BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

300 related articles for article (PubMed ID: 27060066)

  • 1. Naturally occurring BRCA2 alternative mRNA splicing events in clinically relevant samples.
    Fackenthal JD; Yoshimatsu T; Zhang B; de Garibay GR; Colombo M; De Vecchi G; Ayoub SC; Lal K; Olopade OI; Vega A; Santamariña M; Blanco A; Wappenschmidt B; Becker A; Houdayer C; Walker LC; López-Perolio I; Thomassen M; Parsons M; Whiley P; Blok MJ; Brandão RD; Tserpelis D; Baralle D; Montalban G; Gutiérrez-Enríquez S; Díez O; Lazaro C; ; Spurdle AB; Radice P; de la Hoya M
    J Med Genet; 2016 Aug; 53(8):548-58. PubMed ID: 27060066
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 3. 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]  

  • 4. Analysis of BRCA1 and BRCA2 alternative splicing in predisposition to ovarian cancer.
    Jasiak A; Koczkowska M; Stukan M; Wydra D; Biernat W; Izycka-Swieszewska E; Buczkowski K; Eccles MR; Walker L; Wasag B; Ratajska M
    Exp Mol Pathol; 2023 Apr; 130():104856. PubMed ID: 36791903
    [TBL] [Abstract][Full Text] [Related]  

  • 5. A high proportion of DNA variants of BRCA1 and BRCA2 is associated with aberrant splicing in breast/ovarian cancer patients.
    Sanz DJ; Acedo A; Infante M; Durán M; Pérez-Cabornero L; Esteban-Cardeñosa E; Lastra E; Pagani F; Miner C; Velasco EA
    Clin Cancer Res; 2010 Mar; 16(6):1957-67. PubMed ID: 20215541
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Comprehensive prediction of mRNA splicing effects of BRCA1 and BRCA2 variants.
    Mucaki EJ; Ainsworth P; Rogan PK
    Hum Mutat; 2011 Jul; 32(7):735-42. PubMed ID: 21523855
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Incorporation of semi-quantitative analysis of splicing alterations for the clinical interpretation of variants in BRCA1 and BRCA2 genes.
    Montalban G; Bonache S; Moles-Fernández A; Gadea N; Tenés A; Torres-Esquius S; Carrasco E; Balmaña J; Diez O; Gutiérrez-Enríquez S
    Hum Mutat; 2019 Dec; 40(12):2296-2317. PubMed ID: 31343793
    [TBL] [Abstract][Full Text] [Related]  

  • 8. A specific GFP expression assay, penetrance estimate, and histological assessment for a putative splice site mutation in BRCA1.
    Southey MC; Tesoriero A; Young MA; Holloway AJ; Jenkins MA; Whitty J; Misfud S; kConFab ; McLachlan SA; Venter DJ; Armes JE
    Hum Mutat; 2003 Jul; 22(1):86-91. PubMed ID: 12815598
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Functional classification of DNA variants by hybrid minigenes: Identification of 30 spliceogenic variants of BRCA2 exons 17 and 18.
    Fraile-Bethencourt E; Díez-Gómez B; Velásquez-Zapata V; Acedo A; Sanz DJ; Velasco EA
    PLoS Genet; 2017 Mar; 13(3):e1006691. PubMed ID: 28339459
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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]  

  • 11. Differentiating pathogenic mutations from polymorphic alterations in the splice sites of BRCA1 and BRCA2.
    Claes K; Poppe B; Machackova E; Coene I; Foretova L; De Paepe A; Messiaen L
    Genes Chromosomes Cancer; 2003 Jul; 37(3):314-20. PubMed ID: 12759930
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Targeted RNA-seq successfully identifies normal and pathogenic splicing events in breast/ovarian cancer susceptibility and Lynch syndrome genes.
    Brandão RD; Mensaert K; López-Perolio I; Tserpelis D; Xenakis M; Lattimore V; Walker LC; Kvist A; Vega A; Gutiérrez-Enríquez S; Díez O; ; de la Hoya M; Spurdle AB; De Meyer T; Blok MJ
    Int J Cancer; 2019 Jul; 145(2):401-414. PubMed ID: 30623411
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Comparison of mRNA splicing assay protocols across multiple laboratories: recommendations for best practice in standardized clinical testing.
    Whiley PJ; de la Hoya M; Thomassen M; Becker A; Brandão R; Pedersen IS; Montagna M; Menéndez M; Quiles F; Gutiérrez-Enríquez S; De Leeneer K; Tenés A; Montalban G; Tserpelis D; Yoshimatsu T; Tirapo C; Raponi M; Caldes T; Blanco A; Santamariña M; Guidugli L; de Garibay GR; Wong M; Tancredi M; Fachal L; Ding YC; Kruse T; Lattimore V; Kwong A; Chan TL; Colombo M; De Vecchi G; Caligo M; Baralle D; Lázaro C; Couch F; Radice P; Southey MC; Neuhausen S; Houdayer C; Fackenthal J; Hansen TV; Vega A; Diez O; Blok R; Claes K; Wappenschmidt B; Walker L; Spurdle AB; Brown MA;
    Clin Chem; 2014 Feb; 60(2):341-52. PubMed ID: 24212087
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Two mutations of BRCA2 gene at exon and splicing site in a woman who underwent oncogenetic counseling.
    Pensabene M; Spagnoletti I; Capuano I; Condello C; Pepe S; Contegiacomo A; Lombardi G; Bevilacqua G; Caligo MA
    Ann Oncol; 2009 May; 20(5):874-8. PubMed ID: 19179552
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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]  

  • 16. Differences in the frequency and distribution of BRCA1 and BRCA2 mutations in breast/ovarian cancer cases from the Basque country with respect to the Spanish population: implications for genetic counselling.
    Beristain E; Martínez-Bouzas C; Guerra I; Viguera N; Moreno J; Ibañez E; Díez J; Rodríguez F; Mallabiabarrena G; Luján S; Gorostiaga J; De Pablo JL; Mendizabal JL; Tejada MI
    Breast Cancer Res Treat; 2007 Dec; 106(2):255-62. PubMed ID: 17262179
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Characterization of three alternative transcripts of the BRCA1 gene in patients with breast cancer and a family history of breast and/or ovarian cancer who tested negative for pathogenic mutations.
    Gambino G; Tancredi M; Falaschi E; Aretini P; Caligo MA
    Int J Mol Med; 2015 Apr; 35(4):950-6. PubMed ID: 25683334
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Intronic variants in BRCA1 and BRCA2 that affect RNA splicing can be reliably selected by splice-site prediction programs.
    Vreeswijk MP; Kraan JN; van der Klift HM; Vink GR; Cornelisse CJ; Wijnen JT; Bakker E; van Asperen CJ; Devilee P
    Hum Mutat; 2009 Jan; 30(1):107-14. PubMed ID: 18693280
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Quantifying
    Lattimore VL; Pearson JF; Morley-Bunker AE; ; Spurdle AB; Robinson BA; Currie MJ; Walker LC
    Int J Mol Sci; 2019 Feb; 20(3):. PubMed ID: 30736279
    [No Abstract]   [Full Text] [Related]  

  • 20. Contribution of bioinformatics predictions and functional splicing assays to the interpretation of unclassified variants of the BRCA genes.
    Théry JC; Krieger S; Gaildrat P; Révillion F; Buisine MP; Killian A; Duponchel C; Rousselin A; Vaur D; Peyrat JP; Berthet P; Frébourg T; Martins A; Hardouin A; Tosi M
    Eur J Hum Genet; 2011 Oct; 19(10):1052-8. PubMed ID: 21673748
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 15.