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Items: 49

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.

BRCA1 and BRCA2 5' noncoding region variants identified in breast cancer patients alter promoter activity and protein binding.

Burke LJ, Sevcik J, Gambino G, Tudini E, Mucaki EJ, Shirley BC, Whiley P, Parsons MT, De Leeneer K, Gutiérrez-Enríquez S, Santamariña M, Caputo SM, Santana Dos Santos E, Soukupova J, Janatova M, Zemankova P, Lhotova K, Stolarova L, Borecka M, Moles-Fernández A, Manoukian S, Bonanni B; ENIGMA Consortium, Edwards SL, Blok MJ, van Overeem Hansen T, Rossing M, Diez O, Vega A, Claes KBM, Goldgar DE, Rouleau E, Radice P, Peterlongo P, Rogan PK, Caligo M, Spurdle AB, Brown MA.

Hum Mutat. 2018 Sep 11. doi: 10.1002/humu.23652. [Epub ahead of print]

PMID:
30204945
5.

Characterization of spliceogenic variants located in regions linked to high levels of alternative splicing: BRCA2 c.7976+5G > T as a case study.

Montalban G, Fraile-Bethencourt E, López-Perolio I, Pérez-Segura P, Infante M, Durán M, Alonso-Cerezo MC, López-Fernández A, Diez O, de la Hoya M, Velasco EA, Gutiérrez-Enríquez S.

Hum Mutat. 2018 Sep;39(9):1155-1160. doi: 10.1002/humu.23583. Epub 2018 Jul 13.

PMID:
29969168
6.

Impact of Applying a Learning Strategy to Improve the Sample Quality in Cervical Screening in Nursing Staff in Social Service.

Gutiérrez Enríquez SO, Méndez Donjuan LF, Terán Figueroa Y, Gaytán Hernández D, Oros Ovalle C, Díaz Oviedo A.

Invest Educ Enferm. 2017 Oct;35(3):340-347. doi: 10.17533/udea.iee.v35n3a10.

PMID:
29767914
7.

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.

8.

Decapping protein EDC4 regulates DNA repair and phenocopies BRCA1.

Hernández G, Ramírez MJ, Minguillón J, Quiles P, Ruiz de Garibay G, Aza-Carmona M, Bogliolo M, Pujol R, Prados-Carvajal R, Fernández J, García N, López A, Gutiérrez-Enríquez S, Diez O, Benítez J, Salinas M, Teulé A, Brunet J, Radice P, Peterlongo P, Schindler D, Huertas P, Puente XS, Lázaro C, Pujana MÀ, Surrallés J.

Nat Commun. 2018 Mar 6;9(1):967. doi: 10.1038/s41467-018-03433-3.

9.

[Future type 2 diabetes mellitus scenario estimated with a predictive dynamic simulation model].

Gaytán-Hernández D, Gutiérrez-Enríquez SO, Díaz-Oviedo A, González-Acevedo CE, Miranda-Herrera M, Hernández-Ibarra LE.

Rev Panam Salud Publica. 2018 Feb 19;41:e93. Spanish.

10.

Prediction of Breast and Prostate Cancer Risks in Male BRCA1 and BRCA2 Mutation Carriers Using Polygenic Risk Scores.

