167 related articles for article (PubMed ID: 28919163)
1. Multiplex PCR and NGS-based identification of mRNA splicing variants: Analysis of BRCA1 splicing pattern as a model.
Hojny J; Zemankova P; Lhota F; Sevcik J; Stranecky V; Hartmannova H; Hodanova K; Mestak O; Pavlista D; Janatova M; Soukupova J; Vocka M; Kleibl Z; Kleiblova P
Gene; 2017 Dec; 637():41-49. PubMed ID: 28919163
[TBL] [Abstract][Full Text] [Related]
2. Somatic mRNA Analysis of BRCA1 Splice Variants Provides a Direct Theranostic Impact on PARP Inhibitors.
Chevalier LM; Billaud A; Fronteau S; Dauvé J; Patsouris A; Verriele V; Morel A
Mol Diagn Ther; 2020 Apr; 24(2):233-243. PubMed ID: 32124385
[TBL] [Abstract][Full Text] [Related]
3. 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]
4. 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]
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 annotation of splice junctions supports pervasive alternative splicing at the BRCA1 locus: a report from the ENIGMA consortium.
Colombo M; Blok MJ; Whiley P; Santamariña M; Gutiérrez-Enríquez S; Romero A; Garre P; Becker A; Smith LD; De Vecchi G; Brandão RD; Tserpelis D; Brown M; Blanco A; Bonache S; Menéndez M; Houdayer C; Foglia C; Fackenthal JD; Baralle D; Wappenschmidt B; ; Díaz-Rubio E; Caldés T; Walker L; Díez O; Vega A; Spurdle AB; Radice P; De La Hoya M
Hum Mol Genet; 2014 Jul; 23(14):3666-80. PubMed ID: 24569164
[TBL] [Abstract][Full Text] [Related]
7. The molecular analysis of BRCA1 and BRCA2: Next-generation sequencing supersedes conventional approaches.
D'Argenio V; Esposito MV; Telese A; Precone V; Starnone F; Nunziato M; Cantiello P; Iorio M; Evangelista E; D'Aiuto M; Calabrese A; Frisso G; D'Aiuto G; Salvatore F
Clin Chim Acta; 2015 Jun; 446():221-5. PubMed ID: 25896959
[TBL] [Abstract][Full Text] [Related]
8. Amplification of overlapping DNA amplicons in a single-tube multiplex PCR for targeted next-generation sequencing of BRCA1 and BRCA2.
Schenk D; Song G; Ke Y; Wang Z
PLoS One; 2017; 12(7):e0181062. PubMed ID: 28704513
[TBL] [Abstract][Full Text] [Related]
9. Identification of novel HNF1B mRNA splicing variants and their qualitative and semi-quantitative profile in selected healthy and tumour tissues.
Hojny J; Bartu M; Krkavcova E; Nemejcova K; Sevcik J; Cibula D; Fryba V; Plincelnerova L; Dundr P; Struzinska I
Sci Rep; 2020 Apr; 10(1):6958. PubMed ID: 32332782
[TBL] [Abstract][Full Text] [Related]
10. Detection of genomic variations in BRCA1 and BRCA2 genes by long-range PCR and next-generation sequencing.
Hernan I; Borràs E; de Sousa Dias M; Gamundi MJ; Mañé B; Llort G; Agúndez JA; Blanca M; Carballo M
J Mol Diagn; 2012; 14(3):286-93. PubMed ID: 22426013
[TBL] [Abstract][Full Text] [Related]
11. Evaluation of the Ion Torrent PGM sequencing workflow for the routine rapid detection of BRCA1 and BRCA2 germline mutations.
Zanella I; Merola F; Biasiotto G; Archetti S; Spinelli E; Di Lorenzo D
Exp Mol Pathol; 2017 Apr; 102(2):314-320. PubMed ID: 28263838
[TBL] [Abstract][Full Text] [Related]
12. Clinical Next-Generation Sequencing Pipeline Outperforms a Combined Approach Using Sanger Sequencing and Multiplex Ligation-Dependent Probe Amplification in Targeted Gene Panel Analysis.
Schenkel LC; Kerkhof J; Stuart A; Reilly J; Eng B; Woodside C; Levstik A; Howlett CJ; Rupar AC; Knoll JHM; Ainsworth P; Waye JS; Sadikovic B
J Mol Diagn; 2016 Sep; 18(5):657-667. PubMed ID: 27376475
[TBL] [Abstract][Full Text] [Related]
13. A new alternative splice variant of BRCA1 containing an additional in-frame exon.
Fortin J; Moisan AM; Dumont M; Leblanc G; Labrie Y; Durocher F; Bessette P; Bridge P; Chiquette J; Laframboise R; Lépine J; Lespérance B; Pichette R; Plante M; Provencher L; Voyer P; Simard J
Biochim Biophys Acta; 2005 Oct; 1731(1):57-65. PubMed ID: 16185777
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. Nanopore sequencing of full-length BRCA1 mRNA transcripts reveals co-occurrence of known exon skipping events.
de Jong LC; Cree S; Lattimore V; Wiggins GAR; Spurdle AB; ; Miller A; Kennedy MA; Walker LC
Breast Cancer Res; 2017 Nov; 19(1):127. PubMed ID: 29183387
[TBL] [Abstract][Full Text] [Related]
16. Expression of human BRCA1Δ17-19 alternative splicing variant with a truncated BRCT domain in MCF-7 cells results in impaired assembly of DNA repair complexes and aberrant DNA damage response.
Sevcik J; Falk M; Macurek L; Kleiblova P; Lhota F; Hojny J; Stefancikova L; Janatova M; Bartek J; Stribrna J; Hodny Z; Jezkova L; Pohlreich P; Kleibl Z
Cell Signal; 2013 May; 25(5):1186-93. PubMed ID: 23416467
[TBL] [Abstract][Full Text] [Related]
17. Mutations and alternative splicing of the BRCA1 gene in UK breast/ovarian cancer families.
Xu CF; Chambers JA; Nicolai H; Brown MA; Hujeirat Y; Mohammed S; Hodgson S; Kelsell DP; Spurr NK; Bishop DT; Solomon E
Genes Chromosomes Cancer; 1997 Feb; 18(2):102-10. PubMed ID: 9115959
[TBL] [Abstract][Full Text] [Related]
18. Frequency of mutations in individuals with breast cancer referred for BRCA1 and BRCA2 testing using next-generation sequencing with a 25-gene panel.
Tung N; Battelli C; Allen B; Kaldate R; Bhatnagar S; Bowles K; Timms K; Garber JE; Herold C; Ellisen L; Krejdovsky J; DeLeonardis K; Sedgwick K; Soltis K; Roa B; Wenstrup RJ; Hartman AR
Cancer; 2015 Jan; 121(1):25-33. PubMed ID: 25186627
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. 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]
[Next] [New Search]