BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

230 related articles for article (PubMed ID: 27008870)

  • 1. Combined genetic and splicing analysis of BRCA1 c.[594-2A>C; 641A>G] highlights the relevance of naturally occurring in-frame transcripts for developing disease gene variant classification algorithms.
    de la Hoya M; Soukarieh O; López-Perolio I; Vega A; Walker LC; van Ierland Y; Baralle D; Santamariña M; Lattimore V; Wijnen J; Whiley P; Blanco A; Raponi M; Hauke J; Wappenschmidt B; Becker A; Hansen TV; Behar R; Investigators K; Niederacher D; Arnold N; Dworniczak B; Steinemann D; Faust U; Rubinstein W; Hulick PJ; Houdayer C; Caputo SM; Castera L; Pesaran T; Chao E; Brewer C; Southey MC; van Asperen CJ; Singer CF; Sullivan J; Poplawski N; Mai P; Peto J; Johnson N; Burwinkel B; Surowy H; Bojesen SE; Flyger H; Lindblom A; Margolin S; Chang-Claude J; Rudolph A; Radice P; Galastri L; Olson JE; Hallberg E; Giles GG; Milne RL; Andrulis IL; Glendon G; Hall P; Czene K; Blows F; Shah M; Wang Q; Dennis J; Michailidou K; McGuffog L; Bolla MK; Antoniou AC; Easton DF; Couch FJ; Tavtigian S; Vreeswijk MP; Parsons M; Meeks HD; Martins A; Goldgar DE; Spurdle AB
    Hum Mol Genet; 2016 Jun; 25(11):2256-2268. PubMed ID: 27008870
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 3. The BRCA1 c.5434C->G (p.Pro1812Ala) variant induces a deleterious exon 23 skipping by affecting exonic splicing regulatory elements.
    Gaildrat P; Krieger S; Théry JC; Killian A; Rousselin A; Berthet P; Frébourg T; Hardouin A; Martins A; Tosi M
    J Med Genet; 2010 Jun; 47(6):398-403. PubMed ID: 20522429
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Analysis of 30 putative BRCA1 splicing mutations in hereditary breast and ovarian cancer families identifies exonic splice site mutations that escape in silico prediction.
    Wappenschmidt B; Becker AA; Hauke J; Weber U; Engert S; Köhler J; Kast K; Arnold N; Rhiem K; Hahnen E; Meindl A; Schmutzler RK
    PLoS One; 2012; 7(12):e50800. PubMed ID: 23239986
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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]  

  • 6. The c.5242C>A BRCA1 missense variant induces exon skipping by increasing splicing repressors binding.
    Millevoi S; Bernat S; Telly D; Fouque F; Gladieff L; Favre G; Vagner S; Toulas C
    Breast Cancer Res Treat; 2010 Apr; 120(2):391-9. PubMed ID: 19404736
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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]  

  • 8. Characterisation of unclassified variants in the BRCA1/2 genes with a putative effect on splicing.
    Brandão RD; van Roozendaal K; Tserpelis D; Gómez García E; Blok MJ
    Breast Cancer Res Treat; 2011 Oct; 129(3):971-82. PubMed ID: 21638052
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Bayes analysis provides evidence of pathogenicity for the BRCA1 c.135-1G>T (IVS3-1) and BRCA2 c.7977-1G>C (IVS17-1) variants displaying in vitro splicing results of equivocal clinical significance.
    Spurdle AB; Lakhani SR; Da Silva LM; Balleine RL; ; Goldgar DE
    Hum Mutat; 2010 Feb; 31(2):E1141-5. PubMed ID: 20020529
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Characterization of a novel germline BRCA1 splice variant, c.5332+4delA.
    Yang C; Jairam S; Amoroso KA; Robson ME; Walsh MF; Zhang L
    Breast Cancer Res Treat; 2018 Apr; 168(2):543-550. PubMed ID: 29185120
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. Splicing predictions, minigene analyses, and ACMG-AMP clinical classification of 42 germline PALB2 splice-site variants.
    Valenzuela-Palomo A; Bueno-Martínez E; Sanoguera-Miralles L; Lorca V; Fraile-Bethencourt E; Esteban-Sánchez A; Gómez-Barrero S; Carvalho S; Allen J; García-Álvarez A; Pérez-Segura P; Dorling L; Easton DF; Devilee P; Vreeswijk MP; de la Hoya M; Velasco EA
    J Pathol; 2022 Mar; 256(3):321-334. PubMed ID: 34846068
    [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. 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]  

  • 15. Systematic Minigene-Based Splicing Analysis and Tentative Clinical Classification of 52 CHEK2 Splice-Site Variants.
    Sanoguera-Miralles L; Valenzuela-Palomo A; Bueno-Martínez E; Esteban-Sánchez A; Lorca V; Llinares-Burguet I; García-Álvarez A; Pérez-Segura P; Infante M; Easton DF; Devilee P; Vreeswijk MPG; de la Hoya M; Velasco-Sampedro EA
    Clin Chem; 2024 Jan; 70(1):319-338. PubMed ID: 37725924
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Novel BRCA1 splice-site mutation in ovarian cancer patients of Slavic origin.
    Krivokuca A; Dragos VS; Stamatovic L; Blatnik A; Boljevic I; Stegel V; Rakobradovic J; Skerl P; Jovandic S; Krajc M; Magic MB; Novakovic S
    Fam Cancer; 2018 Apr; 17(2):179-185. PubMed ID: 28685474
    [TBL] [Abstract][Full Text] [Related]  

  • 17. RNA analysis reveals splicing mutations and loss of expression defects in MLH1 and BRCA1.
    Sharp A; Pichert G; Lucassen A; Eccles D
    Hum Mutat; 2004 Sep; 24(3):272. PubMed ID: 15300854
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 19. Spectrum and characterisation of BRCA1 and BRCA2 deleterious mutations in high-risk Czech patients with breast and/or ovarian cancer.
    Machackova E; Foretova L; Lukesova M; Vasickova P; Navratilova M; Coene I; Pavlu H; Kosinova V; Kuklova J; Claes K
    BMC Cancer; 2008 May; 8():140. PubMed ID: 18489799
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Molecular characterization and cancer risk associated with BRCA1 and BRCA2 splice site variants identified in multiple-case breast cancer families.
    Tesoriero AA; Wong EM; Jenkins MA; Hopper JL; Brown MA; Chenevix-Trench G; Spurdle AB; Southey MC;
    Hum Mutat; 2005 Nov; 26(5):495. PubMed ID: 16211554
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 12.