CLINICAL RESEARCH
Hereditary Cancer Genetics Group

JUDITH BALMAÑA

JUDITH BALMAÑA
Principal Investigator
Biosketch

STRATEGIC GOALS

  • Clinical development of specific therapeutic strategies for tumors associated with BRCA and Homologous recombination repair deficient tumors.
  • Testing new combinations of therapies for BRCA-associated PDXs that have progressed to PARP inhibitors.
  • Describe the yield of multigene panel testing in hereditary cancer syndromes and its impact on patient care.
  • Investigate the psychological impact of hereditary cancer multiplex gene testing in our Spanish population.
  • Reveal new breast/ovarian cancer susceptibility genes.
  • Discover genetic variants in non-coding DNA regions of breast/ovarian cancer susceptibility genes that may confer an increased risk.
  • Unveil the pathogenicity of variants of unknown significance in hereditary breast and ovarian cancer genes.
  • Identify cellular and genomic biomarkers as predictors of late toxicity after radiotherapy.

CURRENT OBJECTIVES

  • Development of specific new combination therapies for patients with hereditary cancer.
  • Analysis of the genotype-phenotype, clinical utility and long-term psychosocial impact of multigene analysis in hereditary syndromes.
  • Analyze the feasibility of incorporating low-risk alleles to improve cancer risk estimation and medical management in hereditary breast and ovarian cancer.
  • Perform a large case-control analysis of candidate genes selected from exome and panel analysis with familial breast cancer.
  • Functional (splicing) analysis of variants of unknown clinical significance disrupting exonic splicing enhancers in major genes associated with hereditary breast and ovary cancer.
  • Gene expression analysis in irradiated blood in patients with and without late complications after breast cancer radiotherapy.

TEAM

  • Principal Investigator
    • Judith Balmaña
  • Senior Scientists
    • Orland Díez
    • Sara Gutiérrez Enriquez
  • Post-Dctoral Fellow
    • Sandra Bonache
  • Graduate Students
    • Alejandro Moles
    • Gemma Montalban
  • Clinical Nurse Specialists
    • Neus Gadea
    • Bibiana Piqué
  • Genetic Counselors
    • Estela Carrasco
    • Adria López
  • Auxiliary Clinician
    • Carmen Aguilar
  • Data Curator
    • Sara Torres

Most relevant scientific publications

  • Feliubadaló L, López-Fernandez A, Pineda M, Díez O, del Valle J, Gutiérrez-Enriquez S, Teulé A, González S, Stjepanovic N, Salinas M, Capellà G, Brunet J, Lázaro C, and Balmaña J on behalf of the Catalan Hereditary Cancer Group. Opportunistic testing of BRCA1, BRCA2, and mismatch repair genes improves the yield of phenotype driven hereditary cancer gene panels. J. Cancer: 00, 00–00 (2019)
  • Montalban G, Bonache S, Moles-Fernández A, Gisbert-Beamud A, Tenés A, Bach V,Carrasco E, López-Fernández A, Stjepanovic N, Balmaña J, Diez O, Gutiérrez-Enríquez S. Screening of BRCA1/2 deep intronic regions by targeted gene sequencing identifies the first germline BRCA1 variant causing pseudoexon activation in a patient with breast/ovarian cancer. J Med Genet. 2019 Feb;56(2):63-74.
  • 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  Multigene panel testing beyond BRCA1/2 in breast/ovarian cancer Spanish families and clinical actionability of findings. J Cancer Res Clin Oncol. 2018 Dec;144(12):2495-2513.
  • 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. A RAD51 assay feasible in routine tumor samples calls PARP inhibitor response beyond BRCA mutation. EMBO Mol Med. 2018 Dec;10(12).
  • 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, Rodíguez O, Grueso J, Montalban G, Caratú G, Mancuso F, Fasani R, Jiménez J, Howat WJ, Dougherty B, Vivancos A, Nuciforo P, Serres-Creixams 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. RAD51 foci as a functional biomarker of homologus recombination repair and PARP inhibitor resistance in germline BRCA-mutated breast cancer. Ann Oncol. 2018 May 1;29(5): 1203-1210.
  • Cruz C, Llop-Guevara A, Garber JE, Arun BK, Pérez Fidalgo JA, Lluch A, Telli ML, Fernández C, Kahatt C, Galmarini CM, Soto-Matos A, Alfaro V, Pérez de la Haza A, Domchek SM, Antolin S, Vahdat L, Tung NM, Lopez R, Arribas J, Vivancos A, Baselga J, Serra V, Balmaña J, Isakoff SJ. Multicenter Phase II Study of Lurbinectedin in BRCA-Mutated and Unselected Metastatic Advanced Breast Cancer and Biomarker Assessment Substudy. J Clin Oncol. 2018 Nov 1;36(31):3134-3143.
  • 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-Enríque Computational Tools for Splicing Defect Prediction in Breast/Ovarian Cancer Genes: How Efficient Are They at Predicting RNA Alterations? Front Genet.2018 Sep 5;9:366
  • Esteban I, Vilaró M, Adrover E, Angulo N, Carrasco E, Gadea N, Sánchez A,Ocaña T, Llort G, Jover R, Cubiella J, Servitja S, Herráiz M, Cid L, Martínez S, Oruezábal-Moreno MJ, Garau I, Khorrami S, Herreros de Tejada A, Morales R, Cano JM, Serrano R, López-Ceballos MH, González-Santiago S, Juan-Fita MJ, Alonso-Cerezo C, Casas A, Graña-Suarez B, Teulé A, Alba E, Antón A, Guillén-Ponce C, Sánchez-Heras AB, Alés-Martínez JE, Brunet J, Balaguer F, Balmaña J. Psychological impact of multi-gene cancer panel testing in patients with a clinical suspicion of hereditary cancer across Spain. Psychooncology. 2018 Mar 2. doi: 10.1002/pon.4686. [Epub ahead of print].
