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Items: 1 to 20 of 188

1.

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. doi: 10.1002/humu.22428. Epub 2013 Sep 18.

PMID:
23983145
2.

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. doi: 10.1136/jmedgenet-2012-100965. Epub 2012 Sep 7.

PMID:
22962691
3.

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. doi: 10.1038/ejhg.2011.100. Epub 2011 Jun 15.

4.

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 25;14(3):R87.

5.

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. doi: 10.1371/journal.pone.0050800. Epub 2012 Dec 11.

6.

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. doi: 10.1136/jmg.2007.056895. Epub 2008 Apr 18.

PMID:
18424508
7.

Defective pre-mRNA splicing in PKD1 due to presumed missense and synonymous mutations causing autosomal dominant polycystic disease.

Gonzalez-Paredes FJ, Ramos-Trujillo E, Claverie-Martin F.

Gene. 2014 Aug 10;546(2):243-9. doi: 10.1016/j.gene.2014.06.004. Epub 2014 Jun 4.

PMID:
24907393
8.

The BRCA1 c.5434C->G (p.Pro1812Ala) variant induces a deleterious exon 23 skipping by affecting exonic splicing regulatory elements.

Gaildrat P, Krieger S, Théry JC, Killian A, Rousselin A, Berthet P, Frébourg T, Hardouin A, Martins A, Tosi M.

J Med Genet. 2010 Jun;47(6):398-403. doi: 10.1136/jmg.2009.074047.

9.

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.

PMID:
12955719
10.

Effect of BRCA2 sequence variants predicted to disrupt exonic splice enhancers on BRCA2 transcripts.

Whiley PJ, Pettigrew CA, Brewster BL, Walker LC; kConFab Investigators, Spurdle AB, Brown MA.

BMC Med Genet. 2010 May 28;11:80. doi: 10.1186/1471-2350-11-80.

11.

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 13;12(1):e1005756. doi: 10.1371/journal.pgen.1005756. eCollection 2016 Jan. Erratum in: PLoS Genet. 2016 Apr;12(4):e1005971.

12.

Colocalisation of predicted exonic splicing enhancers in BRCA2 with reported sequence variants.

Pettigrew CA, Wayte N, Wronski A, Lovelock PK, Spurdle AB, Brown MA.

Breast Cancer Res Treat. 2008 Jul;110(2):227-34. Epub 2007 Sep 26.

PMID:
17899372
13.

Computational analysis of splicing errors and mutations in human transcripts.

Kurmangaliyev YZ, Gelfand MS.

BMC Genomics. 2008 Jan 14;9:13. doi: 10.1186/1471-2164-9-13.

15.

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. doi: 10.1002/humu.22725.

16.

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.

PMID:
16619214
17.

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. doi: 10.1002/humu.20811.

PMID:
18693280
18.

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. doi: 10.1007/s10549-011-1674-0. Epub 2011 Jul 19.

PMID:
21769658
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. doi: 10.1002/gcc.20546.

PMID:
18273839
20.

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. doi: 10.1002/humu.21513. Epub 2011 May 5.

PMID:
21523855

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