pub_type: 杂志文章

    doi:10.1038/s41467-019-12869-0

    authors: Oetjens MT,Kelly MA,Sturm AC,Martin CL,Ledbetter DH

    更新日期:2019-10-25 00:00:00

  • Dynamic urea bond for the design of reversible and self-healing polymers.

    abstract::Polymers bearing dynamic covalent bonds may exhibit dynamic properties, such as self-healing, shape memory and environmental adaptation. However, most dynamic covalent chemistries developed so far require either catalyst or change of environmental conditions to facilitate bond reversion and dynamic property change in ...

    journal_title:Nature communications

    pub_type: 杂志文章

    doi:10.1038/ncomms4218

    authors: Ying H,Zhang Y,Cheng J

    更新日期:2014-01-01 00:00:00

  • De novo compartment deconvolution and weight estimation of tumor samples using DECODER.

    abstract::Tumors are mixtures of different compartments. While global gene expression analysis profiles the average expression of all compartments in a sample, identifying the specific contribution of each compartment remains a challenge. With the increasing recognition of the importance of non-neoplastic components, the abilit...

    journal_title:Nature communications

    pub_type: 杂志文章

    doi:10.1038/s41467-019-12517-7

    authors: Peng XL,Moffitt RA,Torphy RJ,Volmar KE,Yeh JJ

    更新日期:2019-10-18 00:00:00

  • Highly efficient oxygen evolution reaction via facile bubble transport realized by three-dimensionally stack-printed catalysts.

    abstract::Despite highly promising characteristics of three-dimensionally (3D) nanostructured catalysts for the oxygen evolution reaction (OER) in polymer electrolyte membrane water electrolyzers (PEMWEs), universal design rules for maximizing their performance have not been explored. Here we show that woodpile (WP)-structured ...

    journal_title:Nature communications

    pub_type: 杂志文章

    doi:10.1038/s41467-020-18686-0

    authors: Kim YJ,Lim A,Kim JM,Lim D,Chae KH,Cho EN,Han HJ,Jeon KU,Kim M,Lee GH,Lee GR,Ahn HS,Park HS,Kim H,Kim JY,Jung YS

    更新日期:2020-10-01 00:00:00

  • eEF2 and Ras-GAP SH3 domain-binding protein (G3BP1) modulate stress granule assembly during HIV-1 infection.

    abstract::Stress granules (SG) are translationally silent sites of RNA triage induced by environmental stresses including viral infection. Here we show that HIV-1 Gag blocks SG assembly irrespective of eIF2α phosphorylation and even when SG assembly is forced by overexpression of Ras-GAP SH3 domain-binding protein (G3BP1) or TI...

    journal_title:Nature communications

    pub_type: 杂志文章

    doi:10.1038/ncomms5819

    authors: Valiente-Echeverría F,Melnychuk L,Vyboh K,Ajamian L,Gallouzi IE,Bernard N,Mouland AJ

    更新日期:2014-09-17 00:00:00

  • Functional ultrasound imaging of the brain reveals propagation of task-related brain activity in behaving primates.

    abstract::Neuroimaging modalities such as MRI and EEG are able to record from the whole brain, but this comes at the price of either limited spatiotemporal resolution or limited sensitivity. Here, we show that functional ultrasound imaging (fUS) of the brain is able to assess local changes in cerebral blood volume during cognit...

    journal_title:Nature communications

    pub_type: 杂志文章

    doi:10.1038/s41467-019-09349-w

    authors: Dizeux A,Gesnik M,Ahnine H,Blaize K,Arcizet F,Picaud S,Sahel JA,Deffieux T,Pouget P,Tanter M

    更新日期:2019-03-28 00:00:00

  • Structural basis of subtype-selective competitive antagonism for GluN2C/2D-containing NMDA receptors.

    abstract::N-Methyl-D-aspartate receptors (NMDARs) play critical roles in the central nervous system. Their heterotetrameric composition generates subtypes with distinct functional properties and spatio-temporal distribution in the brain, raising the possibility for subtype-specific targeting by pharmacological means for treatme...

    journal_title:Nature communications

    pub_type: 杂志文章

    doi:10.1038/s41467-020-14321-0

    authors: Wang JX,Irvine MW,Burnell ES,Sapkota K,Thatcher RJ,Li M,Simorowski N,Volianskis A,Collingridge GL,Monaghan DT,Jane DE,Furukawa H

    更新日期:2020-01-22 00:00:00

  • Role of syn-eruptive plagioclase disequilibrium crystallization in basaltic magma ascent dynamics.

    abstract::Timescales of magma ascent in conduit models are typically assumed to be much longer than crystallization and gas exsolution for basaltic eruptions. However, it is now recognized that basaltic magmas may rise fast enough for disequilibrium processes to play a key role on the ascent dynamics. The quantification of the ...

    journal_title:Nature communications

    pub_type: 杂志文章

    doi:10.1038/ncomms13402

    authors: La Spina G,Burton M,De' Michieli Vitturi M,Arzilli F

    更新日期:2016-12-12 00:00:00

  • Ferroelectric tunnel junctions with graphene electrodes.

