Díez O - Search Results

1

BARD1 Pathogenic Variants are Associated with Triple-Negative Breast Cancer in a Spanish Hereditary Breast and Ovarian Cancer Cohort.

Rofes P, Del Valle J, Torres-Esquius S, Feliubadaló L, Stradella A, Moreno-Cabrera JM, López-Doriga A, Munté E, De Cid R, Campos O, Cuesta R, Teulé Á, Grau È, Sanz J, Capellá G, Díez O, Brunet J, Balmaña J, Lázaro C. Rofes P, et al. Among authors: diez o. Genes (Basel). 2021 Jan 23;12(2):150. doi: 10.3390/genes12020150. Genes (Basel). 2021. PMID: 33498765 Free PMC article.

2

[Description of a new TP53 gene germline mutation in a family with the Li-Fraumeni syndrome. Genetic counselling to healthy mutation carriers].

Balmaña J, Nomdedéu J, Díez O, Sabaté JM, Balil A, Pericay C, López López JJ, Brunet J, Baiget M, Alonso C. Balmaña J, et al. Among authors: diez o. Med Clin (Barc). 2002 Oct 19;119(13):497-9. doi: 10.1016/s0025-7753(02)73474-x. Med Clin (Barc). 2002. PMID: 12406399 Spanish.

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: diez o. 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: diez o. 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. Among authors: diez o. 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: diez o. 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

Sex ratio distortion in offspring of families with BRCA1 or BRCA2 mutant alleles: an ascertainment bias phenomenon?

Balmaña J, Díez O, Campos B, Majewski M, Sanz J, Alonso C, Baiget M, Garber JE. Balmaña J, et al. Among authors: diez o. Breast Cancer Res Treat. 2005 Aug;92(3):273-7. doi: 10.1007/s10549-005-3377-x. Breast Cancer Res Treat. 2005. PMID: 16155798

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. 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 average cumulative risks of breast and ovarian cancer for carriers of mutations in BRCA1 and BRCA2 attending genetic counseling units in Spain.

Milne RL, Osorio A, Cajal TR, Vega A, Llort G, de la Hoya M, Díez O, Alonso MC, Lazaro C, Blanco I, Sánchez-de-Abajo A, Caldés T, Blanco A, Graña B, Durán M, Velasco E, Chirivella I, Cardeñosa EE, Tejada MI, Beristain E, Miramar MD, Calvo MT, Martínez E, Guillén C, Salazar R, San Román C, Antoniou AC, Urioste M, Benítez J. Milne RL, et al. Among authors: diez o. Clin Cancer Res. 2008 May 1;14(9):2861-9. doi: 10.1158/1078-0432.CCR-07-4436. Clin Cancer Res. 2008. PMID: 18451254

10

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: diez o. 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

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