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Items: 20

1.

A RAD51 assay feasible in routine tumor samples calls PARP inhibitor response beyond BRCA mutation.

Castroviejo-Bermejo M, Cruz C, Llop-Guevara A, Gutiérrez-Enríquez S, Ducy M, Ibrahim YH, Gris-Oliver A, Pellegrino B, Bruna A, Guzmán M, Rodríguez O, Grueso J, Bonache S, Moles-Fernández A, Villacampa G, Viaplana C, Gómez P, Vidal M, Peg V, Serres-Créixams X, Dellaire G, Simard J, Nuciforo P, Rubio IT, Dientsmann R, Barrett JC, Caldas C, Baselga J, Saura C, Cortés J, Déas O, Jonkers J, Masson JY, Cairo S, Judde JG, O'Connor MJ, Díez O, Balmaña J, Serra V.

EMBO Mol Med. 2018 Oct 30. pii: e9172. doi: 10.15252/emmm.201809172. [Epub ahead of print]

2.

Multigene panel testing beyond BRCA1/2 in breast/ovarian cancer Spanish families and clinical actionability of findings.

Bonache S, Esteban I, Moles-Fernández A, Tenés A, Duran-Lozano L, Montalban G, Bach V, Carrasco E, Gadea N, López-Fernández A, Torres-Esquius S, Mancuso F, Caratú G, Vivancos A, Tuset N, Balmaña J, Gutiérrez-Enríquez S, Diez O.

J Cancer Res Clin Oncol. 2018 Oct 10. doi: 10.1007/s00432-018-2763-9. [Epub ahead of print]

PMID:
30306255
3.

Computational Tools for Splicing Defect Prediction in Breast/Ovarian Cancer Genes: How Efficient Are They at Predicting RNA Alterations?

Moles-Fernández A, Duran-Lozano L, Montalban G, Bonache S, López-Perolio I, Menéndez M, Santamariña M, Behar R, Blanco A, Carrasco E, López-Fernández A, Stjepanovic N, Balmaña J, Capellá G, Pineda M, Vega A, Lázaro C, de la Hoya M, Diez O, Gutiérrez-Enríquez S.

Front Genet. 2018 Sep 5;9:366. doi: 10.3389/fgene.2018.00366. eCollection 2018.

4.

RAD51 foci as a functional biomarker of homologous recombination repair and PARP inhibitor resistance in germline BRCA-mutated breast cancer.

Cruz C, Castroviejo-Bermejo M, Gutiérrez-Enríquez S, Llop-Guevara A, Ibrahim YH, Gris-Oliver A, Bonache S, Morancho B, Bruna A, Rueda OM, Lai Z, Polanska UM, Jones GN, Kristel P, de Bustos L, Guzman M, Rodríguez O, Grueso J, Montalban G, Caratú G, Mancuso F, Fasani R, Jiménez J, Howat WJ, Dougherty B, Vivancos A, Nuciforo P, Serres-Créixams X, Rubio IT, Oaknin A, Cadogan E, Barrett JC, Caldas C, Baselga J, Saura C, Cortés J, Arribas J, Jonkers J, Díez O, O'Connor MJ, Balmaña J, Serra V.

Ann Oncol. 2018 May 1;29(5):1203-1210. doi: 10.1093/annonc/mdy099.

5.

Germline BRCA testing is moving from cancer risk assessment to a predictive biomarker for targeting cancer therapeutics.

Moreno L, Linossi C, Esteban I, Gadea N, Carrasco E, Bonache S, Gutiérrez-Enríquez S, Cruz C, Díez O, Balmaña J.

Clin Transl Oncol. 2016 Oct;18(10):981-7. doi: 10.1007/s12094-015-1470-0. Epub 2016 Jan 7.

PMID:
26742938
6.

Apoptosis for prediction of radiotherapy late toxicity: lymphocyte subset sensitivity and potential effect of TP53 Arg72Pro polymorphism.

Fuentes-Raspall MJ, Caragol I, Alonso C, Ramón y Cajal T, Fisas D, Seoane A, Carvajal N, Bonache S, Díez O, Gutiérrez-Enríquez S.

Apoptosis. 2015 Mar;20(3):371-82. doi: 10.1007/s10495-014-1056-2.

PMID:
25398538
7.

RAD51C germline mutations found in Spanish site-specific breast cancer and breast-ovarian cancer families.

Blanco A, Gutiérrez-Enríquez S, Santamariña M, Montalban G, Bonache S, Balmaña J, Carracedo A, Diez O, Vega A.

Breast Cancer Res Treat. 2014 Aug;147(1):133-43. doi: 10.1007/s10549-014-3078-4. Epub 2014 Aug 3.

PMID:
25086635
8.

Altered gene expression signature of early stages of the germ line supports the pre-meiotic origin of human spermatogenic failure.

Bonache S, Algaba F, Franco E, Bassas L, Larriba S.

Andrology. 2014 Jul;2(4):596-606. doi: 10.1111/j.2047-2927.2014.00217.x. Epub 2014 May 7.

9.

Comprehensive annotation of splice junctions supports pervasive alternative splicing at the BRCA1 locus: a report from the ENIGMA consortium.

