Biosketch Judith Balmaña

Judith Balmaña

jbalmana@vhio.net

Current position

Group Leader of VHIO´s Hereditary Cancer Genetics Group
Specialist in Medical Oncology at the Vall d’Hebron University Hospital

Honors amb Membership

Member of the Spanish Society of Medical Oncology (SEOM), ESMO and ASCO
Prior member of the board of the SEOM Hereditary Cancer Section
Member of the breast cancer cooperative group SOLTI
Coordinator of the family cancer module of the Master’s Degree in Genetic Counselling at Universitat Autònoma de Barcelona (UAB).

Academic Qualifications

Degree in Medicine and Surgery from the University of Barcelona, 1995
Doctorate in Medicine from the Universitat Autònoma de Barcelona, 2009

Prizes and Scholarships

Scholarship for a clinical fellowship at the High Risk clinics at Dana Farber Cancer Institute, Boston, Mass. USA.
Scholarship for a Visiting Scholar at the Basser Center at the Abramson Cancer Center, Philadelphia, Pennsylvania, USA
Award to Professional Excelence by COMB 2015 (Col•legi Oficial de Metges de Barcelona)
II M. Chiara Giorgetti Award, 2021 (Metastatic Breast Cancer Association). Project title: Identification of patients with metastatic breast cancer sensitive to PARP inhibitors: study in patients with hereditary variants of uncertain significance and in new genes involved in homologous recombination.

Most relevant scientific publications

Carrasco E, López-Fernández A, Codina-Sola M, Valenzuela I, Cueto-González AM, Villacampa G, Navarro V, Torres-Esquius S, Palau D, Cruellas M, Torres M, Perez-Dueñas B, Abulí A, Diez O, Sábado-Álvarez C, García-Arumí E, Tizzano EF, Moreno L, Balmaña J. Clinical and psychological implications of secondary and incidental findings in cancer susceptibility genes after exome sequencing in patients with rare disorders. J Med Genet. 2023 Jul;60(7):685-691.
López-Fernández A, Villacampa G, Salinas M, Grau E, Darder E, Carrasco E, Solanes A, Velasco A, Torres M, Munté E, Iglesias S, Torres-Esquius S, Tuset N, Diez O, Lázaro C, Brunet J, Corbella S, Balmaña J. Role of psychological background in cancer susceptibility genetic testing distress: It is not only about a positive result. J Genet Couns. 2023 Aug;32(4):778-787.
Garcia-Pelaez J, Barbosa-Matos R, Lobo S, Dias A, Garrido L, Castedo S, Sousa S, Pinheiro H, Sousa L, Monteiro R, Maqueda JJ, Fernandes S, Carneiro F, Pinto N, Lemos C, Pinto C, Teixeira MR, Aretz S, Bajalica-Lagercrantz S, Balmaña J, Blatnik A, Benusiglio PR, Blanluet M, Bours V, Brems H, Brunet J, Calistri D, Capellá G, Carrera S, Colas C, Dahan K, de Putter R, Desseignés C, Domínguez-Garrido E, Egas C, Evans DG, Feret D, Fewings E, Fitzgerald RC, Coulet F, Garcia-Barcina M, Genuardi M, Golmard L, Hackmann K, Hanson H, Holinski-Feder E, Hüneburg R, Krajc M, Lagerstedt-Robinson K, Lázaro C, Ligtenberg MJL, Martínez-Bouzas C, Merino S, Michils G, Novaković S, Patiño-García A, Ranzani GN, Schröck E, Silva I, Silveira C, Soto JL, Spier I, Steinke-Lange V, Tedaldi G, Tejada MI, Woodward ER, Tischkowitz M, Hoogerbrugge N, Oliveira C. Genotype-first approach to identify associations between CDH1 germline variants and cancer phenotypes: a multicentre study by the European Reference Network on Genetic Tumour Risk Syndromes. Lancet Oncol. 2023 Jan;24(1):91-106.
Jandu HK, Veal CD, Fachal L, Luccarini C, Aguado-Barrera ME, Altabas M, Azria D, Baten A, Bourgier C, Bultijnck R, Colciago RR, Farcy-Jacquet MP, Chang-Claude J, Choudhury A, Dunning A, Elliott RM, Green S, Gutiérrez-Enríquez S, Herskind C, Lambrecht M, Monten C, Rancati T, Reyes V, Rosenstein BS, De Ruysscher D, Carmen De Santis M, Seibold P, Sperk E, Veldwijk M, Paul Symonds R, Stobart H, Taboada-Valladares B, Vega A, Veldeman L, Webb AJ, Weltens C, West CM, Rattay T, Talbot CJ; REQUITE consortium. Genome-wide association study of treatment-related toxicity two years following radiotherapy for breast cancer. Radiother Oncol. 2023 Oct;187:109806.
