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Results: 1 to 20 of 97

1.

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; kConFab Investigators, Tavtigian SV, Goldgar DE, Brown MA, Spurdle AB.

Hum Mutat. 2010 Jun;31(6):E1484-505. doi: 10.1002/humu.21267.

PMID:
20513136
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

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
[PubMed - indexed for MEDLINE]
3.

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.

PMID:
20507642
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

Splicing and multifactorial analysis of intronic BRCA1 and BRCA2 sequence variants identifies clinically significant splicing aberrations up to 12 nucleotides from the intron/exon boundary.

Whiley PJ, Guidugli L, Walker LC, Healey S, Thompson BA, Lakhani SR, Da Silva LM; kConFab Investigators, Tavtigian SV, Goldgar DE, Brown MA, Couch FJ, Spurdle AB.

Hum Mutat. 2011 Jun;32(6):678-87. doi: 10.1002/humu.21495. Epub 2011 Apr 12.

PMID:
21394826
[PubMed - indexed for MEDLINE]
5.

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; kConFab Investigators, Goldgar DE.

Hum Mutat. 2010 Feb;31(2):E1141-5. doi: 10.1002/humu.21181.

PMID:
20020529
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

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.

PMID:
21673748
[PubMed - indexed for MEDLINE]
Free PMC Article
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.

PMID:
16619214
[PubMed - indexed for MEDLINE]
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. doi: 10.1007/s10549-011-1599-7. Epub 2011 Jun 3.

PMID:
21638052
[PubMed - indexed for MEDLINE]
9.

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 15;16(6):1957-67. doi: 10.1158/1078-0432.CCR-09-2564. Epub 2010 Mar 9.

PMID:
20215541
[PubMed - indexed for MEDLINE]
Free Article
10.

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
[PubMed - indexed for MEDLINE]
11.

Genetic, functional, and histopathological evaluation of two C-terminal BRCA1 missense variants.

Lovelock PK, Healey S, Au W, Sum EY, Tesoriero A, Wong EM, Hinson S, Brinkworth R, Bekessy A, Diez O, Izatt L, Solomon E, Jenkins M, Renard H, Hopper J, Waring P, Tavtigian SV, Goldgar D, Lindeman GJ, Visvader JE, Couch FJ, Henderson BR, Southey M, Chenevix-Trench G, Spurdle AB, Brown MA; kConFab Investigators.

J Med Genet. 2006 Jan;43(1):74-83. Epub 2005 May 27.

PMID:
15923272
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

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
[PubMed - indexed for MEDLINE]
13.

Comparison of mRNA splicing assay protocols across multiple laboratories: recommendations for best practice in standardized clinical testing.

Whiley PJ, de la Hoya M, Thomassen M, Becker A, Brandão R, Pedersen IS, Montagna M, Menéndez M, Quiles F, Gutiérrez-Enríquez S, De Leeneer K, Tenés A, Montalban G, Tserpelis D, Yoshimatsu T, Tirapo C, Raponi M, Caldes T, Blanco A, Santamariña M, Guidugli L, de Garibay GR, Wong M, Tancredi M, Fachal L, Ding YC, Kruse T, Lattimore V, Kwong A, Chan TL, Colombo M, De Vecchi G, Caligo M, Baralle D, Lázaro C, Couch F, Radice P, Southey MC, Neuhausen S, Houdayer C, Fackenthal J, Hansen TV, Vega A, Diez O, Blok R, Claes K, Wappenschmidt B, Walker L, Spurdle AB, Brown MA; ENIGMA consortium.

Clin Chem. 2014 Feb;60(2):341-52. doi: 10.1373/clinchem.2013.210658. Epub 2013 Nov 8.

PMID:
24212087
[PubMed - indexed for MEDLINE]
14.

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.

PMID:
20522429
[PubMed - indexed for MEDLINE]
15.

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
[PubMed - indexed for MEDLINE]
16.

RNA analysis reveals splicing mutations and loss of expression defects in MLH1 and BRCA1.

Sharp A, Pichert G, Lucassen A, Eccles D.

Hum Mutat. 2004 Sep;24(3):272.

PMID:
15300854
[PubMed - indexed for MEDLINE]
17.

Multifactorial likelihood assessment of BRCA1 and BRCA2 missense variants confirms that BRCA1:c.122A>G(p.His41Arg) is a pathogenic mutation.

Whiley PJ, Parsons MT, Leary J, Tucker K, Warwick L, Dopita B, Thorne H, Lakhani SR, Goldgar DE, Brown MA, Spurdle AB.

PLoS One. 2014 Jan 28;9(1):e86836. doi: 10.1371/journal.pone.0086836. eCollection 2014.

PMID:
24489791
[PubMed - in process]
Free PMC Article
18.

BRCA1 and BRCA2 missense variants of high and low clinical significance influence lymphoblastoid cell line post-irradiation gene expression.

Waddell N, Ten Haaf A, Marsh A, Johnson J, Walker LC; kConfab Investigators, Gongora M, Brown M, Grover P, Girolami M, Grimmond S, Chenevix-Trench G, Spurdle AB.

PLoS Genet. 2008 May 23;4(5):e1000080. doi: 10.1371/journal.pgen.1000080.

PMID:
18497862
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

The c.5242C>A BRCA1 missense variant induces exon skipping by increasing splicing repressors binding.

Millevoi S, Bernat S, Telly D, Fouque F, Gladieff L, Favre G, Vagner S, Toulas C.

Breast Cancer Res Treat. 2010 Apr;120(2):391-9. doi: 10.1007/s10549-009-0392-3. Epub 2009 Apr 30.

PMID:
19404736
[PubMed - indexed for MEDLINE]
20.

Characterization of the c.190T>C missense mutation in BRCA1 codon 64 (Cys64Arg).

Willems P, Magri V, Cretnik M, Fasano M, Jakubowska A, Levanat S, Lubinski J, Marras E, Musani V, Thierens H, Vandersickel V, Perletti G, Vral A.

Int J Oncol. 2009 Apr;34(4):1005-15.

PMID:
19287957
[PubMed - indexed for MEDLINE]

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