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  1. Article ; Online: A unique subset of low-risk Wilms tumors is characterized by loss of function of TRIM28 (KAP1), a gene critical in early renal development: A Children's Oncology Group study.

    Armstrong, Amy E / Gadd, Samantha / Huff, Vicki / Gerhard, Daniela S / Dome, Jeffrey S / Perlman, Elizabeth J

    PloS one

    2018  Volume 13, Issue 12, Page(s) e0208936

    Abstract: This study explores the genomic alterations that contribute to the formation of a unique subset of low-risk, epithelial differentiated, favorable histology Wilms tumors (WT), tumors that have been characterized by their expression of post-induction renal ...

    Abstract This study explores the genomic alterations that contribute to the formation of a unique subset of low-risk, epithelial differentiated, favorable histology Wilms tumors (WT), tumors that have been characterized by their expression of post-induction renal developmental genes (Subset 1 WT). We demonstrate copy neutral loss of heterozygosity involving 19q13.32-q13.43, unaccompanied by evidence for imprinting by DNA methylation. We further identified loss-of-function somatic mutations in TRIM28 (also known as KAP1), located at 19q13, in 8/9 Subset 1 tumors analyzed. An additional germline TRIM28 mutation was identified in one patient. Retrospective evaluation of previously analyzed WT outside of Subset 1 identified an additional tumor with anaplasia and both TRIM28 and TP53 mutations. A major function of TRIM28 is the repression of endogenous retroviruses early in development. We depleted TRIM28 in HEK293 cells, which resulted in increased expression of endogenous retroviruses, a finding also demonstrated in TRIM28-mutant WT. TRIM28 has been shown by others to be active during early renal development, and to interact with WTX, another gene recurrently mutated in WT. Our findings suggest that inactivation of TRIM28 early in renal development contributes to the formation of this unique subset of FHWTs, although the precise manner in which TRIM28 impacts both normal renal development and oncogenesis remains elusive.
    MeSH term(s) Anaplasia/genetics ; Anaplasia/pathology ; Carcinogenesis/genetics ; DNA Methylation/genetics ; Female ; Germ-Line Mutation/genetics ; HEK293 Cells ; Humans ; Infant ; Infant, Newborn ; Kidney/growth & development ; Kidney/metabolism ; Kidney/pathology ; Kidney Neoplasms/genetics ; Kidney Neoplasms/pathology ; Loss of Function Mutation/genetics ; Male ; Risk Factors ; Tripartite Motif-Containing Protein 28/genetics ; Wilms Tumor/genetics ; Wilms Tumor/pathology
    Chemical Substances TRIM28 protein, human (EC 2.3.2.27) ; Tripartite Motif-Containing Protein 28 (EC 2.3.2.27)
    Language English
    Publishing date 2018-12-13
    Publishing country United States
    Document type Journal Article ; Research Support, N.I.H., Extramural
    ISSN 1932-6203
    ISSN (online) 1932-6203
    DOI 10.1371/journal.pone.0208936
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article: Germline pathogenic variants in 786 neuroblastoma patients.

    Kim, Jung / Vaksman, Zalman / Egolf, Laura E / Kaufman, Rebecca / Evans, J Perry / Conkrite, Karina L / Danesh, Arnavaz / Lopez, Gonzalo / Randall, Michael P / Dent, Maiah H / Farra, Lance M / Menghani, Neil / Dymek, Malwina / Desai, Heena / Hausler, Ryan / Auvil, Jaime Guidry / Gerhard, Daniela S / Hakonarson, Hakon / Maxwell, Kara N /
    Cole, Kristina A / Pugh, Trevor J / Bosse, Kristopher R / Khan, Javed / Wei, Jun S / Maris, John M / Stewart, Douglas R / Diskin, Sharon J

    medRxiv : the preprint server for health sciences

    2023  

    Abstract: Importance: Neuroblastoma accounts for 12% of childhood cancer deaths. The genetic contribution of rare pathogenic germline variation in patients without a family history remains unclear.: Objective: To define the prevalence, spectrum, and clinical ... ...