  • 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. Decapping protein EDC4 regulates DNA repair and phenocopies BRCA1.Nat Commun. 2018 Mar 6;9(1):967
  • Balmaña J, Digiovanni L, Gaddam P, Walsh MF, Joseph V, Stadler ZK, Nathanson KL, Garber JE, Couch FJ, Offit K, Robson ME, Domcheck SM. Conflicting Interpretation of Genetic Variants and Cancer Risk by Commercial Laboratories as Assessed by the Prospective Registry of Multiplex Testing. J Clin Oncol. 2016 Dec; 34 (34): 4071-4078
  • Palauch-Shimon S, Cardoso F, Sessa C, Balmaña J, Cardoso MJ, Gilbert F, Senskus E. Prevention and screening in BRCA mutation carriers and other breast / cancer ovarian hereditary cancer syndromes: ESMO Clinical Practice Guidelines for cancer prevention and screening. ESMO Guidelines Committee. Ann Oncol. 2016 Sept; 27 (suppl 5): v103-v110.
  • 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 for prediction of radiotherapy late toxicity: lymphocyte subset sensitivity and potential effect of TP53 Arg72Pro polymorphism. Apoptosis. 2015 Mar;20(3):371-82.

All publications

  • Feliubadaló L, López-Fernández A, Pineda M, Díez O, Del Valle J, Gutiérrez-Enríquez S, Teulé A, González S, Stjepanovic N, Salinas M, Capellá G, Brunet J, Lázaro C, Balmaña J; Catalan Hereditary Cancer Group. Opportunistic testing of BRCA1, BRCA2 and mismatch repair genes improves the yield of phenotype driven hereditary cancer gene panels. Int J Cancer. 2019 Mar 29. doi:10.1002/ijc.32304. [Epub ahead of print] PubMed PMID: 30927264.
  • Montalban G, Bonache S, Moles-Fernández A, Gisbert-Beamud A, Tenés A, Bach V,Carrasco E, López-Fernández A, Stjepanovic N, Balmaña J, Diez O, Gutiérrez-Enríquez S. Screening of BRCA1/2 deep intronic regions by targeted gene sequencing identifies the first germline BRCA1 variant causing pseudoexon activation in a patient with breast/ovarian cancer. J Med Genet. 2019 Feb;56(2):63-7
  • Rita D Brandão, Klaas Mensaert, Irene López-Perolio, Demis Tserpelis, Markos Xenakis, Vanessa Lattimore, Logan C. Walker, Anders Kvist, Ana Vega, Sara Gutiérrez-Enríquez, Orland Díez, KConFaB Investigators, Miguel de la Hoya, Amanda B. Spurdle, Tim De Meyer, Marinus J. Blok Targeted RNA-seq successfully identifies normal and pathogenic splicing events in breast/ovarian cancer susceptibility and Lynch syndrome genes. Int J Cancer. 2019 Jan 8. doi: 10.1002/ijc.32114. [Epub ahead of print]
  • Rebbeck TR, Friebel TM, Friedman E, …, Balmaña J, Diez O, … Chenevix-Trench G, Spurdle AB, Antoniou AC, Nathanson KL. Mutational spectrum in a worldwide spectrum in a worldwide study of 29.700 families with BRCA1 or BRCA2 mutations. Hum Mutat. 2018 Feb 15.
  • Esteban I, Vilaró M, Adrover E, Angulo N, Carrasco E, Gadea N, Sánchez A, Ocaña T, Llort G, Jover R, Cubiella J, Servitja S, Herráiz M, Cid L, Martínez S, Oruezábal-Moreno MJ, Garau I, Khorrami S, Herreros de Tejada A, Morales R, Cano JM, Serrano R, López-Ceballos MH, González-Santiago S, Juan-Fita MJ, Alonso-Cerezo C, Casas A, Graña-Suarez B, Teulé A, Alba E, Antón A, Guillén-Ponce C, Sánchez-Heras AB, Alés-Martínez JE, Brunet J, Balaguer F, Balmaña J. Psychological impact of multi-gene cancer panel testing in patients with a clinical suspicion of hereditary cancer across Spain. 2018 Mar 2.
  • 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. Alternative transcript imbalance underlying breast cancer susceptibility in a family carrying PALB2 c.3201+5G>T. Breast Cancer Res Treat. 2018 Dec 14. doi: 10.1007/s10549-018-05094-8. [Epub ahead of print] PubMed PMID: 30552643.
  • Cedrés S, Felip E, Cruz C, Martinez de Castro A, Pardo N, Navarro A, Martinez-Marti A, Remon J, Zeron-Medina J, Balmaña J, Llop-Guevara A, Miquel JM, Sansano I, Nuciforo P, Mancuso F, Serra V, Vivancos A. Activity of HSP90 Inhibiton in a Metastatic Lung Cancer Patient With a Germline BRCA1 Mutation. J Natl Cancer Inst. 2018 Feb 26.
  • 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, Rodíguez O, Grueso J, Montalban G, Caratú G, Mancuso F, Fasani R, Jiménez J, Howat WJ, Dougherty B, Vivancos A, Nuciforo P, Serres-Creixams 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. RAD51 foci as a functional biomarker of homologus recombination repair and PARP inhibitor resistance in germline BRCA-mutated breast cancer. Ann Oncol. 2018 May 1;29(5): 1203-1210. 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. Decapping protein EDC4 regulates DNA repair and phenocopies BRCA1.Nat Commun. 2018 Mar 6;9(1):967
  • Calsina B, Currás-Freixes M, Buffet A, Pons T, Contreras L, Letón R, Comino-Méndez I, Remacha L, Calatayud, Obispo B, Martin A, Cihen R, Richter S, Balmaña J, Korpershoek E, Rapizzi E, Deutschbein T, Vroonen L, Favier J, de Krijger RR, Fassnacht M, Beuschlein F, Timmers HJ, Eisenhofer G, Mannelli M, Pacak K, Satrústegui J, Rodriguez-Antona C, Amar L, Cascón A, Dölker N, Giménez-Roqueplo AP, Robledo M. Role of MDH2 pathogenic variant in pheochromocytoma and paraganglioma patients. Genet Med. 2018 Jul 16
  • 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-Enríque Computational Tools for Splicing Defect Prediction in Breast/Ovarian Cancer Genes: How Efficient Are They at Predicting RNA Alterations? Front Genet.2018 Sep 5;9:366
  • 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. Characterization of spliceogenic variants located in regions linked to high levels of alternative splicing: BRCA2 c.7976+5G > T as a case study. Hum Mutat. 2018 Sep;39(9):1155-1160. doi: 10.1002/humu.23583. Epub 2018 Jul 13. PubMed PMID: 29969168.