Carrasco E, López-Fernández A, Codina-Sola M, Valenzuela I, Cueto-González AM, Villacampa G, Navarro V, Torres-Esquius S, Palau D, Cruellas M, Torres M, Perez-Dueñas B, Abulí A, Diez O, Sábado-Álvarez C, García-Arumí E, Tizzano EF, Moreno L, Balmaña J. Clinical and psychological implications of secondary and incidental findings in cancer susceptibility genes after exome sequencing in patients with rare disorders. J Med Genet. 2022 Nov 29:jmg-2022-108929.
Aguado-Flor E, Fuentes-Raspall MJ, Gonzalo R, Alonso C, Ramón Y Cajal T, Fisas D, Seoane A, Sánchez-Pla Á, Giralt J, Díez O, Gutiérrez-Enríquez S. Cell Senescence-Related Pathways Are Enriched in Breast Cancer Patients With Late Toxicity After Radiotherapy and Low Radiation-Induced Lymphocyte Apoptosis. Front Oncol. 2022 May 24;12:825703.
Pellegrino B, Herencia-Ropero A, Llop-Guevara A, Pedretti F, Moles-Fernández A, Viaplana C, Villacampa G, Guzmán M, Rodríguez O, Grueso J, Jiménez J, Arenas EJ, Degasperi A, Dias JML, Forment JV, O’Connor MJ, Déas O, Cairo S, Zhou Y, Musolino A, Caldas C, Nik-Zainal S, Clarke RB, Nuciforo P, Díez O, Serres-Créixams X, Peg V, Espinosa-Bravo M, Macarulla T, Oaknin A, Mateo J, Arribas J, Dienstmann R, Bellet M, Oliveira M, Saura C, Gutiérrez-Enríquez S, Balmaña J, Serra V. Preclinical In Vivo Validation of the RAD51 Test for Identification of Homologous Recombination-Deficient Tumors and Patient Stratification. Cancer Res. 2022 Apr 15;82(8):1646-1657.
Moles-Fernández A, Domènech-Vivó J, Tenés A, Balmaña J, Diez O, Gutiérrez-Enríquez S. Role of Splicing Regulatory Elements and In Silico Tools Usage in the Identification of Deep Intronic Splicing Variants in Hereditary Breast/Ovarian Cancer Genes. Cancers (Basel). 2021 Jul 3;13(13):3341.
Tutt ANJ, Garber JE, Kaufman B, Viale G, Fumagalli D, Rastogi P, Gelber RD, de Azambuja E, Fielding A, Balmaña J, Domchek SM, Gelmon KA, Hollingsworth SJ, Korde LA, Linderholm B, Bandos H, Senkus E, Suga JM, Shao Z, Pippas AW, Nowecki Z, Huzarski T, Ganz PA, Lucas PC, Baker N, Loibl S, McConnell R, Piccart M, Schmutzler R, Steger GG, Costantino JP, Arahmani A, Wolmark N, McFadden E, Karantza V, Lakhani SR, Yothers G, Campbell C, Geyer CE Jr; OlympiA Clinical Trial Steering Committee and Investigators. Adjuvant Olaparib for Patients with BRCA1- or BRCA2-Mutated Breast Cancer. N Engl J Med. 2021 Jun 24;384(25):2394-2405.
Castells-Roca L, Gutiérrez-Enríquez S, Bonache S, Bogliolo M, Carrasco E, Aza-Carmona M, Montalban G, Muñoz-Subirana N, Pujol R, Cruz C, Llop-Guevara A, Ramírez MJ, Saura C, Lasa A, Serra V, Diez O, Balmaña J, Surrallés J. Clinical consequences of BRCA2 hypomorphism. NPJ Breast Cancer. 2021 Sep 9;7(1):117.
López-Fernández A, Villacampa G, Grau E, Salinas M, Darder E, Carrasco E, Torres-Esquius S, Iglesias S, Solanes A, Gadea N, Velasco A, Urgell G, Torres M, Tuset N, Brunet J, Corbella S, Balmaña J. Patients’ and professionals’ perspective of non-in-person visits in hereditary cancer: predictors and impact of the COVID-19 pandemic. Genet Med. 2021 Aug;23(8):1450-1457.
Feliubadaló L, Moles-Fernández A, Santamariña-Pena M, Sánchez AT, López-Novo A, Porras LM, Blanco A, Capellá G, de la Hoya M, Molina IJ, Osorio A, Pineda M, Rueda D, de la Cruz X, Diez O, Ruiz-Ponte C, Gutiérrez- Enríquez S, Vega A, Lázaro C. A Collaborative Effort to Define Classification Criteria for ATM Variants in Hereditary Cancer Patients. Clin Chem. 2020 Dec 6:hvaa250. Epub ahead of print.
Stjepanovic N, Villacampa G, Nead KT, Torres-Esquius S, Melis GG, Nathanson KL, Teule A, Brunet J, Y Cajal TR, Llort G, Dienstmann R, Rue M, Domchek SM, Balmaña J. Association of premenopausal risk-reducing salpingo-oophorectomy with breast cancer risk in BRCA1/2 mutation carriers: Maximising bias-reduction. Eur J Cancer. 2020 Jun;132:53-60.