    Abstract Importance: Neuroblastoma accounts for 12% of childhood cancer deaths. The genetic contribution of rare pathogenic germline variation in patients without a family history remains unclear.
    Objective: To define the prevalence, spectrum, and clinical significance of pathogenic germline variation in cancer predisposition genes (CPGs) in neuroblastoma patients.
    Design setting and participants: Germline DNA sequencing was performed on the peripheral blood from 786 neuroblastoma patients unselected for family history. Rare variants mapping to CPGs were evaluated for pathogenicity and the percentage of cases harboring pathogenic (P) or likely pathogenic (LP) variants was quantified. The frequency of CPG P-LP variants in neuroblastoma cases was compared to two distinct cancer-free control cohorts to assess enrichment. Matched tumor DNA sequencing was evaluated for "second hits" at CPGs and germline DNA array data from 5,585 neuroblastoma cases and 23,505 cancer-free control children was analyzed to identify rare germline copy number variants (CNVs) affecting genes with an excess burden of P-LP variants in neuroblastoma. Neuroblastoma patients with germline P-LP variants were compared to those without P-LP variants to test for association with clinical characteristics, tumor features, and patient survival.
    Main outcomes and measures: Rare variant prevalence, pathogenicity, enrichment, and association with clinical characteristics, tumor features, and patient survival.
    Results: We observed 116 P-LP variants in CPGs involving 13.9% (109/786) of patients, representing a significant excess burden of P-LP variants compared to controls (9.1%; P = 5.14 × 10
    Conclusions and relevance: Neuroblastoma patients harboring germline P-LP variants in CPGs have worse overall survival and
    Language English
    Publishing date 2023-01-25
    Publishing country United States
    Document type Preprint
    DOI 10.1101/2023.01.23.23284864
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  3. Article ; Online: Germline pathogenic variants in neuroblastoma patients are enriched in BARD1 and predict worse survival.

    Kim, Jung / Vaksman, Zalman / Egolf, Laura E / Kaufman, Rebecca / Evans, J Perry / Conkrite, Karina L / Danesh, Arnavaz / Lopez, Gonzalo / Randall, Michael P / Dent, Maiah H / Farra, Lance M / Menghani, Neil L / Dymek, Malwina / Desai, Heena / Hausler, Ryan / Hicks, Belynda / Auvil, Jaime Guidry / Gerhard, Daniela S / Hakonarson, Hakon /
    Maxwell, Kara N / Cole, Kristina A / Pugh, Trevor J / Bosse, Kristopher R / Khan, Javed / Wei, Jun S / Maris, John M / Stewart, Douglas R / Diskin, Sharon J

    Journal of the National Cancer Institute

    2023  Volume 116, Issue 1, Page(s) 149–159

    Abstract: Background: Neuroblastoma is an embryonal cancer of the developing sympathetic nervous system. The genetic contribution of rare pathogenic or likely pathogenic germline variants in patients without a family history remains unclear.: Methods: Germline ...