  • Cruz C, Llop-Guevara A, Garber JE, Arun BK, Pérez Fidalgo JA, Lluch A, Telli ML, Fernández C, Kahatt C, Galmarini CM, Soto-Matos A, Alfaro V, Pérez de la Haza A, Domchek SM, Antolin S, Vahdat L, Tung NM, Lopez R, Arribas J, Vivancos A, Baselga J, Serra V, Balmaña J, Isakoff SJ. Multicenter Phase II Study of Lurbinectedin in BRCA-Mutated and Unselected Metastatic Advanced Breast Cancer and Biomarker Assessment Substudy. J Clin Oncol.2018 Nov 1;36(31):3134-3143.
  • Vangala DB, Cauchin E, Balmaña J, Wyrwicz L, van Cutsem E, Güller U, Castells A, Carneiro F, Hammel P, Ducreux M, van Laethem JL, Matysiak-Budnik T, Schmiegel W. Screening and surveillance in hereditary gastrointestinal cancers: Recommendations from the European Society of Digestive Oncology (ESDO) expert discussion at the 20th European Society for Medical Oncology (ESMO)/World Congress on Gastrointestinal Cancer, Barcelona, June 2018. Eur J Cancer.2018 Nov;104:91-103.
  • Hurvitz SA, Quek RGW, Turner NC, Telli ML, Rugo HS, Mailliez A, Ettl J, Grischke E, Mina LA, Balmaña J, Fasching PA, Bhattacharyya H, Hannah AL, Robson ME, Wardley AM. Quality of life with talazoparib after platinum or multiple cytotoxic non-platinum regimens in patients with advanced breast cancer and germline BRCA1/2 mutations: patient-reported outcomes from the ABRAZO phase 2 trial. Eur J Cancer.2018 Nov;104:160-168.
  • 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. A RAD51 assay feasible in routine tumor samples calls PARP inhibitor response beyond BRCA mutation. EMBO Mol Med.2018 Dec;10(12).
  • 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.  Multigene panel testing beyond BRCA1/2 in breast/ovarian cancer Spanish families and clinical actionability of findings. J Cancer Res Clin Oncol.2018 Dec;144(12):2495-2513.
  • Burke LJ, Sevcik J, Gambino G, …, Diez O, … Caligo M, Spurdle AB, Brown MA. BRCA1 and BRCA2 5′ noncoding region variants identified in breast cancer patients alter promoter activity and protein binding. Hum Mutat. 2018 Dec;39(12):2025-2039.
  • Qian F, Wang S, Mitchell J, … Diez O, ….Chenevix-Trench G, Antoniou AC, Goldgar DE, Olopade OI, Rebbeck TR, Huo D. Height and Body Mass Index as Modifiers of Breast Cancer Risk in BRCA1/2 Mutation Carriers: A Mendelian Randomization Study. J Natl Cancer Inst. 2018 Oct 12.
  • Lu Y, Beeghly-Fadiel A, Wu L, ….. Diez O, ….Sellers TA, Pharoah PDP, Zheng W, Long J. A. Transcriptome-Wide Association Study Among 97,898 Women to Identify Candidate Susceptibility Genes for Epithelial Ovarian Cancer Risk. Cancer Res. 2018 Sep 15;78(18):5419-5430.
  • Soto JL, Blanco I, Díez O, García Planells J, Lorda I, Matthijs G, Robledo M, Souche E, Lázaro C. Consensus document on the implementation of next generation sequencing in the genetic diagnosis of hereditary cancer. Med Clin (Barc). 2018 Jul 23;151(2).
  • 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). 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. Radiother Oncol. 2016 Dec;121(3):431-439.
  • 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. Naturally occurring BRCA2 alternative mRNA splicing events in clinically relevant samples. J Med Genet. 2016 Aug;53(8):548-58.
  • 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 for prediction of radiotherapy late toxicity: lymphocyte subset sensitivity and potential effect of TP53 Arg72Pro polymorphism. 2015 Mar;20(3):371-82
  • Balmaña J, Digiovanni L, Gaddam P, Walsh MF, Joseph V, Stadler ZK, Nathanson KL, Garber JE, Couch FJ, Offit K, Robson ME, Domchek SM. Conflicting Interpretation of Genetic Variants and Cancer Risk by Commercial Laboratories as Assessed by the Prospective Registry of Multiplex Testing. J Clin Oncol.2016 Dec;34(34):4071-4078.
  • CDK12 Inhibition Reverses De Novo and Acquired PARP Inhibitor Resistance in BRCA Wild-Type and Mutated Models of Triple-Negative Breast Cancer. Johnson SF, Cruz C, Greifenberg AK, Dust S, Stover DG, Chi D, Primack B, Cao S, Bernhardy AJ, Coulson R, Lazaro JB, Kochupurakkal B, Sun H, Unitt C, Moreau LA, Sarosiek KA, Scaltriti M, Juric D, Baselga J, Richardson AL, Rodig SJ, D’Andrea AD, Balmaña J, Johnson N, Geyer M, Serra V, Lim E, Shapiro GI. Cell Rep. 2016 Nov 22;17(9):2367-2381.
  • Prevention and screening in BRCA mutation carriers and other breast/ovarian hereditary cancer syndromes: ESMO Clinical Practice Guidelines for cancer prevention and screening. Paluch-Shimon S, Cardoso F, Sessa C, Balmana J, Cardoso MJ, Gilbert F, Senkus E; ESMO Guidelines Committee. Ann Oncol. 2016 Sep;27(suppl 5):v103-v110.
