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Results: 1 to 20 of 488

1.

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]
2.

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]
3.

RNA-based analysis of BRCA1 and BRCA2 gene alterations.

Bonatti F, Pepe C, Tancredi M, Lombardi G, Aretini P, Sensi E, Falaschi E, Cipollini G, Bevilacqua G, Caligo MA.

Cancer Genet Cytogenet. 2006 Oct 15;170(2):93-101.

PMID:
17011978
[PubMed - indexed for MEDLINE]
4.

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 20;8:140. doi: 10.1186/1471-2407-8-140.

PMID:
18489799
[PubMed - indexed for MEDLINE]
Free PMC Article
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. doi: 10.1002/humu.20811.

PMID:
18693280
[PubMed - indexed for MEDLINE]
6.

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.

PMID:
12759930
[PubMed - indexed for MEDLINE]
7.

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
8.

Genetic analysis of BRCA1 and BRCA2 in breast/ovarian cancer families from Aragon (Spain): two novel truncating mutations and a large genomic deletion in BRCA1.

Miramar MD, Calvo MT, Rodriguez A, Antón A, Lorente F, Barrio E, Herrero A, Burriel J, García de Jalón A.

Breast Cancer Res Treat. 2008 Nov;112(2):353-8. doi: 10.1007/s10549-007-9868-1. Epub 2008 Jan 4.

PMID:
18176857
[PubMed - indexed for MEDLINE]
9.

The variants BRCA1 IVS6-1G>A and BRCA2 IVS15+1G>A lead to aberrant splicing of the transcripts.

Gutiérrez-Enríquez S, Coderch V, Masas M, Balmaña J, Diez O.

Breast Cancer Res Treat. 2009 Sep;117(2):461-5. doi: 10.1007/s10549-008-0154-7. Epub 2008 Aug 19.

PMID:
18712473
[PubMed - indexed for MEDLINE]
10.

Differences in the frequency and distribution of BRCA1 and BRCA2 mutations in breast/ovarian cancer cases from the Basque country with respect to the Spanish population: implications for genetic counselling.

Beristain E, Martínez-Bouzas C, Guerra I, Viguera N, Moreno J, Ibañez E, Díez J, Rodríguez F, Mallabiabarrena G, Luján S, Gorostiaga J, De Pablo JL, Mendizabal JL, Tejada MI.

Breast Cancer Res Treat. 2007 Dec;106(2):255-62. Epub 2007 Jan 30.

PMID:
17262179
[PubMed - indexed for MEDLINE]
11.

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
12.

Novel germline mutations in the BRCA1 and BRCA2 genes in Indian breast and breast-ovarian cancer families.

Valarmathi MT, Sawhney M, Deo SS, Shukla NK, Das SN.

Hum Mutat. 2004 Feb;23(2):205.

PMID:
14722926
[PubMed - indexed for MEDLINE]
13.

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]
14.

BRCA1 and BRCA2 unclassified variants and missense polymorphisms in Algerian breast/ovarian cancer families.

Cherbal F, Salhi N, Bakour R, Adane S, Boualga K, Maillet P.

Dis Markers. 2012;32(6):343-53. doi: 10.3233/DMA-2012-0893.

PMID:
22684231
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

Analysis of BRCA1 and BRCA2 genes in Spanish breast/ovarian cancer patients: a high proportion of mutations unique to Spain and evidence of founder effects.

Díez O, Osorio A, Durán M, Martinez-Ferrandis JI, de la Hoya M, Salazar R, Vega A, Campos B, Rodríguez-López R, Velasco E, Chaves J, Díaz-Rubio E, Jesús Cruz J, Torres M, Esteban E, Cervantes A, Alonso C, San Román JM, González-Sarmiento R, Miner C, Carracedo A, Eugenia Armengod M, Caldés T, Benítez J, Baiget M.

Hum Mutat. 2003 Oct;22(4):301-12.

PMID:
12955716
[PubMed - indexed for MEDLINE]
16.

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
17.

Contribution of BRCA1 and BRCA2 mutations to inherited ovarian cancer.

Ramus SJ, Harrington PA, Pye C, DiCioccio RA, Cox MJ, Garlinghouse-Jones K, Oakley-Girvan I, Jacobs IJ, Hardy RM, Whittemore AS, Ponder BA, Piver MS, Pharoah PD, Gayther SA.

Hum Mutat. 2007 Dec;28(12):1207-15.

PMID:
17688236
[PubMed - indexed for MEDLINE]
18.

Novel BRCA1 and BRCA2 germline mutations and assessment of mutation spectrum and prevalence in Italian breast and/or ovarian cancer families.

Giannini G, Capalbo C, Ristori E, Ricevuto E, Sidoni T, Buffone A, Cortesi E, Marchetti P, Scambia G, Tomao S, Rinaldi C, Zani M, Ferraro S, Frati L, Screpanti I, Gulino A.

Breast Cancer Res Treat. 2006 Nov;100(1):83-91. Epub 2006 May 9.

PMID:
16847550
[PubMed - indexed for MEDLINE]
19.

Twenty-three novel BRCA1 and BRCA2 sequence alterations in breast and/or ovarian cancer families in Southern Germany.

Meyer P, Voigtlaender T, Bartram CR, Klaes R.

Hum Mutat. 2003 Sep;22(3):259.

PMID:
12938098
[PubMed - indexed for MEDLINE]
20.

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]

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