Colombo M, Blok MJ, Whiley P, Santamariña M, Gutiérrez-Enríquez S, Romero A, Garre P, Becker A, Smith LD, De Vecchi G, Brandão RD, Tserpelis D, Brown M, Blanco A, Bonache S, Menéndez M, Houdayer C, Foglia C, Fackenthal JD, Baralle D, Wappenschmidt B; kConFaB Investigators, Díaz-Rubio E, Caldés T, Walker L, Díez O, Vega A, Spurdle AB, Radice P, De La Hoya M.

Hum Mol Genet. 2014 Jul 15;23(14):3666-80. doi: 10.1093/hmg/ddu075. Epub 2014 Feb 25.

PMID:
24569164
10.

About 1% of the breast and ovarian Spanish families testing negative for BRCA1 and BRCA2 are carriers of RAD51D pathogenic variants.

Gutiérrez-Enríquez S, Bonache S, de Garibay GR, Osorio A, Santamariña M, Ramón y Cajal T, Esteban-Cardeñosa E, Tenés A, Yanowsky K, Barroso A, Montalban G, Blanco A, Cornet M, Gadea N, Infante M, Caldés T, Díaz-Rubio E, Balmaña J, Lasa A, Vega A, Benítez J, de la Hoya M, Diez O.

Int J Cancer. 2014 May 1;134(9):2088-97.

11.

Mutation analysis of the BCCIP gene for breast cancer susceptibility in breast/ovarian cancer families.

Bonache S, Gutierrez-Enriquez S, Tenés A, Masas M, Balmaña J, Diez O.

Gynecol Oncol. 2013 Nov;131(2):460-3. doi: 10.1016/j.ygyno.2013.07.104. Epub 2013 Jul 31.

PMID:
23911796
12.

Mutation analysis of the SHFM1 gene in breast/ovarian cancer families.

Bonache S, de la Hoya M, Gutierrez-Enriquez S, Tenés A, Masas M, Balmaña J, Diez O.

J Cancer Res Clin Oncol. 2013 Mar;139(3):529-32. doi: 10.1007/s00432-013-1385-5. Epub 2013 Feb 1.

PMID:
23371468
13.

Epigenetic disruption of the PIWI pathway in human spermatogenic disorders.

Heyn H, Ferreira HJ, Bassas L, Bonache S, Sayols S, Sandoval J, Esteller M, Larriba S.

PLoS One. 2012;7(10):e47892. doi: 10.1371/journal.pone.0047892. Epub 2012 Oct 24.

14.

Sperm gene expression profile is related to pregnancy rate after insemination and is predictive of low fecundity in normozoospermic men.

Bonache S, Mata A, Ramos MD, Bassas L, Larriba S.

Hum Reprod. 2012 Jun;27(6):1556-67. doi: 10.1093/humrep/des074. Epub 2012 Mar 23.

PMID:
22447625
15.

Characterization of four novel BRCA2 large genomic rearrangements in Spanish breast/ovarian cancer families: review of the literature, and reevaluation of the genetic mechanisms involved in their origin.

Ruiz de Garibay G, Gutiérrez-Enríquez S, Garre P, Bonache S, Romero A, Palomo L, Sánchez de Abajo A, Benítez J, Balmaña J, Pérez-Segura P, Díaz-Rubio E, Díez O, Caldés T, de la Hoya M.

Breast Cancer Res Treat. 2012 May;133(1):273-83. doi: 10.1007/s10549-011-1909-0. Epub 2012 Mar 21. Review.

PMID:
22434521
16.

Changes in the expression profile of the meiosis-involved mismatch repair genes in impaired human spermatogenesis.

Terribas E, Bonache S, García-Arévalo M, Sánchez J, Franco E, Bassas L, Larriba S.

J Androl. 2010 Jul-Aug;31(4):346-57. doi: 10.2164/jandrol.109.008805. Epub 2010 Jan 14.

PMID:
20075417
17.

Mutations of SYCP3 are rare in infertile Spanish men with meiotic arrest.

Martínez J, Bonache S, Carvajal A, Bassas L, Larriba S.

Fertil Steril. 2007 Oct;88(4):988-9. Epub 2007 Apr 16.

PMID:
17434513
18.

Single nucleotide polymorphisms in succinate dehydrogenase subunits and citrate synthase genes: association results for impaired spermatogenesis.

Bonache S, Martínez J, Fernández M, Bassas L, Larriba S.

Int J Androl. 2007 Jun;30(3):144-52. Epub 2007 Feb 12.

PMID:
17298551
19.

Molecular evaluation of CFTR sequence variants in male infertility of testicular origin.

Larriba S, Bonache S, Sarquella J, Ramos MD, Giménez J, Bassas L, Casals T.

Int J Androl. 2005 Oct;28(5):284-90.

PMID:
16128988
20.

Spectrum of mutations in CFTR in Finland: 18 years follow-up study and identification of two novel mutations.

Kinnunen S, Bonache S, Casals T, Monto S, Savilahti E, Kere J, Järvelä I.

J Cyst Fibros. 2005 Dec;4(4):233-7. Epub 2005 Jul 26.

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