Lecarpentier J, Silvestri V, Kuchenbaecker KB, Barrowdale D, Dennis J, McGuffog L, Soucy P, Leslie G, Rizzolo P, Navazio AS, Valentini V, Zelli V, Lee A, Amin Al Olama A, Tyrer JP, Southey M, John EM, Conner TA, Goldgar DE, Buys SS, Janavicius R, Steele L, Ding YC, Neuhausen SL, Hansen TVO, Osorio A, Weitzel JN, Toss A, Medici V, Cortesi L, Zanna I, Palli D, Radice P, Manoukian S, Peissel B, Azzollini J, Viel A, Cini G, Damante G, Tommasi S, Peterlongo P, Fostira F, Hamann U, Evans DG, Henderson A, Brewer C, Eccles D, Cook J, Ong KR, Walker L, Side LE, Porteous ME, Davidson R, Hodgson S, Frost D, Adlard J, Izatt L, Eeles R, Ellis S, Tischkowitz M; EMBRACE, Godwin AK, Meindl A, Gehrig A, Dworniczak B, Sutter C, Engel C, Niederacher D, Steinemann D, Hahnen E, Hauke J, Rhiem K, Kast K, Arnold N, Ditsch N, Wang-Gohrke S, Wappenschmidt B, Wand D, Lasset C, Stoppa-Lyonnet D, Belotti M, Damiola F, Barjhoux L, Mazoyer S; GEMO Study Collaborators, Van Heetvelde M, Poppe B, De Leeneer K, Claes KBM, de la Hoya M, Garcia-Barberan V, Caldes T, Perez Segura P, Kiiski JI, Aittomäki K, Khan S, Nevanlinna H, van Asperen CJ; HEBON, Vaszko T, Kasler M, Olah E, Balmaña J, Gutiérrez-Enríquez S, Diez O, Teulé A, Izquierdo A, Darder E, Brunet J, Del Valle J, Feliubadalo L, Pujana MA, Lazaro C, Arason A, Agnarsson BA, Johannsson OT, Barkardottir RB, Alducci E, Tognazzo S, Montagna M, Teixeira MR, Pinto P, Spurdle AB, Holland H; KConFab Investigators, Lee JW, Lee MH, Lee J, Kim SW, Kang E, Kim Z, Sharma P, Rebbeck TR, Vijai J, Robson M, Lincoln A, Musinsky J, Gaddam P, Tan YY, Berger A, Singer CF, Loud JT, Greene MH, Mulligan AM, Glendon G, Andrulis IL, Toland AE, Senter L, Bojesen A, Nielsen HR, Skytte AB, Sunde L, Jensen UB, Pedersen IS, Krogh L, Kruse TA, Caligo MA, Yoon SY, Teo SH, von Wachenfeldt A, Huo D, Nielsen SM, Olopade OI, Nathanson KL, Domchek SM, Lorenchick C, Jankowitz RC, Campbell I, James P, Mitchell G, Orr N, Park SK, Thomassen M, Offit K, Couch FJ, Simard J, Easton DF, Chenevix-Trench G, Schmutzler RK, Antoniou AC, Ottini L.

J Clin Oncol. 2017 Jul 10;35(20):2240-2250. doi: 10.1200/JCO.2016.69.4935. Epub 2017 Apr 27.

11.

Individual patient data meta-analysis shows a significant association between the ATM rs1801516 SNP and toxicity after radiotherapy in 5456 breast and prostate cancer patients.

Andreassen CN, Rosenstein BS, Kerns SL, Ostrer H, De Ruysscher D, Cesaretti JA, Barnett GC, Dunning AM, Dorling L, West CML, Burnet NG, Elliott R, Coles C, Hall E, Fachal L, Vega A, Gómez-Caamaño A, Talbot CJ, Symonds RP, De Ruyck K, Thierens H, Ost P, Chang-Claude J, Seibold P, Popanda O, Overgaard M, Dearnaley D, Sydes MR, Azria D, Koch CA, Parliament M, Blackshaw M, Sia M, Fuentes-Raspall MJ, Ramon Y Cajal T, Barnadas A, Vesprini D, Gutiérrez-Enríquez S, Mollà M, Díez O, Yarnold JR, Overgaard J, Bentzen SM, Alsner J; International Radiogenomics Consortium (RgC).

Radiother Oncol. 2016 Dec;121(3):431-439. doi: 10.1016/j.radonc.2016.06.017. Epub 2016 Jul 18.

12.

Naturally occurring BRCA2 alternative mRNA splicing events in clinically relevant samples.

Fackenthal JD, Yoshimatsu T, Zhang B, de Garibay GR, Colombo M, De Vecchi G, Ayoub SC, Lal K, Olopade OI, Vega A, Santamariña M, Blanco A, Wappenschmidt B, Becker A, Houdayer C, Walker LC, López-Perolio I, Thomassen M, Parsons M, Whiley P, Blok MJ, Brandão RD, Tserpelis D, Baralle D, Montalban G, Gutiérrez-Enríquez S, Díez O, Lazaro C; kConFaB Investigators, Spurdle AB, Radice P, de la Hoya M.

J Med Genet. 2016 Aug;53(8):548-58. doi: 10.1136/jmedgenet-2015-103570. Epub 2016 Apr 8.

PMID:
27060066
13.

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
14.

[The burden of cervical cancer in patients with limited access to health services].

Terán-Figueroa Y, Muñiz-Carreón P, Moya MF, Galán-Cuevas S, Noyola-Range N, Gutiérrez-Enríquez SO, Ortiz-Valdez JA, Cruz-Valdez A.

