183 related articles for article (PubMed ID: 33469799)
1. Interpretation of BRCA2 Splicing Variants: A Case Series of Challenging Variant Interpretations and the Importance of Functional RNA Analysis.
Nix P; Mundt E; Coffee B; Goossen E; Warf BM; Brown K; Bowles K; Roa B
Fam Cancer; 2022 Jan; 21(1):7-19. PubMed ID: 33469799
[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. 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]
4. 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]
5. 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]
6. 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]
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. 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. Alternative mRNA splicing can attenuate the pathogenicity of presumed loss-of-function variants in BRCA2.
Mesman RLS; Calléja FMGR; de la Hoya M; Devilee P; van Asperen CJ; Vrieling H; Vreeswijk MPG
Genet Med; 2020 Aug; 22(8):1355-1365. PubMed ID: 32398771
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. 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]
12. 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]
13. 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]
14. 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]
15. 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]
16. 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]
17. 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]
18. 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]
19. 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]
20. 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]
[Next] [New Search]
