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Article ; Online: Head computed tomography in suspected physical abuse: time to rethink?

Glenn, Kathryn / Nickerson, Elizabeth / Bennett, C Verity / Naughton, Aideen / Cowley, Laura Elizabeth / Morris, Emily / Murtagh, Una / Kontos, Katina / Kemp, Alison Mary

Archives of disease in childhood

2020

Abstract: Background: National guidance recommends CT-head for all children <1 year old with suspected physical abuse, and to be considered for those <2 years old to exclude abusive head trauma.: Objectives: To investigate whether this guidance is followed, ... ...

Abstract	Background: National guidance recommends CT-head for all children <1 year old with suspected physical abuse, and to be considered for those <2 years old to exclude abusive head trauma. Objectives: To investigate whether this guidance is followed, and the associations between clinical presentation and CT findings, to determine whether guidance could be refined. Materials and methods: A retrospective case note review of all children <2 years old who underwent medical assessment for suspected abuse (2009-2017). Outcome measures were frequency of CT-head, and diagnostic yield of intracranial injury, skull fracture or both. Results: CT-head was undertaken in 60.3% (152/252) of children <12 months old and 7.8% (13/167) of those aged 12-24 months. The diagnostic yield in children who had a CT-head was 27.1% in children <6 months old, 14.3% in those 6-12 months old (p=0.07) and 42.6% (6/13) in those 12-24 months old. For those with head swelling or neurological impairment, it was 84.2% (32/38). In children <12 months old without these clinical features, the estimated prevalence of occult head injury was 6.1% (7/115). The strongest predictors of an abnormal CT-head were swelling to the head (OR 46.7), neurological impairment (OR 20.6) and a low haemoglobin (OR 11.8). Conclusion: All children <2 years of age with suspected physical abuse and neurological impairment or head swelling should undergo CT-head. Where the technical skills and the requisite expertise to interpret MRI exist, an MRI scan may be the optimal first-line neuroimaging investigation in infants who are neurologically stable with injuries unrelated to the head to minimise cranial radiation exposure.
Language	English
Publishing date	2020-10-29
Publishing country	England
Document type	Journal Article
ZDB-ID	524-1
ISSN	1468-2044 ; 0003-9888 ; 1359-2998
ISSN (online)	1468-2044
ISSN	0003-9888 ; 1359-2998
DOI	10.1136/archdischild-2020-320192
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Article ; Online: Systematic genomic and translational efficiency studies of uveal melanoma.

PloS one

2017 Volume 12, Issue 6, Page(s) e0178189

Abstract: To further our understanding of the somatic genetic basis of uveal melanoma, we sequenced the protein-coding regions of 52 primary tumors and 3 liver metastases together with paired normal DNA. Known recurrent mutations were identified in GNAQ, GNA11, ... ...

Abstract	To further our understanding of the somatic genetic basis of uveal melanoma, we sequenced the protein-coding regions of 52 primary tumors and 3 liver metastases together with paired normal DNA. Known recurrent mutations were identified in GNAQ, GNA11, BAP1, EIF1AX, and SF3B1. The role of mutated EIF1AX was tested using loss of function approaches including viability and translational efficiency assays. Knockdown of both wild type and mutant EIF1AX was lethal to uveal melanoma cells. We probed the function of N-terminal tail EIF1AX mutations by performing RNA sequencing of polysome-associated transcripts in cells expressing endogenous wild type or mutant EIF1AX. Ribosome occupancy of the global translational apparatus was sensitive to suppression of wild type but not mutant EIF1AX. Together, these studies suggest that cells expressing mutant EIF1AX may exhibit aberrant translational regulation, which may provide clonal selective advantage in the subset of uveal melanoma that harbors this mutation.
MeSH term(s)	Adult ; Aged ; Aged, 80 and over ; Eukaryotic Initiation Factor-1/genetics ; Female ; Genome, Human ; Humans ; Male ; Melanoma/genetics ; Melanoma/pathology ; Middle Aged ; Mutation ; Protein Biosynthesis/genetics ; Uveal Neoplasms/genetics ; Uveal Neoplasms/pathology ; Young Adult
Chemical Substances	Eukaryotic Initiation Factor-1 ; eukaryotic peptide initiation factor-1A
Language	English
Publishing date	2017-06-08
Publishing country	United States
Document type	Journal Article
ISSN	1932-6203
ISSN (online)	1932-6203
DOI	10.1371/journal.pone.0178189
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Article ; Online: Whole exome sequencing identifies a splicing mutation in NSUN2 as a cause of a Dubowitz-like syndrome.

