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  1. Article ; Online: Actionable Genotypes and Life Span in Iceland.

    Foulkes, William D / Polak, Paz

    The New England journal of medicine

    2024  Volume 390, Issue 10, Page(s) 957–958

    MeSH term(s) Humans ; Longevity ; Iceland
    Language English
    Publishing date 2024-03-06
    Publishing country United States
    Document type Letter ; Comment
    ZDB-ID 207154-x
    ISSN 1533-4406 ; 0028-4793
    ISSN (online) 1533-4406
    ISSN 0028-4793
    DOI 10.1056/NEJMc2314021
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  2. Article ; Online: Helicobacter pylori, Homologous-Recombination Genes, and Gastric Cancer.

    Foulkes, William D / Polak, Paz / Karlić, Rosa

    The New England journal of medicine

    2023  Volume 389, Issue 4, Page(s) 379–380

    MeSH term(s) Humans ; Stomach Neoplasms/genetics ; Helicobacter pylori/genetics ; Recombination, Genetic
    Language English
    Publishing date 2023-07-25
    Publishing country United States
    Document type Letter ; Comment
    ZDB-ID 207154-x
    ISSN 1533-4406 ; 0028-4793
    ISSN (online) 1533-4406
    ISSN 0028-4793
    DOI 10.1056/NEJMc2306877
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  3. Article ; Online: PD-1 and PD-L1 Blockade plus Chemotherapy in Endometrial Cancer.

    Polak, Paz / Fu, Lili / Foulkes, William D

    The New England journal of medicine

    2023  Volume 389, Issue 9, Page(s) 866

    MeSH term(s) Humans ; Female ; Programmed Cell Death 1 Receptor ; B7-H1 Antigen ; Endometrial Neoplasms/drug therapy ; Antibodies, Monoclonal, Humanized/therapeutic use
    Chemical Substances pembrolizumab (DPT0O3T46P) ; Programmed Cell Death 1 Receptor ; B7-H1 Antigen ; Antibodies, Monoclonal, Humanized
    Language English
    Publishing date 2023-09-27
    Publishing country United States
    Document type Letter ; Comment
    ZDB-ID 207154-x
    ISSN 1533-4406 ; 0028-4793
    ISSN (online) 1533-4406
    ISSN 0028-4793
    DOI 10.1056/NEJMc2308037
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  4. Article ; Online: Li-Fraumeni Syndrome in the Cancer Genomics Era.

    Foulkes, William D / Polak, Paz

    Journal of the National Cancer Institute

    2021  Volume 113, Issue 12, Page(s) 1615–1617

    MeSH term(s) Humans ; Li-Fraumeni Syndrome/genetics ; Genomics ; Tumor Suppressor Protein p53/genetics
    Chemical Substances TP53 protein, human ; Tumor Suppressor Protein p53
    Language English
    Publishing date 2021-07-08
    Publishing country United States
    Document type Editorial ; Comment
    ZDB-ID 2992-0
    ISSN 1460-2105 ; 0027-8874 ; 0198-0157
    ISSN (online) 1460-2105
    ISSN 0027-8874 ; 0198-0157
    DOI 10.1093/jnci/djab118
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  5. Article ; Online: Bilateral Tumors - Inherited or Acquired?

    Foulkes, William D / Polak, Paz

    The New England journal of medicine

    2020  Volume 383, Issue 3, Page(s) 280–282

    MeSH term(s) DNA, Neoplasm ; Female ; Germ-Line Mutation ; Humans ; Kidney/embryology ; Male ; Mutation ; Neoplasms, Multiple Primary/embryology ; Neoplasms, Multiple Primary/genetics ; Pedigree ; Whole Genome Sequencing ; Wilms Tumor/embryology ; Wilms Tumor/genetics
    Chemical Substances DNA, Neoplasm
    Language English
    Publishing date 2020-07-15
    Publishing country United States
    Document type Journal Article
    ZDB-ID 207154-x
    ISSN 1533-4406 ; 0028-4793
    ISSN (online) 1533-4406
    ISSN 0028-4793
    DOI 10.1056/NEJMcibr2007784
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  6. Article ; Online: Olaparib for Metastatic Castration-Resistant Prostate Cancer.