    Abstract Background: Neuroblastoma is an embryonal cancer of the developing sympathetic nervous system. The genetic contribution of rare pathogenic or likely pathogenic germline variants in patients without a family history remains unclear.
    Methods: Germline DNA sequencing was performed on 786 neuroblastoma patients. The frequency of rare cancer predisposition gene pathogenic or likely pathogenic variants in patients was compared with 2 cancer-free control cohorts. Matched tumor DNA sequencing was evaluated for second hits, and germline DNA array data from 5585 neuroblastoma patients and 23 505 cancer-free control children were analyzed to identify rare germline copy number variants. Patients with germline pathogenic or likely pathogenic variants were compared with those without to test for association with clinical characteristics, tumor features, and survival.
    Results: We observed 116 pathogenic or likely pathogenic variants involving 13.9% (109 of 786) of neuroblastoma patients, representing a statistically significant excess burden compared with cancer-free participants (odds ratio [OR] = 1.60, 95% confidence interval [CI] = 1.27 to 2.00). BARD1 harbored the most statistically significant enrichment of pathogenic or likely pathogenic variants (OR = 32.30, 95% CI = 6.44 to 310.35). Rare germline copy number variants disrupting BARD1 were identified in patients but absent in cancer-free participants (OR = 29.47, 95% CI = 1.52 to 570.70). Patients harboring a germline pathogenic or likely pathogenic variant had a worse overall survival compared with those without (P = 8.6 x 10-3).
    Conclusions: BARD1 is an important neuroblastoma predisposition gene harboring both common and rare germline pathogenic or likely pathogenic variations. The presence of any germline pathogenic or likely pathogenic variant in a cancer predisposition gene was independently predictive of worse overall survival. As centers move toward paired tumor-normal sequencing at diagnosis, efforts should be made to centralize data and provide an infrastructure to support cooperative longitudinal prospective studies of germline pathogenic variation.
    MeSH term(s) Child ; Humans ; Genetic Predisposition to Disease ; Prospective Studies ; BRCA1 Protein/genetics ; Germ-Line Mutation ; Neuroblastoma/genetics ; Tumor Suppressor Proteins/genetics ; Ubiquitin-Protein Ligases/genetics
    Chemical Substances BRCA1 Protein ; BARD1 protein, human (EC 2.3.2.27) ; Tumor Suppressor Proteins ; Ubiquitin-Protein Ligases (EC 2.3.2.27)
    Language English
    Publishing date 2023-09-11
    Publishing country United States
    Document type Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
    ZDB-ID 2992-0
    ISSN 1460-2105 ; 0027-8874 ; 0198-0157
    ISSN (online) 1460-2105
    ISSN 0027-8874 ; 0198-0157
    DOI 10.1093/jnci/djad183
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  4. Article ; Online: Somatic structural variation targets neurodevelopmental genes and identifies

    Lopez, Gonzalo / Conkrite, Karina L / Doepner, Miriam / Rathi, Komal S / Modi, Apexa / Vaksman, Zalman / Farra, Lance M / Hyson, Eric / Noureddine, Moataz / Wei, Jun S / Smith, Malcolm A / Asgharzadeh, Shahab / Seeger, Robert C / Khan, Javed / Auvil, Jaime Guidry / Gerhard, Daniela S / Maris, John M / Diskin, Sharon J

    Genome research

    2020  Volume 30, Issue 9, Page(s) 1228–1242

    Abstract: Neuroblastoma is a malignancy of the developing sympathetic nervous system that accounts for 12% of childhood cancer deaths. Like many childhood cancers, neuroblastoma shows a relative paucity of somatic single-nucleotide variants (SNVs) and small ... ...

    Abstract Neuroblastoma is a malignancy of the developing sympathetic nervous system that accounts for 12% of childhood cancer deaths. Like many childhood cancers, neuroblastoma shows a relative paucity of somatic single-nucleotide variants (SNVs) and small insertions and deletions (indels) compared to adult cancers. Here, we assessed the contribution of somatic structural variation (SV) in neuroblastoma using a combination of whole-genome sequencing (WGS) of tumor-normal pairs (
    MeSH term(s) Cell Line, Tumor ; Chromothripsis ; Cohort Studies ; DNA Breaks ; DNA Copy Number Variations ; Female ; Genes, Tumor Suppressor ; Genomic Structural Variation ; Humans ; Male ; N-Myc Proto-Oncogene Protein/genetics ; Nerve Tissue Proteins/genetics ; Neuroblastoma/genetics ; Neuroblastoma/pathology ; Neurogenesis/genetics ; Polymorphism, Single Nucleotide ; Quantitative Trait Loci ; RNA, Neoplasm ; RNA-Seq ; Risk Assessment ; Telomerase/genetics ; Tumor Cells, Cultured ; Whole Genome Sequencing
    Chemical Substances MYCN protein, human ; N-Myc Proto-Oncogene Protein ; Nerve Tissue Proteins ; RNA, Neoplasm ; SHANK2 protein, human ; TERT protein, human (EC 2.7.7.49) ; Telomerase (EC 2.7.7.49)
    Language English
    Publishing date 2020-08-13
    Publishing country United States
    Document type Journal Article ; Research Support, N.I.H., Extramural
    ZDB-ID 1284872-4
    ISSN 1549-5469 ; 1088-9051 ; 1054-9803
    ISSN (online) 1549-5469
    ISSN 1088-9051 ; 1054-9803
    DOI 10.1101/gr.252106.119
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  5. Article ; Online: An expanded universe of cancer targets.