    abstract::Polarization-driven resistive switching in ferroelectric tunnel junctions (FTJs)--structures composed of two electrodes separated by an ultrathin ferroelectric barrier--offers new physics and materials functionalities, as well as exciting opportunities for the next generation of non-volatile memories and logic devices...

    journal_title:Nature communications

    pub_type: 杂志文章

    doi:10.1038/ncomms6518

    authors: Lu H,Lipatov A,Ryu S,Kim DJ,Lee H,Zhuravlev MY,Eom CB,Tsymbal EY,Sinitskii A,Gruverman A

    更新日期:2014-11-24 00:00:00

  • Full-field implementation of a perfect eavesdropper on a quantum cryptography system.

    abstract::Quantum key distribution (QKD) allows two remote parties to grow a shared secret key. Its security is founded on the principles of quantum mechanics, but in reality it significantly relies on the physical implementation. Technological imperfections of QKD systems have been previously explored, but no attack on an esta...

    journal_title:Nature communications

    pub_type: 杂志文章

    doi:10.1038/ncomms1348

    authors: Gerhardt I,Liu Q,Lamas-Linares A,Skaar J,Kurtsiefer C,Makarov V

    更新日期:2011-06-14 00:00:00

  • Size-dependent activity and selectivity of carbon dioxide photocatalytic reduction over platinum nanoparticles.

    abstract::Platinum nanoparticles (Pt NPs) are one of the most efficient cocatalysts in photocatalysis, and their size determines the activity and the selectivity of the catalytic reaction. Nevertheless, an in-depth understanding of the platinum's size effect in the carbon dioxide photocatalytic reduction is still lacking. Throu...

    journal_title:Nature communications

    pub_type: 杂志文章

    doi:10.1038/s41467-018-03666-2

    authors: Dong C,Lian C,Hu S,Deng Z,Gong J,Li M,Liu H,Xing M,Zhang J

    更新日期:2018-03-28 00:00:00

  • AXER is an ATP/ADP exchanger in the membrane of the endoplasmic reticulum.

    abstract::To fulfill its role in protein biogenesis, the endoplasmic reticulum (ER) depends on the Hsp70-type molecular chaperone BiP, which requires a constant ATP supply. However, the carrier that catalyzes ATP uptake into the ER was unknown. Here, we report that our screen of gene expression datasets for member(s) of the fam...

    journal_title:Nature communications

    pub_type: 杂志文章

    doi:10.1038/s41467-018-06003-9

    authors: Klein MC,Zimmermann K,Schorr S,Landini M,Klemens PAW,Altensell J,Jung M,Krause E,Nguyen D,Helms V,Rettig J,Fecher-Trost C,Cavalié A,Hoth M,Bogeski I,Neuhaus HE,Zimmermann R,Lang S,Haferkamp I

    更新日期:2018-08-28 00:00:00

  • Rational strategy for shaped nanomaterial synthesis in reverse micelle reactors.

    abstract::The shape-controlled synthesis of nanoparticles was established in single-phase solutions by controlling growth directions of crystalline facets on seed nanocrystals kinetically; however, it was difficult to rationally predict and design nanoparticle shapes. Here we introduce a methodology to fabricate nanoparticles i...

    journal_title:Nature communications

    pub_type: 杂志文章

    doi:10.1038/ncomms4870

    authors: Wei Z,Matsui H

    更新日期:2014-05-14 00:00:00

  • Erratum: Observation of ultrahigh mobility surface states in a topological crystalline insulator by infrared spectroscopy.

    abstract::A correction to this article has been published and is linked from the HTML version of this article. ...

    journal_title:Nature communications

    pub_type: 杂志文章,已发布勘误

    doi:10.1038/s41467-017-01354-1

    authors: Wang Y,Luo G,Liu J,Sankar R,Wang NL,Chou F,Fu L,Li Z

    更新日期:2017-10-12 00:00:00

  • Thermal control of sequential on-surface transformation of a hydrocarbon molecule on a copper surface.

    abstract::On-surface chemical reactions hold the potential for manufacturing nanoscale structures directly onto surfaces by linking carbon atoms in a single-step reaction. To fabricate more complex and functionalized structures, the control of the on-surface chemical reactions must be developed significantly. Here, we present a...

    journal_title:Nature communications

    pub_type: 杂志文章

    doi:10.1038/ncomms12711

    authors: Kawai S,Haapasilta V,Lindner BD,Tahara K,Spijker P,Buitendijk JA,Pawlak R,Meier T,Tobe Y,Foster AS,Meyer E

    更新日期:2016-09-13 00:00:00

  • Model evidence for a seasonal bias in Antarctic ice cores.

    abstract::Much of the global annual mean temperature change over Quaternary glacial cycles can be attributed to slow ice sheet and greenhouse gas feedbacks, but analysis of the short-term response to orbital forcings has the potential to reveal key relationships in the climate system. In particular, obliquity and precession bot...