Yang X, Leslie G, Doroszuk A,…Diez O,…Balmaña J,… Tischkowitz M. Cancer Risks Associated With Germline PALB2 Pathogenic Variants: An International Study of 524 Families. J Clin Oncol. 2020 Mar 1;38(7):674-685.
Yang X, Song H, Leslie G,…Diez O, Balmaña J,… Antoniou AC. Ovarian and Breast Cancer Risks Associated With Pathogenic Variants in RAD51C and RAD51D. J Natl Cancer Inst. 2020 Dec 14;112(12):1242-1250.
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.
Padilla N, Moles-Fernández A, Riera C, Montalban G, Özkan S, Ootes L, Bonache S, Díez O, Gutiérrez-Enríquez S, de la Cruz X. BRCA1- and BRCA2-specific in silico tools for variant interpretation in the CAGI 5 ENIGMA challenge. Hum Mutat. 2019 Sep;40(9):1593-1611.
Montalban G, Bonache S, Moles-Fernández A, Gadea N, Tenés A, Torres-Esquius S, Carrasco E, Balmaña J, Diez O, Gutiérrez-Enríquez S. Incorporation of semi-quantitative analysis of splicing alterations for the clinical interpretation of variants in BRCA1 and BRCA2 genes. Hum Mutat. 2019 Dec;40(12):2296-2317. (Editor’s Choice).
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 Nov15;145 (10): 2682-2691.
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.
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. BRCA 1185delAG tumors may acquire therapy resistance through expression of RING-less BRCA1. J Clin Invest. 2016 Aug 1;126(8):2903-18.
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. The BRCA1-D11q Alternative Splice Isoform Bypasses Germline Mutations and Promotes Therapeutics Resistance to PARP Inhibition and Cisplatin. Cancer Res. 2016 May 1;76(9):2778-90.
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;33(3):244-250.
Balmaña J, Domchek SM. BRIP1 as an ovarian cancer susceptibility gene: ready for the clinic? J Natl Cancer Inst. 2015;107(11).
Kastrinos F, Ojha RP, Leenen C, Alvero C, Mercado RC, Balmaña J, Valenzuela I, Balaguer F, Green R, Lindor NM, Thibodeau SN, Newcomb P, Win AK, Jenkins M, Buchanan DD, Bertario L, Sala P, Hampel H, Syngal S, Steyerberg EW; Lynch Syndrome prediction model validation study group. Comparison of Prediction Models for Lynch Syndrome Among Individuals With Colorectal Cancer. J Natl Cancer Inst. 2016;108(2). Epub 2015 Nov 18.
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;140(2):199-203. Epub 2015 Dec 23.
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

All publications

Senescence-Related Pathways Are Enriched in Breast Cancer Patients With Late Toxicity After Radiotherapy and Low Radiation-Induced Lymphocyte Apoptosis. Aguado-Flor E, Fuentes -Raspall MJ, Gonzalo R, Alonso C, Ramón Y Cajal T, Fisas D, Seoane A, Sánchez-Pla Á, Giralt J, Díez O, Gutiérrez-Enríquez S. Front Oncol. 2022 May 24;12:825703.
Preclinical In Vivo Validation of the RAD51 Test for Identification of Homologous Recombination-Deficient Tumors and Patient Stratification. Pellegrino B, Herencia-Ropero A, Llop-Guevara A, Pedretti F, Moles-Fernández A, Viaplana C, Villacampa G, Guzmán M, Rodríguez O, Grueso J, Jiménez J, Arenas EJ, Degasperi A, Dias JML, Forment JV, O’Connor MJ, Déas O, Cairo S, Zhou Y, Musolino A, Caldas C, Nik-Zainal S, Clarke RB, Nuciforo P, Díez O, Serres-Créixams X, Peg V, Espinosa-Bravo M, Macarulla T, Oaknin A, Mateo J, Arribas J, Dienstmann R, Bellet M, Oliveira M, Saura C, Gutiérrez-Enríquez S, Balmaña J, Serra V. Cancer Res. 2022 Apr 15;82(8):1646-1657.
The correlation between pre-treatment symptoms, acute and late toxicity and patient-reported health-related quality of life in non-small cell lung cancer patients: Results of the REQUITE study. van der Weijst L, Azria D, Berkovic P, Boisselier P, Briers E, Bultijnck R,Chang-Claude J, Choudhury A, Defraene G, Demontois S, Elliott RM, Ennis D, Faivre-Finn C, Franceschini M, Giandini T, Giraldo A, Gutiérrez-Enríquez S, Herskind C, Higginson DS, Kerns SL, Johnson K, Lambrecht M, Lang P, Ramos M, Rancati T, Rimner A, Rosenstein BS, De Ruysscher D, Salem A, Sangalli C, Seibold P, Sosa Fajardo P, Sperk E, Stobart H, Summersgill H, Surmont V, Symonds P, Taboada-Valladares B, Talbot CJ, Vega A, Veldeman L, Veldwijk MR, Ward T, Webb A, West CML, Lievens Y; REQUITE consortium. Radiother Oncol. 2022 Nov;176:127-137.
