2023

• Mortality by age, gene and gender in carriers of pathogenic mismatch repair gene variants receiving surveillance for early cancer diagnosis and treatment: a report from the prospective Lynch syndrome database.

  EClinicalMedicine

  Dominguez-Valentin M.; Haupt S.; Seppälä, T; Sampson, R; Sunde L.; Bernstein I.; Jenkins, A; Engel C.; Aretz S.; Nielsen M.; Capella G.; Balaguer F.; Evans D.; Burn J.; Holinski-Feder E.; Bertario L.; Bonanni B.; Lindblom A.; Levi Z.; Macrae F.; Winship I.; Plazzer J.; Sijmons R.; Laghi L.; Valle A.; Heinimann K.; Dębniak T.; Fruscio R.; Lopez-Koestner F.; Alvarez-Valenzuela K.; Katz, H; Laish I.; Vainer E.; Vaccaro C.; Carraro D.; Monahan K.; Half E.; Stakelum A.; Winter D.; Kennelly R.; Gluck N.; Sheth H.; Abu-Freha N.; Greenblatt M.; Rossi B.; Bohorquez M.; Cavestro G.; Lino-Silva, S; Horisberger K.; Tibiletti M.; Nascimento I.; Thomas H.; Rossi N.; Silva L.; Zaránd A.; Ruiz-Bañobre J.; Heuveline V.; Mecklin J.; Pylvänäinen K.; Renkonen-Sinisalo L.; Lepistö A.; Peltomäki P.; Therkildsen C.; Madsen M.; Burgdorf S.; Hopper, L; Win A.; Haile, W; Lindor N.; Gallinger S.; Marchand L.; Newcomb, A; Figueiredo J.; Buchanan, D; Thibodeau, N; Doeberitz M.; Loeffler M.; Rahner N.; Schröck E.; Steinke-Lange V.; Schmiegel W.; Vangala D.; Perne C.; Hüneburg R.; Redler S.; Büttner R.; Weitz J.; Pineda M.; Duenas N.; Vidal J.; Moreira L.; Sánchez A.; Hovig E.; Nakken S.; Green K.; Lalloo F.; Hill J.; Crosbie E.; Mints M.; Goldberg Y.; Tjandra D.; Broeke, W; Kariv R.; Rosner G.; Advani, H; Thomas L.; Shah P.; Shah M.; Neffa F.; Esperon P.; Pavicic W.; Torrezan G.; Bassaneze T.; Martin C.; Moslein G.; Moller, Pål

• Constitutional MLH1 Methylation Is a Major Contributor to Mismatch Repair-Deficient, MLH1-Methylated Colorectal Cancer in Patients Aged 55 Years and Younger.

  Journal of the National Comprehensive Cancer Network : JNCCN

  Hitchins, P; Dámaso E.; Alvarez R.; Zhou L.; Hu Y.; Diniz, A; Pineda M.; Capella G.; Pearlman R.; Hampel H.

• Cost-effectiveness analysis of molecular testing in minimally invasive samples to detect endometrial cancer in women with postmenopausal bleeding.

  British journal of cancer

  Peremiquel-Trillas P.; Gómez D.; Martínez J.; Fernández-González S.; Frias-Gomez J.; Paytubi S.; Pelegrina B.; Pineda M.; Brunet J.; Ponce J.; Matias-Guiu X.; Bosch X.; Sanjosé S.; Bruni L.; Alemany L.; Costas L.; Díaz M.

• Highly Sensitive Microsatellite Instability and Immunohistochemistry Assessment in Endometrial Aspirates as a Tool for Cancer Risk Individualization in Lynch Syndrome.

  Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc

  Canet-Hermida J.; Marín F.; Dorca E.; Dueñas N.; Costas L.; Salinas M.; Velasco À.; Peremiquel-Trillas P.; Paytubi S.; Ponce J.; Fernández S.; Martínez J.; Cárdenas L.; Taltavull A.; Alemany L.; Meléndez C.; Oliveras G.; Vidal A.; Capellá G.; López-Bonet E.; Brunet J.; Matias-Guiu X.; Pineda M.

