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  1. Article ; Online: A high-throughput pipeline for DNA/RNA/small RNA purification from tissue samples for sequencing.

    Xu, Jing / Pandoh, Pawan K / Corbett, Richard D / Smailus, Duane / Bowlby, Reanne / Brooks, Denise / McDonald, Helen / Haile, Simon / Chahal, Sundeep / Bilobram, Steve / Mungall, Karen L / Mungall, Andrew J / Coope, Robin / Moore, Richard A / Zhao, Yongjun / Jones, Steven Jm / Marra, Marco A

    BioTechniques

    2023  Volume 75, Issue 2, Page(s) 47–55

    Abstract: High-throughput total nucleic acid (TNA) purification methods based on solid-phase reversible immobilization (SPRI) beads produce TNA suitable for both genomic and transcriptomic applications. Even so, small RNA species, including miRNA, bind weakly to ... ...

    Abstract High-throughput total nucleic acid (TNA) purification methods based on solid-phase reversible immobilization (SPRI) beads produce TNA suitable for both genomic and transcriptomic applications. Even so, small RNA species, including miRNA, bind weakly to SPRI beads under standard TNA purification conditions, necessitating a separate workflow using column-based methods that are difficult to automate. Here, an SPRI-based high-throughput TNA purification protocol that recovers DNA, RNA and small RNA, called GSC-modified RLT+ Aline bead-based protocol (GRAB-ALL), which incorporates modifications to enhance small RNA recovery is presented. GRAB-ALL was benchmarked against existing nucleic acid purification workflows and GRAB-ALL efficiently purifies TNA, including small RNA, for next-generation sequencing applications in a plate-based format suitable for automated high-throughput sample preparation.
    MeSH term(s) RNA/genetics ; DNA/genetics ; High-Throughput Nucleotide Sequencing/methods
    Chemical Substances RNA (63231-63-0) ; DNA (9007-49-2)
    Language English
    Publishing date 2023-08-08
    Publishing country England
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 48453-2
    ISSN 1940-9818 ; 0736-6205
    ISSN (online) 1940-9818
    ISSN 0736-6205
    DOI 10.2144/btn-2023-0011
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article ; Online: Tumor microRNA profile and prognostic value for lymph node metastasis in oral squamous cell carcinoma patients.

    Liu, Kelly Yi Ping / Zhu, Sarah Yuqi / Brooks, Denise / Bowlby, Reanne / Durham, J Scott / Ma, Yussanne / Moore, Richard A / Mungall, Andrew J / Jones, Steven / Poh, Catherine F

    Oncotarget

    2020  Volume 11, Issue 23, Page(s) 2204–2215

    Abstract: Neck lymph node metastasis (LN+) is one of the most significant prognostic factors affecting 1-in-2 patients diagnosed with oral squamous cell carcinoma (OSCC). The different LN outcomes between clinico-pathologically similar primary tumors suggest ... ...

    Abstract Neck lymph node metastasis (LN+) is one of the most significant prognostic factors affecting 1-in-2 patients diagnosed with oral squamous cell carcinoma (OSCC). The different LN outcomes between clinico-pathologically similar primary tumors suggest underlying molecular signatures that could be associated with the risk of nodal disease development. MicroRNAs (miRNAs)are short non-coding molecules that regulate the expression of their target genes to maintain the balance of cellular processes. A plethora of evidence has indicated that aberrantly expressed miRNAs are involved in cancers with either an antitumor or oncogenic role. In this study, we characterized miRNA expression among OSCC fresh-frozen tumors with known outcomes of nodal disease (82 LN+, 76 LN0). We identified 49 differentially expressed miRNAs in tumors of the LN+ group. Using penalized lasso Cox regression, we identified a group of 10 miRNAs of which expression levels were highly associated with nodal-disease free survival. We further reported a 4-miRNA panel (miR-21-5p, miR-107, miR-1247-3p, and miR-181b-3p) with high accuracy in discriminating LN status, suggesting their potential application as prognostic biomarkers for nodal disease.
    Language English
    Publishing date 2020-06-09
    Publishing country United States
    Document type Journal Article
    ZDB-ID 2560162-3
    ISSN 1949-2553 ; 1949-2553
    ISSN (online) 1949-2553
    ISSN 1949-2553
    DOI 10.18632/oncotarget.27616
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  3. Article ; Online: The Cancer Genome Atlas Comprehensive Molecular Characterization of Renal Cell Carcinoma.