Martinez, Fernando Jose / Lee, Jeong Ho / Lee, Ji Eun / Blanco, Sandra / Nickerson, Elizabeth / Gabriel, Stacey / Frye, Michaela / Al-Gazali, Lihadh / Gleeson, Joseph G

Journal of medical genetics

2012 Volume 49, Issue 6, Page(s) 380–385

Abstract: Background: Dubowitz syndrome (DS) is an autosomal recessive disorder characterized by the constellation of mild microcephaly, growth and mental retardation, eczema and peculiar facies. Over 140 cases have been reported, but the genetic basis is not ... ...

Abstract	Background: Dubowitz syndrome (DS) is an autosomal recessive disorder characterized by the constellation of mild microcephaly, growth and mental retardation, eczema and peculiar facies. Over 140 cases have been reported, but the genetic basis is not understood. Methods: We enrolled a multiplex consanguineous family from the United Arab Emirates with many of the key clinical features of DS as reported in previous series. The family was analyzed by whole exome sequencing. RNA splicing was evaluated with reverse-transcriptase PCR, immunostaining and western blotting was performed with specific antibodies, and site-specific cytosine-5-methylation was studied with bisulfite sequencing. Results: We identified a homozygous splice mutation in the NSUN2 gene, encoding a conserved RNA methyltransferase. The mutation abolished the canonical splice acceptor site of exon 6, leading to use of a cryptic splice donor within an AluY and subsequent mRNA instability. Patient cells lacked NSUN2 protein and there was resultant loss of site-specific 5-cytosine methylation of the tRNA(Asp GTC) at C47 and C48, known NSUN2 targets. Conclusion: Our findings establish NSUN2 as the first causal gene with relationship to the DS spectrum phenotype. NSUN2 has been implicated in Myc-induced cell proliferation and mitotic spindle stability, which might help explain the varied clinical presentation in DS that can include chromosomal instability and immunological defects.
MeSH term(s)	Animals ; Eczema/genetics ; Exome ; Facies ; Female ; Growth Disorders/genetics ; Humans ; Intellectual Disability/genetics ; Male ; Methyltransferases/genetics ; Microcephaly/genetics ; Mutation ; Pedigree ; RNA Splicing ; Sequence Analysis, DNA ; United Arab Emirates
Chemical Substances	Methyltransferases (EC 2.1.1.-) ; NSUN2 protein, human (EC 2.1.1.-)
Language	English
Publishing date	2012-05-10
Publishing country	England
Document type	Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
ZDB-ID	220881-7
ISSN	1468-6244 ; 0022-2593
ISSN (online)	1468-6244
ISSN	0022-2593
DOI	10.1136/jmedgenet-2011-100686
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Article ; Online: Whole-exome sequencing identifies mutated c12orf57 in recessive corpus callosum hypoplasia.

American journal of human genetics

2013 Volume 92, Issue 3, Page(s) 392–400

Abstract: The corpus callosum is the principal cerebral commissure connecting the right and left hemispheres. The development of the corpus callosum is under tight genetic control, as demonstrated by abnormalities in its development in more than 1,000 genetic ... ...

