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Journal Abstract Search

183 related items for PubMed ID: 19706752

  • 1. Multimodal assessment of protein functional deficiency supports pathogenicity of BRCA1 p.V1688del.
    De Nicolo A, Parisini E, Zhong Q, Dalla Palma M, Stoeckert KA, Domchek SM, Nathanson KL, Caligo MA, Vidal M, Cusick ME, Garber JE.
    Cancer Res; 2009 Sep 01; 69(17):7030-7. PubMed ID: 19706752
    [Abstract] [Full Text] [Related]

  • 2. BRCA1 interacts with FHL2 and enhances FHL2 transactivation function.
    Yan J, Zhu J, Zhong H, Lu Q, Huang C, Ye Q.
    FEBS Lett; 2003 Oct 09; 553(1-2):183-9. PubMed ID: 14550570
    [Abstract] [Full Text] [Related]

  • 3. Missense variants of uncertain significance (VUS) altering the phosphorylation patterns of BRCA1 and BRCA2.
    Tram E, Savas S, Ozcelik H.
    PLoS One; 2013 Oct 09; 8(5):e62468. PubMed ID: 23704879
    [Abstract] [Full Text] [Related]

  • 4. Clinical and molecular characterization of the BRCA2 p.Asn3124Ile variant reveals substantial evidence for pathogenic significance.
    Surowy HM, Sutter C, Mittnacht M, Klaes R, Schaefer D, Evers C, Burgemeister AL, Goehringer C, Dikow N, Heil J, Golatta M, Schott S, Schneeweiss A, Bugert P, Sohn C, Bartram CR, Burwinkel B.
    Breast Cancer Res Treat; 2014 Jun 09; 145(2):451-60. PubMed ID: 24728577
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  • 7. Characterization of BRCA1 and BRCA2 variants found in a Norwegian breast or ovarian cancer cohort.
    Jarhelle E, Riise Stensland HM, Mæhle L, Van Ghelue M.
    Fam Cancer; 2017 Jan 09; 16(1):1-16. PubMed ID: 27495310
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  • 8. Collective evidence supports neutrality of BRCA1 V1687I, a novel sequence variant in the conserved THV motif of the first BRCT repeat.
    Cortesi L, De Nicolo A, Medici V, Marino M, Turchetti D, Pradella LM, Rossi G, Parisini E, Federico M.
    Breast Cancer Res Treat; 2012 Jul 09; 134(1):435-41. PubMed ID: 22527099
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  • 9. Pathogenicity evaluation of BRCA1 and BRCA2 unclassified variants identified in Portuguese breast/ovarian cancer families.
    Santos C, Peixoto A, Rocha P, Pinto P, Bizarro S, Pinheiro M, Pinto C, Henrique R, Teixeira MR.
    J Mol Diagn; 2014 May 09; 16(3):324-34. PubMed ID: 24607278
    [Abstract] [Full Text] [Related]

  • 10. Combining Homologous Recombination and Phosphopeptide-binding Data to Predict the Impact of BRCA1 BRCT Variants on Cancer Risk.
    Petitalot A, Dardillac E, Jacquet E, Nhiri N, Guirouilh-Barbat J, Julien P, Bouazzaoui I, Bonte D, Feunteun J, Schnell JA, Lafitte P, Aude JC, Noguès C, Rouleau E, Lidereau R, Lopez BS, Zinn-Justin S, Caputo SM, UNICANCER Genetic Group BRCA network.
    Mol Cancer Res; 2019 Jan 09; 17(1):54-69. PubMed ID: 30257991
    [Abstract] [Full Text] [Related]

  • 11. Variants of uncertain significance in BRCA1 and BRCA2 assessment of in silico analysis and a proposal for communication in genetic counselling.
    Moghadasi S, Hofland N, Wouts JN, Hogervorst FB, Wijnen JT, Vreeswijk MP, van Asperen CJ.
    J Med Genet; 2013 Feb 09; 50(2):74-9. PubMed ID: 23231788
    [Abstract] [Full Text] [Related]

