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  1. Article ; Online: A chance encounter leads into immunogenomics.

    Mardis, Elaine R

    Nature cancer

    2023  Volume 4, Issue 5, Page(s) 585

    Language English
    Publishing date 2023-05-09
    Publishing country England
    Document type Journal Article
    ISSN 2662-1347
    ISSN (online) 2662-1347
    DOI 10.1038/s43018-023-00558-3
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article ; Online: Ten-Patient Trial: Remarkable Responses in Pediatric Cancers.

    Mardis, Elaine R

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

    2023  Volume 29, Issue 23, Page(s) 4701–4702

    Abstract: A clinical trial of nivolumab in 10 patients with pediatric cancer with high tumor mutational burden demonstrated complete responses in 50% of patients. This result recapitulates multiple clinical trial results in high mutation-burden adult cancers and ... ...

    Abstract A clinical trial of nivolumab in 10 patients with pediatric cancer with high tumor mutational burden demonstrated complete responses in 50% of patients. This result recapitulates multiple clinical trial results in high mutation-burden adult cancers and may redefine best practice in the setting of germline DNA mismatch repair-based susceptibility. See related article by Das et al., p. 4770.
    MeSH term(s) Adult ; Child ; Humans ; Nivolumab ; Neoplasms/drug therapy ; Neoplasms/genetics ; DNA Mismatch Repair
    Chemical Substances Nivolumab (31YO63LBSN)
    Language English
    Publishing date 2023-09-21
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't ; Comment
    ZDB-ID 1225457-5
    ISSN 1557-3265 ; 1078-0432
    ISSN (online) 1557-3265
    ISSN 1078-0432
    DOI 10.1158/1078-0432.CCR-23-2232
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    Zs.A 4223: Show issues Location:
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    Jg. 1995 - 2021: Lesesall (2.OG)
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  3. Article ; Online: Overview of modern genomic tools for diagnosis and precision therapy of childhood solid cancers.

    Mardis, Elaine R

    Current opinion in pediatrics

    2023  Volume 36, Issue 1, Page(s) 71–77

    Abstract: Purpose of review: The application of technology and computational analyses to generate new data types from pediatric solid cancers is transforming diagnostic accuracy. This review provides an overview of such new capabilities in the pursuit of improved ...

    Abstract Purpose of review: The application of technology and computational analyses to generate new data types from pediatric solid cancers is transforming diagnostic accuracy. This review provides an overview of such new capabilities in the pursuit of improved treatment for essentially rare and underserved diseases that are the highest cause of mortality in children over one year of age. Sophisticated ways of identifying therapeutic vulnerabilities for highly personalized treatment are presented alongside cutting-edge disease response monitoring by liquid biopsy.
    Recent findings: Precision molecular profiling data are now being combined with conventional pathology-based evaluation of pediatric cancer tissues. The resulting diagnostic information can be used to guide therapeutic decision-making, including the use of small molecule inhibitors and of immunotherapies. Integrating somatic and germline variant profiles constitutes a critical component of this emerging paradigm, as does tissue-of-origin derivation from methylation profiling, and rapid screening of potential therapies. These new approaches are poised for use in disease response and therapy resistance monitoring.
    Summary: The integration of clinical molecular profiling data with pathology can provide a highly precise diagnosis, identify therapeutic vulnerabilities, and monitor patient responses, providing next steps toward precision oncology for improved outcomes, including reducing lifelong treatment-related sequelae.
    MeSH term(s) Child ; Humans ; Neoplasms/diagnosis ; Neoplasms/genetics ; Neoplasms/therapy ; Precision Medicine/methods ; Liquid Biopsy/methods ; Medical Oncology/methods ; Genomics
    Language English
    Publishing date 2023-11-16
    Publishing country United States
    Document type Review ; Journal Article
    ZDB-ID 1049374-8
    ISSN 1531-698X ; 1040-8703
    ISSN (online) 1531-698X
    ISSN 1040-8703
    DOI 10.1097/MOP.0000000000001311
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    Zs.A 3049: Show issues Location:
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  4. Article ; Online: Acute Myeloid Leukemia Genomics: Impact on Care and Remaining Challenges.

    Eisfeld, Ann-Kathrin / Mardis, Elaine R

    Clinical chemistry

    2024  Volume 70, Issue 1, Page(s) 4–12

    Language English
    Publishing date 2024-01-04
    Publishing country England
    Document type Journal Article
    ZDB-ID 80102-1
    ISSN 1530-8561 ; 0009-9147
    ISSN (online) 1530-8561
    ISSN 0009-9147
    DOI 10.1093/clinchem/hvad171
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  5. Article ; Online: The emergence of cancer genomics in diagnosis and precision medicine.

    Mardis, Elaine R

    Nature cancer

    2021  Volume 2, Issue 12, Page(s) 1263–1264

    MeSH term(s) Genomics ; Humans ; Neoplasms/diagnosis ; Precision Medicine
    Language English
    Publishing date 2021-12-13
    Publishing country England
    Document type Journal Article
    ISSN 2662-1347
    ISSN (online) 2662-1347
    DOI 10.1038/s43018-021-00305-6
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  6. Article ; Online: Accurate diagnosis of pediatric brain cancers.