• Ability of a polygenic risk score to refine colorectal cancer risk in Lynch syndrome

  Journal of Medical Genetics

  Dueñas N.; Klinkhammer H.; Bonifaci N.; Spier I.; Mayr A.; Hassanin E.; Diez-Villanueva A.; Moreno V.; Pineda M.; Maj C.; Capellà G.; Aretz S.; Brunet J.

• MLH1-methylated endometrial cancer under 60 years of age as the “sentinel” cancer in female carriers of high-risk constitutional MLH1 epimutation

  Gynecologic Oncology

  Hitchins, P; Alvarez R.; Zhou L.; Aguirre F.; Dámaso E.; Pineda M.; Capella G.; Wong, J L; Yuan X.; Ryan, R; Sathe, S; Baxter, D; Cannon T.; Biswas R.; DeMarco T.; Grzelak D.; Hampel H.; Pearlman R.

• Clinically relevant combined effect of polygenic background, rare pathogenic germline variants, and family history on colorectal cancer incidence

  BMC Medical Genomics

  Hassanin E.; Spier I.; Bobbili, R; Aldisi R.; Klinkhammer H.; David F.; Dueñas N.; Hüneburg R.; Perne C.; Brunet J.; Capella G.; Nöthen, M; Forstner, J; Mayr A.; Krawitz P.; May P.; Aretz S.; Maj C.

• Lessons learnt from the implementation of a colorectal cancer screening programme for lynch syndrome in a tertiary public hospital

  Cancer Epidemiology

  Dueñas N.; Navarro M.; Sanjuán X.; Ruiz N.; Iglesias S.; Matias-Guiu X.; Guardiola J.; Kreisler E.; Biondo S.; González S.; Legido R.; Blanco A.; Navarro S.; Asiain L.; Santos C.; Capellá G.; Pineda M.; Brunet J.

• SEOM clinical guideline on heritable TP53-related cancer syndrome (2022)

  Clinical and Translational Oncology

  Sánchez-Heras A.; Cajal T.; Pineda M.; Aguirre E.; Graña B.; Chirivella I.; Balmaña J.; Brunet J.

• Use of multi-gene panels in patients at high risk of hereditary digestive cancer: position statement of AEG, SEOM, AEGH and IMPaCT-GENÓMICA consortium

  Gastroenterologia y Hepatologia

  Carballal S.; Balaguer F.; Bujanda L.; Capellá G.; Santiago S.; Jover R.; Moreira L.; Pineda M.; Ruiz-Ponte C.; Heras A.; Blanch R.; Soto J.; Tocino R.; Cubiella J.

• vaRHC: an R package for semi-automation of variant classification in hereditary cancer genes according to ACMG/AMP and gene-specific ClinGen guidelines.

  Bioinformatics (Oxford, England)

  Munté E.; Feliubadaló L.; Pineda M.; Tornero E.; Gonzalez M.; Moreno-Cabrera J.; Roca C.; Rubio J.; Arnaldo L.; Capellá G.; Mosquera J.; Lázaro C.

• Position statement of the International Society for Gastrointestinal Hereditary Tumours (InSiGHT) on APC I1307K and cancer risk

  Journal of Medical Genetics

  Valle L.; Katz, H; Latchford A.; Mur P.; Moreno V.; Frayling, M; Heald B.; Capellá G.

2022

• Colorectal cancer incidences in Lynch syndrome: a comparison of results from the prospective lynch syndrome database and the international mismatch repair consortium