  • 12. Comparative analysis of BRCA1 and BRCA2 variants of uncertain significance in patients with breast cancer: a multifactorial probability-based model versus ACMG standards and guidelines for interpreting sequence variants.
    Park KS, Cho EY, Nam SJ, Ki CS, Kim JW.
    Genet Med; 2016 Dec 09; 18(12):1250-1257. PubMed ID: 27124784
    [Abstract] [Full Text] [Related]

  • 13. Mutational analysis of the BRCA1-interacting genes ZNF350/ZBRK1 and BRIP1/BACH1 among BRCA1 and BRCA2-negative probands from breast-ovarian cancer families and among early-onset breast cancer cases and reference individuals.
    Rutter JL, Smith AM, Dávila MR, Sigurdson AJ, Giusti RM, Pineda MA, Doody MM, Tucker MA, Greene MH, Zhang J, Struewing JP.
    Hum Mutat; 2003 Aug 09; 22(2):121-8. PubMed ID: 12872252
    [Abstract] [Full Text] [Related]

  • 14. A systematic genetic assessment of 1,433 sequence variants of unknown clinical significance in the BRCA1 and BRCA2 breast cancer-predisposition genes.
    Easton DF, Deffenbaugh AM, Pruss D, Frye C, Wenstrup RJ, Allen-Brady K, Tavtigian SV, Monteiro AN, Iversen ES, Couch FJ, Goldgar DE.
    Am J Hum Genet; 2007 Nov 09; 81(5):873-83. PubMed ID: 17924331
    [Abstract] [Full Text] [Related]

  • 15. Impact of amino acid substitutions at secondary structures in the BRCT domains of the tumor suppressor BRCA1: Implications for clinical annotation.
    Fernandes VC, Golubeva VA, Di Pietro G, Shields C, Amankwah K, Nepomuceno TC, de Gregoriis G, Abreu RBV, Harro C, Gomes TT, Silva RF, Suarez-Kurtz G, Couch FJ, Iversen ES, Monteiro ANA, Carvalho MA.
    J Biol Chem; 2019 Apr 12; 294(15):5980-5992. PubMed ID: 30765603
    [Abstract] [Full Text] [Related]

  • 16. Mutational analysis of the breast cancer susceptibility gene BRIP1 /BACH1/FANCJ in high-risk non-BRCA1/BRCA2 breast cancer families.
    Guénard F, Labrie Y, Ouellette G, Joly Beauparlant C, Simard J, INHERIT BRCAs, Durocher F.
    J Hum Genet; 2008 Apr 12; 53(7):579. PubMed ID: 18414782
    [Abstract] [Full Text] [Related]

  • 17. Structure-based assessment of BRCA1 and BRCA2 mutations in a small Spanish population.
    Salgado J, Zabalegui N, García-Amigot F, Gil MC, González MS, García-Foncillas J.
    Oncol Rep; 2005 Jul 12; 14(1):85-8. PubMed ID: 15944772
    [Abstract] [Full Text] [Related]

  • 18. BRCA1/2 sequence variants of uncertain significance: a primer for providers to assist in discussions and in medical management.
    Lindor NM, Goldgar DE, Tavtigian SV, Plon SE, Couch FJ.
    Oncologist; 2013 Jul 12; 18(5):518-24. PubMed ID: 23615697
    [Abstract] [Full Text] [Related]

  • 19. Prevalence of BRCA1/BRCA2 mutations in a Brazilian population sample at-risk for hereditary breast cancer and characterization of its genetic ancestry.
    Fernandes GC, Michelli RA, Galvão HC, Paula AE, Pereira R, Andrade CE, Felicio PS, Souza CP, Mendes DR, Volc S, Berardinelli GN, Grasel RS, Sabato CS, Viana DV, Mauad EC, Scapulatempo-Neto C, Arun B, Reis RM, Palmero EI.
    Oncotarget; 2016 Dec 06; 7(49):80465-80481. PubMed ID: 27741520
    [Abstract] [Full Text] [Related]

  • 20. Mutations in the BRCT binding site of BRCA1 result in hyper-recombination.
    Dever SM, Golding SE, Rosenberg E, Adams BR, Idowu MO, Quillin JM, Valerie N, Xu B, Povirk LF, Valerie K.
    Aging (Albany NY); 2011 May 06; 3(5):515-32. PubMed ID: 21666281
    [Abstract] [Full Text] [Related]

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