Abstract	The corpus callosum is the principal cerebral commissure connecting the right and left hemispheres. The development of the corpus callosum is under tight genetic control, as demonstrated by abnormalities in its development in more than 1,000 genetic syndromes. We recruited more than 25 families in which members affected with corpus callosum hypoplasia (CCH) lacked syndromic features and had consanguineous parents, suggesting recessive causes. Exome sequence analysis identified C12orf57 mutations at the initiator methionine codon in four different families. C12orf57 is ubiquitously expressed and encodes a poorly annotated 126 amino acid protein of unknown function. This protein is without significant paralogs but has been tightly conserved across evolution. Our data suggest that this conserved gene is required for development of the human corpus callosum.
MeSH term(s)	Agenesis of Corpus Callosum/genetics ; Amino Acid Sequence ; Cerebral Cortex/metabolism ; Codon/genetics ; Corpus Callosum/metabolism ; Exome ; Female ; Genetic Predisposition to Disease ; Humans ; Male ; Methionine/genetics ; Molecular Sequence Data ; Mutation ; Sequence Analysis, DNA/methods
Chemical Substances	Codon ; Methionine (AE28F7PNPL)
Language	English
Publishing date	2013-02-28
Publishing country	United States
Document type	Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
ZDB-ID	219384-x
ISSN	1537-6605 ; 0002-9297
ISSN (online)	1537-6605
ISSN	0002-9297
DOI	10.1016/j.ajhg.2013.02.004
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Article ; Online: AMPD2 regulates GTP synthesis and is mutated in a potentially treatable neurodegenerative brainstem disorder.

Akizu, Naiara / Cantagrel, Vincent / Schroth, Jana / Cai, Na / Vaux, Keith / McCloskey, Douglas / Naviaux, Robert K / Van Vleet, Jeremy / Fenstermaker, Ali G / Silhavy, Jennifer L / Scheliga, Judith S / Toyama, Keiko / Morisaki, Hiroko / Sonmez, Fatma M / Celep, Figen / Oraby, Azza / Zaki, Maha S / Al-Baradie, Raidah / Faqeih, Eissa A /

Saleh, Mohammed A M / Spencer, Emily / Rosti, Rasim Ozgur / Scott, Eric / Nickerson, Elizabeth / Gabriel, Stacey / Morisaki, Takayuki / Holmes, Edward W / Gleeson, Joseph G

Cell

2013 Volume 154, Issue 3, Page(s) 505–517

Abstract: Purine biosynthesis and metabolism, conserved in all living organisms, is essential for cellular energy homeostasis and nucleic acid synthesis. The de novo synthesis of purine precursors is under tight negative feedback regulation mediated by adenosine ... ...

Abstract	Purine biosynthesis and metabolism, conserved in all living organisms, is essential for cellular energy homeostasis and nucleic acid synthesis. The de novo synthesis of purine precursors is under tight negative feedback regulation mediated by adenosine and guanine nucleotides. We describe a distinct early-onset neurodegenerative condition resulting from mutations in the adenosine monophosphate deaminase 2 gene (AMPD2). Patients have characteristic brain imaging features of pontocerebellar hypoplasia (PCH) due to loss of brainstem and cerebellar parenchyma. We found that AMPD2 plays an evolutionary conserved role in the maintenance of cellular guanine nucleotide pools by regulating the feedback inhibition of adenosine derivatives on de novo purine synthesis. AMPD2 deficiency results in defective GTP-dependent initiation of protein translation, which can be rescued by administration of purine precursors. These data suggest AMPD2-related PCH as a potentially treatable early-onset neurodegenerative disease.
MeSH term(s)	AMP Deaminase/chemistry ; AMP Deaminase/genetics ; AMP Deaminase/metabolism ; Animals ; Brain Stem/pathology ; Cerebellum/pathology ; Child ; Female ; Guanosine Triphosphate/metabolism ; Humans ; Male ; Mice ; Mice, Knockout ; Mutation ; Neural Stem Cells/metabolism ; Olivopontocerebellar Atrophies/genetics ; Olivopontocerebellar Atrophies/metabolism ; Olivopontocerebellar Atrophies/pathology ; Protein Biosynthesis ; Purines/biosynthesis ; Saccharomyces cerevisiae/enzymology ; Saccharomyces cerevisiae/metabolism
Chemical Substances	Purines ; Guanosine Triphosphate (86-01-1) ; AMP Deaminase (EC 3.5.4.6) ; AMPD2 protein, human (EC 3.5.4.6)
Language	English
Publishing date	2013-08-01
Publishing country	United States
Document type	Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
ZDB-ID	187009-9
ISSN	1097-4172 ; 0092-8674
ISSN (online)	1097-4172
ISSN	0092-8674
DOI	10.1016/j.cell.2013.07.005
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Zs.A 1167: Show issues			Location: Je nach Verfügbarkeit (siehe Angabe bei Bestand) bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular Jg. 1995 - 2021: Lesesall (1.OG) ab Jg. 2022: Lesesaal (EG)
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Article ; Online: Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders.