    Ricketts, Christopher J / De Cubas, Aguirre A / Fan, Huihui / Smith, Christof C / Lang, Martin / Reznik, Ed / Bowlby, Reanne / Gibb, Ewan A / Akbani, Rehan / Beroukhim, Rameen / Bottaro, Donald P / Choueiri, Toni K / Gibbs, Richard A / Godwin, Andrew K / Haake, Scott / Hakimi, A Ari / Henske, Elizabeth P / Hsieh, James J / Ho, Thai H /
    Kanchi, Rupa S / Krishnan, Bhavani / Kwiatkowski, David J / Liu, Wenbin / Merino, Maria J / Mills, Gordon B / Myers, Jerome / Nickerson, Michael L / Reuter, Victor E / Schmidt, Laura S / Shelley, C Simon / Shen, Hui / Shuch, Brian / Signoretti, Sabina / Srinivasan, Ramaprasad / Tamboli, Pheroze / Thomas, George / Vincent, Benjamin G / Vocke, Cathy D / Wheeler, David A / Yang, Lixing / Kim, William Y / Robertson, A Gordon / Spellman, Paul T / Rathmell, W Kimryn / Linehan, W Marston

    Cell reports

    2024  Volume 43, Issue 4, Page(s) 113063

    Language English
    Publishing date 2024-04-04
    Publishing country United States
    Document type Published Erratum
    ZDB-ID 2649101-1
    ISSN 2211-1247 ; 2211-1247
    ISSN (online) 2211-1247
    ISSN 2211-1247
    DOI 10.1016/j.celrep.2023.113063
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  4. Article ; Online: Indoleamine 2,3-Dioxygenase 1, Increased in Human Gastric Pre-Neoplasia, Promotes Inflammation and Metaplasia in Mice and Is Associated With Type II Hypersensitivity/Autoimmunity.

    El-Zaatari, Mohamad / Bass, Adam J / Bowlby, Reanne / Zhang, Min / Syu, Li-Jyun / Yang, Yitian / Grasberger, Helmut / Shreiner, Andrew / Tan, Bei / Bishu, Shrinivas / Leung, Wai K / Todisco, Andrea / Kamada, Nobuhiko / Cascalho, Marilia / Dlugosz, Andrzej A / Kao, John Y

    Gastroenterology

    2017  Volume 154, Issue 1, Page(s) 140–153.e17

    Abstract: Background & aims: Chronic gastrointestinal inflammation increases the risk of cancer by mechanisms that are not well understood. Indoleamine-2,3-dioxygenase 1 (IDO1) is a heme-binding enzyme that regulates the immune response via catabolization and ... ...

    Abstract Background & aims: Chronic gastrointestinal inflammation increases the risk of cancer by mechanisms that are not well understood. Indoleamine-2,3-dioxygenase 1 (IDO1) is a heme-binding enzyme that regulates the immune response via catabolization and regulation of tryptophan availability for immune cell uptake. IDO1 expression is increased during the transition from chronic inflammation to gastric metaplasia. We investigated whether IDO1 contributes to the inflammatory response that mediates loss of parietal cells leading to metaplasia.
    Methods: Chronic gastric inflammation was induced in Ido1
    Results: H felis gavage induced significantly lower levels of pseudopyloric metaplasia in Ido1
    Conclusions: IDO1 mediates gastric metaplasia by regulating the B-cell compartment. This process appears to be associated with type II hypersensitivity/autoimmunity. The role of autoimmunity in the progression of pseudopyloric metaplasia warrants further investigation.
    MeSH term(s) Animals ; B-Lymphocytes/physiology ; Gastritis/enzymology ; Gastritis/etiology ; Gastritis/pathology ; Humans ; Hypersensitivity/enzymology ; Hypersensitivity/etiology ; Hypersensitivity/pathology ; Indoleamine-Pyrrole 2,3,-Dioxygenase/metabolism ; Metaplasia ; Mice ; Mice, Inbred C57BL ; Precancerous Conditions/enzymology ; Precancerous Conditions/pathology ; Stomach Neoplasms/enzymology ; Stomach Neoplasms/etiology ; Stomach Neoplasms/pathology
    Chemical Substances Indoleamine-Pyrrole 2,3,-Dioxygenase
    Language English
    Publishing date 2017-09-11
    Publishing country United States
    Document type Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
    ZDB-ID 80112-4
    ISSN 1528-0012 ; 0016-5085
    ISSN (online) 1528-0012
    ISSN 0016-5085
    DOI 10.1053/j.gastro.2017.09.002
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  5. Article ; Online: Validation and calibration of next-generation sequencing to identify Epstein-Barr virus-positive gastric cancer in The Cancer Genome Atlas.