Ginecol Obstet Mex. 2015 Mar;83(3):162-72. Spanish.

PMID:
26058169
15.

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
16.

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
17.

Radiogenomics: radiobiology enters the era of big data and team science.

Rosenstein BS, West CM, Bentzen SM, Alsner J, Andreassen CN, Azria D, Barnett GC, Baumann M, Burnet N, Chang-Claude J, Chuang EY, Coles CE, Dekker A, De Ruyck K, De Ruysscher D, Drumea K, Dunning AM, Easton D, Eeles R, Fachal L, Gutiérrez-Enríquez S, Haustermans K, Henríquez-Hernández LA, Imai T, Jones GD, Kerns SL, Liao Z, Onel K, Ostrer H, Parliament M, Pharoah PD, Rebbeck TR, Talbot CJ, Thierens H, Vega A, Witte JS, Wong P, Zenhausern F; Radiogenomics Consortium.

Int J Radiat Oncol Biol Phys. 2014 Jul 15;89(4):709-13. doi: 10.1016/j.ijrobp.2014.03.009. No abstract available.

18.

[Health staff performance taking of smear: knowledge, skills and practice].

Gutiérrez-Enríquez SO, Gaytán-Hernández D, Zamarripa-Leyva JM, Terán-Figueroa Y.

Ginecol Obstet Mex. 2014 May;82(5):296-305; discusdsion 306. Spanish.

PMID:
24937945
19.

[Performance of health staff in Papanicolauo test: theoretical knowledge and practical implementation].

Gutiérrez-Enríquez SO, Gaytán-Hernández D, Zamarripa-Leyva JM, Terán-Figueroa Y.

Ginecol Obstet Mex. 2014 Jan;82(1):9-19. Spanish.

PMID:
24701856
20.

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
21.

Comparison of mRNA splicing assay protocols across multiple laboratories: recommendations for best practice in standardized clinical testing.

Whiley PJ, de la Hoya M, Thomassen M, Becker A, Brandão R, Pedersen IS, Montagna M, Menéndez M, Quiles F, Gutiérrez-Enríquez S, De Leeneer K, Tenés A, Montalban G, Tserpelis D, Yoshimatsu T, Tirapo C, Raponi M, Caldes T, Blanco A, Santamariña M, Guidugli L, de Garibay GR, Wong M, Tancredi M, Fachal L, Ding YC, Kruse T, Lattimore V, Kwong A, Chan TL, Colombo M, De Vecchi G, Caligo M, Baralle D, Lázaro C, Couch F, Radice P, Southey MC, Neuhausen S, Houdayer C, Fackenthal J, Hansen TV, Vega A, Diez O, Blok R, Claes K, Wappenschmidt B, Walker L, Spurdle AB, Brown MA; ENIGMA consortium.

Clin Chem. 2014 Feb;60(2):341-52. doi: 10.1373/clinchem.2013.210658. Epub 2013 Nov 8.

22.

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.

23.

Capillary electrophoresis analysis of conventional splicing assays: IARC analytical and clinical classification of 31 BRCA2 genetic variants.

de Garibay GR, Acedo A, García-Casado Z, Gutiérrez-Enríquez S, Tosar A, Romero A, Garre P, Llort G, Thomassen M, Díez O, Pérez-Segura P, Díaz-Rubio E, Velasco EA, Caldés T, de la Hoya M.

Hum Mutat. 2014 Jan;35(1):53-7. doi: 10.1002/humu.22456. Epub 2013 Oct 28.

PMID:
24123850
24.

Analysis of PALB2 gene in BRCA1/BRCA2 negative Spanish hereditary breast/ovarian cancer families with pancreatic cancer cases.

Blanco A, de la Hoya M, Osorio A, Diez O, Miramar MD, Infante M, Martinez-Bouzas C, Torres A, Lasa A, Llort G, Brunet J, Graña B, Perez Segura P, Garcia MJ, Gutiérrez-Enríquez S, Carracedo Á, Tejada MI, Velasco EA, Calvo MT, Balmaña J, Benitez J, Caldés T, Vega A.

PLoS One. 2013 Jul 23;8(7):e67538. doi: 10.1371/journal.pone.0067538. Print 2013.

25.

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
26.

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
27.