  Hereditary Cancer in Clinical Practice

  Møller, Pål; Seppälä T.; Dowty, G; Haupt S.; Dominguez-Valentin M.; Sunde L.; Bernstein I.; Engel C.; Aretz S.; Nielsen M.; Capella G.; Evans D.; Burn J.; Holinski-Feder E.; Bertario L.; Bonanni B.; Lindblom A.; Levi Z.; Macrae F.; Winship I.; Plazzer J.; Sijmons R.; Laghi L.; Valle A.; Heinimann K.; Half E.; Lopez-Koestner F.; Alvarez-Valenzuela K.; Scott, J; Katz L.; Laish I.; Vainer E.; Vaccaro C.; Carraro D.; Gluck N.; Abu-Freha N.; Stakelum A.; Kennelly R.; Winter D.; Rossi B.; Greenblatt M.; Bohorquez M.; Sheth H.; Tibiletti M.; Lino-Silva, S; Horisberger K.; Portenkirchner C.; Nascimento I.; Rossi N.; Silva L.; Thomas H.; Zaránd A.; Mecklin J.; Pylvänäinen K.; Renkonen-Sinisalo L.; Lepisto A.; Peltomäki P.; Therkildsen C.; Lindberg L.; Thorlacius-Ussing O.; Doeberitz M.; Loeffler M.; Rahner N.; Steinke-Lange V.; Schmiegel W.; Vangala D.; Perne C.; Hüneburg R.; Vargas A.; Latchford A.; Gerdes A.; Backman A.; Guillén-Ponce C.; Snyder C.; Lautrup, K; Amor D.; Palmero E.; Stoffel E.; Duijkers F.; Hall, J; Hampel H.; Williams H.; Okkels H.; Lubiński J.; Reece J.; Ngeow J.; Guillem, G; Arnold J.; Wadt K.; Monahan K.; Senter L.; Rasmussen, J; Hest, P; Ricciardiello L.; Kohonen-Corish, R J; Ligtenberg, J L; Southey M.; Aronson M.; Zahary, N; Samadder, N; Poplawski N.; Hoogerbrugge N.; Morrison, J; James P.; Lee G.; Chen-Shtoyerman R.; Ankathil R.; Pai R.; Ward R.; Parry S.; Dębniak T.; John T.; Hansen T.; Caldés T.; Yamaguchi T.; Barca-Tierno V.; Garre P.; Cavestro G.; Weitz J.; Redler S.; Büttner R.; Heuveline V.; Hopper, L; Win A.; Lindor N.; Gallinger S.; Marchand L.; Newcomb, A; Figueiredo J.; Buchanan, D; Thibodeau, N; Broeke, W; Hovig E.; Nakken S.; Pineda M.; Dueñas N.; Brunet J.; Green K.; Lalloo F.; Newton K.; Crosbie, J; Mints M.; Tjandra D.; Neffa F.; Esperon P.; Kariv R.; Rosner G.; Pavicic W.; Kalfayan P.; Torrezan G.; Bassaneze T.; Martin C.; Moslein G.; Ahadova A.; Kloor M.; Sampson, R; Jenkins, A

• A Simple Cervicovaginal Epigenetic Test for Screening and Rapid Triage of Women with Suspected Endometrial Cancer: Validation in Several Cohort and Case/Control Sets

  Journal of Clinical Oncology

  Herzog C.; Marín F.; Jones A.; Evans I.; Reisel D.; Redl E.; Schreiberhuber L.; Paytubi S.; Pelegrina B.; Carmona Á.; Peremiquel-Trillas P.; Frias-Gomez J.; Pineda M.; Brunet J.; Ponce J.; Matias-Guiu X.; Sanjosé S.; Alemany L.; Olaitan A.; Wong M.; Jurkovic D.; Crosbie, J; Rosenthal, N; Bjørge L.; Zikan M.; Dostalek L.; Cibula D.; Sundström K.; Dillner J.; Costas L.; Widschwendter M.

• An Integrated Approach for the Early Detection of Endometrial and Ovarian Cancers (Screenwide Study): Rationale, Study Design and Pilot Study.

  Journal of personalized medicine

  Peremiquel-Trillas P.; Paytubi S.; Pelegrina B.; Frias-Gomez J.; Carmona Á.; Martínez J.; Francisco J.; Benavente Y.; Barahona M.; Briansó F.; Canet-Hermida J.; Caño V.; Vidal A.; Zanca A.; Baixeras N.; Rodríguez A.; Fernández-Gonzalez S.; Dueñas N.; Càrdenas L.; Aytés Á.; Bianchi I.; Pavón M.; Reventós J.; Capellà G.; Gómez D.; Diaz M.; Ponce J.; Brunet J.; Matias-Guiu X.; Bosch F.; Sanjosé S.; Alemany L.; Pineda M.; Marin F.; Costas L.