Travaglini, Lorena / Brancati, Francesco / Silhavy, Jennifer / Iannicelli, Miriam / Nickerson, Elizabeth / Elkhartoufi, Nadia / Scott, Eric / Spencer, Emily / Gabriel, Stacey / Thomas, Sophie / Ben-Zeev, Bruria / Bertini, Enrico / Boltshauser, Eugen / Chaouch, Malika / Cilio, Maria Roberta / de Jong, Mirjam M / Kayserili, Hulya / Ogur, Gonul / Poretti, Andrea /

Signorini, Sabrina / Uziel, Graziella / Zaki, Maha S / Johnson, Colin / Attié-Bitach, Tania / Gleeson, Joseph G / Valente, Enza Maria

European journal of human genetics : EJHG

2013 Volume 21, Issue 10, Page(s) 1074–1078

Abstract: Joubert syndrome and related disorders (JSRD) are clinically and genetically heterogeneous ciliopathies sharing a peculiar midbrain-hindbrain malformation known as the 'molar tooth sign'. To date, 19 causative genes have been identified, all coding for ... ...

Abstract	Joubert syndrome and related disorders (JSRD) are clinically and genetically heterogeneous ciliopathies sharing a peculiar midbrain-hindbrain malformation known as the 'molar tooth sign'. To date, 19 causative genes have been identified, all coding for proteins of the primary cilium. There is clinical and genetic overlap with other ciliopathies, in particular with Meckel syndrome (MKS), that is allelic to JSRD at nine distinct loci. We previously identified the INPP5E gene as causative of JSRD in seven families linked to the JBTS1 locus, yet the phenotypic spectrum and prevalence of INPP5E mutations in JSRD and MKS remain largely unknown. To address this issue, we performed INPP5E mutation analysis in 483 probands, including 408 JSRD patients representative of all clinical subgroups and 75 MKS fetuses. We identified 12 different mutations in 17 probands from 11 JSRD families, with an overall 2.7% mutation frequency among JSRD. The most common clinical presentation among mutated families (7/11, 64%) was Joubert syndrome with ocular involvement (either progressive retinopathy and/or colobomas), while the remaining cases had pure JS. Kidney, liver and skeletal involvement were not observed. None of the MKS fetuses carried INPP5E mutations, indicating that the two ciliopathies are not allelic at this locus.
MeSH term(s)	Abnormalities, Multiple ; Adolescent ; Amino Acid Sequence ; Cerebellar Diseases/diagnosis ; Cerebellar Diseases/genetics ; Cerebellum/abnormalities ; Child ; Child, Preschool ; Ciliary Motility Disorders/diagnosis ; Ciliary Motility Disorders/genetics ; Encephalocele/diagnosis ; Encephalocele/genetics ; Eye Abnormalities/diagnosis ; Eye Abnormalities/genetics ; Female ; Gene Frequency ; Heterozygote ; Humans ; Infant ; Kidney Diseases, Cystic/diagnosis ; Kidney Diseases, Cystic/genetics ; Male ; Molecular Sequence Data ; Mutation ; Pedigree ; Phenotype ; Phosphoric Monoester Hydrolases/genetics ; Polycystic Kidney Diseases/diagnosis ; Polycystic Kidney Diseases/genetics ; Prenatal Diagnosis ; Prevalence ; Retina/abnormalities ; Retinitis Pigmentosa
Chemical Substances	Phosphoric Monoester Hydrolases (EC 3.1.3.2) ; phosphoinositide 5-phosphatase (EC 3.1.3.36)
Language	English
Publishing date	2013-02-06
Publishing country	England
Document type	Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
ZDB-ID	1141470-4
ISSN	1476-5438 ; 1018-4813
ISSN (online)	1476-5438
ISSN	1018-4813
DOI	10.1038/ejhg.2012.305
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Zs.A 3589: Show issues

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Article: The generic genome browser: a building block for a model organism system database.