Individual patient data meta-analysis shows no association between the SNP rs1800469 in TGFB and late radiotherapy toxicity.

Barnett GC, Elliott RM, Alsner J, Andreassen CN, Abdelhay O, Burnet NG, Chang-Claude J, Coles CE, Gutiérrez-Enríquez S, Fuentes-Raspall MJ, Alonso-Muñoz MC, Kerns S, Raabe A, Symonds RP, Seibold P, Talbot CJ, Wenz F, Wilkinson J, Yarnold J, Dunning AM, Rosenstein BS, West CM, Bentzen SM.

Radiother Oncol. 2012 Dec;105(3):289-95. doi: 10.1016/j.radonc.2012.10.017. Epub 2012 Nov 28.

28.

Novel BRCA1 deleterious mutation (c.1949_1950delTA) in a woman of Senegalese descent with triple-negative early-onset breast cancer.

Diez O, Pelegrí A, Gadea N, Gutiérrez-Enríquez S, Masas M, Tenés A, Bosch N, Balmaña J, Graña B.

Oncol Lett. 2011 Nov;2(6):1287-1289. Epub 2011 Aug 19.

29.

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
30.

Characterization of BRCA1 and BRCA2 splicing variants: a collaborative report by ENIGMA consortium members.

Thomassen M, Blanco A, Montagna M, Hansen TV, Pedersen IS, Gutiérrez-Enríquez S, Menéndez M, Fachal L, Santamariña M, Steffensen AY, Jønson L, Agata S, Whiley P, Tognazzo S, Tornero E, Jensen UB, Balmaña J, Kruse TA, Goldgar DE, Lázaro C, Diez O, Spurdle AB, Vega A.

Breast Cancer Res Treat. 2012 Apr;132(3):1009-23. doi: 10.1007/s10549-011-1674-0. Epub 2011 Jul 19.

PMID:
21769658
31.

Germline ATM mutational analysis in BRCA1/BRCA2 negative hereditary breast cancer families by MALDI-TOF mass spectrometry.

Graña B, Fachal L, Darder E, Balmaña J, Ramón Y Cajal T, Blanco I, Torres A, Lázaro C, Diez O, Alonso C, Santamariña M, Velasco A, Teulé A, Lasa A, Blanco A, Izquierdo A, Borràs J, Gutiérrez-Enríquez S, Vega A, Brunet J.

Breast Cancer Res Treat. 2011 Jul;128(2):573-9. doi: 10.1007/s10549-011-1462-x. Epub 2011 Mar 29.

PMID:
21445571
32.

Spectrum of BRCA1/2 point mutations and genomic rearrangements in high-risk breast/ovarian cancer Chilean families.

Gonzalez-Hormazabal P, Gutierrez-Enriquez S, Gaete D, Reyes JM, Peralta O, Waugh E, Gomez F, Margarit S, Bravo T, Blanco R, Diez O, Jara L.

Breast Cancer Res Treat. 2011 Apr;126(3):705-16. doi: 10.1007/s10549-010-1170-y. Epub 2010 Sep 22.

PMID:
20859677
33.

International distribution and age estimation of the Portuguese BRCA2 c.156_157insAlu founder mutation.

Peixoto A, Santos C, Pinheiro M, Pinto P, Soares MJ, Rocha P, Gusmão L, Amorim A, van der Hout A, Gerdes AM, Thomassen M, Kruse TA, Cruger D, Sunde L, Bignon YJ, Uhrhammer N, Cornil L, Rouleau E, Lidereau R, Yannoukakos D, Pertesi M, Narod S, Royer R, Costa MM, Lazaro C, Feliubadaló L, Graña B, Blanco I, de la Hoya M, Caldés T, Maillet P, Benais-Pont G, Pardo B, Laitman Y, Friedman E, Velasco EA, Durán M, Miramar MD, Valle AR, Calvo MT, Vega A, Blanco A, Diez O, Gutiérrez-Enríquez S, Balmaña J, Ramon y Cajal T, Alonso C, Baiget M, Foulkes W, Tischkowitz M, Kyle R, Sabbaghian N, Ashton-Prolla P, Ewald IP, Rajkumar T, Mota-Vieira L, Giannini G, Gulino A, Achatz MI, Carraro DM, de Paillerets BB, Remenieras A, Benson C, Casadei S, King MC, Teugels E, Teixeira MR.