    Mutetwa, Tinaye / Foulkes, William D / Polak, Paz

    The New England journal of medicine

    2020  Volume 383, Issue 9, Page(s) 890

    MeSH term(s) Humans ; Male ; Phthalazines ; Piperazines ; Prostatic Neoplasms, Castration-Resistant
    Chemical Substances Phthalazines ; Piperazines ; olaparib (WOH1JD9AR8)
    Language English
    Publishing date 2020-10-15
    Publishing country United States
    Document type Letter ; Comment
    ZDB-ID 207154-x
    ISSN 1533-4406 ; 0028-4793
    ISSN (online) 1533-4406
    ISSN 0028-4793
    DOI 10.1056/NEJMc2023199
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  7. Article ; Online: Companion Tumor Sequencing to Assess the Clinical Significance of Germline Sequencing in Children With Cancer.

    Mutetwa, Tinaye / Goudie, Catherine / Foulkes, William D / Polak, Paz

    JAMA network open

    2021  Volume 4, Issue 11, Page(s) e2135135

    MeSH term(s) Adolescent ; Adult ; Aged ; Aged, 80 and over ; Biomarkers, Tumor/genetics ; Case-Control Studies ; Child ; Child, Preschool ; Female ; Genetic Predisposition to Disease ; Germ-Line Mutation ; Humans ; Infant ; Infant, Newborn ; Male ; Middle Aged ; Neoplastic Syndromes, Hereditary/genetics ; Young Adult
    Chemical Substances Biomarkers, Tumor
    Language English
    Publishing date 2021-11-01
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ISSN 2574-3805
    ISSN (online) 2574-3805
    DOI 10.1001/jamanetworkopen.2021.35135
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  8. Article: The Great Majority of Homologous Recombination Repair-Deficient Tumors Are Accounted for by Established Causes.

    Štancl, Paula / Hamel, Nancy / Sigel, Keith M / Foulkes, William D / Karlić, Rosa / Polak, Paz

    Frontiers in genetics

    2022  Volume 13, Page(s) 852159

    Abstract: Background: ...

    Abstract Background:
    Language English
    Publishing date 2022-06-17
    Publishing country Switzerland
    Document type Journal Article
    ZDB-ID 2606823-0
    ISSN 1664-8021
    ISSN 1664-8021
    DOI 10.3389/fgene.2022.852159
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  9. Article ; Online: Exercise-Induced Cell-Free DNA Correlates with Energy Expenditure in Multiple Exercise Protocols.

    Nogiec, Christopher D / Karlic, Rosa / Taborda, Eddie / Dunkelbarger, Sonia / Fridlich, Ori / Dor, Yuval / Polak, Paz / Li, Rui

    Medicine and science in sports and exercise

    2023  Volume 56, Issue 5, Page(s) 813–821

    Abstract: Purpose: Exercise-induced cell-free DNA (ei-cfDNA) has been studied in response to various types of exercise. Its correlation with exercise intensity and duration has been observed consistently. However, comprehensive measurements and exploration of the ...