    Hahn, William C / Bader, Joel S / Braun, Theodore P / Califano, Andrea / Clemons, Paul A / Druker, Brian J / Ewald, Andrew J / Fu, Haian / Jagu, Subhashini / Kemp, Christopher J / Kim, William / Kuo, Calvin J / McManus, Michael / B Mills, Gordon / Mo, Xiulei / Sahni, Nidhi / Schreiber, Stuart L / Talamas, Jessica A / Tamayo, Pablo /
    Tyner, Jeffrey W / Wagner, Bridget K / Weiss, William A / Gerhard, Daniela S

    Cell

    2021  Volume 184, Issue 5, Page(s) 1142–1155

    Abstract: The characterization of cancer genomes has provided insight into somatically altered genes across tumors, transformed our understanding of cancer biology, and enabled tailoring of therapeutic strategies. However, the function of most cancer alleles ... ...

    Abstract The characterization of cancer genomes has provided insight into somatically altered genes across tumors, transformed our understanding of cancer biology, and enabled tailoring of therapeutic strategies. However, the function of most cancer alleles remains mysterious, and many cancer features transcend their genomes. Consequently, tumor genomic characterization does not influence therapy for most patients. Approaches to understand the function and circuitry of cancer genes provide complementary approaches to elucidate both oncogene and non-oncogene dependencies. Emerging work indicates that the diversity of therapeutic targets engendered by non-oncogene dependencies is much larger than the list of recurrently mutated genes. Here we describe a framework for this expanded list of cancer targets, providing novel opportunities for clinical translation.
    MeSH term(s) Animals ; Clinical Trials as Topic ; Disease Models, Animal ; Drug Delivery Systems ; Genomics ; Humans ; Neoplasms/drug therapy ; Neoplasms/genetics ; Neoplasms/pathology ; Tumor Escape/drug effects ; Tumor Microenvironment/drug effects
    Language English
    Publishing date 2021-02-24
    Publishing country United States
    Document type Journal Article ; Research Support, N.I.H., Extramural ; Review
    ZDB-ID 187009-9
    ISSN 1097-4172 ; 0092-8674
    ISSN (online) 1097-4172
    ISSN 0092-8674
    DOI 10.1016/j.cell.2021.02.020
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  6. Article ; Online: A community challenge for a pancancer drug mechanism of action inference from perturbational profile data.

    Douglass, Eugene F / Allaway, Robert J / Szalai, Bence / Wang, Wenyu / Tian, Tingzhong / Fernández-Torras, Adrià / Realubit, Ron / Karan, Charles / Zheng, Shuyu / Pessia, Alberto / Tanoli, Ziaurrehman / Jafari, Mohieddin / Wan, Fangping / Li, Shuya / Xiong, Yuanpeng / Duran-Frigola, Miquel / Bertoni, Martino / Badia-I-Mompel, Pau / Mateo, Lídia /
    Guitart-Pla, Oriol / Chung, Verena / Tang, Jing / Zeng, Jianyang / Aloy, Patrick / Saez-Rodriguez, Julio / Guinney, Justin / Gerhard, Daniela S / Califano, Andrea

    Cell reports. Medicine

    2022  Volume 3, Issue 1, Page(s) 100492

    Abstract: The Columbia Cancer Target Discovery and Development (CTD2) Center is developing PANACEA, a resource comprising dose-responses and RNA sequencing (RNA-seq) profiles of 25 cell lines perturbed with ∼400 clinical oncology drugs, to study a tumor-specific ... ...

    Abstract The Columbia Cancer Target Discovery and Development (CTD2) Center is developing PANACEA, a resource comprising dose-responses and RNA sequencing (RNA-seq) profiles of 25 cell lines perturbed with ∼400 clinical oncology drugs, to study a tumor-specific drug mechanism of action. Here, this resource serves as the basis for a DREAM Challenge assessing the accuracy and sensitivity of computational algorithms for
    MeSH term(s) Algorithms ; Gene Expression Profiling ; Gene Expression Regulation, Neoplastic ; Humans ; Neoplasms/drug therapy ; Neural Networks, Computer ; Polypharmacology ; Protein Kinases/metabolism ; RNA, Messenger/genetics ; RNA, Messenger/metabolism ; Transcription, Genetic
    Chemical Substances RNA, Messenger ; Protein Kinases (EC 2.7.-)
    Language English
    Publishing date 2022-01-18
    Publishing country United States
    Document type Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
    ISSN 2666-3791
    ISSN (online) 2666-3791
    DOI 10.1016/j.xcrm.2021.100492
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  7. Article ; Online: Framework for quality assessment of whole genome cancer sequences.

