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Journal Abstract Search

280 related items for PubMed ID: 32546644

  • 1. Functional Categorization of BRCA1 Variants of Uncertain Clinical Significance in Homologous Recombination Repair Complementation Assays.
    Bouwman P, van der Heijden I, van der Gulden H, de Bruijn R, Braspenning ME, Moghadasi S, Wessels LFA, Dutch-Belgian VUS workgroup, Vreeswijk MPG, Jonkers J.
    Clin Cancer Res; 2020 Sep 01; 26(17):4559-4568. PubMed ID: 32546644
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  • 3. BRCA1 VUS: A functional analysis to differentiate pathogenic from benign variants identified in clinical diagnostic panels for breast cancer.
    Lourenço RA, Lança M, Monteiro Gil O, Cardoso J, Lourenço T, Pereira-Leal JB, Rodrigues AS, Rueff J, Nunes Silva S.
    Mol Med Rep; 2023 Jul 01; 28(1):. PubMed ID: 37232349
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  • 5. BRCA1 Circos: a visualisation resource for functional analysis of missense variants.
    Jhuraney A, Velkova A, Johnson RC, Kessing B, Carvalho RS, Whiley P, Spurdle AB, Vreeswijk MP, Caputo SM, Millot GA, Vega A, Coquelle N, Galli A, Eccles D, Blok MJ, Pal T, van der Luijt RB, Santamariña Pena M, Neuhausen SL, Donenberg T, Machackova E, Thomas S, Vallée M, Couch FJ, Tavtigian SV, Glover JN, Carvalho MA, Brody LC, Sharan SK, Monteiro AN, Evidence-based Network for the Interpretation of Germline Mutant Alleles Consortium.
    J Med Genet; 2015 Apr 01; 52(4):224-30. PubMed ID: 25643705
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  • 7. Functional analyses of rare germline BRCA1 variants by transcriptional activation and homologous recombination repair assays.
    Bassi N, Hovland HN, Rasheed K, Jarhelle E, Pedersen N, Mchaina EK, Bakkan SME, Iversen N, Høberg-Vetti H, Haukanes BI, Knappskog PM, Aukrust I, Ognedal E, Van Ghelue M.
    BMC Cancer; 2023 Apr 21; 23(1):368. PubMed ID: 37085799
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  • 8. Integration of functional assay data results provides strong evidence for classification of hundreds of BRCA1 variants of uncertain significance.
    Lyra PCM, Nepomuceno TC, de Souza MLM, Machado GF, Veloso MF, Henriques TB, Dos Santos DZ, Ribeiro IG, Ribeiro RS, Rangel LBA, Richardson M, Iversen ES, Goldgar D, Couch FJ, Carvalho MA, Monteiro ANA.
    Genet Med; 2021 Feb 21; 23(2):306-315. PubMed ID: 33087888
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  • 10. Reinterpretation of BRCA1 and BRCA2 variants of uncertain significance in patients with hereditary breast/ovarian cancer using the ACMG/AMP 2015 guidelines.
    So MK, Jeong TD, Lim W, Moon BI, Paik NS, Kim SC, Huh J.
    Breast Cancer; 2019 Jul 21; 26(4):510-519. PubMed ID: 30725392
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  • 11. 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 21; 54(11):721-731. PubMed ID: 28866612
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  • 12. 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
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  • 13. Reclassification of BRCA1 and BRCA2 variants of uncertain significance: a multifactorial analysis of multicentre prospective cohort.
    Lee JS, Oh S, Park SK, Lee MH, Lee JW, Kim SW, Son BH, Noh DY, Lee JE, Park HL, Kim MJ, Cho SI, Lee YK, Park SS, Seong MW.
    J Med Genet; 2018 Dec 20; 55(12):794-802. PubMed ID: 30415210
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  • 14. 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 Dec 20; 18(5):518-24. PubMed ID: 23615697
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  • 15. Functional characterization of 84 PALB2 variants of uncertain significance.
    Wiltshire T, Ducy M, Foo TK, Hu C, Lee KY, Belur Nagaraj A, Rodrigue A, Gomes TT, Simard J, Monteiro ANA, Xia B, Carvalho MA, Masson JY, Couch FJ.
    Genet Med; 2020 Mar 20; 22(3):622-632. PubMed ID: 31636395
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  • 16. 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
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  • 17. Validation and Data-Integration of Yeast-Based Assays for Functional Classification of BRCA1 Missense Variants.
    Bellè F, Mercatanti A, Lodovichi S, Congregati C, Guglielmi C, Tancredi M, Caligo MA, Cervelli T, Galli A.
    Int J Mol Sci; 2022 Apr 06; 23(7):. PubMed ID: 35409408
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  • 18. A review of a multifactorial probability-based model for classification of BRCA1 and BRCA2 variants of uncertain significance (VUS).
    Lindor NM, Guidugli L, Wang X, Vallée MP, Monteiro AN, Tavtigian S, Goldgar DE, Couch FJ.
    Hum Mutat; 2012 Jan 06; 33(1):8-21. PubMed ID: 21990134
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  • 19. 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 06; 50(2):74-9. PubMed ID: 23231788
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  • 20. BRCA1 and BRCA2 unclassified variants and missense polymorphisms in Algerian breast/ovarian cancer families.
    Cherbal F, Salhi N, Bakour R, Adane S, Boualga K, Maillet P.
    Dis Markers; 2012 Feb 06; 32(6):343-53. PubMed ID: 22684231
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