Treatment time and circadian genotype interact to influence radiotherapy side-effects. A prospective European validation study using the REQUITE cohort. Webb AJ, Harper E, Rattay T, Aguado-Barrera ME, Azria D, Bourgier C, Brengues M, Briers E, Bultijnck R, Chang-Claude J, Choudhury A, Cicchetti A, De Ruysscher D, De Santis MC, Dunning AM, Elliott RM, Fachal L, Gómez-Caamaño A, Gutiérrez-Enríquez S, Johnson K, Lobato-Busto R, Kerns SL, Post G, Rancati T, Reyes V, Rosenstein BS, Seibold P, Seoane A, Sosa-Fajardo P, Sperk E, Taboada-Valladares B, Valdagni R, Vega A, Veldeman L, Ward T, West CM, Symonds RP, Talbot CJ; REQUITE Consortium. EBioMedicine. 2022Oct; 84:104269.
Development and Optimization of a Machine-Learning Prediction Model for Acute Desquamation After Breast Radiation Therapy in the Multicenter REQUITE Cohort. Aldraimli M, Osman S, Grishchuck D, Ingram S, Lyon R, Mistry A, Oliveira J, Samuel R, Shelley LEA, Soria D, Dwek MV, Aguado-Barrera ME, Azria D, Chang-Claude J, Dunning A, Giraldo A, Green S, Gutiérrez-Enríquez S, Herskind C, van Hulle H, Lambrecht M, Lozza L, Rancati T, Reyes V, Rosenstein BS, de Ruysscher D, de Santis MC, Seibold P, Sperk E, Symonds RP, Stobart H, Taboada-Valadares B, Talbot CJ, Vakaet VJL, Vega A, Veldeman L, Veldwijk MR, Webb A, Weltens C, West CM, Chaussalet TJ, Rattay T; REQUITE consortium. Adv Radiat Oncol. 2022 Jan 3;7(3):100890.
Hasanov E, Pimentel I, Cruellas M, Lewis MA, Jonasch E, Balmaña J. Current Systemic Treatments for the Hereditary Cancer Syndromes: Drug Development in Light of Genomic Defects. Am Soc Clin Oncol Educ Book. 2022 Apr;42:1-17.
Polygenic risk modeling for prediction of epithelial ovarian cancer risk. Dareng, Eileen O.; Tyrer, Jonathan P.; Barnes, Daniel R.; Jones, Michelle R.; Yang, Xin; Aben, Katja K. H.; Adank, Muriel A.; Agata, Simona; Andrulis, Irene L.; Anton-Culver, Hoda; Antonenkova, Natalia N.; Aravantinos, Gerasimos; Arun, Banu K.; Augustinsson, Annelie; Balmana, Judith;…; GEMO Study Collaborators; GC-HBOC. Study Collaborators; EMBRACE Collaborators; OPAL Study Grp; AOCS Grp; KConFab Investigators; HEBON Investigators; OCAC Consortium; CIMBA Consortium. (vol 30, pg 349, 2021).Eur J Hum Genet. 30 – 5, pp. 630 – 631. 22/03/2022. ISSN 1018-4813, ISSN 1476-5438
Quality of Colonoscopy Is Associated With Adenoma Detection and Postcolonoscopy Colorectal Cancer Prevention in Lynch Syndrome. Sanchez, Ariadna; Roos, Victorine H.; Navarro, Matilde; Pineda, Marta; Caballol, Berta; Moreno, Lorena; Carballal, Sabela; Rodriguez-Alonso, Lorena; Cajal, Teresa Ramon Y.; Llort, Gemma; Pinol, Virginia; Lopez-Fernandez, Adria; Salces, Inmaculada; Pico, Maria Dolores; Rivas, Laura; Bujanda, Luis; Garzon, Marta; Pizarro, Angeles; de Castro, Eva Martinez; Lopez-Arias, Maria Jesus; Poves, Carmen; Garau, Catalina; Rodriguez-Alcalde, Daniel; Herraiz, Maite; Alvarez-Urrutia, Cristina; Dacal, Andres; Carrillo-Palau, Marta; Cid, Lucia; Ponce, Marta; Barreiro-Alonso, Eva; Saperas, Esteban; Aguirre, Elena; Romero, Cristina; Bastiaansen, Barbara; Gonzalez-Acosta, Maribel; Morales-Romero, Blai; Ocana, Teresa; Rivero-Sanchez, Liseth; Jung, Gerhard; Bessa, Xavier; Cubiella, Joaquin; Jover, Rodrigo; Rodriguez-Moranta, Francisco; Balmana, Judith; Brunet, Joan; Castells, Antoni; Dekker, Evelien; Capella, Gabriel; Serra-Burriel, Miquel; Moreira, Leticia; Pellise, Maria; Balaguer, Francesc. Clin Gastroenterol Hepatol. 20 – 3, pp. 611. ELSEVIER SCIENCE INC, 01/03/2022. ISSN 1542-3565, ISSN 1542-7714
The Molecular Tumor Board Portal supports clinical decisions and automated reporting for precision oncology. Tamborero, D; Dienstmann, R; Rachid, MH; Boekel, J; Lopez-Fernandez, A; Jonsson, M; Razzak, A; Brana, I; De Petris, L; Yachnin, J; Baird, RD; Loriot, Y; Massard, C; Martin-Romano, P; Opdam, F; Schlenk, RF; Vernieri, C; Masucci, M; Villalobos, X; Chavarria, E; Balmana, J; Apolone, G; Caldas, C; Bergh, J; Ernberg, I; Frohling, S; Garralda, E; Karlsson, C; Tabernero, J; Voest, E; Rodon, J; Lehtio, J. Group Author: Canc Core Europe Consortium (Canc Core Europe Consortium). Nat Cancer. Volume3, Issue2, Page251-DOI10.1038/s43018-022-00332-x. Published FEB 2022. Indexed2022-03-11.