• Variants of uncertain significance (VUS) in cancer predisposing genes: What are we learning from multigene panels?

  European Journal of Medical Genetics

  Lucci-Cordisco E.; Amenta S.; Panfili A.; Valle J.; Capellá G.; Pineda M.; Genuardi M.

• Phase I, multicenter, open-label study of intravenous VCN-01 oncolytic adenovirus with or without nab-paclitaxel plus gemcitabine in patients with advanced solid tumors

  Journal for immunotherapy of cancer

  Garcia-Carbonero R.; Bazan-Peregrino M.; Gil-Martín M.; Álvarez R.; Macarulla T.; Riesco-Martinez, C; Verdaguer H.; Guillén-Ponce C.; Farrera-Sal M.; Moreno R.; Mato-Berciano A.; Maliandi M.; Torres-Manjon S.; Costa M.; Pozo N.; Villarreal J.; Real, X; Vidal N.; Capella G.; Alemany R.; Blasi E.; Blasco C.; Cascalló M.; Salazar R.

• Splicing analyses for variants in MMR genes: best practice recommendations from the European Mismatch Repair Working Group

  European Journal of Human Genetics

  Morak M.; Pineda M.; Martins A.; Gaildrat P.; Tubeuf H.; Drouet A.; Gómez C.; Dámaso E.; Schaefer K.; Steinke-Lange V.; Koehler U.; Laner A.; Hauchard J.; Chauris K.; Holinski-Feder E.; Capellá G.

• Quality of Colonoscopy Is Associated With Adenoma Detection and Postcolonoscopy Colorectal Cancer Prevention in Lynch Syndrome

  Clinical Gastroenterology and Hepatology

  Sánchez A.; Roos, H; Navarro M.; Pineda M.; Caballol B.; Moreno L.; Carballal S.; Rodríguez-Alonso L.; Cajal T.; Llort G.; Piñol V.; López-Fernández A.; Salces I.; Picó M.; Rivas L.; Bujanda L.; Garzon M.; Pizarro A.; Castro E.; López-Arias M.; Poves C.; Garau C.; Rodriguez-Alcalde D.; Herraiz M.; Alvarez-Urrutia C.; Dacal A.; Carrillo-Palau M.; Cid L.; Ponce M.; Barreiro-Alonso E.; Saperas E.; Aguirre E.; Romero C.; Bastiaansen B.; Gonzalez-Acosta M.; Morales-Romero B.; Ocaña T.; Rivero-Sánchez L.; Jung G.; Bessa X.; Cubiella J.; Jover R.; Rodríguez-Moranta F.; Balmaña J.; Brunet J.; Castells A.; Dekker E.; Capella G.; Serra-Burriel M.; Moreira L.; Pellise M.; Balaguer F.

2021

• Risk-reducing hysterectomy and bilateral salpingo-oophorectomy in female heterozygotes of pathogenic mismatch repair variants: a Prospective Lynch Syndrome Database report

  Genetics in Medicine

  Dominguez-Valentin M.; Crosbie, J; Engel C.; Aretz S.; Macrae F.; Winship I.; Capella G.; Thomas H.; Nakken S.; Hovig E.; Nielsen M.; Sijmons, H; Bertario L.; Bonanni B.; Tibiletti M.; Cavestro G.; Mints M.; Gluck N.; Katz L.; Heinimann K.; Vaccaro, A; Green K.; Lalloo F.; Hill J.; Schmiegel W.; Vangala D.; Perne C.; Strauß H.; Tecklenburg J.; Holinski-Feder E.; Steinke-Lange V.; Mecklin J.; Plazzer J.; Pineda M.; Navarro M.; Vidal J.; Kariv R.; Rosner G.; Piñero T.; Gonzalez M.; Kalfayan P.; Ryan N.; Broeke, W; Jenkins, A; Sunde L.; Bernstein I.; Burn J.; Greenblatt M.; Cappel, H; Valle A.; Lopez-Koestner F.; Alvarez K.; Büttner R.; Görgens H.; Morak M.; Holzapfel S.; Hüneburg R.; Doeberitz M.; Loeffler M.; Rahner N.; Weitz J.; Pylvänäinen K.; Renkonen-Sinisalo L.; Lepistö A.; Auranen A.; Hopper, L; Win A.; Haile, W; Lindor, M; Gallinger S.; Marchand L.; Newcomb, A; Figueiredo, C; Thibodeau, N; Therkildsen C.; Okkels H.; Ketabi Z.; Denton, G; Rødland E.; Vasen H.; Neffa F.; Esperon P.; Tjandra D.; Möslein G.; Sampson, R; Evans, D; Seppälä, T; Møller, Pål