Breast Cancer Res Treat. 2011 Jun;127(3):671-9. doi: 10.1007/s10549-010-1036-3. Epub 2010 Jul 22.

34.

Ionizing radiation or mitomycin-induced micronuclei in lymphocytes of BRCA1 or BRCA2 mutation carriers.

Gutiérrez-Enríquez S, Ramón Y Cajal T, Alonso C, Corral A, Carrasco P, Cornet M, Sanz J, Ribas M, Baiget M, Diez O.

Breast Cancer Res Treat. 2011 Jun;127(3):611-22. doi: 10.1007/s10549-010-1017-6. Epub 2010 Jul 13.

PMID:
20625817
35.

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.

Breast Cancer Res Treat. 2010 Sep;123(2):587-90. doi: 10.1007/s10549-010-0830-2. Epub 2010 Mar 16.

PMID:
20232139
36.

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.

Fam Cancer. 2010 Jun;9(2):187-91. doi: 10.1007/s10689-009-9301-5.

PMID:
19941167
37.

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.

Breast Cancer Res Treat. 2010 May;121(1):221-5. doi: 10.1007/s10549-009-0494-y. Epub 2009 Aug 1.

PMID:
19649703
38.

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

Díez O, Gutiérrez-Enríquez S.

Ann Oncol. 2009 Jul;20(7):1285; author reply 1285-6. doi: 10.1093/annonc/mdp316. No abstract available.

PMID:
19542536
39.

Mitotic delay in lymphocytes from BRCA1 heterozygotes unable to reduce the radiation-induced chromosomal damage.

Febrer E, Mestres M, Caballín MR, Barrios L, Ribas M, Gutiérrez-Enríquez S, Alonso C, Ramón y Cajal T, Francesc Barquinero J.

DNA Repair (Amst). 2008 Nov 1;7(11):1907-11. doi: 10.1016/j.dnarep.2008.08.001. Epub 2008 Sep 13.

PMID:
18765304
40.

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
41.

ATM germline mutations in Spanish early-onset breast cancer patients negative for BRCA1/BRCA2 mutations.

Brunet J, Gutiérrez-Enríquez S, Torres A, Bérez V, Sanjosé S, Galceran J, Izquierdo A, Menéndez JA, Gumà J, Borràs J.

Clin Genet. 2008 May;73(5):465-73. doi: 10.1111/j.1399-0004.2008.00987.x. Epub 2008 Apr 2.

PMID:
18384426
42.

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.

J Clin Oncol. 2007 Nov 1;25(31):5035-6; author reply 5036-8. No abstract available.

PMID:
17971607
43.

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.

Breast Cancer Res Treat. 2008 Feb;107(3):455-7. Epub 2007 Apr 26. No abstract available.

PMID:
17458694
44.

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.

Breast Cancer Res Treat. 2007 May;103(1):103-7. Epub 2006 Oct 25.

PMID:
17063271
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Genomic rearrangements at the BRCA1 locus in Spanish families with breast/ovarian cancer.

de la Hoya M, Gutiérrez-Enríquez S, Velasco E, Osorio A, Sanchez de Abajo A, Vega A, Salazar R, Esteban E, Llort G, Gonzalez-Sarmiento R, Carracedo A, Benítez J, Miner C, Díez O, Díaz-Rubio E, Caldes T.

Clin Chem. 2006 Aug;52(8):1480-5. Epub 2006 Jun 22.

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[Breast cancer susceptibility genes].

Díez O, Gutiérrez-Enríquez S, Ramón y Cajal T.

Med Clin (Barc). 2006 Mar 4;126(8):304-10. Review. Spanish.

PMID:
16527158
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Functional consequences of ATM sequence variants for chromosomal radiosensitivity.

Gutiérrez-Enríquez S, Fernet M, Dörk T, Bremer M, Lauge A, Stoppa-Lyonnet D, Moullan N, Angèle S, Hall J.

Genes Chromosomes Cancer. 2004 Jun;40(2):109-19.

PMID:
15101044
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A TP53 polymorphism is associated with increased risk of colorectal cancer and with reduced levels of TP53 mRNA.

Gemignani F, Moreno V, Landi S, Moullan N, Chabrier A, Gutiérrez-Enríquez S, Hall J, Guino E, Peinado MA, Capella G, Canzian F.

Oncogene. 2004 Mar 11;23(10):1954-6.

PMID:
14647431
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