    Camargo, M Constanza / Bowlby, Reanne / Chu, Andy / Pedamallu, Chandra Sekhar / Thorsson, Vesteinn / Elmore, Sandra / Mungall, Andrew J / Bass, Adam J / Gulley, Margaret L / Rabkin, Charles S

    Gastric cancer : official journal of the International Gastric Cancer Association and the Japanese Gastric Cancer Association

    2015  Volume 19, Issue 2, Page(s) 676–681

    Abstract: The Epstein-Barr virus (EBV)-positive subtype of gastric adenocarcinoma is conventionally identified by in situ hybridization (ISH) for viral nucleic acids, but next-generation sequencing represents a potential alternative. We therefore determined ... ...

    Abstract The Epstein-Barr virus (EBV)-positive subtype of gastric adenocarcinoma is conventionally identified by in situ hybridization (ISH) for viral nucleic acids, but next-generation sequencing represents a potential alternative. We therefore determined normalized EBV read counts by whole-genome, whole-exome, mRNA and miRNA sequencing for 295 fresh-frozen gastric tumor samples. Formalin-fixed, paraffin-embedded tissue sections were retrieved for ISH confirmation of 13 high-EBV and 11 low-EBV cases. In pairwise comparisons, individual samples were either concordantly high or concordantly low by all genomic methods for which data were available. Empiric cutoffs of sequencing counts identified 26 (9 %) tumors as EBV positive. EBV positivity or negativity by molecular testing was confirmed by EBER-ISH in all but one tumor evaluated by both approaches (kappa = 0.91). EBV-positive gastric tumors can be accurately identified by quantifying viral sequences in genomic data. Simultaneous analyses of human and viral DNA, mRNA and miRNA could streamline tumor profiling for clinical care and research.
    MeSH term(s) Calibration ; Epstein-Barr Virus Infections/complications ; Epstein-Barr Virus Infections/genetics ; Genome, Human ; Herpesvirus 4, Human/pathogenicity ; High-Throughput Nucleotide Sequencing/methods ; Humans ; MicroRNAs ; Paraffin Embedding ; Stomach Neoplasms/genetics ; Stomach Neoplasms/virology
    Chemical Substances MicroRNAs
    Language English
    Publishing date 2015-06-23
    Publishing country Japan
    Document type Journal Article ; Research Support, N.I.H., Extramural ; Research Support, N.I.H., Intramural ; Validation Studies
    ZDB-ID 1463526-4
    ISSN 1436-3305 ; 1436-3291
    ISSN (online) 1436-3305
    ISSN 1436-3291
    DOI 10.1007/s10120-015-0508-x
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  6. Article ; Online: Analysis of Ugandan cervical carcinomas identifies human papillomavirus clade-specific epigenome and transcriptome landscapes.

    Gagliardi, Alessia / Porter, Vanessa L / Zong, Zusheng / Bowlby, Reanne / Titmuss, Emma / Namirembe, Constance / Griner, Nicholas B / Petrello, Hilary / Bowen, Jay / Chan, Simon K / Culibrk, Luka / Darragh, Teresa M / Stoler, Mark H / Wright, Thomas C / Gesuwan, Patee / Dyer, Maureen A / Ma, Yussanne / Mungall, Karen L / Jones, Steven J M /
    Nakisige, Carolyn / Novik, Karen / Orem, Jackson / Origa, Martin / Gastier-Foster, Julie M / Yarchoan, Robert / Casper, Corey / Mills, Gordon B / Rader, Janet S / Ojesina, Akinyemi I / Gerhard, Daniela S / Mungall, Andrew J / Marra, Marco A

    Nature genetics

    2020  Volume 52, Issue 8, Page(s) 800–810

    Abstract: Cervical cancer is the most common cancer affecting sub-Saharan African women and is prevalent among HIV-positive ( ... ...