  • Conflicting Interpretation of Genetic Variants and Cancer Risk by Commercial Laboratories as Assessed by the Prospective Registry of Multiplex Testing. Balmaña J, Digiovanni L, Gaddam P, Walsh MF, Joseph V, Stadler ZK, Nathanson KL, Garber JE, Couch FJ, Offit K, Robson ME, Domchek SM. J Clin Oncol. 2016 Dec;34(34):4071-4078.
  • BRCA1185delAG tumors may acquire therapy resistance through expression of RING-less BRCA1. Drost R, Dhillon KK, van der Gulden H, van der Heijden I, Brandsma I, Cruz C, Chondronasiou D, Castroviejo-Bermejo M, Boon U, Schut E, van der Burg E, Wientjens E, Pieterse M, Klijn C, Klarenbeek S, Loayza-Puch F, Elkon R, van Deemter L, Rottenberg S, van de Ven M, Dekkers DH, Demmers JA, van Gent DC, Agami R, Balmaña J, Serra V, Taniguchi T, Bouwman P, Jonkers J. J Clin Invest. 2016 Aug 1;126(8):2903-18.
  • The BRCA1-Δ11q Alternative Splice Isoform Bypasses Germline Mutations and Promotes Therapeutic Resistance to PARP Inhibition and Cisplatin. Wang Y, Bernhardy AJ, Cruz C, Krais JJ, Nacson J, Nicolas E, Peri S, van der Gulden H, van der Heijden I, O’Brien SW, Zhang Y, Harrell MI, Johnson SF, Candido Dos Reis FJ, Pharoah PD, Karlan B, Gourley C, Lambrechts D, Chenevix-Trench G, Olsson H, Benitez JJ, Greene MH, Gore M, Nussbaum R, Sadetzki S, Gayther SA, Kjaer SK; kConFab Investigators., D’Andrea AD, Shapiro GI, Wiest DL, Connolly DC, Daly MB, Swisher EM, Bouwman P, Jonkers J, Balmaña J, Serra V, Johnson N. Cancer Res. 2016 May 1;76(9):2778-90.
  • Male breast cancer in BRCA1 and BRCA2 mutation carriers: pathology data from the Consortium of Investigators of Modifiers of BRCA1/2. Silvestri V, Barrowdale D, Mulligan AM, Neuhausen SL, Fox S, Karlan BY, Mitchell G, James P, Thull DL, Zorn KK, Carter NJ, Nathanson KL, Domchek SM, Rebbeck TR, Ramus SJ, Nussbaum RL, Olopade OI, Rantala J, Yoon SY, Caligo MA, Spugnesi L, Bojesen A, Pedersen IS, Thomassen M, Jensen UB, Toland AE, Senter L, Andrulis IL, Glendon G, Hulick PJ, Imyanitov EN, Greene MH, Mai PL, Singer CF, Rappaport-Fuerhauser C, Kramer G, Vijai J, Offit K, Robson M, Lincoln A, Jacobs L, Machackova E, Foretova L, Navratilova M, Vasickova P, Couch FJ, Hallberg E, Ruddy KJ, Sharma P, Kim SW; kConFab Investigators., Teixeira MR, Pinto P, Montagna M, Matricardi L, Arason A, Johannsson OT, Barkardottir RB, Jakubowska A, Lubinski J, Izquierdo A, Pujana MA, Balmaña J, Diez O, Ivady G, Papp J, Olah E, Kwong A; Hereditary Breast and Ovarian Cancer Research Group Netherlands (HEBON)., Nevanlinna H, Aittomäki K, Perez Segura P, Caldes T, Van Maerken T, Poppe B, Claes KB, Isaacs C, Elan C, Lasset C, Stoppa-Lyonnet D, Barjhoux L, Belotti M, Meindl A, Gehrig A, Sutter C, Engel C, Niederacher D, Steinemann D, Hahnen E, Kast K, Arnold N, Varon-Mateeva R, Wand D, Godwin AK, Evans DG, Frost D, Perkins J, Adlard J, Izatt L, Platte R, Eeles R, Ellis S; EMBRACE., Hamann U, Garber J, Fostira F, Fountzilas G, Pasini B, Giannini G, Rizzolo P, Russo A, Cortesi L, Papi L, Varesco L, Palli D, Zanna I, Savarese A, Radice P, Manoukian S, Peissel B, Barile M, Bonanni B, Viel A, Pensotti V, Tommasi S, Peterlongo P, Weitzel JN, Osorio A, Benitez J, McGuffog L, Healey S, Gerdes AM, Ejlertsen B, Hansen TV, Steele L, Ding YC, Tung N, Janavicius R, Goldgar DE, Buys SS, Daly MB, Bane A, Terry MB, John EM, Southey M, Easton DF, Chenevix-Trench G, Antoniou AC, Ottini L. Breast Cancer Res. 2016 Feb 9;18(1):15.
  • 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.
  • Efficacy and safety of olaparib monotherapy in germline BRCA1/2 mutation carriers with advanced ovarian cancer and three or more lines of prior therapy. Domchek SM, Aghajanian C, Shapira-Frommer R, Schmutzler RK, Audeh MW, Friedlander M, Balmaña J, Mitchell G, Fried G, Stemmer SM, Hubert A, Rosengarten O, Loman N, Robertson JD, Mann H, Kaufman B. Gynecol Oncol. 2016 Feb;140(2):199-203.