Stein, Lincoln D / Mungall, Christopher / Shu, ShengQiang / Caudy, Michael / Mangone, Marco / Day, Allen / Nickerson, Elizabeth / Stajich, Jason E / Harris, Todd W / Arva, Adrian / Lewis, Suzanna

Genome research

2002 Volume 12, Issue 10, Page(s) 1599–1610

Abstract: The Generic Model Organism System Database Project (GMOD) seeks to develop reusable software components for model organism system databases. In this paper we describe the Generic Genome Browser (GBrowse), a Web-based application for displaying genomic ... ...

Abstract	The Generic Model Organism System Database Project (GMOD) seeks to develop reusable software components for model organism system databases. In this paper we describe the Generic Genome Browser (GBrowse), a Web-based application for displaying genomic annotations and other features. For the end user, features of the browser include the ability to scroll and zoom through arbitrary regions of a genome, to enter a region of the genome by searching for a landmark or performing a full text search of all features, and the ability to enable and disable tracks and change their relative order and appearance. The user can upload private annotations to view them in the context of the public ones, and publish those annotations to the community. For the data provider, features of the browser software include reliance on readily available open source components, simple installation, flexible configuration, and easy integration with other components of a model organism system Web site. GBrowse is freely available under an open source license. The software, its documentation, and support are available at http://www.gmod.org.
MeSH term(s)	Animals ; Computer Graphics ; Database Management Systems/trends ; Databases, Genetic ; Diptera/genetics ; Drosophila Proteins/genetics ; Drosophila melanogaster/genetics ; Genome ; Transcription Factors/genetics
Chemical Substances	Drosophila Proteins ; Transcription Factors
Language	English
Publishing date	2002-09-26
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't ; Research Support, U.S. Gov't, P.H.S.
ZDB-ID	1284872-4
ISSN	1549-5469 ; 1088-9051 ; 1054-9803
ISSN (online)	1549-5469
ISSN	1088-9051 ; 1054-9803
DOI	10.1101/gr.403602
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Zs.A 3729: Show issues			Location: Je nach Verfügbarkeit (siehe Angabe bei Bestand) bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular Jg. 1995 - 2021: Lesesall (2.OG) ab Jg. 2022: Lesesaal (EG)
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Article ; Online: Punctuated evolution of prostate cancer genomes.

Baca, Sylvan C / Prandi, Davide / Lawrence, Michael S / Mosquera, Juan Miguel / Romanel, Alessandro / Drier, Yotam / Park, Kyung / Kitabayashi, Naoki / MacDonald, Theresa Y / Ghandi, Mahmoud / Van Allen, Eliezer / Kryukov, Gregory V / Sboner, Andrea / Theurillat, Jean-Philippe / Soong, T David / Nickerson, Elizabeth / Auclair, Daniel / Tewari, Ashutosh / Beltran, Himisha /

Cell

2013 Volume 153, Issue 3, Page(s) 666–677

Abstract: The analysis of exonic DNA from prostate cancers has identified recurrently mutated genes, but the spectrum of genome-wide alterations has not been profiled extensively in this disease. We sequenced the genomes of 57 prostate tumors and matched normal ... ...

