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Journal Abstract Search

431 related items for PubMed ID: 31907386

  • 21. Retrospective reinterpretation and reclassification of BRCA1/2 variants from Chinese population.
    Li D, Shi Y, Li A, Cao D, Su H, Yang H, Zhi Q, Yang Y, Lan Z, Zhou T, You X, Hu G.
    Breast Cancer; 2020 Nov; 27(6):1158-1167. PubMed ID: 32566972
    [Abstract] [Full Text] [Related]

  • 22. Evidence-based recommendations for gene-specific ACMG/AMP variant classification from the ClinGen ENIGMA BRCA1 and BRCA2 Variant Curation Expert Panel.
    Parsons MT, de la Hoya M, Richardson ME, Tudini E, Anderson M, Berkofsky-Fessler W, Caputo SM, Chan RC, Cline MS, Feng BJ, Fortuno C, Gomez-Garcia E, Hadler J, Hiraki S, Holdren M, Houdayer C, Hruska K, James P, Karam R, Leong HS, Martins A, Mensenkamp AR, Monteiro AN, Nathan V, O'Connor R, Pedersen IS, Pesaran T, Radice P, Schmidt G, Southey M, Tavtigian S, Thompson BA, Toland AE, Turnbull C, Vogel MJ, Weyandt J, Wiggins GAR, Zec L, Couch FJ, Walker LC, Vreeswijk MPG, Goldgar DE, Spurdle AB.
    Am J Hum Genet; 2024 Sep 05; 111(9):2044-2058. PubMed ID: 39142283
    [Abstract] [Full Text] [Related]

  • 23. Trans-activation-based risk assessment of BRCA1 BRCT variants with unknown clinical significance.
    Langerud J, Jarhelle E, Van Ghelue M, Ariansen SL, Iversen N.
    Hum Genomics; 2018 Nov 20; 12(1):51. PubMed ID: 30458859
    [Abstract] [Full Text] [Related]

  • 24. A Study on the Retrospective Reinterpretation of BRCA1 and BRCA2 Variants.
    Kim JJ, Kim DJ, Nam EJ, Song KE, Ham JY, Kim YK, Lee NY.
    Clin Lab; 2024 Apr 01; 70(4):. PubMed ID: 38623660
    [Abstract] [Full Text] [Related]

  • 25. High prevalence of deleterious BRCA1 and BRCA2 germline mutations in arab breast and ovarian cancer patients.
    Alhuqail AJ, Alzahrani A, Almubarak H, Al-Qadheeb S, Alghofaili L, Almoghrabi N, Alhussaini H, Park BH, Colak D, Karakas B.
    Breast Cancer Res Treat; 2018 Apr 01; 168(3):695-702. PubMed ID: 29297111
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  • 27. Strong functional data for pathogenicity or neutrality classify BRCA2 DNA-binding-domain variants of uncertain significance.
    Richardson ME, Hu C, Lee KY, LaDuca H, Fulk K, Durda KM, Deckman AM, Goldgar DE, Monteiro ANA, Gnanaolivu R, Hart SN, Polley EC, Chao E, Pesaran T, Couch FJ.
    Am J Hum Genet; 2021 Mar 04; 108(3):458-468. PubMed ID: 33609447
    [Abstract] [Full Text] [Related]

  • 28. Spectrum of germline pathogenic variants in Brazilian hereditary breast/ovarian cancer cases.
    Faria JP, Assumpção JG, de Oliveira Matos L, Soardi FC, Bretz GPM, Friedman E, De Marco L.
    Breast Cancer Res Treat; 2024 Oct 04; 207(3):615-624. PubMed ID: 38874686
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  • 30. Consolidated BRCA1/2 Variant Interpretation by MH BRCA Correlates with Predicted PARP Inhibitor Efficacy Association by MH Guide.
    Hirotsu Y, Schmidt-Edelkraut U, Nakagomi H, Sakamoto I, Hartenfeller M, Narang R, Soldatos TG, Kaduthanam S, Wang X, Hettich S, Brock S, Jackson DB, Omata M.
    Int J Mol Sci; 2020 May 29; 21(11):. PubMed ID: 32486089
    [Abstract] [Full Text] [Related]

  • 31. BRCA1 and BRCA2 germline mutations screening in Algerian breast/ovarian cancer families.
    Cherbal F, Bakour R, Adane S, Boualga K, Benais-Pont G, Maillet P.
    Dis Markers; 2010 May 29; 28(6):377-84. PubMed ID: 20683152
    [Abstract] [Full Text] [Related]

  • 32. Novel candidates of pathogenic variants of the BRCA1 and BRCA2 genes from a dataset of 3,552 Japanese whole genomes (3.5KJPNv2).
    Tokunaga H, Iida K, Hozawa A, Ogishima S, Watanabe Y, Shigeta S, Shimada M, Yamaguchi-Kabata Y, Tadaka S, Katsuoka F, Ito S, Kumada K, Hamanaka Y, Fuse N, Kinoshita K, Yamamoto M, Yaegashi N, Yasuda J.
    PLoS One; 2021 May 29; 16(1):e0236907. PubMed ID: 33428613
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  • 34. Functional evaluation of BRCA1/2 variants of unknown significance with homologous recombination assay and integrative in silico prediction model.
    Guo Q, Ji S, Takeuchi K, Urasaki W, Suzuki A, Iwasaki Y, Saito H, Xu Z, Arai M, Nakamura S, Momozawa Y, Chiba N, Miki Y, Matsuura M, Sunada S.
    J Hum Genet; 2023 Dec 29; 68(12):849-857. PubMed ID: 37731132
    [Abstract] [Full Text] [Related]

  • 35. Comprehensive profiling of BRCA1 and BRCA2 variants in breast and ovarian cancer in Chinese patients.
    Gao X, Nan X, Liu Y, Liu R, Zang W, Shan G, Gai F, Zhang J, Li L, Cheng G, Song L.
    Hum Mutat; 2020 Mar 29; 41(3):696-708. PubMed ID: 31825140
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  • 38. DNA repair-related functional assays for the classification of BRCA1 and BRCA2 variants: a critical review and needs assessment.
    Toland AE, Andreassen PR.
    J Med Genet; 2017 Nov 29; 54(11):721-731. PubMed ID: 28866612
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  • 40. Systematic misclassification of missense variants in BRCA1 and BRCA2 "coldspots".
    Dines JN, Shirts BH, Slavin TP, Walsh T, King MC, Fowler DM, Pritchard CC.
    Genet Med; 2020 May 29; 22(5):825-830. PubMed ID: 31911673
    [Abstract] [Full Text] [Related]

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