    Abstract Cervical cancer is the most common cancer affecting sub-Saharan African women and is prevalent among HIV-positive (HIV
    MeSH term(s) Adult ; Aged ; DNA Methylation/genetics ; Epigenome/genetics ; Female ; Humans ; Middle Aged ; Papillomaviridae/pathogenicity ; Papillomavirus Infections/genetics ; Papillomavirus Infections/virology ; Promoter Regions, Genetic/genetics ; Signal Transduction/genetics ; Transcriptome/genetics ; Uganda ; Up-Regulation/genetics ; Uterine Cervical Neoplasms/genetics ; Uterine Cervical Neoplasms/virology
    Language English
    Publishing date 2020-08-03
    Publishing country United States
    Document type Journal Article ; Research Support, N.I.H., Extramural ; Research Support, N.I.H., Intramural ; 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/s41588-020-0673-7
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  7. Article ; Online: Uncovering Clinically Relevant Gene Fusions with Integrated Genomic and Transcriptomic Profiling of Metastatic Cancers.

    Tsang, Erica S / Grisdale, Cameron J / Pleasance, Erin / Topham, James T / Mungall, Karen / Reisle, Caralyn / Choo, Caleb / Carreira, Marcus / Bowlby, Reanne / Karasinska, Joanna M / MacMillan, Daniel / Williamson, Laura M / Chuah, Eric / Moore, Richard A / Mungall, Andrew J / Zhao, Yongjun / Tessier-Cloutier, Basile / Ng, Tony / Sun, Sophie /
    Lim, Howard J / Schaeffer, David F / Renouf, Daniel J / Yip, Stephen / Laskin, Janessa / Marra, Marco A / Jones, Steven J M / Loree, Jonathan M

    Clinical cancer research : an official journal of the American Association for Cancer Research

    2020  Volume 27, Issue 2, Page(s) 522–531

    Abstract: Purpose: Gene fusions are important oncogenic drivers and many are actionable. Whole-genome and transcriptome (WGS and RNA-seq, respectively) sequencing can discover novel clinically relevant fusions.: Experimental design: Using WGS and RNA-seq, we ... ...

    Abstract Purpose: Gene fusions are important oncogenic drivers and many are actionable. Whole-genome and transcriptome (WGS and RNA-seq, respectively) sequencing can discover novel clinically relevant fusions.
    Experimental design: Using WGS and RNA-seq, we reviewed the prevalence of fusions in a cohort of 570 patients with cancer, and compared prevalence to that predicted with commercially available panels. Fusions were annotated using a consensus variant calling pipeline (MAVIS) and required that a contig of the breakpoint could be constructed and supported from ≥2 structural variant detection approaches.
    Results: In 570 patients with advanced cancer, MAVIS identified 81 recurrent fusions by WGS and 111 by RNA-seq, of which 18 fusions by WGS and 19 by RNA-seq were noted in at least 3 separate patients. The most common fusions were
    Conclusions: Utilizing WGS/RNA-seq facilitates identification of novel fusions in clinically relevant genes, and detected a greater proportion than commercially available panels are expected to find. A significant benefit of WGS and RNA-seq is the innate ability to retrospectively identify variants that becomes clinically relevant over time, without the need for additional testing, which is not possible with panel-based approaches.
    MeSH term(s) Gene Expression Profiling/methods ; Gene Fusion ; Genomics/methods ; Humans ; Neoplasm Metastasis ; Neoplasms/drug therapy ; Neoplasms/genetics ; Neoplasms/pathology ; Oncogene Proteins, Fusion/genetics ; RNA-Seq/methods ; Retrospective Studies ; Treatment Outcome ; Whole Exome Sequencing/methods
    Chemical Substances Oncogene Proteins, Fusion
    Language English
    Publishing date 2020-11-04
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 1225457-5
    ISSN 1557-3265 ; 1078-0432
    ISSN (online) 1557-3265
    ISSN 1078-0432
    DOI 10.1158/1078-0432.CCR-20-1900
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  8. Article ; Online: Cell-of-Origin Patterns Dominate the Molecular Classification of 10,000 Tumors from 33 Types of Cancer.