    Bandopadhayay, Pratiti / Mardis, Elaine R

    Nature medicine

    2023  Volume 29, Issue 4, Page(s) 787–788

    MeSH term(s) Child ; Humans ; Brain Neoplasms/diagnosis ; Brain Neoplasms/genetics ; Brain
    Language English
    Publishing date 2023-03-17
    Publishing country United States
    Document type Journal Article ; Comment
    ZDB-ID 1220066-9
    ISSN 1546-170X ; 1078-8956
    ISSN (online) 1546-170X
    ISSN 1078-8956
    DOI 10.1038/s41591-023-02254-2
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    Zs.A 4212: Show issues Location:
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    Zs.MG 39: Show issues

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  7. Article ; Online: Genomic prediction of neoantigens: immunogenomics before NGS.

    Mardis, Elaine R

    Nature reviews. Genetics

    2021  Volume 22, Issue 9, Page(s) 550–551

    MeSH term(s) Antigens, Neoplasm/genetics ; Antigens, Neoplasm/immunology ; High-Throughput Nucleotide Sequencing ; Humans ; Neoplasms/genetics ; Neoplasms/immunology
    Chemical Substances Antigens, Neoplasm
    Language English
    Publishing date 2021-05-14
    Publishing country England
    Document type Journal Article
    ZDB-ID 2035157-4
    ISSN 1471-0064 ; 1471-0056
    ISSN (online) 1471-0064
    ISSN 1471-0056
    DOI 10.1038/s41576-021-00374-4
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    Zs.A 5474: Show issues Location:
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  8. Article ; Online: Pediatric CNS cancer genomics and immunogenomics.

    Miller, Katherine E / Mardis, Elaine R

    Current opinion in genetics & development

    2022  Volume 75, Page(s) 101918

    Abstract: Large-scale genomic discovery in pediatric cancers established the importance of multiple platform-based characterizations of DNA and RNA to obtain a complete molecular landscape of these cancers, including actionable variants, diagnostic or prognostic ... ...

    Abstract Large-scale genomic discovery in pediatric cancers established the importance of multiple platform-based characterizations of DNA and RNA to obtain a complete molecular landscape of these cancers, including actionable variants, diagnostic or prognostic evidence, and germline susceptibility. While these discoveries set the stage for pediatric cancer precision medicine, broad-based implementation has been quite slow compared with the adult-cancer precision medicine setting, due largely to the rarity of pediatric cancer. Here, we survey several large-cohort studies that utilize multiplex clinical characterization, including pediatric patients diagnosed with central nervous system (CNS) malignancies. The reported results demonstrate that molecularly guided precision therapeutics yield clinical benefit for these patients, establishing one important component needed for precision therapeutics to enter the pediatric CNS setting.
    MeSH term(s) Adult ; Child ; Genomics/methods ; Humans ; Neoplasms/genetics ; Precision Medicine
    Language English
    Publishing date 2022-05-23
    Publishing country England
    Document type Journal Article ; Review ; Research Support, Non-U.S. Gov't
    ZDB-ID 1077312-5
    ISSN 1879-0380 ; 0959-437X
    ISSN (online) 1879-0380
    ISSN 0959-437X
    DOI 10.1016/j.gde.2022.101918
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    Zs.A 3240: Show issues Location:
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  9. Article ; Online: Envisioning the next human genome reference.

    Lek, Monkol / Mardis, Elaine R

    Disease models & mechanisms

    2021  Volume 14, Issue 12

    MeSH term(s) Genome, Human ; Humans
    Language English
    Publishing date 2021-12-22
    Publishing country England
    Document type Editorial
    ZDB-ID 2451104-3
    ISSN 1754-8411 ; 1754-8403
    ISSN (online) 1754-8411
    ISSN 1754-8403
    DOI 10.1242/dmm.049426
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  10. Article ; Online: The Impact of Next-Generation Sequencing on Cancer Genomics: From Discovery to Clinic.

    Mardis, Elaine R

    Cold Spring Harbor perspectives in medicine

    2019  Volume 9, Issue 9

    Abstract: The application of next-generation sequencing (NGS) technology to the study of cancer genomes has been transformational. Not only has this technology revealed the genetic and epigenetic underpinnings of disease onset and progression, but also has ... ...

    Abstract The application of next-generation sequencing (NGS) technology to the study of cancer genomes has been transformational. Not only has this technology revealed the genetic and epigenetic underpinnings of disease onset and progression, but also has redefined our clinical diagnosis and treatment paradigms. This rapid translation from discovery to clinical platform has occurred in the context of new pharmaceutical paradigms, enabling the use of NGS for the diagnosis and definition of therapeutic vulnerabilities of cancer. This review explores this transformation and identifies cutting-edge applications of NGS that will result in its additional utility in cancer care.
    MeSH term(s) Genetic Predisposition to Disease ; Genome, Human ; High-Throughput Nucleotide Sequencing/trends ; Humans ; Neoplasms/genetics ; Neoplasms/therapy ; Sequence Analysis, DNA/trends
    Language English
    Publishing date 2019-09-03
    Publishing country United States
    Document type Journal Article ; Review
    ISSN 2157-1422
    ISSN (online) 2157-1422
    DOI 10.1101/cshperspect.a036269
    Database MEDical Literature Analysis and Retrieval System OnLINE

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