BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

515 related articles for article (PubMed ID: 29394989)

  • 1. Assessment of the Clinical Relevance of BRCA2 Missense Variants by Functional and Computational Approaches.
    Guidugli L; Shimelis H; Masica DL; Pankratz VS; Lipton GB; Singh N; Hu C; Monteiro ANA; Lindor NM; Goldgar DE; Karchin R; Iversen ES; Couch FJ
    Am J Hum Genet; 2018 Feb; 102(2):233-248. PubMed ID: 29394989
    [TBL] [Abstract][Full Text] [Related]  

  • 2. A classification model for BRCA2 DNA binding domain missense variants based on homology-directed repair activity.
    Guidugli L; Pankratz VS; Singh N; Thompson J; Erding CA; Engel C; Schmutzler R; Domchek S; Nathanson K; Radice P; Singer C; Tonin PN; Lindor NM; Goldgar DE; Couch FJ
    Cancer Res; 2013 Jan; 73(1):265-75. PubMed ID: 23108138
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Classification of BRCA2 Variants of Uncertain Significance (VUS) Using an ACMG/AMP Model Incorporating a Homology-Directed Repair (HDR) Functional Assay.
    Hu C; Susswein LR; Roberts ME; Yang H; Marshall ML; Hiraki S; Berkofsky-Fessler W; Gupta S; Shen W; Dunn CA; Huang H; Na J; Domchek SM; Yadav S; Monteiro ANA; Polley EC; Hart SN; Hruska KS; Couch FJ
    Clin Cancer Res; 2022 Sep; 28(17):3742-3751. PubMed ID: 35736817
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Functional analysis and clinical classification of 462 germline BRCA2 missense variants affecting the DNA binding domain.
    Hu C; Huang H; Na J; Lumby C; Abozaid M; Holdren MA; Rao TJ; Karam R; Pesaran T; Weyandt JD; Csuy CM; Seelaus CA; Young CC; Fulk K; Heidari Z; Morais Lyra PC; Couch RE; Persons B; Polley EC; Gnanaolivu RD; Boddicker NJ; Monteiro ANA; Yadav S; Domchek SM; Richardson ME; Couch FJ
    Am J Hum Genet; 2024 Mar; 111(3):584-593. PubMed ID: 38417439
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Comprehensive annotation of BRCA1 and BRCA2 missense variants by functionally validated sequence-based computational prediction models.
    Hart SN; Hoskin T; Shimelis H; Moore RM; Feng B; Thomas A; Lindor NM; Polley EC; Goldgar DE; Iversen E; Monteiro ANA; Suman VJ; Couch FJ
    Genet Med; 2019 Jan; 21(1):71-80. PubMed ID: 29884841
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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; 108(3):458-468. PubMed ID: 33609447
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Performance of in silico prediction tools for the classification of rare BRCA1/2 missense variants in clinical diagnostics.
    Ernst C; Hahnen E; Engel C; Nothnagel M; Weber J; Schmutzler RK; Hauke J
    BMC Med Genomics; 2018 Mar; 11(1):35. PubMed ID: 29580235
    [TBL] [Abstract][Full Text] [Related]  

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

  • 9. 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; 22(5):825-830. PubMed ID: 31911673
    [TBL] [Abstract][Full Text] [Related]  

  • 10.
    Khan MA; Varma AK
    J Biomol Struct Dyn; 2023 Nov; 41(19):9879-9889. PubMed ID: 36404616
    [TBL] [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; 50(2):74-9. PubMed ID: 23231788
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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; 54(11):721-731. PubMed ID: 28866612
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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; 145(2):451-60. PubMed ID: 24728577
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Curated multiple sequence alignment for the Adenomatous Polyposis Coli (APC) gene and accuracy of in silico pathogenicity predictions.
    Karabachev AD; Martini DJ; Hermel DJ; Solcz D; Richardson ME; Pesaran T; Sarkar IN; Greenblatt MS
    PLoS One; 2020; 15(8):e0233673. PubMed ID: 32750050
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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; 16(3):324-34. PubMed ID: 24607278
    [TBL] [Abstract][Full Text] [Related]  

  • 16. A Validated Functional Analysis of Partner and Localizer of BRCA2 Missense Variants for Use in Clinical Variant Interpretation.
    Brnich SE; Arteaga EC; Wang Y; Tan X; Berg JS
    J Mol Diagn; 2021 Jul; 23(7):847-864. PubMed ID: 33964450
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Functional evaluation of BRCA2 variants mapping to the PALB2-binding and C-terminal DNA-binding domains using a mouse ES cell-based assay.
    Biswas K; Das R; Eggington JM; Qiao H; North SL; Stauffer S; Burkett SS; Martin BK; Southon E; Sizemore SC; Pruss D; Bowles KR; Roa BB; Hunter N; Tessarollo L; Wenstrup RJ; Byrd RA; Sharan SK
    Hum Mol Genet; 2012 Sep; 21(18):3993-4006. PubMed ID: 22678057
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Functional assays for classification of BRCA2 variants of uncertain significance.
    Farrugia DJ; Agarwal MK; Pankratz VS; Deffenbaugh AM; Pruss D; Frye C; Wadum L; Johnson K; Mentlick J; Tavtigian SV; Goldgar DE; Couch FJ
    Cancer Res; 2008 May; 68(9):3523-31. PubMed ID: 18451181
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Functional assays for analysis of variants of uncertain significance in BRCA2.
    Guidugli L; Carreira A; Caputo SM; Ehlen A; Galli A; Monteiro AN; Neuhausen SL; Hansen TV; Couch FJ; Vreeswijk MP;
    Hum Mutat; 2014 Feb; 35(2):151-64. PubMed ID: 24323938
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Imprecise Medicine: BRCA2 Variants of Uncertain Significance (VUS), the Challenges and Benefits to Integrate a Functional Assay Workflow with Clinical Decision Rules.
    Jimenez-Sainz J; Jensen RB
    Genes (Basel); 2021 May; 12(5):. PubMed ID: 34065235
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 26.