    Hoadley, Katherine A / Yau, Christina / Hinoue, Toshinori / Wolf, Denise M / Lazar, Alexander J / Drill, Esther / Shen, Ronglai / Taylor, Alison M / Cherniack, Andrew D / Thorsson, Vésteinn / Akbani, Rehan / Bowlby, Reanne / Wong, Christopher K / Wiznerowicz, Maciej / Sanchez-Vega, Francisco / Robertson, A Gordon / Schneider, Barbara G / Lawrence, Michael S / Noushmehr, Houtan /
    Malta, Tathiane M / Stuart, Joshua M / Benz, Christopher C / Laird, Peter W

    Cell

    2018  Volume 173, Issue 2, Page(s) 291–304.e6

    Abstract: We conducted comprehensive integrative molecular analyses of the complete set of tumors in The Cancer Genome Atlas (TCGA), consisting of approximately 10,000 specimens and representing 33 types of cancer. We performed molecular clustering using data on ... ...

    Abstract We conducted comprehensive integrative molecular analyses of the complete set of tumors in The Cancer Genome Atlas (TCGA), consisting of approximately 10,000 specimens and representing 33 types of cancer. We performed molecular clustering using data on chromosome-arm-level aneuploidy, DNA hypermethylation, mRNA, and miRNA expression levels and reverse-phase protein arrays, of which all, except for aneuploidy, revealed clustering primarily organized by histology, tissue type, or anatomic origin. The influence of cell type was evident in DNA-methylation-based clustering, even after excluding sites with known preexisting tissue-type-specific methylation. Integrative clustering further emphasized the dominant role of cell-of-origin patterns. Molecular similarities among histologically or anatomically related cancer types provide a basis for focused pan-cancer analyses, such as pan-gastrointestinal, pan-gynecological, pan-kidney, and pan-squamous cancers, and those related by stemness features, which in turn may inform strategies for future therapeutic development.
    MeSH term(s) Aneuploidy ; Chromosomes/genetics ; Cluster Analysis ; CpG Islands ; DNA Methylation ; Databases, Factual ; Humans ; MicroRNAs/metabolism ; Mutation ; Neoplasm Proteins/genetics ; Neoplasm Proteins/metabolism ; Neoplasms/genetics ; Neoplasms/pathology ; RNA, Messenger/metabolism
    Chemical Substances MicroRNAs ; Neoplasm Proteins ; RNA, Messenger
    Language English
    Publishing date 2018-04-03
    Publishing country United States
    Document type Journal Article ; Research Support, N.I.H., Extramural
    ZDB-ID 187009-9
    ISSN 1097-4172 ; 0092-8674
    ISSN (online) 1097-4172
    ISSN 0092-8674
    DOI 10.1016/j.cell.2018.03.022
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  9. Article ; Online: Identification and Analyses of Extra-Cranial and Cranial Rhabdoid Tumor Molecular Subgroups Reveal Tumors with Cytotoxic T Cell Infiltration.

    Chun, Hye-Jung E / Johann, Pascal D / Milne, Katy / Zapatka, Marc / Buellesbach, Annette / Ishaque, Naveed / Iskar, Murat / Erkek, Serap / Wei, Lisa / Tessier-Cloutier, Basile / Lever, Jake / Titmuss, Emma / Topham, James T / Bowlby, Reanne / Chuah, Eric / Mungall, Karen L / Ma, Yussanne / Mungall, Andrew J / Moore, Richard A /
    Taylor, Michael D / Gerhard, Daniela S / Jones, Steven J M / Korshunov, Andrey / Gessler, Manfred / Kerl, Kornelius / Hasselblatt, Martin / Frühwald, Michael C / Perlman, Elizabeth J / Nelson, Brad H / Pfister, Stefan M / Marra, Marco A / Kool, Marcel

    Cell reports

    2019  Volume 29, Issue 8, Page(s) 2338–2354.e7

    Abstract: Extra-cranial malignant rhabdoid tumors (MRTs) and cranial atypical teratoid RTs (ATRTs) are heterogeneous pediatric cancers driven primarily by SMARCB1 loss. To understand the genome-wide molecular relationships between MRTs and ATRTs, we analyze multi- ... ...