Clinical and psychological implications of secondary and incidental findings in cancer susceptibility genes after exome sequencing in patients with rare disorders. Carrasco E, López-Fernández A, Codina-Sola M, Valenzuela I, Cueto-González AM, Villacampa G, Navarro V, Torres-Esquius S, Palau D, Cruellas M, Torres M, Perez-Dueñas B, Abulí A, Diez O, Sábado-Álvarez C, García-Arumí E, Tizzano EF, Moreno L, Balmaña J. J Med Genet. 2022 Nov 29:jmg-2022-108929. doi: 10.1136/jmg-2022-108929.
Risk reduction and screening of cancer in hereditary breast-ovarian cancer syndromes: ESMO Clinical Practice Guideline. Sessa C, Balmaña J, Bober SL, Cardoso MJ, Colombo N, Curigliano G, Domchek SM, Evans DG, Fischerova D, Harbeck N, Kuhl C, Lemley B, Levy-Lahad E, Lambertini M, Ledermann JA, Loibl S, Phillips KA, Paluch-Shimon S; ESMO Guidelines Committee. Electronic address: clinicalguidelines@esmo.org. Ann Oncol. 2023 Jan;34(1):33-47. doi: 10.1016/j.annonc.2022.10.004. Epub 2022 Oct 25.
Development of a mouse model for spontaneous oral squamous cell carcinoma in Fanconi anemia. Errazquin R, Page A, Suñol A, Segrelles C, Carrasco E, Peral J, Garrido-Aranda A, Del Marro S, Ortiz J, Lorz C, Minguillon J, Surralles J, Belendez C, Alvarez M, Balmaña J, Bravo A, Ramirez A, Garcia-Escudero R. Oral Oncol. 2022 Nov;134:106184.
Genetic and functional homologous repair deficiency as biomarkers for platinum sensitivity in TNBC: A case report. Gomez-Puerto D, Llop-Guevara A, Cruellas M, Torres-Esquius S, De La Torre J, Peg V, Balmaña J, Pimentel I. Front Oncol. 2022 Sep 14;12:963728.
Identification of a Molecularly-Defined Subset of Breast and Ovarian Cancer Models that Respond to WEE1 or ATR Inhibition, Overcoming PARP Inhibitor Resistance. Serra V, Wang AT, Castroviejo-Bermejo M, Polanska UM, Palafox M, Herencia-Ropero A, Jones GN, Lai Z, Armenia J, Michopoulos F, Llop-Guevara A, Brough R, Gulati A, Pettitt SJ, Bulusu KC, Nikkilä J, Wilson Z, Hughes A, Wijnhoven PWG, Ahmed A, Bruna A, Gris-Oliver A, Guzman M, Rodríguez O, Grueso J, Arribas J, Cortés J, Saura C, Lau A, Critchlow S, Dougherty B, Caldas C, Mills GB, Barrett JC, Forment JV, Cadogan E, Lord CJ, Cruz C, Balmaña J, O’Connor MJ. Clin Cancer Res. 2022 Oct 14;28(20):4536-4550.
