BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

317 related articles for article (PubMed ID: 23231788)

  • 1. 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]  

  • 2. 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]  

  • 3. 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]  

  • 4. 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]  

  • 5. BRCA1/2 missense mutations and the value of in-silico analyses.
    Sadowski CE; Kohlstedt D; Meisel C; Keller K; Becker K; Mackenroth L; Rump A; Schröck E; Wimberger P; Kast K
    Eur J Med Genet; 2017 Nov; 60(11):572-577. PubMed ID: 28807866
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Characterization of BRCA1 and BRCA2 splicing variants: a collaborative report by ENIGMA consortium members.
    Thomassen M; Blanco A; Montagna M; Hansen TV; Pedersen IS; Gutiérrez-Enríquez S; Menéndez M; Fachal L; Santamariña M; Steffensen AY; Jønson L; Agata S; Whiley P; Tognazzo S; Tornero E; Jensen UB; Balmaña J; Kruse TA; Goldgar DE; Lázaro C; Diez O; Spurdle AB; Vega A
    Breast Cancer Res Treat; 2012 Apr; 132(3):1009-23. PubMed ID: 21769658
    [TBL] [Abstract][Full Text] [Related]  

  • 7. In silico, in vitro and case-control analyses as an effective combination for analyzing BRCA1 and BRCA2 unclassified variants in a population-based sample.
    Rodríguez-Balada M; Roig B; Martorell L; Melé M; Salvat M; Vilella E; Borràs J; Gumà J
    Cancer Genet; 2016 Nov; 209(11):487-492. PubMed ID: 27886673
    [TBL] [Abstract][Full Text] [Related]  

  • 8. BRCA1 and BRCA2 genetic testing-pitfalls and recommendations for managing variants of uncertain clinical significance.
    Eccles DM; Mitchell G; Monteiro AN; Schmutzler R; Couch FJ; Spurdle AB; Gómez-García EB;
    Ann Oncol; 2015 Oct; 26(10):2057-65. PubMed ID: 26153499
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Challenges in periodic revision of genetic testing results: Comparison of the main classification guidelines and report of a retrospective analysis involving BRCA1/BRCA2 variants of uncertain significance.
    Andreis TF; de Souza KIW; Vieira IA; Alemar B; Sinigaglia M; de Araújo Rocha YM; Artigalás O; Bittar C; Oliveira Netto CB; Ashton-Prolla P; Rosset C
    Gene; 2023 Apr; 862():147281. PubMed ID: 36775216
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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]  

  • 11. Assessing the RNA effect of 26 DNA variants in the BRCA1 and BRCA2 genes.
    Menéndez M; Castellsagué J; Mirete M; Pros E; Feliubadaló L; Osorio A; Calaf M; Tornero E; del Valle J; Fernández-Rodríguez J; Quiles F; Salinas M; Velasco A; Teulé A; Brunet J; Blanco I; Capellá G; Lázaro C
    Breast Cancer Res Treat; 2012 Apr; 132(3):979-92. PubMed ID: 21735045
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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; 26(4):510-519. PubMed ID: 30725392
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Intronic alterations in BRCA1 and BRCA2: effect on mRNA splicing fidelity and expression.
    Chen X; Truong TT; Weaver J; Bove BA; Cattie K; Armstrong BA; Daly MB; Godwin AK
    Hum Mutat; 2006 May; 27(5):427-35. PubMed ID: 16619214
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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; 18(12):1250-1257. PubMed ID: 27124784
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Changes in classification of genetic variants in BRCA1 and BRCA2.
    Kast K; Wimberger P; Arnold N
    Arch Gynecol Obstet; 2018 Feb; 297(2):279-280. PubMed ID: 29302806
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. Prediction of BRCA2-association in hereditary breast carcinomas using array-CGH.
    Joosse SA; Brandwijk KI; Devilee P; Wesseling J; Hogervorst FB; Verhoef S; Nederlof PM
    Breast Cancer Res Treat; 2012 Apr; 132(2):379-89. PubMed ID: 20614180
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Reclassification of
    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; 55(12):794-802. PubMed ID: 30415210
    [TBL] [Abstract][Full Text] [Related]  

  • 19. RNA analysis of eight BRCA1 and BRCA2 unclassified variants identified in breast/ovarian cancer families from Spain.
    Campos B; Díez O; Domènech M; Baena M; Balmaña J; Sanz J; Ramírez A; Alonso C; Baiget M
    Hum Mutat; 2003 Oct; 22(4):337. PubMed ID: 12955719
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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; 18(5):518-24. PubMed ID: 23615697
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 16.