    journal_title:Nature communications

    pub_type: 杂志文章

    doi:10.1038/s41467-018-03800-0

    authors: Erb MP,Jackson CS,Broccoli AJ,Lea DW,Valdes PJ,Crucifix M,DiNezio PN

    更新日期:2018-04-10 00:00:00

  • Targeted production of reactive oxygen species in mitochondria to overcome cancer drug resistance.

    abstract::Multidrug resistance is a major challenge to cancer chemotherapy. The multidrug resistance phenotype is associated with the overexpression of the adenosine triphosphate (ATP)-driven transmembrane efflux pumps in cancer cells. Here, we report a lipid membrane-coated silica-carbon (LSC) hybrid nanoparticle that targets ...

    journal_title:Nature communications

    pub_type: 杂志文章

    doi:10.1038/s41467-018-02915-8

    authors: Wang H,Gao Z,Liu X,Agarwal P,Zhao S,Conroy DW,Ji G,Yu J,Jaroniec CP,Liu Z,Lu X,Li X,He X

    更新日期:2018-02-08 00:00:00

  • Single-trial dynamics of motor cortex and their applications to brain-machine interfaces.

    abstract::Increasing evidence suggests that neural population responses have their own internal drive, or dynamics, that describe how the neural population evolves through time. An important prediction of neural dynamical models is that previously observed neural activity is informative of noisy yet-to-be-observed activity on s...

    journal_title:Nature communications

    pub_type: 杂志文章

    doi:10.1038/ncomms8759

    authors: Kao JC,Nuyujukian P,Ryu SI,Churchland MM,Cunningham JP,Shenoy KV

    更新日期:2015-07-29 00:00:00

  • Phasor field diffraction based reconstruction for fast non-line-of-sight imaging systems.

    abstract::Non-line-of-sight (NLOS) imaging recovers objects using diffusely reflected indirect light using transient illumination devices in combination with a computational inverse method. While capture systems capable of collecting light from the entire NLOS relay surface can be much more light efficient than single pixel poi...

    journal_title:Nature communications

    pub_type: 杂志文章

    doi:10.1038/s41467-020-15157-4

    authors: Liu X,Bauer S,Velten A

    更新日期:2020-04-02 00:00:00

  • Synthesis of a molecularly defined single-active site heterogeneous catalyst for selective oxidation of N-heterocycles.

    abstract::Generally, a homogeneous catalyst exhibits good activity and defined active sites but it is difficult to recycle. Meanwhile, a heterogeneous catalyst can easily be reused but its active site is difficult to reveal. It is interesting to bridge the gap between homogeneous and heterogeneous catalysis via controllable con...

    journal_title:Nature communications

    pub_type: 杂志文章

    doi:10.1038/s41467-018-03834-4

    authors: Zhang Y,Pang S,Wei Z,Jiao H,Dai X,Wang H,Shi F

    更新日期:2018-04-13 00:00:00

  • High efficiency perovskite quantum dot solar cells with charge separating heterostructure.

    abstract::Metal halide perovskite semiconductors possess outstanding characteristics for optoelectronic applications including but not limited to photovoltaics. Low-dimensional and nanostructured motifs impart added functionality which can be exploited further. Moreover, wider cation composition tunability and tunable surface l...

    journal_title:Nature communications

    pub_type: 杂志文章

    doi:10.1038/s41467-019-10856-z

    authors: Zhao Q,Hazarika A,Chen X,Harvey SP,Larson BW,Teeter GR,Liu J,Song T,Xiao C,Shaw L,Zhang M,Li G,Beard MC,Luther JM

    更新日期:2019-06-28 00:00:00

  • Genomic adaptations of the halophilic Dead Sea filamentous fungus Eurotium rubrum.

    abstract::The Dead Sea is one of the most hypersaline habitats on Earth. The fungus Eurotium rubrum (Eurotiomycetes) is among the few species able to survive there. Here we highlight its adaptive strategies, based on genome analysis and transcriptome profiling. The 26.2 Mb genome of E. rubrum shows, for example, gains in gene f...

    journal_title:Nature communications

    pub_type: 杂志文章

    doi:10.1038/ncomms4745

    authors: Kis-Papo T,Weig AR,Riley R,Peršoh D,Salamov A,Sun H,Lipzen A,Wasser SP,Rambold G,Grigoriev IV,Nevo E

    更新日期:2014-05-09 00:00:00

  • Microtubule-dependent balanced cell contraction and luminal-matrix modification accelerate epithelial tube fusion.

    abstract::Connection of tubules into larger networks is the key process for the development of circulatory systems. In Drosophila development, tip cells of the tracheal system lead the migration of each branch and connect tubules by adhering to each other and simultaneously changing into a torus-shape. We show that as adhesion ...

    journal_title:Nature communications

    pub_type: 杂志文章

    doi:10.1038/ncomms11141

    authors: Kato K,Dong B,Wada H,Tanaka-Matakatsu M,Yagi Y,Hayashi S

    更新日期:2016-04-12 00:00:00