Risk-Adjusted Cancer Screening and Prevention (RiskAP): Complementing Screening for Early Disease Detection by a Learning Screening Based on Risk Factors. Schmutzler RK, Schmitz-Luhn B, Borisch B, Devilee P, Eccles D, Hall P, Balmaña J, Boccia S, Dabrock P, Emons G, Gaissmaier W, Gronwald J, Houwaart S, Huster S, Kast K, Katalinic A, Linn SC, Moorthie S, Pharoah P, Rhiem K, Spranger T, Stoppa-Lyonnet D, van Delden JJM, van den Bulcke M, Woopen C. Breast Care (Basel). 2022 Apr;17(2):208-223
Condorelli M, Bruzzone M, Ceppi M, Ferrari A, Grinshpun A, Hamy AS, de Azambuja E, Carrasco E, Peccatori FA, Di Meglio A, Paluch-Shimon S, Poorvu PD, Venturelli M, Rousset-Jablonski C, Senechal C, Livraghi L, Ponzone R, De Marchis L, Pogoda K, Sonnenblick A, Villarreal-Garza C, Córdoba O, Teixeira L, Clatot F, Punie K, Graffeo R, Dieci MV, Pérez-Fidalgo JA, Duhoux FP, Puglisi F, Ferreira AR, Blondeaux E, Peretz-Yablonski T, Caron O, Saule C, Ameye L, Balmaña J, Partridge AH, Azim HA, Demeestere I, Lambertini M. Safety of assisted reproductive techniques in young women harboring germline pathogenic variants in BRCA1/2 with a pregnancy after prior history of breast cancer. ESMO Open. 2021 Dec;6(6):100300.
Marmolejo DH, Wong MYZ, Bajalica-Lagercrantz S, Tischkowitz M, Balmaña J; extended ERN-GENTURIS Thematic Group 3. Overview of hereditary breast and ovarian cancer (HBOC) guidelines across Europe. Eur J Med Genet. 2021 Dec;64(12):104350.
Aldraimli M, Soria D, Grishchuck D, Ingram S, Lyon R, Mistry A, Oliveira J, Samuel R, Shelley LEA, Osman S, Dwek MV, Azria D, Chang-Claude J, Gutiérrez-Enríquez S, De Santis MC, Rosenstein BS, De Ruysscher D, Sperk E, Symonds RP, Stobart H, Vega A, Veldeman L, Webb A, Talbot CJ, West CM, Rattay T; REQUITE consortium, Chaussalet TJ. A data science approach for early-stage prediction of Patient’s susceptibility to acute side effects of advanced radiotherapy. Comput Biol Med. 2021 Aug;135:104624.
Li N, Zethoven M, McInerny S, Devereux L, Huang YK, Thio N, Cheasley D, Gutiérrez-Enríquez S, Moles-Fernández A, Diez O, Nguyen-Dumont T, Southey MC, Hopper JL, Simard J, Dumont M, Soucy P, Meindl A, Schmutzler R, Schmidt MK, Adank MA, Andrulis IL, Hahnen E, Engel C, Lesueur F, Girard E, Neuhausen SL, Ziv E, Allen J, Easton DF, Scott RJ, Gorringe KL, James PA, Campbell IG. Evaluation of the association of heterozygous germline variants in NTHL1 with breast cancer predisposition: an international multi-center study of 47,180 subjects. NPJ Breast Cancer. 2021 May 12;7(1):52.
Feliubadaló L, Moles-Fernández A, Santamariña-Pena M, Sánchez AT, López-Novo A, Porras LM, Blanco A, Capellá G, de la Hoya M, Molina IJ, Osorio A, Pineda M, Rueda D, de la Cruz X, Diez O, Ruiz-Ponte C, Gutiérrez-Enríquez S, Vega A, Lázaro C. A Collaborative Effort to Define Classification Criteria for ATM Variants in Hereditary Cancer Patients. Clin Chem.
Llop-Guevara A, Loibl S, Villacampa G, Vladimirova V, Schneeweiss A, Karn T, Zahm DM, Herencia-Ropero A, Jank P, van Mackelenbergh M, Fasching PA, Marmé F, Stickeler E, Schem C, Dienstmann R, Florian S, Nekljudova V, Balmaña J, Hahnen E, Denkert C, Serra V. Association of RAD51 with homologous recombination deficiency (HRD) and clinical outcomes in untreated triple-negative breast cancer (TNBC): analysis of the GeparSixto randomized clinical trial. Ann Oncol. 2021 Dec;32(12):1590-1596.
Castells-Roca L, Gutiérrez-Enríquez S, Bonache S, Bogliolo M, Carrasco E, Aza-Carmona M, Montalban G, Muñoz-Subirana N, Pujol R, Cruz C, Llop-Guevara A, Ramírez MJ, Saura C, Lasa A, Serra V, Diez O, Balmaña J, Surrallés J. Clinical consequences of BRCA2 hypomorphism. NPJ Breast Cancer. 2021 Sep 9;7(1):117.
Koh SJ, Ohsumi S, Takahashi M, Fukuma E, Jung KH, Ishida T, Dai MS, Chang CH, Dalvi T, Walker G, Bennett J, O’Shaughnessy J, Balmaña J. Prevalence of mutations in BRCA and homologous recombination repair genes and real-world standard of care of Asian patients with HER2-negative metastatic breast cancer starting first-line systemic cytotoxic chemotherapy: subgroup analysis of the global BREAKOUT study. Breast Cancer. 2022 Jan;29(1):92-102. Epub 2021 Aug 31.
