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  1. Article ; Online: Cancer aneuploidies are shaped primarily by effects on tumour fitness.

    Shih, Juliann / Sarmashghi, Shahab / Zhakula-Kostadinova, Nadja / Zhang, Shu / Georgis, Yohanna / Hoyt, Stephanie H / Cuoco, Michael S / Gao, Galen F / Spurr, Liam F / Berger, Ashton C / Ha, Gavin / Rendo, Veronica / Shen, Hui / Meyerson, Matthew / Cherniack, Andrew D / Taylor, Alison M / Beroukhim, Rameen

    Nature

    2023  Volume 619, Issue 7971, Page(s) 793–800

    Abstract: Aneuploidies-whole-chromosome or whole-arm imbalances-are the most prevalent alteration in cancer ... ...

    Abstract Aneuploidies-whole-chromosome or whole-arm imbalances-are the most prevalent alteration in cancer genomes
    MeSH term(s) Humans ; Aneuploidy ; Cell Transformation, Neoplastic/genetics ; DNA Copy Number Variations/genetics ; Neoplasms/genetics ; Neoplasms/pathology ; Oncogenes/genetics ; Telomere/genetics ; Centromere/genetics ; Cell Lineage ; Chromosomes, Human, Pair 8/genetics ; Genes, Tumor Suppressor
    Chemical Substances WRN protein, human (EC 3.6.4.12)
    Language English
    Publishing date 2023-06-28
    Publishing country England
    Document type Journal Article
    ZDB-ID 120714-3
    ISSN 1476-4687 ; 0028-0836
    ISSN (online) 1476-4687
    ISSN 0028-0836
    DOI 10.1038/s41586-023-06266-3
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article ; Online: Multimodal single-cell and whole-genome sequencing of small, frozen clinical specimens.

    Wang, Yiping / Fan, Joy Linyue / Melms, Johannes C / Amin, Amit Dipak / Georgis, Yohanna / Barrera, Irving / Ho, Patricia / Tagore, Somnath / Abril-Rodríguez, Gabriel / He, Siyu / Jin, Yinuo / Biermann, Jana / Hofree, Matan / Caprio, Lindsay / Berhe, Simon / Khan, Shaheer A / Henick, Brian S / Ribas, Antoni / Macosko, Evan Z /
    Chen, Fei / Taylor, Alison M / Schwartz, Gary K / Carvajal, Richard D / Azizi, Elham / Izar, Benjamin

    Nature genetics

    2023  Volume 55, Issue 1, Page(s) 19–25

    Abstract: Single-cell genomics enables dissection of tumor heterogeneity and molecular underpinnings of drug response at an unprecedented ... ...

    Abstract Single-cell genomics enables dissection of tumor heterogeneity and molecular underpinnings of drug response at an unprecedented resolution
    MeSH term(s) Humans ; Genomics/methods ; Gene Expression Profiling/methods ; Neoplasms/genetics ; Sequence Analysis, RNA/methods ; Whole Genome Sequencing
    Language English
    Publishing date 2023-01-09
    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 1108734-1
    ISSN 1546-1718 ; 1061-4036
    ISSN (online) 1546-1718
    ISSN 1061-4036
    DOI 10.1038/s41588-022-01268-9
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  3. Article ; Online: PPM1D mutations are oncogenic drivers of de novo diffuse midline glioma formation.

    Khadka, Prasidda / Reitman, Zachary J / Lu, Sophie / Buchan, Graham / Gionet, Gabrielle / Dubois, Frank / Carvalho, Diana M / Shih, Juliann / Zhang, Shu / Greenwald, Noah F / Zack, Travis / Shapira, Ofer / Pelton, Kristine / Hartley, Rachel / Bear, Heather / Georgis, Yohanna / Jarmale, Spandana / Melanson, Randy / Bonanno, Kevin /
    Schoolcraft, Kathleen / Miller, Peter G / Condurat, Alexandra L / Gonzalez, Elizabeth M / Qian, Kenin / Morin, Eric / Langhnoja, Jaldeep / Lupien, Leslie E / Rendo, Veronica / Digiacomo, Jeromy / Wang, Dayle / Zhou, Kevin / Kumbhani, Rushil / Guerra Garcia, Maria E / Sinai, Claire E / Becker, Sarah / Schneider, Rachel / Vogelzang, Jayne / Krug, Karsten / Goodale, Amy / Abid, Tanaz / Kalani, Zohra / Piccioni, Federica / Beroukhim, Rameen / Persky, Nicole S / Root, David E / Carcaboso, Angel M / Ebert, Benjamin L / Fuller, Christine / Babur, Ozgun / Kieran, Mark W / Jones, Chris / Keshishian, Hasmik / Ligon, Keith L / Carr, Steven A / Phoenix, Timothy N / Bandopadhayay, Pratiti

    Nature communications

    2022  Volume 13, Issue 1, Page(s) 604

    Abstract: The role of PPM1D mutations in de novo gliomagenesis has not been systematically explored. Here we analyze whole genome sequences of 170 pediatric high-grade gliomas and find that truncating mutations in PPM1D that increase the stability of its ... ...

    Abstract The role of PPM1D mutations in de novo gliomagenesis has not been systematically explored. Here we analyze whole genome sequences of 170 pediatric high-grade gliomas and find that truncating mutations in PPM1D that increase the stability of its phosphatase are clonal driver events in 11% of Diffuse Midline Gliomas (DMGs) and are enriched in primary pontine tumors. Through the development of DMG mouse models, we show that PPM1D mutations potentiate gliomagenesis and that PPM1D phosphatase activity is required for in vivo oncogenesis. Finally, we apply integrative phosphoproteomic and functional genomics assays and find that oncogenic effects of PPM1D truncation converge on regulators of cell cycle, DNA damage response, and p53 pathways, revealing therapeutic vulnerabilities including MDM2 inhibition.
    MeSH term(s) Adolescent ; Adult ; Animals ; Brain Stem Neoplasms/genetics ; Carcinogenesis/genetics ; Cell Cycle ; Child ; Child, Preschool ; DNA Damage ; Disease Models, Animal ; Female ; Glioma/genetics ; HEK293 Cells ; Humans ; Infant ; Male ; Mice ; Mutation ; Oncogenes/genetics ; Protein Phosphatase 2C/genetics ; Proto-Oncogene Proteins c-mdm2 ; Transcriptome ; Tumor Suppressor Protein p53/genetics ; Young Adult
    Chemical Substances Tumor Suppressor Protein p53 ; Proto-Oncogene Proteins c-mdm2 (EC 2.3.2.27) ; PPM1D protein, human (EC 3.1.3.16) ; Protein Phosphatase 2C (EC 3.1.3.16)
    Language English
    Publishing date 2022-02-01
    Publishing country England
    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 2553671-0
    ISSN 2041-1723 ; 2041-1723
    ISSN (online) 2041-1723
    ISSN 2041-1723
    DOI 10.1038/s41467-022-28198-8
    Database MEDical Literature Analysis and Retrieval System OnLINE

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