    Abstract Purpose: Exercise-induced cell-free DNA (ei-cfDNA) has been studied in response to various types of exercise. Its correlation with exercise intensity and duration has been observed consistently. However, comprehensive measurements and exploration of the tissue of origin are lacking. The aim of this study is to establish precise connections between exercise variables and the distribution of tissue of origin, aiming to provide further evidence supporting its use as a biomarker for exercise.
    Methods: Twelve self-identified active adults (six men and six women) performed a crossover study starting with either endurance testing or resistance testing under different intensities and protocols. We obtained blood before and after each exercise session and measured the levels of cfDNA and determined its tissue of origin utilizing cell type-specific DNA methylation patterns in plasma.
    Results: We found that when duration and intensity are fixed, ei-cfDNA fold change correlates with energy expenditure ( P = 0.001) in endurance testing and years trained ( P = 0.001) in resistance testing. Most of the ei-cfDNA comes from increases in white blood cells (~95%) where neutrophils make up the majority (~74%) and the distribution is different between exercise modalities and protocols.
    Conclusions: This study highlights the potential of exercise-induced cfDNA as a biomarker for exercise, showing correlations with energy expenditure and a consistent pattern of tissue origin. Additional research is needed to investigate potential sex differences in the response of cfDNA to exercise, further exploring its clinical implications.
    MeSH term(s) Adult ; Humans ; Male ; Female ; Cell-Free Nucleic Acids ; Cross-Over Studies ; Exercise/physiology ; Biomarkers ; Energy Metabolism/physiology
    Chemical Substances Cell-Free Nucleic Acids ; Biomarkers
    Language English
    Publishing date 2023-12-18
    Publishing country United States
    Document type Journal Article
    ZDB-ID 603994-7
    ISSN 1530-0315 ; 0195-9131 ; 0025-7990
    ISSN (online) 1530-0315
    ISSN 0195-9131 ; 0025-7990
    DOI 10.1249/MSS.0000000000003363
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    Zs.A 869: Show issues Location:
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  10. Article ; Online: Host Nuclear Genome Copy Number Variations Identify High-Risk Anal Precancers in People Living with HIV.

    Mutetwa, Tinaye / Liu, Yuxin / Silvera, Richard / Evans, Michelle / Yurich, Michael / Tripodi, Joseph / Leonard, Issa / Houldsworth, Jane / Gümüş, Zeynep / Bowcock, Anne M / Sigel, Keith / Gaisa, Michael / Polak, Paz

    Journal of acquired immune deficiency syndromes (1999)

    2024  

    Abstract: Background: People living with HIV (PLWH) have substantially increased incidence of anal precancer and cancer. There are very little data regarding genomic disturbances in anal precancers among PLWH. Here, we identified specific chromosomal variants in ... ...

    Abstract Background: People living with HIV (PLWH) have substantially increased incidence of anal precancer and cancer. There are very little data regarding genomic disturbances in anal precancers among PLWH. Here, we identified specific chromosomal variants in anal squamous intraepithelial lesions.
    Methods: We collected 63 anal biopsy specimens (27 low-grade intraepithelial lesions [LSIL] and 36 high-grade intraepithelial lesions [HSIL]) from PLWH obtained as part of anal cancer screening in our NYC-based health system. Data on patient demographics, anal cytological and high-risk human papillomavirus (HR-HPV) diagnoses were collected. Specimens were tested for a panel of chromosomal alterations associated with HPV-induced oncogenesis using Fluorescence In-Situ Hybridization (FISH) and analyses compared the associations of these alterations with clinical characteristics.
    Results: Gains of 3q26, 5p15, 20q13 and cen7 were detected in 42%, 31%, 31%, and 19% of HSIL compared to 7%, 0%, 4%, and 0% of LSIL, respectively. Where at least one abnormality was seen, 89% had a 3q26 gain. In lesions with 5p15 gains, 20q13 gains co-occurred in 91% of cases, while cen7 gain only co-occurred with the other three alterations. Sensitivity and specificity of any alteration to predict HSIL was 47% (95% CI: 30-65%) and 93% (95% CI: 76%-99%) respectively.
    Conclusions: Genomic alterations seen in HPV-associated cancers may help distinguish anal LSIL from HSIL. 3q26 amplification may be an early component of anal carcinogenesis, preceding 5p16, 20q13 and/or chr7.
    Impact: We share insights on potential genomic biomarkers for discriminating high-risk anal precancers.
    Language English
    Publishing date 2024-04-15
    Publishing country United States
    Document type Journal Article
    ZDB-ID 645053-2
    ISSN 1944-7884 ; 1077-9450 ; 0897-5965 ; 0894-9255 ; 1525-4135
    ISSN (online) 1944-7884 ; 1077-9450
    ISSN 0897-5965 ; 0894-9255 ; 1525-4135
    DOI 10.1097/QAI.0000000000003409
    Database MEDical Literature Analysis and Retrieval System OnLINE

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