  • Domchek SM, Aghajanian C, Shapira-Frommer R, Schmutzler RK, Audeh MW, Friedlander M, Balmaña J, Mitchell G, Fried G, Stemmer SM, Hubert A, Rosengarten O, Loman N, Robertson JD, Mann H, Kaufman B.  Efficacy and safety of olaparib monotherapy in germline BRCA1/2 mutation carriers with advanced ovarian cancer and three or more lines of prior therapy. Gynecol. Oncol. 2016 Feb; 140(2): 199-203
  • Kaufman B, Shapira-Frommer R, Schmutzler RK, Audeh MW, Friedlander M, Balmaña J, Mitchell G, Fried G, Stemmer SM, Hubert A, Rosengarten O, Steiner M, Loman N, Bowen K, Fielding A, Domchek SM.  Olaparib monotherapy in patients with advanced cancer and a germline BRCA1/2 mutation. J. Clin. Oncol. 2015 Jan; 33(3): 244-50
  • Llombart-Cussac A, Bermejo B, Villanueva C, Delaloge S, Morales S, Balmaña J, Amillano K, Bonnefoi H, Casas A, Manso L, Roché H, Gonzalez-Santiago S, Gavilá J, Sanchez-Rovira P, Di Cosimo S, Harbeck N, Charpentier E, Garcia-Ribas I, Radosevic-Robin N, Aura C, Baselga J.  SOLTI NeoPARP: a phase II randomized study of two schedules of iniparib plus paclitaxel versus paclitaxel alone as neoadjuvant therapy in patients with triple-negative breast cancer. Breast Cancer Res. Treat. 2015 Nov; 154(2): 351-7
  • Ramón Y Cajal T, Chirivella I, Miranda J, Teulé A, Izquierdo A, Balmaña J, Sánchez-Heras AB, Llort G, Fisas D, Lope V, Hernández-Agudo E, Juan-Fita MJ, Tena I, Robles L, Guillén-Ponce C, Pérez-Segura P, Luque-Molina MS, Hernando-Polo S, Salinas M, Brunet J, Salas-Trejo MD, Barnadas A, Pollán M.  Mammographic density and breast cancer in women from high risk families. Breast Cancer Res. 2015; 17: 93
  • Aguirre E, Graña B, Boudet M, Balmaña J.  Screening for Lynch syndrome among patients with newly diagnosed endometrial cancer: a comprehensive review. Tumori 2015 Jul; Balmaña J, Domchek SM.  BRIP1 as an ovarian cancer susceptibility gene: ready for the clinic? J. Natl. Cancer Inst. 2015 Nov; 107(11)
  • Llort G, Chirivella I, Morales R, Serrano R, Sanchez AB, Teulé A, Lastra E, Brunet J, Balmaña J, Graña B.  SEOM clinical guidelines in Hereditary Breast and ovarian cancer. Clin Transl Oncol 2015 Dec; 17(12): 956-61
  • Cibula D, Balmaña J.  PARP inhibitors in ovarian cancer. Br. J. Cancer 2015 Dec; 113 Suppl 1: S1-2
  • Andrés R, Pajares I, Balmaña J, Llort G, Ramón Y Cajal T, Chirivella I, Aguirre E, Robles L, Lastra E, Pérez-Segura P, Bosch N, Yagüe C, Lerma E, Godino J, Miramar MD, Moros M, Astier P, Saez B, Vidal MJ, Arcusa A, Ramón y Cajal S, Calvo MT, Tres A.  Association of BRCA1 germline mutations in young onset triple-negative breast cancer (TNBC). Clin Transl Oncol 2014 Mar; 16(3): 280-4
  • 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, Diaz-Rubio E, Balmaña J, Lasa A, Vega A, Benítez J, de la Hoya M, Diez O. About 1% of the breast and ovarian Spanish families testing negative for BRCA1 and BRCA2 are carriers of RAD51D pathogenic variants. Int. J. Cancer 2014 May; 134(9): 2088-97
  • 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. Comprehensive annotation of splice junctions supports pervasive alternative splicing at the BRCA1 locus: a report from the ENIGMA consortium. Hum Mol Genet. 2014 Jul 15;23(14):3666-80
  • 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. Radiogenomics: radiobiology enters the era of big data and team science. Int J Radiat Oncol Biol Phys. 2014 Jul 15;89(4):709-13.
  • 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. Comparison of mRNA splicing assay protocols across multiple laboratories: recommendations for best practice in standardized clinical testing. Clin Chem. 2014 Feb;60(2):341-52.
  • 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. Capillary electrophoresis analysis of conventional splicing assays: IARC analytical and clinical classification of 31 BRCA2 genetic variants. Hum Mutat. 2014 Jan;35(1):53-7.
  • Prat A, Cruz C, Hoadley KA, Diez O, Perou CM, Balmaña J.  Molecular features of the basal-like breast cancer subtype based on BRCA1 mutation status. Breast Cancer Res. Treat. 2014 Aug; 147(1): 185-91
  • Balmaña J, Tung NM, Isakoff SJ, Graña B, Ryan PD, Saura C, Lowe ES, Frewer P, Winer E, Baselga J, Garber JE.  Phase I trial of olaparib in combination with cisplatin for the treatment of patients with advanced breast, ovarian and other solid tumors. Ann. Oncol. 2014 Aug; 25(8): 1656-63
  • Guarinos C, Juárez M, Egoavil C, Rodríguez-Soler M, Pérez-Carbonell L, Salas R, Cubiella J, Rodríguez-Moranta F, de-Castro L, Bujanda L, Serradesanferm A, Nicolás-Pérez D, Herraiz M, Fernández-Bañares F, Herreros-de-Tejada A, Aguirre E, Balmaña J, Rincón ML, Pizarro A, Polo-Ortiz F, Castillejo A, Alenda C, Payá A, Soto JL, Jover R.  Prevalence and characteristics of MUTYH-associated polyposis in patients with multiple adenomatous and serrated polyps. Clin. Cancer Res. 2014 Mar; 20(5): 1158-68
