318 related articles for article (PubMed ID: 21394826)
1. Splicing and multifactorial analysis of intronic BRCA1 and BRCA2 sequence variants identifies clinically significant splicing aberrations up to 12 nucleotides from the intron/exon boundary.
Whiley PJ; Guidugli L; Walker LC; Healey S; Thompson BA; Lakhani SR; Da Silva LM; ; Tavtigian SV; Goldgar DE; Brown MA; Couch FJ; Spurdle AB
Hum Mutat; 2011 Jun; 32(6):678-87. PubMed ID: 21394826
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. 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]
4. 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]
5. Multifactorial likelihood assessment of BRCA1 and BRCA2 missense variants confirms that BRCA1:c.122A>G(p.His41Arg) is a pathogenic mutation.
Whiley PJ; Parsons MT; Leary J; Tucker K; Warwick L; Dopita B; Thorne H; Lakhani SR; Goldgar DE; Brown MA; Spurdle AB
PLoS One; 2014; 9(1):e86836. PubMed ID: 24489791
[TBL] [Abstract][Full Text] [Related]
6. Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification.
Parsons MT; Tudini E; Li H; Hahnen E; Wappenschmidt B; Feliubadaló L; Aalfs CM; Agata S; Aittomäki K; Alducci E; Alonso-Cerezo MC; Arnold N; Auber B; Austin R; Azzollini J; Balmaña J; Barbieri E; Bartram CR; Blanco A; Blümcke B; Bonache S; Bonanni B; Borg Å; Bortesi B; Brunet J; Bruzzone C; Bucksch K; Cagnoli G; Caldés T; Caliebe A; Caligo MA; Calvello M; Capone GL; Caputo SM; Carnevali I; Carrasco E; Caux-Moncoutier V; Cavalli P; Cini G; Clarke EM; Concolino P; Cops EJ; Cortesi L; Couch FJ; Darder E; de la Hoya M; Dean M; Debatin I; Del Valle J; Delnatte C; Derive N; Diez O; Ditsch N; Domchek SM; Dutrannoy V; Eccles DM; Ehrencrona H; Enders U; Evans DG; Farra C; Faust U; Felbor U; Feroce I; Fine M; Foulkes WD; Galvao HCR; Gambino G; Gehrig A; Gensini F; Gerdes AM; Germani A; Giesecke J; Gismondi V; Gómez C; Gómez Garcia EB; González S; Grau E; Grill S; Gross E; Guerrieri-Gonzaga A; Guillaud-Bataille M; Gutiérrez-Enríquez S; Haaf T; Hackmann K; Hansen TVO; Harris M; Hauke J; Heinrich T; Hellebrand H; Herold KN; Honisch E; Horvath J; Houdayer C; Hübbel V; Iglesias S; Izquierdo A; James PA; Janssen LAM; Jeschke U; Kaulfuß S; Keupp K; Kiechle M; Kölbl A; Krieger S; Kruse TA; Kvist A; Lalloo F; Larsen M; Lattimore VL; Lautrup C; Ledig S; Leinert E; Lewis AL; Lim J; Loeffler M; López-Fernández A; Lucci-Cordisco E; Maass N; Manoukian S; Marabelli M; Matricardi L; Meindl A; Michelli RD; Moghadasi S; Moles-Fernández A; Montagna M; Montalban G; Monteiro AN; Montes E; Mori L; Moserle L; Müller CR; Mundhenke C; Naldi N; Nathanson KL; Navarro M; Nevanlinna H; Nichols CB; Niederacher D; Nielsen HR; Ong KR; Pachter N; Palmero EI; Papi L; Pedersen IS; Peissel B; Perez-Segura P; Pfeifer K; Pineda M; Pohl-Rescigno E; Poplawski NK; Porfirio B; Quante AS; Ramser J; Reis RM; Revillion F; Rhiem K; Riboli B; Ritter J; Rivera D; Rofes P; Rump A; Salinas M; Sánchez de Abajo AM; Schmidt G; Schoenwiese U; Seggewiß J; Solanes A; Steinemann D; Stiller M; Stoppa-Lyonnet D; Sullivan KJ; Susman R; Sutter C; Tavtigian SV; Teo SH; Teulé A; Thomassen M; Tibiletti MG; Tischkowitz M; Tognazzo S; Toland AE; Tornero E; Törngren T; Torres-Esquius S; Toss A; Trainer AH; Tucker KM; van Asperen CJ; van Mackelenbergh MT; Varesco L; Vargas-Parra G; Varon R; Vega A; Velasco Á; Vesper AS; Viel A; Vreeswijk MPG; Wagner SA; Waha A; Walker LC; Walters RJ; Wang-Gohrke S; Weber BHF; Weichert W; Wieland K; Wiesmüller L; Witzel I; Wöckel A; Woodward ER; Zachariae S; Zampiga V; Zeder-Göß C; ; Lázaro C; De Nicolo A; Radice P; Engel C; Schmutzler RK; Goldgar DE; Spurdle AB
Hum Mutat; 2019 Sep; 40(9):1557-1578. PubMed ID: 31131967
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. 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]
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. Detection of splicing aberrations caused by BRCA1 and BRCA2 sequence variants encoding missense substitutions: implications for prediction of pathogenicity.
Walker LC; Whiley PJ; Couch FJ; Farrugia DJ; Healey S; Eccles DM; Lin F; Butler SA; Goff SA; Thompson BA; Lakhani SR; Da Silva LM; ; Tavtigian SV; Goldgar DE; Brown MA; Spurdle AB
Hum Mutat; 2010 Jun; 31(6):E1484-505. PubMed ID: 20513136
[TBL] [Abstract][Full Text] [Related]
11. Screening of
Montalban G; Bonache S; Moles-Fernández A; Gisbert-Beamud A; Tenés A; Bach V; Carrasco E; López-Fernández A; Stjepanovic N; Balmaña J; Diez O; Gutiérrez-Enríquez S
J Med Genet; 2019 Feb; 56(2):63-74. PubMed ID: 30472649
[TBL] [Abstract][Full Text] [Related]
12. Characterization of spliceogenic variants located in regions linked to high levels of alternative splicing: BRCA2 c.7976+5G > T as a case study.
Montalban G; Fraile-Bethencourt E; López-Perolio I; Pérez-Segura P; Infante M; Durán M; Alonso-Cerezo MC; López-Fernández A; Diez O; de la Hoya M; Velasco EA; Gutiérrez-Enríquez S
Hum Mutat; 2018 Sep; 39(9):1155-1160. PubMed ID: 29969168
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. 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]
15. 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]
16. 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; 32(6):343-53. PubMed ID: 22684231
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. Effect of BRCA2 sequence variants predicted to disrupt exonic splice enhancers on BRCA2 transcripts.
Whiley PJ; Pettigrew CA; Brewster BL; Walker LC; ; Spurdle AB; Brown MA
BMC Med Genet; 2010 May; 11():80. PubMed ID: 20507642
[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. Mis-splicing in breast cancer: identification of pathogenic BRCA2 variants by systematic minigene assays.
Fraile-Bethencourt E; Valenzuela-Palomo A; Díez-Gómez B; Goina E; Acedo A; Buratti E; Velasco EA
J Pathol; 2019 Aug; 248(4):409-420. PubMed ID: 30883759
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
