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PRINCIPAL INVESTIGATORS

Judith Balmaña
JUDITH BALMAÑA

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JUDITH BALMAÑA

Current positions

  • Head of the High Risk and Cancer Prevention Group
  • Specialist in Medical Oncology at the Vall d’Hebron University Hospital
  • Certificate of the ECFMG (Educational Commission for Foreign Medical Graduates), 1999
  • Member of the Spanish Society of Medical Oncology (SEOM), ESMO and ASCO
  • Member of InSiGHT (International Society for Gastrointestinal Hereditary Tumors)
  • Prior member of the board of the SEOM Hereditary Cancer Section
  • Coordinator of the family cancer module of the 1st Master’s Degree in Genetic Counselling at Pompeu Fabra University (UPF). Member of ESMO

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 fellowhip 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
  • Prize to Professional Excelence by COMB 2015 (Col•legi Oficial de Metges de Barcelona) 

Most relevant scientific publications

  • 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

  • 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 cancer Breast 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