    Whalley, Justin P / Buchhalter, Ivo / Rheinbay, Esther / Raine, Keiran M / Stobbe, Miranda D / Kleinheinz, Kortine / Werner, Johannes / Beltran, Sergi / Gut, Marta / Hübschmann, Daniel / Hutter, Barbara / Livitz, Dimitri / Perry, Marc D / Rosenberg, Mara / Saksena, Gordon / Trotta, Jean-Rémi / Eils, Roland / Gerhard, Daniela S / Campbell, Peter J /
    Schlesner, Matthias / Gut, Ivo G

    Nature communications

    2020  Volume 11, Issue 1, Page(s) 5040

    Abstract: Bringing together cancer genomes from different projects increases power and allows the investigation of pan-cancer, molecular mechanisms. However, working with whole genomes sequenced over several years in different sequencing centres requires a ... ...

    Abstract Bringing together cancer genomes from different projects increases power and allows the investigation of pan-cancer, molecular mechanisms. However, working with whole genomes sequenced over several years in different sequencing centres requires a framework to compare the quality of these sequences. We used the Pan-Cancer Analysis of Whole Genomes cohort as a test case to construct such a framework. This cohort contains whole cancer genomes of 2832 donors from 18 sequencing centres. We developed a non-redundant set of five quality control (QC) measurements to establish a star rating system. These QC measures reflect known differences in sequencing protocol and provide a guide to downstream analyses and allow for exclusion of samples of poor quality. We have found that this is an effective framework of quality measures. The implementation of the framework is available at: https://dockstore.org/containers/quay.io/jwerner_dkfz/pancanqc:1.2.2 .
    MeSH term(s) Chromosome Mapping/standards ; Chromosomes, Human/genetics ; DNA Mutational Analysis/standards ; Female ; Genome, Human/genetics ; Genomics/methods ; Genomics/standards ; High-Throughput Nucleotide Sequencing/standards ; Humans ; Male ; Mutation ; Neoplasms/genetics ; Quality Control ; Software ; Whole Genome Sequencing/standards
    Language English
    Publishing date 2020-10-07
    Publishing country England
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 2553671-0
    ISSN 2041-1723 ; 2041-1723
    ISSN (online) 2041-1723
    ISSN 2041-1723
    DOI 10.1038/s41467-020-18688-y
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  8. Article ; Online: CTD2 Dashboard: a searchable web interface to connect validated results from the Cancer Target Discovery and Development Network.

    Aksoy, Bülent Arman / Dancík, Vlado / Smith, Kenneth / Mazerik, Jessica N / Ji, Zhou / Gross, Benjamin / Nikolova, Olga / Jaber, Nadia / Califano, Andrea / Schreiber, Stuart L / Gerhard, Daniela S / Hermida, Leandro C / Jagu, Subhashini / Sander, Chris / Floratos, Aris / Clemons, Paul A

    Database : the journal of biological databases and curation

    2017  Volume 2017

    Abstract: Database url: https://ctd2-dashboard.nci.nih.gov/. ...

    Abstract Database url: https://ctd2-dashboard.nci.nih.gov/.
    MeSH term(s) Computational Biology/methods ; Databases, Factual ; Humans ; Internet ; Neoplasms/genetics ; User-Computer Interface
    Language English
    Publishing date 2017-12-05
    Publishing country England
    Document type Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
    ZDB-ID 2496706-3
    ISSN 1758-0463 ; 1758-0463
    ISSN (online) 1758-0463
    ISSN 1758-0463
    DOI 10.1093/database/bax054
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  9. Article ; Online: Genetic subgroups inform on pathobiology in adult and pediatric Burkitt lymphoma.