  • Oliveira M, Cortes J, Bellet M, Balmaña J, De Mattos-Arruda L, Gómez P, Muñoz E, Ortega V, Pérez J, Saura C, Vidal M, Rubio IT, Di Cosimo S.  Management of the axilla in early breast cancer patients in the genomic era. Ann. Oncol. 2013 May; 24(5): 1163-70
  • Bonache S, Gutiérrez-Enríquez S, Tenés A, Masas M, Balmaña J, Diez O.  Mutation analysis of the BCCIP gene for breast cancer susceptibility in breast/ovarian cancer families. Gynecol. Oncol. 2013 Nov; 131(2): 460-3
  • Balmaña J, Balaguer F, Cervantes A, Arnold D.  Familial risk-colorectal cancer: ESMO Clinical Practice Guidelines. Ann. Oncol. 2013 Oct; 24 Suppl 6: vi73-80
  • Bonache S, de la Hoya M, Gutiérrez-Enríquez S, Tenés A, Masas M, Balmaña J, Diez O.  Mutation analysis of the SHFM1 gene in breast/ovarian cancer families. J. Cancer Res. Clin. Oncol. 2013 Mar; 139(3): 529-32
  • Blanco A, de la Hoya M, Osorio A, Diez O, Miramar MD, Infante M, Martínez-Bouzas C, Torres A, Lasa A, Llort G, Brunet J, Graña B, Perez Segura P, García MJ, Gutiérrez-Enríquez S, Carracedo A, Tejada MI, Velasco EA, Calvo MT, Balmaña J, Benítez J, Caldés T, Vega A.  Analysis of PALB2 gene in BRCA1/BRCA2 negative Spanish hereditary breast/ovarian cancer families with pancreatic cancer cases.PLoS ONE 2013; 8(7): e67538
  • Kastrinos F, Balmaña J, Syngal S.  Prediction models in Lynch syndrome. Fam. Cancer 2013 Jun; 12(2): 217-28
  • Kastrinos F, Steyerberg EW, Balmaña J, Mercado R, Gallinger S, Haile R, Casey G, Hopper JL, LeMarchand L, Lindor NM, Newcomb PA, Thibodeau SN, Syngal S.  Comparison of the clinical prediction model PREMM(1,2,6) and molecular testing for the systematic identification of Lynch syndrome in colorectal cancer. Gut 2013 Feb; 62(2): 272-9
  • Guarinos C, Sánchez-Fortún C, Rodríguez-Soler M, Pérez-Carbonell L, Egoavil C, Juárez M, Serradesanferm A, Bujanda L, Fernández-Bañares F, Cubiella J, de-Castro L, Guerra A, Aguirre E, Herreros-de-Tejada A, Bessa X, Herraiz M, Marín-Gabriel JC, Balmaña J, Cuatrecasas M, Balaguer F, Castells A, Soto JL, Alenda C, Payá A, Jover R.  Clinical subtypes and molecular characteristics of serrated polyposis syndrome. Clin. Gastroenterol. Hepatol. 2013 Jun; 11(6): 705-11; quiz e46
  • Campos B, Balmaña J, Gardenyes J, Valenzuela I, Abad O, Fàbregas P, Volpini V, Diez O.  Germline mutations in NF1 and BRCA1 in a family with neurofibromatosis type 1 and early-onset breast cancerBreast Cancer Res Treat 2013; 139: 597-602
  • Robles L, Balmaña J, Barrel, I., Grandes, S, Graña B, Guillén C, Marcos, H, Ramírez, D, Redondo, E, Sanchez JJ.  Consenso en cáncer hereditario entre la Sociedad Española de Oncología Médica y las sociedades de atención primaria. Semergen 2013; 39: 259-266
  • Graña B, Fernández, N, Balmaña J.  The role of platinum compounds for the treatment of breast cancer.Current Breast Cancer Reports 2013; 5: 11-22
  • Bosch N, Junyent N, Gadea N, Brunet J, Ramón Y Cajal T, Torres A, Graña B, Velasco A, Darder E, Mensa I, Balmaña J.  What factors may influence psychological well being at three months and one year post BRCA genetic result disclosure? Breast 2012 Dec; 21(6): 755-60
  • 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. Individual patient data meta-analysis shows no association between the SNP rs1800469 in TGFB and late radiotherapy toxicity. Radiother Oncol. 2012 Dec;105(3):289-95.
  • Borràs E, Pineda M, Brieger A, Hinrichsen I, Gómez C, Navarro M, Balmaña J, Ramón Y Cajal T, Torres A, Brunet J, Blanco I, Plotz G, Lázaro C, Capellá G.  Comprehensive functional assessment of MLH1 variants of unknown significance. Hum. Mutat. 2012 Nov; 33(11): 1576-88
  • Blanco A, de la Hoya M, Balmaña J, Ramón Y Cajal T, Teulé A, Miramar MD, Esteban E, Infante M, Benítez J, Torres A, Tejada MI, Brunet J, Graña B, Balbín M, Pérez-Segura P, Osorio A, Velasco EA, Chirivella I, Calvo MT, Feliubadaló L, Lasa A, Diez O, Carracedo A, Caldés T, Vega A.  Detection of a large rearrangement in PALB2 in Spanish breast cancer families with male breast cancer. Breast Cancer Res. Treat. 2012 Feb; 132(1): 307-15
  • 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. Characterization of BRCA1 and BRCA2 splicing variants: a collaborative report by ENIGMA consortium members. Breast Cancer Res. Treat. 2012 Apr; 132(3): 1009-23
  • Juvekar A, Burga LN, Hu H, Lunsford EP, Ibrahim YH, Balmaña J, Rajendran A, Papa A, Spencer K, Lyssiotis CA, Nardella C, Pandolfi PP, Baselga J, Scully R, Asara JM, Cantley LC, Wulf GM.  Combining a PI3K inhibitor with a PARP inhibitor provides an effective therapy for BRCA1-related breast cancer.Cancer Discov 2012 Nov; 2(11): 1048-63
  • Ruiz de Garibay G, Gutiérrez-Enríquez S, Garre P, Bonache S, Romero A, Palomo L, Sanchez de Abajo A, Benítez J, Balmaña J, Pérez-Segura P, Diaz-Rubio E, Diez O, Caldés T, de la Hoya M. 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.Breast Cancer Res. Treat. 2012 May; 133(1): 273-83
