Balmaña J - Search Results

1

Role of Splicing Regulatory Elements and In Silico Tools Usage in the Identification of Deep Intronic Splicing Variants in Hereditary Breast/Ovarian Cancer Genes.

Moles-Fernández A, Domènech-Vivó J, Tenés A, Balmaña J, Diez O, Gutiérrez-Enríquez S. Moles-Fernández A, et al. Among authors: balmana j. Cancers (Basel). 2021 Jul 3;13(13):3341. doi: 10.3390/cancers13133341. Cancers (Basel). 2021. PMID: 34283047 Free PMC article.

2

BRCA2 mutation analysis of 87 Spanish breast/ovarian cancer families.

Campos B, Diez O, Domènech M, Baena M, Pericay C, Balmaña J, del Rio E, Sanz J, Alonso C, Baiget M. Campos B, et al. Among authors: balmana j. Ann Oncol. 2001 Dec;12(12):1699-703. doi: 10.1023/a:1013517313008. Ann Oncol. 2001. PMID: 11843247 Free article.

3

Haplotype analysis of the BRCA2 9254delATCAT recurrent mutation in breast/ovarian cancer families from Spain.

Campos B, Díez O, Odefrey F, Domènech M, Moncoutier V, Martínez-Ferrandis JI, Osorio A, Balmaña J, Barroso A, Armengod ME, Benítez J, Alonso C, Stoppa-Lyonnet D, Goldgar D, Baiget M. Campos B, et al. Among authors: balmana j. Hum Mutat. 2003 Apr;21(4):452. doi: 10.1002/humu.9133. Hum Mutat. 2003. PMID: 12655574

4

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. Campos B, et al. Among authors: balmana j. Hum Mutat. 2003 Oct;22(4):337. doi: 10.1002/humu.9176. Hum Mutat. 2003. PMID: 12955719

5

Genetic counseling program in familial breast cancer: analysis of its effectiveness, cost and cost-effectiveness ratio.

Balmaña J, Sanz J, Bonfill X, Casado A, Rué M, Gich I, Díez O, Sabaté JM, Baiget M, Alonso MC. Balmaña J, et al. Int J Cancer. 2004 Nov 20;112(4):647-52. doi: 10.1002/ijc.20458. Int J Cancer. 2004. PMID: 15382046 Free article.

6

[Haplotype of the BRCA2 6857delAA mutation in 4 families with breast/ovarian cancer].

Campos B, Díez O, Alvarez C, Palma L, Domènech M, Balmaña J, Sanz J, Ramírez A, Alonso C, Carvallo P, Baiget M. Campos B, et al. Among authors: balmana j. Med Clin (Barc). 2004 Oct 23;123(14):543-5. doi: 10.1016/s0025-7753(04)74590-x. Med Clin (Barc). 2004. PMID: 15535929 Spanish.

7

Detection of the CHEK2 1100delC mutation by MLPA BRCA1/2 analysis: a worthwhile strategy for its clinical applicability in 1100delC low-frequency populations?

Gutiérrez-Enríquez S, Balmaña J, Baiget M, Díez O. Gutiérrez-Enríquez S, et al. Among authors: balmana j. Breast Cancer Res Treat. 2008 Feb;107(3):455-7. doi: 10.1007/s10549-007-9555-2. Epub 2007 Apr 26. Breast Cancer Res Treat. 2008. PMID: 17458694 No abstract available.

8

Caution should be used when interpreting alterations affecting the exon 3 of the BRCA2 gene in breast/ovarian cancer families.

Díez O, Gutiérrez-Enríquez S, Ramón y Cajal T, Alonso C, Balmaña J, Llort G. Díez O, et al. Among authors: balmana j. J Clin Oncol. 2007 Nov 1;25(31):5035-6; author reply 5036-8. doi: 10.1200/JCO.2007.13.4346. J Clin Oncol. 2007. PMID: 17971607 No abstract available.

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. Gutiérrez-Enríquez S, et al. Among authors: balmana j. Breast Cancer Res Treat. 2009 Sep;117(2):461-5. doi: 10.1007/s10549-008-0154-7. Epub 2008 Aug 19. Breast Cancer Res Treat. 2009. PMID: 18712473

10

BRCA in breast cancer: ESMO clinical recommendations.

Balmaña J, Díez O, Castiglione M; ESMO Guidelines Working Group. Balmaña J, et al. Ann Oncol. 2009 May;20 Suppl 4:19-20. doi: 10.1093/annonc/mdp116. Ann Oncol. 2009. PMID: 19454451 Free article. Review. No abstract available.

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