• VCN-01 disrupts pancreatic cancer stroma and exerts antitumor effects

  Journal for ImmunoTherapy of Cancer

  Bazan-Peregrino M.; Garcia-Carbonero R.; Laquente B.; Álvarez R.; Mato-Berciano A.; Gimenez-Alejandre M.; Morgado S.; Rodríguez-García A.; Maliandi, V; Riesco, M; Moreno R.; Ginestà, M; Perez-Carreras M.; Gornals, B; Prados S.; Perea S.; Capella G.; Alemany R.; Salazar R.; Blasi E.; Blasco C.; Cascallo M.; Hidalgo M.

• Uptake of hysterectomy and bilateral salpingo-oophorectomy in carriers of pathogenic mismatch repair variants: a Prospective Lynch Syndrome Database report

  European Journal of Cancer

  Seppälä, T; Dominguez-Valentin M.; Crosbie, J; Engel C.; Aretz S.; Macrae F.; Winship I.; Capella G.; Thomas H.; Hovig E.; Nielsen M.; Sijmons, H; Bertario L.; Bonanni B.; Tibiletti, G; Cavestro, M; Mints M.; Gluck N.; Katz L.; Heinimann K.; Vaccaro, A; Green K.; Lalloo F.; Hill J.; Schmiegel W.; Vangala D.; Perne C.; Strauß H.; Tecklenburg J.; Holinski-Feder E.; Steinke-Lange V.; Mecklin J.; Plazzer J.; Pineda M.; Navarro M.; Vida, B; Kariv R.; Rosner G.; Piñero, A; Pavicic W.; Kalfayan P.; Broeke, W; Jenkins, A; Sunde L.; Bernstein I.; Burn J.; Greenblatt M.; Cappel, H; Valle A.; Lopez-Koestner F.; Alvarez K.; Büttner R.; Görgens H.; Morak M.; Holzapfel S.; Hüneburg R.; Doeberitz M.; Loeffler M.; Redler S.; Weitz J.; Pylvänäinen K.; Renkonen-Sinisalo L.; Lepistö A.; Hopper, L; Win, K; Lindor, M; Gallinger S.; Marchand L.; Newcomb, A; Figueiredo, C; Thibodeau, N; Therkildsen C.; Wadt, A W; Mourits, J E; Ketabi Z.; Denton, G; Rødland, A; Vasen H.; Neffa F.; Esperon P.; Tjandra D.; Möslein G.; Rokkones E.; Sampson, R; Evans, D G; Møller, Pål

• No Difference in Penetrance between Truncating and Missense/Aberrant Splicing Pathogenic Variants in MLH1 and MSH2: A Prospective Lynch Syndrome Database Study.