  • Kastrinos F, Steyerberg EW, Mercado R, Balmaña J, Holter S, Gallinger S, Siegmund KD, Church JM, Jenkins MA, Lindor NM, Thibodeau SN, Burbidge LA, Wenstrup RJ, Syngal S.  The PREMM(1,2,6) model predicts risk of MLH1, MSH2, and MSH6 germline mutations based on cancer history.Gastroenterology 2011 Jan; 140(1): 73-81
  • Gutiérrez-Enríquez S, Ramón Y Cajal T, Alonso C, Corral A, Carrasco P, Cornet M, Sanz J, Ribas M, Baiget M, Diez O. Ionizing radiation or mitomycin-induced micronuclei in lymphocytes of BRCA1 or BRCA2 mutation carriers. Breast Cancer Res Treat. 2011 Jun;127(3):611-22
  • 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. Spectrum of BRCA1/2 point mutations and genomic rearrangements in high-risk breast/ovarian cancer Chilean families. Breast Cancer Res Treat. 2011 Apr;126(3):705-16
  • 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, Borrás J, Gutiérrez-Enríquez S, Vega A, Brunet J.  Germline ATM mutational analysis in BRCA1/BRCA2 negative hereditary breast cancer families by MALDI-TOF mass spectrometry. Breast Cancer Res. Treat. 2011 Jul; 128(2): 573-9
  • Serrano C, Alonso J, Gómez-Mariano G, Aguirre E, Diez O, Gadea N, Bosch N, Balmaña J, Graña B. Low penetrance hereditary retinoblastoma in a family: what should we consider in the genetic counselling process and follow up? Fam. Cancer 2011 Sep; 10(3): 617-21
  • Domchek SM, Mitchell G, Lindeman GJ, Tung NM, Balmaña J, Isakoff SJ, Schmutzler R, Audeh MW, Loman N, Scott C, Friedlander M, Kaufman B, Garber JE, Tutt A, Robson ME.  Challenges to the development of new agents for molecularly defined patient subsets: lessons from BRCA1/2-associated breast cancer. J. Clin. Oncol. 2011 Nov; 29(32): 4224-6
  • Bonifaci N, Palafox M, Pellegrini P, Osorio A, Benítez J, Peterlongo P, Manoukian S, Peissel B, Zaffaroni D, Roversi G, Barile M, Viel A, Mariette F, Bernard L, Radice P, Kaufman B, Laitman Y, Milgrom R, Friedman E, Sáez ME, Climent F, Soler MT, Diez O, Balmaña J, Lasa A, Ramón Y Cajal T, Miramar MD, de la Hoya M, Pérez-Segura P, Caldés T, Moreno V, Urruticoechea A, Brunet J, Lázaro C, Blanco I, Pujana MA, González-Suárez E.  Evidence for a link between TNFRSF11A and risk of breast cancer. Breast Cancer Res. Treat. 2011 Oct; 129(3): 947-54
  • Balmaña J, Domchek SM, Tutt A, Garber JE.  Stumbling blocks on the path to personalized medicine in breast cancer: the case of PARP inhibitors for BRCA1/2-associated cancers. Cancer Discov 2011 Jun; 1(1): 29-34
  • Balmaña J, Diez O, Rubio IT, Cardoso F.  BRCA in breast cancer: ESMO Clinical Practice Guidelines.Ann. Oncol. 2011 Sep; 22 Suppl 6: vi31-4
  • Diez O, Pelegrí A, Gadea N, Gutiérrez-Enríquez S, Masas M, Tenés A, Bosch N, Balmaña J, Graña B. Novel BRCA1 deleterious mutation (c.1949_1950delTA) in a woman of Senegalese descent with triple-negative early-onset breast cancer. Oncol Lett 2011 Nov; 2(6): 1287-1289
  • 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, Lázaro 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, Duran M, Miramar MD, Valle AR, Calvo MT, Vega A, Blanco A, Diez O, Gutiérrez-Enríquez S, Balmaña J, Ramón 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.  International distribution and age estimation of the Portuguese BRCA2 c.156_157insAlu founder mutation. Breast Cancer Res. Treat. 2011 Jun; 127(3): 671-9
  • Balmaña J, Diez O, Rubio I, Castiglione M.  BRCA in breast cancer: ESMO Clinical Practice Guidelines.Ann. Oncol. 2010 May; 21 Suppl 5: v20-2
  • Diez O, Gutiérrez-Enríquez S, Masas M, Tenés A, Yagüe C, Arcusa A, Llort G. Identification of a new complex deleterious mutation in exon 18 of the BRCA2 gene in a hereditary male/female breast cancer family. Breast Cancer Res Treat. 2010 Sep;123(2):587-90
  • Sanz J, Ramón Y Cajal T, Torres A, Darder E, Gadea N, Velasco A, Fortuny D, López C, Fisas D, Brunet J, Alonso MC, Balmaña J.  Uptake of predictive testing among relatives of BRCA1 and BRCA2 families: a multicenter study in northeastern Spain. Fam. Cancer 2010 Sep; 9(3): 297-304
  • Diez O, Gutiérrez-Enríquez S, Balmaña J.  Heterogeneous prevalence of recurrent BRCA1 and BRCA2 mutations in Spain according to the geographical area: implications for genetic testing. Fam. Cancer 2010 Jun; 9(2): 187-91
  • Diez O, Gutiérrez-Enríquez S, Mediano C, Masas M, Saura C, Gadea N, Balmaña J.  A novel de novo BRCA2 mutation of paternal origin identified in a Spanish woman with early onset bilateral breast cancer. Breast Cancer Res. Treat. 2010 May; 121(1): 221-5
  • Pierce LJ, Phillips KA, Griffith KA, Buys S, Gaffney DK, Moran MS, Haffty BG, Ben-David M, Kaufman B, Garber JE, Merajver SD, Balmaña J, Meirovitz A, Domchek SM.  Local therapy in BRCA1 and BRCA2 mutation carriers with operable breast cancer: comparison of breast conservation and mastectomy. Breast Cancer Res. Treat. 2010 Jun; 121(2): 389-98