    Abstract Extra-cranial malignant rhabdoid tumors (MRTs) and cranial atypical teratoid RTs (ATRTs) are heterogeneous pediatric cancers driven primarily by SMARCB1 loss. To understand the genome-wide molecular relationships between MRTs and ATRTs, we analyze multi-omics data from 140 MRTs and 161 ATRTs. We detect similarities between the MYC subgroup of ATRTs (ATRT-MYC) and extra-cranial MRTs, including global DNA hypomethylation and overexpression of HOX genes and genes involved in mesenchymal development, distinguishing them from other ATRT subgroups that express neural-like features. We identify five DNA methylation subgroups associated with anatomical sites and SMARCB1 mutation patterns. Groups 1, 3, and 4 exhibit cytotoxic T cell infiltration and expression of immune checkpoint regulators, consistent with a potential role for immunotherapy in rhabdoid tumor patients.
    MeSH term(s) Child ; DNA Methylation/genetics ; DNA Methylation/physiology ; Female ; Humans ; Lymphocytes, Tumor-Infiltrating/metabolism ; Lymphocytes, Tumor-Infiltrating/pathology ; Male ; Mutation/genetics ; Rhabdoid Tumor/metabolism ; Rhabdoid Tumor/pathology ; SMARCB1 Protein/genetics ; SMARCB1 Protein/metabolism ; Skull Base Neoplasms/metabolism ; Skull Base Neoplasms/pathology ; T-Lymphocytes/metabolism ; T-Lymphocytes/pathology ; T-Lymphocytes, Cytotoxic/metabolism ; T-Lymphocytes, Cytotoxic/pathology ; Teratoma/metabolism ; Teratoma/pathology
    Chemical Substances SMARCB1 Protein ; SMARCB1 protein, human
    Language English
    Publishing date 2019-11-07
    Publishing country United States
    Document type Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
    ZDB-ID 2649101-1
    ISSN 2211-1247 ; 2211-1247
    ISSN (online) 2211-1247
    ISSN 2211-1247
    DOI 10.1016/j.celrep.2019.10.013
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  10. Article ; Online: Integrated Molecular Characterization of Uterine Carcinosarcoma.

    Cherniack, Andrew D / Shen, Hui / Walter, Vonn / Stewart, Chip / Murray, Bradley A / Bowlby, Reanne / Hu, Xin / Ling, Shiyun / Soslow, Robert A / Broaddus, Russell R / Zuna, Rosemary E / Robertson, Gordon / Laird, Peter W / Kucherlapati, Raju / Mills, Gordon B / Weinstein, John N / Zhang, Jiashan / Akbani, Rehan / Levine, Douglas A

    Cancer cell

    2017  Volume 31, Issue 3, Page(s) 411–423

    Abstract: We performed genomic, epigenomic, transcriptomic, and proteomic characterizations of uterine carcinosarcomas (UCSs). Cohort samples had extensive copy-number alterations and highly recurrent somatic mutations. Frequent mutations were found in TP53, PTEN, ...

    Abstract We performed genomic, epigenomic, transcriptomic, and proteomic characterizations of uterine carcinosarcomas (UCSs). Cohort samples had extensive copy-number alterations and highly recurrent somatic mutations. Frequent mutations were found in TP53, PTEN, PIK3CA, PPP2R1A, FBXW7, and KRAS, similar to endometrioid and serous uterine carcinomas. Transcriptome sequencing identified a strong epithelial-to-mesenchymal transition (EMT) gene signature in a subset of cases that was attributable to epigenetic alterations at microRNA promoters. The range of EMT scores in UCS was the largest among all tumor types studied via The Cancer Genome Atlas. UCSs shared proteomic features with gynecologic carcinomas and sarcomas with intermediate EMT features. Multiple somatic mutations and copy-number alterations in genes that are therapeutic targets were identified.
    MeSH term(s) Carcinosarcoma/genetics ; Carcinosarcoma/pathology ; DNA Copy Number Variations ; Epithelial-Mesenchymal Transition ; Female ; Humans ; Mutation ; Uterine Neoplasms/genetics ; Uterine Neoplasms/pathology
    Language English
    Publishing date 2017-03-13
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't ; Research Support, N.I.H., Extramural
    ZDB-ID 2078448-X
    ISSN 1878-3686 ; 1535-6108
    ISSN (online) 1878-3686
    ISSN 1535-6108
    DOI 10.1016/j.ccell.2017.02.010
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