1004 related articles for article (PubMed ID: 28339459)
1. 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]
2. 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]
3. Minigene Splicing Assays Identify 12 Spliceogenic Variants of
Fraile-Bethencourt E; Valenzuela-Palomo A; Díez-Gómez B; Caloca MJ; Gómez-Barrero S; Velasco EA
Front Genet; 2019; 10():503. PubMed ID: 31191615
[TBL] [Abstract][Full Text] [Related]
4. Identification of Eight Spliceogenic Variants in BRCA2 Exon 16 by Minigene Assays.
Fraile-Bethencourt E; Valenzuela-Palomo A; Díez-Gómez B; Acedo A; Velasco EA
Front Genet; 2018; 9():188. PubMed ID: 29881398
[TBL] [Abstract][Full Text] [Related]
5. Functional classification of BRCA2 DNA variants by splicing assays in a large minigene with 9 exons.
Acedo A; Hernández-Moro C; Curiel-García Á; Díez-Gómez B; Velasco EA
Hum Mutat; 2015 Feb; 36(2):210-21. PubMed ID: 25382762
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. 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]
8. Comprehensive splicing functional analysis of DNA variants of the BRCA2 gene by hybrid minigenes.
Acedo A; Sanz DJ; Durán M; Infante M; Pérez-Cabornero L; Miner C; Velasco EA
Breast Cancer Res; 2012 May; 14(3):R87. PubMed ID: 22632462
[TBL] [Abstract][Full Text] [Related]
9. Screening BRCA1 and BRCA2 unclassified variants for splicing mutations using reverse transcription PCR on patient RNA and an ex vivo assay based on a splicing reporter minigene.
Bonnet C; Krieger S; Vezain M; Rousselin A; Tournier I; Martins A; Berthet P; Chevrier A; Dugast C; Layet V; Rossi A; Lidereau R; Frébourg T; Hardouin A; Tosi M
J Med Genet; 2008 Jul; 45(7):438-46. PubMed ID: 18424508
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. Comprehensive splicing analysis of the alternatively spliced CHEK2 exons 8 and 10 reveals three enhancer/silencer-rich regions and 38 spliceogenic variants.
Sanoguera-Miralles L; Llinares-Burguet I; Bueno-Martínez E; Ramadane-Morchadi L; Stuani C; Valenzuela-Palomo A; García-Álvarez A; Pérez-Segura P; Buratti E; de la Hoya M; Velasco-Sampedro EA
J Pathol; 2024 Apr; 262(4):395-409. PubMed ID: 38332730
[TBL] [Abstract][Full Text] [Related]
12. 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]
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. 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]
15. Comprehensive Functional Characterization and Clinical Interpretation of 20 Splice-Site Variants of the
Sanoguera-Miralles L; Valenzuela-Palomo A; Bueno-Martínez E; Llovet P; Díez-Gómez B; Caloca MJ; Pérez-Segura P; Fraile-Bethencourt E; Colmena M; Carvalho S; Allen J; Easton DF; Devilee P; Vreeswijk MPG; de la Hoya M; Velasco EA
Cancers (Basel); 2020 Dec; 12(12):. PubMed ID: 33333735
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. 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]
18. Multiple sequence variants of BRCA2 exon 7 alter splicing regulation.
Gaildrat P; Krieger S; Di Giacomo D; Abdat J; Révillion F; Caputo S; Vaur D; Jamard E; Bohers E; Ledemeney D; Peyrat JP; Houdayer C; Rouleau E; Lidereau R; Frébourg T; Hardouin A; Tosi M; Martins A
J Med Genet; 2012 Oct; 49(10):609-17. PubMed ID: 22962691
[TBL] [Abstract][Full Text] [Related]
19. Reclassifying BRCA1 c.4358-2A > G and BRCA2 c.475 + 5G > C variants from "Uncertain Significance" to "Pathogenic" based on minigene assays and clinical evidence.
Ning Y; Zhang Y; Tian T; Chen Y; Wang J; Lei K; Cui Z
J Cancer Res Clin Oncol; 2024 Feb; 150(2):62. PubMed ID: 38300310
[TBL] [Abstract][Full Text] [Related]
20. Functional analysis of a large set of BRCA2 exon 7 variants highlights the predictive value of hexamer scores in detecting alterations of exonic splicing regulatory elements.
Di Giacomo D; Gaildrat P; Abuli A; Abdat J; Frébourg T; Tosi M; Martins A
Hum Mutat; 2013 Nov; 34(11):1547-57. PubMed ID: 23983145
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