  • Quispe I, Balmaña J.  [Predictive models for identification of germline mutation carriers in Lynch syndrome]. Med Clin (Barc) 2010 Apr; 134(9): 412-7
  • Milne RL, Osorio A, Ramón Y Cajal T, Baiget M, Lasa A, Diaz-Rubio E, de la Hoya M, Caldés T, Teulé A, Lázaro C, Blanco I, Balmaña J, Sánchez-Ollé G, Vega A, Blanco A, Chirivella I, Esteban Cardeñosa E, Duran M, Velasco E, Martínez de Dueñas E, Tejada MI, Miramar MD, Calvo MT, Guillén-Ponce C, Salazar R, San Román C, Urioste M, Benítez J.  Parity and the risk of breast and ovarian cancer in BRCA1 and BRCA2 mutation carriers. Breast Cancer Res. Treat. 2010 Jan; 119(1): 221-32
  • Balmaña J, Castells A, Cervantes A.  Familial colorectal cancer risk: ESMO Clinical Practice Guidelines.Ann. Oncol. 2010 May; 21 Suppl 5: v78-81
  • Borràs E, Pineda M, Blanco I, Jewett EM, Wang F, Teulé A, Caldés T, Urioste M, Martínez-Bouzas C, Brunet J, Balmaña J, Torres A, Ramón Y Cajal T, Sanz J, Pérez-Cabornero L, Castellví-Bel S, Alonso A, Lanas A, González S, Moreno V, Gruber SB, Rosenberg NA, Mukherjee B, Lázaro C, Capellá G. MLH1 founder mutations with moderate penetrance in Spanish Lynch syndrome families. Cancer Res. 2010 Oct; 70(19): 7379-91
  • Balmaña J, Diez O, Castiglione M.  BRCA in breast cancer: ESMO clinical recommendations. Ann. Oncol. 2009 May; 20 Suppl 4: 19-20
  • Kastrinos F, Allen JI, Stockwell DH, Stoffel EM, Cook EF, Mutinga ML, Balmaña J, Syngal S. Development and validation of a colon cancer risk assessment tool for patients undergoing colonoscopy.Am. J. Gastroenterol. 2009 Jun; 104(6): 1508-18
  • Fortuny D, Balmaña J, Graña B, Torres A, Ramón Y Cajal T, Darder E, Gadea N, Velasco A, López C, Sanz J, Alonso C, Brunet J.  Opinion about reproductive decision making among individuals undergoing BRCA1/2 genetic testing in a multicentre Spanish cohort. Hum. Reprod. 2009 Apr; 24(4): 1000-6
  • Díez O, Gutiérrez-Enríquez S. BRCA2 splice site mutations in an Italian breast/ovarian cancer family. Ann Oncol. 2009 Jul;20(7):1285; author reply 1285-6. doi: 10.1093/annonc/mdp316. PubMed PMID: 19542536.
  • Brunet J, Gutiérrez-Enríquez S, Torres A, Bérez V, Sanjosé S, Galceran J, Izquierdo A, Menéndez JA, Gumà J, Borràs J. ATM germline mutations in Spanish early-onset breast cancer patients negative for BRCA1/BRCA2 mutations. Clin Genet. 2008 May;73(5):465-73. doi: 10.1111/j.1399-0004.2008.00987.x. Epub 2008 Apr 2. PubMed PMID: 18384426.
  • Gutiérrez-Enríquez S, Coderch V, Masas M, Balmaña J, Diez O.  The variants BRCA1 IVS6-1G>A and BRCA2 IVS15+1G>A lead to aberrant splicing of the transcripts. Breast Cancer Res. Treat. 2009 Sep; 117(2): 461-5
  • Balmaña J, Balaguer F, Castellví-Bel S, Steyerberg EW, Andreu M, Llor X, Jover R, Castells A, Syngal S.  Comparison of predictive models, clinical criteria and molecular tumour screening for the identification of patients with Lynch syndrome in a population-based cohort of colorectal cancer patients. J. Med. Genet. 2008 Sep; 45(9): 557-63
  • Febrer E, Mestres M, Caballín MR, Barrios L, Ribas M, Gutiérrez-Enríquez S, Alonso C, Ramón y Cajal T, Francesc Barquinero J. Mitotic delay in lymphocytes from BRCA1 heterozygotes unable to reduce the radiation-induced chromosomal damage. DNA Repair (Amst). 2008 Nov 1;7(11):1907-11
  • Díez O, Gutiérrez-Enríquez S, Ramón y Cajal T, Alonso C, Balmaña J, Llort G. Caution should be used when interpreting alterations affecting the exon 3 of the BRCA2 gene in breast/ovarian cancer families. J Clin Oncol. 2007 Nov 1;25(31):5035-6
  • 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. Screening for large rearrangements of the BRCA2 gene in Spanish families with breast/ovarian cancer. Breast Cancer Res Treat. 2007 May;103(1):103-7
  • Balmaña J, Stockwell DH, Steyerberg EW, Stoffel EM, Deffenbaugh AM, Reid JE, Ward B, Scholl T, Hendrickson B, Tazelaar J, Burbidge LA, Syngal S.  Prediction of MLH1 and MSH2 mutations in Lynch syndrome. JAMA 2006 Sep; 296(12): 1469-78
  • 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. Genomic rearrangements at the BRCA1 locus in Spanish families with breast/ovarian cancer. Clin Chem. 2006 Aug;52(8):1480-5
  • Díez O, Gutiérrez-Enríquez S, Ramón y Cajal T. [Breast cancer susceptibility genes]. Med Clin (Barc). 2006 Mar 4;126(8):304-10. Review. Spanish. PubMed PMID: 16527158.
  • Gutiérrez-Enríquez S, Fernet M, Dörk T, Bremer M, Lauge A, Stoppa-Lyonnet D, Moullan N, Angèle S, Hall J. Functional consequences of ATM sequence variants for chromosomal radiosensitivity. Genes Chromosomes Cancer. 2004 Jun;40(2):109-19. PubMed PMID: 15101044.
  • Gemignani F, Moreno V, Landi S, Moullan N, Chabrier A, Gutiérrez-Enríquez S, Hall J, Guino E, Peinado MA, Capella G, Canzian F. A TP53 polymorphism is associated with increased risk of colorectal cancer and with reduced levels of TP53 mRNA. Oncogene. 2004 Mar 11;23(10):1954-6. PubMed PMID: 14647431