Gutiérrez-Enríquez S - Search Results

1

Alternative transcript imbalance underlying breast cancer susceptibility in a family carrying PALB2 c.3201+5G>T.

Duran-Lozano L, Montalban G, Bonache S, Moles-Fernández A, Tenés A, Castroviejo-Bermejo M, Carrasco E, López-Fernández A, Torres-Esquius S, Gadea N, Stjepanovic N, Balmaña J, Gutiérrez-Enríquez S, Diez O. Duran-Lozano L, et al. Breast Cancer Res Treat. 2019 Apr;174(2):543-550. doi: 10.1007/s10549-018-05094-8. Epub 2018 Dec 14. Breast Cancer Res Treat. 2019. PMID: 30552643

2

[Breast cancer susceptibility genes].

Díez O, Gutiérrez-Enríquez S, Ramón y Cajal T. Díez O, et al. Med Clin (Barc). 2006 Mar 4;126(8):304-10. doi: 10.1157/13085493. Med Clin (Barc). 2006. PMID: 16527158 Review. Spanish.

3

Screening for large rearrangements of the BRCA2 gene in Spanish families with breast/ovarian cancer.

Gutiérrez-Enríquez S, de la Hoya M, Martínez-Bouzas C, Sanchez de Abajo A, Ramón y Cajal T, Llort G, Blanco I, Beristain E, Díaz-Rubio E, Alonso C, Tejada MI, Caldés T, Diez O. Gutiérrez-Enríquez S, et al. Breast Cancer Res Treat. 2007 May;103(1):103-7. doi: 10.1007/s10549-006-9376-8. Epub 2006 Oct 25. Breast Cancer Res Treat. 2007. PMID: 17063271

4

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. 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.

5

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.

6

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. 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

7

BRCA2 splice site mutations in an Italian breast/ovarian cancer family.

Díez O, Gutiérrez-Enríquez S. Díez O, et al. Ann Oncol. 2009 Jul;20(7):1285; author reply 1285-6. doi: 10.1093/annonc/mdp316. Ann Oncol. 2009. PMID: 19542536 Free article. No abstract available.

8

A novel de novo BRCA2 mutation of paternal origin identified in a Spanish woman with early onset bilateral breast cancer.

Diez O, Gutiérrez-Enríquez S, Mediano C, Masas M, Saura C, Gadea N, Balmaña J. Diez O, et al. Breast Cancer Res Treat. 2010 May;121(1):221-5. doi: 10.1007/s10549-009-0494-y. Epub 2009 Aug 1. Breast Cancer Res Treat. 2010. PMID: 19649703

9

Heterogeneous prevalence of recurrent BRCA1 and BRCA2 mutations in Spain according to the geographical area: implications for genetic testing.

Diez O, Gutiérrez-Enríquez S, Balmaña J. Diez O, et al. Fam Cancer. 2010 Jun;9(2):187-91. doi: 10.1007/s10689-009-9301-5. Fam Cancer. 2010. PMID: 19941167

10

Identification of a new complex deleterious mutation in exon 18 of the BRCA2 gene in a hereditary male/female breast cancer family.

Diez O, Gutiérrez-Enríquez S, Masas M, Tenés A, Yagüe C, Arcusa A, Llort G. Diez O, et al. Breast Cancer Res Treat. 2010 Sep;123(2):587-90. doi: 10.1007/s10549-010-0830-2. Epub 2010 Mar 16. Breast Cancer Res Treat. 2010. PMID: 20232139

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