Abstract	The analysis of exonic DNA from prostate cancers has identified recurrently mutated genes, but the spectrum of genome-wide alterations has not been profiled extensively in this disease. We sequenced the genomes of 57 prostate tumors and matched normal tissues to characterize somatic alterations and to study how they accumulate during oncogenesis and progression. By modeling the genesis of genomic rearrangements, we identified abundant DNA translocations and deletions that arise in a highly interdependent manner. This phenomenon, which we term "chromoplexy," frequently accounts for the dysregulation of prostate cancer genes and appears to disrupt multiple cancer genes coordinately. Our modeling suggests that chromoplexy may induce considerable genomic derangement over relatively few events in prostate cancer and other neoplasms, supporting a model of punctuated cancer evolution. By characterizing the clonal hierarchy of genomic lesions in prostate tumors, we charted a path of oncogenic events along which chromoplexy may drive prostate carcinogenesis.
MeSH term(s)	Adenocarcinoma/genetics ; Adenocarcinoma/pathology ; Chromosome Aberrations ; Cohort Studies ; Gene Expression Regulation, Neoplastic ; Genome, Human ; Genome-Wide Association Study ; Humans ; Male ; Neuroendocrine Tumors/genetics ; Neuroendocrine Tumors/pathology ; Prostatic Neoplasms/genetics ; Prostatic Neoplasms/pathology
Language	English
Publishing date	2013-04-26
Publishing country	United States
Document type	Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't ; Research Support, U.S. Gov't, Non-P.H.S.
ZDB-ID	187009-9
ISSN	1097-4172 ; 0092-8674
ISSN (online)	1097-4172
ISSN	0092-8674
DOI	10.1016/j.cell.2013.03.021
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Zs.A 1167: Show issues			Location: Je nach Verfügbarkeit (siehe Angabe bei Bestand) bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular Jg. 1995 - 2021: Lesesall (1.OG) ab Jg. 2022: Lesesaal (EG)
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Article ; Online: Somatic mutation of CDKN1B in small intestine neuroendocrine tumors.

Francis, Joshua M / Kiezun, Adam / Ramos, Alex H / Serra, Stefano / Pedamallu, Chandra Sekhar / Qian, Zhi Rong / Banck, Michaela S / Kanwar, Rahul / Kulkarni, Amit A / Karpathakis, Anna / Manzo, Veronica / Contractor, Tanupriya / Philips, Juliet / Nickerson, Elizabeth / Pho, Nam / Hooshmand, Susanne M / Brais, Lauren K / Lawrence, Michael S / Pugh, Trevor /

McKenna, Aaron / Sivachenko, Andrey / Cibulskis, Kristian / Carter, Scott L / Ojesina, Akinyemi I / Freeman, Samuel / Jones, Robert T / Voet, Douglas / Saksena, Gordon / Auclair, Daniel / Onofrio, Robert / Shefler, Erica / Sougnez, Carrie / Grimsby, Jonna / Green, Lisa / Lennon, Niall / Meyer, Tim / Caplin, Martyn / Chung, Daniel C / Beutler, Andreas S / Ogino, Shuji / Thirlwell, Christina / Shivdasani, Ramesh / Asa, Sylvia L / Harris, Chris R / Getz, Gad / Kulke, Matthew / Meyerson, Matthew

Nature genetics

2013 Volume 45, Issue 12, Page(s) 1483–1486

Abstract: The diagnosed incidence of small intestine neuroendocrine tumors (SI-NETs) is increasing, and the underlying genomic mechanisms have not yet been defined. Using exome- and genome-sequence analysis of SI-NETs, we identified recurrent somatic mutations and ...