    Thomas, Nicole / Dreval, Kostiantyn / Gerhard, Daniela S / Hilton, Laura K / Abramson, Jeremy S / Ambinder, Richard F / Barta, Stefan / Bartlett, Nancy L / Bethony, Jeffrey / Bhatia, Kishor / Bowen, Jay / Bryan, Anthony C / Cesarman, Ethel / Casper, Corey / Chadburn, Amy / Cruz, Manuela / Dittmer, Dirk P / Dyer, Maureen A / Farinha, Pedro /
    Gastier-Foster, Julie M / Gerrie, Alina S / Grande, Bruno M / Greiner, Timothy / Griner, Nicholas B / Gross, Thomas G / Harris, Nancy L / Irvin, John D / Jaffe, Elaine S / Henry, David / Huppi, Rebecca / Leal, Fabio E / Lee, Michael S / Martin, Jean Paul / Martin, Marie-Reine / Mbulaiteye, Sam M / Mitsuyasu, Ronald / Morris, Vivian / Mullighan, Charles G / Mungall, Andrew J / Mungall, Karen / Mutyaba, Innocent / Nokta, Mostafa / Namirembe, Constance / Noy, Ariela / Ogwang, Martin D / Omoding, Abraham / Orem, Jackson / Ott, German / Petrello, Hilary / Pittaluga, Stefania / Phelan, James D / Ramos, Juan Carlos / Ratner, Lee / Reynolds, Steven J / Rubinstein, Paul G / Sissolak, Gerhard / Slack, Graham / Soudi, Shaghayegh / Swerdlow, Steven H / Traverse-Glehen, Alexandra / Wilson, Wyndham H / Wong, Jasper / Yarchoan, Robert / ZenKlusen, Jean C / Marra, Marco A / Staudt, Louis M / Scott, David W / Morin, Ryan D

    Blood

    2023  Volume 141, Issue 8, Page(s) 904–916

    Abstract: Burkitt lymphoma (BL) accounts for most pediatric non-Hodgkin lymphomas, being less common but significantly more lethal when diagnosed in adults. Much of the knowledge of the genetics of BL thus far has originated from the study of pediatric BL (pBL), ... ...

    Abstract Burkitt lymphoma (BL) accounts for most pediatric non-Hodgkin lymphomas, being less common but significantly more lethal when diagnosed in adults. Much of the knowledge of the genetics of BL thus far has originated from the study of pediatric BL (pBL), leaving its relationship to adult BL (aBL) and other adult lymphomas not fully explored. We sought to more thoroughly identify the somatic changes that underlie lymphomagenesis in aBL and any molecular features that associate with clinical disparities within and between pBL and aBL. Through comprehensive whole-genome sequencing of 230 BL and 295 diffuse large B-cell lymphoma (DLBCL) tumors, we identified additional significantly mutated genes, including more genetic features that associate with tumor Epstein-Barr virus status, and unraveled new distinct subgroupings within BL and DLBCL with 3 predominantly comprising BLs: DGG-BL (DDX3X, GNA13, and GNAI2), IC-BL (ID3 and CCND3), and Q53-BL (quiet TP53). Each BL subgroup is characterized by combinations of common driver and noncoding mutations caused by aberrant somatic hypermutation. The largest subgroups of BL cases, IC-BL and DGG-BL, are further characterized by distinct biological and gene expression differences. IC-BL and DGG-BL and their prototypical genetic features (ID3 and TP53) had significant associations with patient outcomes that were different among aBL and pBL cohorts. These findings highlight shared pathogenesis between aBL and pBL, and establish genetic subtypes within BL that serve to delineate tumors with distinct molecular features, providing a new framework for epidemiologic, diagnostic, and therapeutic strategies.
    MeSH term(s) Child ; Humans ; Adult ; Burkitt Lymphoma/pathology ; Epstein-Barr Virus Infections ; Herpesvirus 4, Human ; Lymphoma, Large B-Cell, Diffuse/pathology ; Mutation
    Language English
    Publishing date 2023-02-10
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't ; Research Support, N.I.H., Extramural
    ZDB-ID 80069-7
    ISSN 1528-0020 ; 0006-4971
    ISSN (online) 1528-0020
    ISSN 0006-4971
    DOI 10.1182/blood.2022016534
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  10. 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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