  Journal of clinical medicine

  Dominguez-Valentin M.; Plazzer J.; Sampson, R; Engel C.; Aretz S.; Jenkins, A; Sunde L.; Bernstein I.; Capella G.; Balaguer F.; Macrae F.; Winship, M; Thomas H.; Evans D.; Burn J.; Greenblatt M.; Cappel, H; Sijmons, H; Nielsen M.; Bertario L.; Bonanni B.; Tibiletti M.; Cavestro G.; Lindblom A.; Valle A.; Lopez-Kostner F.; Alvarez K.; Gluck N.; Katz L.; Heinimann K.; Vaccaro, A; Nakken S.; Hovig E.; Green K.; Lalloo F.; Hill J.; Vasen, F A; Perne C.; Büttner R.; Görgens H.; Holinski-Feder E.; Morak M.; Holzapfel S.; Hüneburg R.; Doeberitz M.; Loeffler M.; Rahner N.; Weitz J.; Steinke-Lange V.; Schmiegel W.; Vangala D.; Crosbie, J; Pineda M.; Navarro M.; Brunet J.; Moreira L.; Sánchez A.; Serra-Burriel M.; Mints M.; Kariv R.; Rosner G.; Piñero T.; Pavicic W.; Kalfayan P.; Broeke, W; Mecklin J.; Pylvänäinen K.; Renkonen-Sinisalo L.; Lepistö A.; Peltomäki P.; Hopper, L; Win A.; Buchanan, D; Lindor, M; Gallinger S.; Marchand L.; Newcomb, A; Figueiredo, C; Thibodeau, N; Therkildsen C.; Hansen, V O; Lindberg L.; Rødland E.; Neffa F.; Esperon P.; Tjandra D.; Möslein G.; Seppälä, T; Møller, Pål

• Paired Somatic-Germline Testing of 15 Polyposis and Colorectal Cancer–Predisposing Genes Highlights the Role of APC Mosaicism in de Novo Familial Adenomatous Polyposis

  Journal of Molecular Diagnostics

  Rofes P.; González S.; Navarro M.; Moreno-Cabrera J.; Solanes A.; Darder E.; Carrasco E.; Iglesias S.; Salinas M.; Gómez C.; Velasco À.; Tuset N.; Varela M.; Llort G.; Cajal T.; Grau È.; Dueñas N.; Merlano N.; Matías-Guiu X.; Rivera B.; Balmaña J.; Pineda M.; Brunet J.; Capellá G.; Valle J.; Lázaro C.

• KRAS phosphorylation regulates cell polarization and tumorigenic properties in colorectal cancer

  Oncogene

  Cabot D.; Brun S.; Paco N.; Ginesta, M; Gendrau-Sanclemente N.; Abuasaker B.; Ruiz-Fariña T.; Barceló C.; Cuatrecasas M.; Bosch M.; Rentero C.; Pons G.; Estanyol, M; Capellà G.; Jaumot M.; Agell N.

• Clonal relationship and directionality of progression of synchronous endometrial and ovarian carcinomas in patients with DNA mismatch repair-deficiency associated syndromes

  Modern Pathology

  Moukarzel, A; Paula A.; Ferrando L.; Hoang T.; Sebastiao A.; Pareja F.; Park, J; Jungbluth, A; Capella G.; Pineda M.; Levin, D; Abu-Rustum, R; Ellenson, H; Bel A.; Reis-Filho, S; Matias-Guiu X.; Cadoo K.; Stadler, K; Weigelt B.

• Duodenal Adenomas and Cancer in MUTYH-associated Polyposis: An International Cohort Study

  Gastroenterology

  Thomas, E; Hurley, J; Sanchez A.; Aznárez, M; Backman A.; Bjork J.; Capella G.; Clark, K; Colas C.; Dekker E.; Dolwani S.; Ghorbanoghli Z.; Gonn M.; Romero, S; Hes, J; Jundi H.; Kelland S.; Latchford, R; Brito H.; Lynch, M; Meuser E.; Mork, E; Mort M.; Garcia, M; Nielsen M.; Parc Y.; Ricci, T; Saurin J.; Tuin K.; Vasen H.; Vilar E.; Vinet O.; Vitellaro M.; Walton S.; West, D; Sampson, R

• Characteristics of Adrenocortical Carcinoma Associated with Lynch Syndrome

  Journal of Clinical Endocrinology and Metabolism

  Domènech M.; Grau E.; Solanes A.; Izquierdo A.; Valle J.; Carrato C.; Pineda M.; Dueñas N.; Pujol M.; Lázaro C.; Capellà G.; Brunet J.; Navarro M.