Rofes P, González S, Navarro M, Moreno-Cabrera JM, Solanes A, Darder E, Carrasco E, Iglesias S, Salinas M, Gómez C, Velasco À, Tuset N, Varela M, Llort G, Ramon Y Cajal T, Grau È, Dueñas N, de la Ossa Merlano N, Matías-Guiu X, Rivera B, Balmaña J, Pineda M, Brunet J, Capellá G, Del Valle J, Lázaro C. Paired Somatic-Germline Testing of 15 Polyposis and Colorectal Cancer-Predisposing Genes Highlights the Role of APC Mosaicism in de Novo Familial Adenomatous Polyposis. J Mol Diagn. 2021 Nov;23(11):1452-1459.
Murillo-Sanjuán L, Balmaña J, de Pablo García-Cuenca A, Lorente Guerrero J, Uria Oficialdegui ML, Carrasco E, Diaz-de-Heredia C. Post-hematopoietic stem cell transplant squamous cell carcinoma in patients with Fanconi anemia: a dreadful enemy. Clin Transl Oncol. 2022 Feb;24(2):388-392.
Turner NC, Balmaña J, Poncet C, Goulioti T, Tryfonidis K, Honkoop AH, Zoppoli G, Razis E, Johannsson OT, Colleoni M, Tutt AN, Audeh W, Ignatiadis M, Mailliez A, Trédan O, Musolino A, Vuylsteke P, Juan-Fita MJ, Macpherson IRJ, Kaufman B, Manso L, Goldstein LJ, Ellard SL, Láng I, Jen KY, Adam V, Litière S, Erban J, Cameron DA; BRAVO Steering Committee and the BRAVO investigators. Niraparib for Advanced Breast Cancer with Germline BRCA1 and BRCA2 Mutations: the EORTC 1307-BCG/BIG5-13/TESARO PR-30-50-10-C BRAVO Study. Clin Cancer Res. 2021 Oct 15;27(20):5482-5491.
Moles-Fernández A, Domènech-Vivó J, Tenés A, Balmaña J, Diez O, Gutiérrez-Enríquez S. Role of Splicing Regulatory Elements and In Silico Tools Usage in the Identification of Deep Intronic Splicing Variants in Hereditary Breast/Ovarian Cancer Genes. Cancers (Basel). 2021 Jul 3;13(13):3341.
Montalban G, Bonache S, Bach V, Gisbert-Beamud A, Tenés A, Moles-Fernández A, López-Fernández A, Carrasco E, Balmaña J, Diez O, Gutiérrez-Enríquez S. BRCA1 and BRCA2 whole cDNA analysis in unsolved hereditary breast/ovarian cancer patients. Cancer Genet. 2021 Nov;258-259:10-17.
Lakeman IMM, van den Broek AJ, Vos JAM, Barnes DR, Adlard J, Andrulis IL, Arason A, Arnold N, Arun BK, Balmaña J, Barrowdale D, Benitez J, Borg A, Caldés T, Caligo MA, Chung WK, Claes KBM; GEMO Study Collaborators; EMBRACE Collaborators, Collée JM, Couch FJ, Daly MB, Dennis J, Dhawan M, Domchek SM, Eeles R, Engel C, Evans DG, Feliubadaló L, Foretova L, Friedman E, Frost D, Ganz PA, Garber J, Gayther SA, Gerdes AM, Godwin AK, Goldgar DE, Hahnen E, Hake CR, Hamann U, Hogervorst FBL, Hooning MJ, Hopper JL, Hulick PJ, Imyanitov EN; OCGN Investigators; HEBON Investigators; KconFab Investigators, Isaacs C, Izatt L, Jakubowska A, James PA, Janavicius R, Jensen UB, Jiao Y, John EM, Joseph V, Karlan BY, Kets CM, Konstantopoulou I, Kwong A, Legrand C, Leslie G, Lesueur F, Loud JT, Lubiński J, Manoukian S, McGuffog L, Miller A, Gomes DM, Montagna M, Mouret-Fourme E, Nathanson KL, Neuhausen SL, Nevanlinna H, Yie JNY, Olah E, Olopade OI, Park SK, Parsons MT, Peterlongo P, Piedmonte M, Radice P, Rantala J, Rennert G, Risch HA, Schmutzler RK, Sharma P, Simard J, Singer CF, Stadler Z, Stoppa-Lyonnet D, Sutter C, Tan YY, Teixeira MR, Teo SH, Teulé A, Thomassen M, Thull DL, Tischkowitz M, Toland AE, Tung N, van Rensburg EJ, Vega A, Wappenschmidt B, Devilee P, van Asperen CJ, Bernstein JL, Offit K, Easton DF, Rookus MA, Chenevix-Trench G, Antoniou AC, Robson M, Schmidt MK. The predictive ability of the 313 variant-based polygenic risk score for contralateral breast cancer risk prediction in women of European ancestry with a heterozygous BRCA1 or BRCA2 pathogenic variant. Genet Med. 2021 Sep;23(9):1726-1737.
