321 related articles for article (PubMed ID: 22505045)
1. Guidelines for splicing analysis in molecular diagnosis derived from a set of 327 combined in silico/in vitro studies on BRCA1 and BRCA2 variants.
Houdayer C; Caux-Moncoutier V; Krieger S; Barrois M; Bonnet F; Bourdon V; Bronner M; Buisson M; Coulet F; Gaildrat P; Lefol C; Léone M; Mazoyer S; Muller D; Remenieras A; Révillion F; Rouleau E; Sokolowska J; Vert JP; Lidereau R; Soubrier F; Sobol H; Sevenet N; Bressac-de Paillerets B; Hardouin A; Tosi M; Sinilnikova OM; Stoppa-Lyonnet D
Hum Mutat; 2012 Aug; 33(8):1228-38. PubMed ID: 22505045
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. Evaluation of in silico splice tools for decision-making in molecular diagnosis.
Houdayer C; Dehainault C; Mattler C; Michaux D; Caux-Moncoutier V; Pagès-Berhouet S; d'Enghien CD; Laugé A; Castera L; Gauthier-Villars M; Stoppa-Lyonnet D
Hum Mutat; 2008 Jul; 29(7):975-82. PubMed ID: 18449911
[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. 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]
6. 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]
7. 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]
8. 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]
9. 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]
10. 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]
11. Investigating the effect of 28 BRCA1 and BRCA2 mutations on their related transcribed mRNA.
Quiles F; Menéndez M; Tornero E; del Valle J; Teulé À; Palanca S; Izquierdo A; Gómez C; Campos O; Santamaria R; Brunet J; Capellá G; Feliubadaló L; Lázaro C
Breast Cancer Res Treat; 2016 Jan; 155(2):253-60. PubMed ID: 26780556
[TBL] [Abstract][Full Text] [Related]
12. Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effort.
Leman R; Gaildrat P; Le Gac G; Ka C; Fichou Y; Audrezet MP; Caux-Moncoutier V; Caputo SM; Boutry-Kryza N; Léone M; Mazoyer S; Bonnet-Dorion F; Sevenet N; Guillaud-Bataille M; Rouleau E; Bressac-de Paillerets B; Wappenschmidt B; Rossing M; Muller D; Bourdon V; Revillon F; Parsons MT; Rousselin A; Davy G; Castelain G; Castéra L; Sokolowska J; Coulet F; Delnatte C; Férec C; Spurdle AB; Martins A; Krieger S; Houdayer C
Nucleic Acids Res; 2018 Sep; 46(15):7913-7923. PubMed ID: 29750258
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. 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]
15. 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]
16. Adding In Silico Assessment of Potential Splice Aberration to the Integrated Evaluation of BRCA Gene Unclassified Variants.
Vallée MP; Di Sera TL; Nix DA; Paquette AM; Parsons MT; Bell R; Hoffman A; Hogervorst FB; Goldgar DE; Spurdle AB; Tavtigian SV
Hum Mutat; 2016 Jul; 37(7):627-39. PubMed ID: 26913838
[TBL] [Abstract][Full Text] [Related]
17. Functional evaluation of BRCA1/2 variants of unknown significance with homologous recombination assay and integrative in silico prediction model.
Guo Q; Ji S; Takeuchi K; Urasaki W; Suzuki A; Iwasaki Y; Saito H; Xu Z; Arai M; Nakamura S; Momozawa Y; Chiba N; Miki Y; Matsuura M; Sunada S
J Hum Genet; 2023 Dec; 68(12):849-857. PubMed ID: 37731132
[TBL] [Abstract][Full Text] [Related]
18. [Mutational analysis of BRCA1 and BRCA2 genes in early-onset breast cancer patients in Shanghai].
Song CG; Hu Z; Yuan WT; Di GH; Shen ZZ; Huang W; Shao ZM
Zhonghua Yi Xue Za Zhi; 2005 Nov; 85(43):3030-4. PubMed ID: 16324400
[TBL] [Abstract][Full Text] [Related]
19. Unclassified variants identified in BRCA1 exon 11: Consequences on splicing.
Anczuków O; Buisson M; Salles MJ; Triboulet S; Longy M; Lidereau R; Sinilnikova OM; Mazoyer S
Genes Chromosomes Cancer; 2008 May; 47(5):418-26. PubMed ID: 18273839
[TBL] [Abstract][Full Text] [Related]
20. Exonic Splicing Mutations Are More Prevalent than Currently Estimated and Can Be Predicted by Using In Silico Tools.
Soukarieh O; Gaildrat P; Hamieh M; Drouet A; Baert-Desurmont S; Frébourg T; Tosi M; Martins A
PLoS Genet; 2016 Jan; 12(1):e1005756. PubMed ID: 26761715
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