• The challenge of diagnosing constitutional mismatch repair deficiency syndrome in brain malignancies from young individuals

  International Journal of Molecular Sciences

  Carrato C.; Sanz C.; Muñoz-Mármol A.; Blanco I.; Pineda M.; Valle J.; Dámaso E.; Esteller M.; Musulen E.

• Report of the fifth meeting of the European Consortium 'Care for CMMRD' (C4CMMRD), Leiden, The Netherlands, July 6th 2019

  Familial Cancer

  Suerink, M; Wimmer, K; Brugieres, L; Colas, C; Gallon, R; Ripperger, T; Benusiglio, P R; Bleiker, E M A; Ghorbanoghli, Z; Goldberg, Y; Hardwick, J C H; Kloor, M; Mentec, M; Muleris, M; Pineda, M; Ruiz-Ponte, C; Vasen, H F A

2020

• Assessing Effectiveness of Colonic and Gynecological Risk Reducing Surgery in Lynch Syndrome Individuals.

  Cancers

  Dueñas N.; Navarro M.; Teulé À.; Solanes A.; Salinas M.; Iglesias S.; Munté E.; Ponce J.; Guardiola J.; Kreisler E.; Carballas E.; Cuadrado M.; Matias-Guiu X.; Ossa N.; Lop J.; Lázaro C.; Capellá G.; Pineda M.; Brunet J.

• Complete Loss of EPCAM Immunoexpression Identifies EPCAM Deletion Carriers in MSH2-Negative Colorectal Neoplasia.

  Cancers

  Cuatrecasas M.; Gorostiaga I.; Riera C.; Saperas E.; Llort G.; Costa I.; Matias-Guiu X.; Carrato C.; Navarro M.; Pineda M.; Dueñas N.; Brunet J.; Marco V.; Trias I.; Busteros J.; Mateu G.; Balaguer F.; Fernández-Figueras M.; Esteller M.; Musulén E.

• Comprehensive analysis and ACMG-based classification of CHEK2 variants in hereditary cancer patients

  Human Mutation

  Vargas-Parra G.; Valle J.; Rofes P.; Gausachs M.; Stradella A.; Moreno-Cabrera, M; Velasco A.; Tornero E.; Menéndez M.; Muñoz X.; Iglesias S.; López-Doriga A.; Azuara D.; Campos O.; Cuesta R.; Darder E.; Cid R.; González S.; Teulé A.; Navarro M.; Brunet J.; Capellá G.; Pineda M.; Feliubadaló L.; Lázaro C.

• Comprehensive Constitutional Genetic and Epigenetic Characterization of Lynch-Like Individuals.

  Cancers

  Dámaso E.; González-Acosta M.; Vargas-Parra G.; Navarro M.; Balmaña J.; Cajal, Y; Tuset N.; Thompson, A; Marín F.; Fernández A.; Gómez C.; Velasco À.; Solanes A.; Iglesias S.; Urgel G.; López C.; Valle J.; Campos O.; Santacana M.; Matias-Guiu X.; Lázaro C.; Valle L.; Brunet J.; Pineda M.; Capellá G.

• Risk-Reducing Gynecological Surgery in Lynch Syndrome: Results of an International Survey from the Prospective Lynch Syndrome Database.

  Journal of clinical medicine

  Dominguez-Valentin M.; Seppälä, T; Engel C.; Aretz S.; Macrae F.; Winship I.; Capella G.; Thomas H.; Hovig E.; Nielsen M.; Sijmons, H; Bertario L.; Bonanni B.; Tibiletti M.; Cavestro G.; Mints M.; Gluck N.; Katz L.; Heinimann K.; Vaccaro, A; Green K.; Lalloo F.; Hill J.; Schmiegel W.; Vangala D.; Perne C.; Strauß H.; Tecklenburg J.; Holinski-Feder E.; Steinke-Lange V.; Mecklin J.; Plazzer J.; Pineda M.; Navarro M.; Vidal J.; Kariv R.; Rosner G.; Piñero T.; Gonzalez M.; Kalfayan P.; Sampson, R; Ryan, A J; Evans, D; Møller, Pål; Crosbie, J