Abstract	The diagnosed incidence of small intestine neuroendocrine tumors (SI-NETs) is increasing, and the underlying genomic mechanisms have not yet been defined. Using exome- and genome-sequence analysis of SI-NETs, we identified recurrent somatic mutations and deletions in CDKN1B, the cyclin-dependent kinase inhibitor gene, which encodes p27. We observed frameshift mutations of CDKN1B in 14 of 180 SI-NETs, and we detected hemizygous deletions encompassing CDKN1B in 7 out of 50 SI-NETs, nominating p27 as a tumor suppressor and implicating cell cycle dysregulation in the etiology of SI-NETs.
MeSH term(s)	Cell Cycle/genetics ; Cohort Studies ; Cyclin-Dependent Kinase Inhibitor p27/genetics ; Genes, Tumor Suppressor ; Genetic Predisposition to Disease ; Humans ; Intestinal Neoplasms/epidemiology ; Intestinal Neoplasms/genetics ; Intestinal Neoplasms/pathology ; Intestine, Small/pathology ; Mutation ; Neuroendocrine Tumors/epidemiology ; Neuroendocrine Tumors/genetics ; Neuroendocrine Tumors/pathology ; Sequence Analysis, DNA
Chemical Substances	CDKN1B protein, human ; Cyclin-Dependent Kinase Inhibitor p27 (147604-94-2)
Language	English
Publishing date	2013-11-03
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	1108734-1
ISSN	1546-1718 ; 1061-4036
ISSN (online)	1546-1718
ISSN	1061-4036
DOI	10.1038/ng.2821
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Zs.A 3613: Show issues			Location: Je nach Verfügbarkeit (siehe Angabe bei Bestand) bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular Jg. 1995 - 2021: Lesesall (2.OG) ab Jg. 2022: Lesesaal (EG)
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Article ; Online: A landscape of driver mutations in melanoma.

Hodis, Eran / Watson, Ian R / Kryukov, Gregory V / Arold, Stefan T / Imielinski, Marcin / Theurillat, Jean-Philippe / Nickerson, Elizabeth / Auclair, Daniel / Li, Liren / Place, Chelsea / Dicara, Daniel / Ramos, Alex H / Lawrence, Michael S / Cibulskis, Kristian / Sivachenko, Andrey / Voet, Douglas / Saksena, Gordon / Stransky, Nicolas / Onofrio, Robert C /

Cell

2012 Volume 150, Issue 2, Page(s) 251–263

Abstract: Despite recent insights into melanoma genetics, systematic surveys for driver mutations are challenged by an abundance of passenger mutations caused by carcinogenic UV light exposure. We developed a permutation-based framework to address this challenge, ... ...

Abstract	Despite recent insights into melanoma genetics, systematic surveys for driver mutations are challenged by an abundance of passenger mutations caused by carcinogenic UV light exposure. We developed a permutation-based framework to address this challenge, employing mutation data from intronic sequences to control for passenger mutational load on a per gene basis. Analysis of large-scale melanoma exome data by this approach discovered six novel melanoma genes (PPP6C, RAC1, SNX31, TACC1, STK19, and ARID2), three of which-RAC1, PPP6C, and STK19-harbored recurrent and potentially targetable mutations. Integration with chromosomal copy number data contextualized the landscape of driver mutations, providing oncogenic insights in BRAF- and NRAS-driven melanoma as well as those without known NRAS/BRAF mutations. The landscape also clarified a mutational basis for RB and p53 pathway deregulation in this malignancy. Finally, the spectrum of driver mutations provided unequivocal genomic evidence for a direct mutagenic role of UV light in melanoma pathogenesis.
MeSH term(s)	Amino Acid Sequence ; Cells, Cultured ; Exome ; Genome-Wide Association Study ; Humans ; Melanocytes/metabolism ; Melanoma/genetics ; Models, Molecular ; Molecular Sequence Data ; Mutagenesis ; Proto-Oncogene Proteins B-raf/genetics ; Sequence Alignment ; Ultraviolet Rays ; rac1 GTP-Binding Protein/genetics
Chemical Substances	RAC1 protein, human ; BRAF protein, human (EC 2.7.11.1) ; Proto-Oncogene Proteins B-raf (EC 2.7.11.1) ; rac1 GTP-Binding Protein (EC 3.6.5.2)
Language	English
Publishing date	2012-07-20
Publishing country	United States
Document type	Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
ZDB-ID	187009-9
ISSN	1097-4172 ; 0092-8674
ISSN (online)	1097-4172
ISSN	0092-8674
DOI	10.1016/j.cell.2012.06.024
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Zs.A 1167: Show issues			Location: Je nach Verfügbarkeit (siehe Angabe bei Bestand) bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular Jg. 1995 - 2021: Lesesall (1.OG) ab Jg. 2022: Lesesaal (EG)
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