Gelmon KA, Fasching PA, Couch FJ, Balmaña J, Delaloge S, Labidi-Galy I, Bennett J, McCutcheon S, Walker G, O’Shaughnessy J; Collaborating Investigators. Clinical effectiveness of olaparib monotherapy in germline BRCA-mutated, HER2-negative metastatic breast cancer in a real-world setting: phase IIIb LUCY interim analysis. Eur J Cancer. 2021 Jul;152:68-77.
Tutt ANJ, Garber JE, Kaufman B, Viale G, Fumagalli D, Rastogi P, Gelber RD, de Azambuja E, Fielding A, Balmaña J, Domchek SM, Gelmon KA, Hollingsworth SJ, Korde LA, Linderholm B, Bandos H, Senkus E, Suga JM, Shao Z, Pippas AW, Nowecki Z, Huzarski T, Ganz PA, Lucas PC, Baker N, Loibl S, McConnell R, Piccart M, Schmutzler R, Steger GG, Costantino JP, Arahmani A, Wolmark N, McFadden E, Karantza V, Lakhani SR, Yothers G, Campbell C, Geyer CE Jr; OlympiA Clinical Trial Steering Committee and Investigators. Adjuvant Olaparib for Patients with BRCA1– or BRCA2-Mutated Breast Cancer. N Engl J Med. 2021 Jun 24;384(25):2394-2405.
Ramírez MJ, Pujol R, Trujillo-Quintero JP, Minguillón J, Bogliolo M, Río P, Navarro S, Casado JA, Badell I, Carrasco E, Balmaña J, Català A, Sevilla J, Beléndez C, Argilés B, López M, Díaz de Heredia C, Rao G, Nicoletti E, Schwartz JD, Bueren JA, Surrallés J. Natural gene therapy by reverse mosaicism leads to improved hematology in Fanconi anemia patients. Am J Hematol. 2021 Aug 1;96(8):989-999.
Tischkowitz M, Balmaña J, Foulkes WD, James P, Ngeow J, Schmutzler R, Voian N, Wick MJ, Stewart DR, Pal T; ACMG Professional Practice and Guidelines Committee. Management of individuals with germline variants in PALB2: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2021 Aug;23(8):1416-1423.
López-Fernández A, Villacampa G, Grau E, Salinas M, Darder E, Carrasco E, Torres-Esquius S, Iglesias S, Solanes A, Gadea N, Velasco A, Urgell G, Torres M, Tuset N, Brunet J, Corbella S, Balmaña J. Patients’ and professionals’ perspective of non-in-person visits in hereditary cancer: predictors and impact of the COVID-19 pandemic. Genet Med. 2021 Aug;23(8):1450-1457.
Lambertini M, Ceppi M, Hamy AS, Caron O, Poorvu PD, Carrasco E, Grinshpun A, Punie K, Rousset-Jablonski C, Ferrari A, Paluch-Shimon S, Toss A, Senechal C, Puglisi F, Pogoda K, Pérez-Fidalgo JA, De Marchis L, Ponzone R, Livraghi L, Estevez-Diz MDP, Villarreal-Garza C, Dieci MV, Clatot F, Duhoux FP, Graffeo R, Teixeira L, Córdoba O, Sonnenblick A, Ferreira AR, Partridge AH, Di Meglio A, Saule C, Peccatori FA, Bruzzone M, t’Kint de Roodenbeke MD, Ameye L, Balmaña J, Del Mastro L, Azim HA Jr. Clinical behavior and outcomes of breast cancer in young women with germline BRCA pathogenic variants. NPJ Breast Cancer. 2021 Feb 12;7(1):16.
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. BARD1 Pathogenic Variants are Associated with Triple-Negative Breast Cancer in a Spanish Hereditary Breast and Ovarian Cancer Cohort. Genes (Basel). 2021 Jan 23;12(2):150.
Eikesdal HP, Yndestad S, Elzawahry A, Llop-Guevara A, Gilje B, Blix ES, Espelid H, Lundgren S, Geisler J, Vagstad G, Venizelos A, Minsaas L, Leirvaag B, Gudlaugsson EG, Vintermyr OK, Aase HS, Aas T, Balmaña J, Serra V, Janssen EAM, Knappskog S, Lønning PE. Olaparib monotherapy as primary treatment in unselected triple negative breast cancer. Ann Oncol. 2021 Feb;32(2):240-249.
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.
Analysis of Lynch Syndrome Mismatch Repair Genes in Women with Endometrial Cancer. Rubio I, Ibáñez-Feijoo E, Andrés L, Aguirre E, Balmaña J, Blay P, Llort G, González-Santiago S, Maortua H, Tejada MI, Martinez-Bouzas C. Oncology. 2016;91(3):171-6.
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.
Selecting Patients with Ovarian Cancer for Germline BRCA Mutation Testing: Findings from Guidelines and a Systematic Literature Review. Eccles DM, Balmaña J, Clune J, Ehlken B, Gohlke A, Hirst C, Potter D, Schroeder C, Tyczynski JE, Gomez Garcia EB. Adv Ther. 2016 Feb;33(2):129-50.
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
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
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
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
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
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
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