• High-sensitivity microsatellite instability assessment for the detection of mismatch repair defects in normal tissue of biallelic germline mismatch repair mutation carriers

  Journal of Medical Genetics

  González-Acosta M.; Marín F.; Puliafito B.; Bonifaci N.; Fernández A.; Navarro M.; Salvador H.; Balaguer F.; Iglesias S.; Velasco A.; Garces E.; Moreno V.; Gonzalez-Granado L.; Guerra-García P.; Ayala R.; Florkin B.; Kratz C.; Ripperger T.; Rosenbaum T.; Januszkiewicz-Lewandowska D.; Azizi, A; Ragab I.; Nathrath M.; Pander H.; Lobitz S.; Suerink M.; Dahan K.; Imschweiler T.; Demirsoy U.; Brunet J.; Lázaro C.; Rueda D.; Wimmer K.; Capellá G.; Pineda M.

• Dominantly Inherited Hereditary Nonpolyposis Colorectal Cancer Not Caused by MMR Genes.

  Journal of clinical medicine

  Terradas M.; Capellá G.; Valle L.

• Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database

  Genetics in Medicine

  Dominguez-Valentin M.; Sampson, R; Seppälä, T; Broeke, W; Plazzer J.; Nakken S.; Engel C.; Aretz S.; Jenkins, A; Sunde L.; Bernstein I.; Capella G.; Balaguer F.; Thomas H.; Evans, D; Burn J.; Greenblatt M.; Hovig E.; Cappel, H; Sijmons, H; Bertario L.; Tibiletti M.; Cavestro G.; Lindblom A.; Valle A.; Lopez-Köstner F.; Gluck N.; Katz, H; Heinimann K.; Vaccaro, A; Büttner R.; Görgens H.; Holinski-Feder E.; Morak M.; Holzapfel S.; Hüneburg R.; Doeberitz M.; Loeffler M.; Rahner N.; Schackert, K; Steinke-Lange V.; Schmiegel W.; Vangala D.; Pylvänäinen K.; Renkonen-Sinisalo L.; Hopper, L; Win A.; Haile, W; Lindor, M; Gallinger S.; Marchand L.; Newcomb, A; Figueiredo, C; Thibodeau, N; Wadt K.; Therkildsen C.; Okkels H.; Ketabi Z.; Moreira L.; Sánchez A.; Serra-Burriel M.; Pineda M.; Navarro M.; Blanco I.; Green K.; Lalloo F.; Crosbie, J; Hill J.; Denton, G; Frayling, M; Rødland E.; Vasen H.; Mints M.; Neffa F.; Esperon P.; Alvarez K.; Kariv R.; Rosner G.; Pinero T.; Gonzalez M.; Kalfayan P.; Tjandra D.; Winship, M; Macrae F.; Möslein G.; Mecklin J.; Nielsen M.; Møller, Pål

• Validation of an in Vitro Mismatch Repair Assay Used in the Functional Characterization of Mismatch Repair Variants

  Journal of Molecular Diagnostics

  González-Acosta M.; Hinrichsen I.; Fernández A.; Lázaro C.; Pineda M.; Plotz G.; Capellá G.

2019

• Survival by colon cancer stage and screening interval in Lynch syndrome: a prospective Lynch syndrome database report.

  Hereditary cancer in clinical practice

  Dominguez-Valentin M.; Seppälä, T; Sampson, R; Macrae F.; Winship I.; Evans, D; Scott, J; Burn J.; Möslein G.; Bernstein I.; Pylvänäinen K.; Renkonen-Sinisalo L.; Lepistö A.; Lindblom A.; Plazzer J.; Tjandra D.; Thomas H.; Green K.; Lalloo F.; Crosbie, J; Hill J.; Capella G.; Pineda M.; Navarro M.; Vidal J.; Rønlund K.; Nielsen R.; Yilmaz M.; Elvang L.; Katz L.; Nielsen M.; Broeke, W; Nakken S.; Hovig E.; Sunde L.; Kloor M.; Doeberitz, V; Ahadova A.; Lindor N.; Steinke-Lange V.; Holinski-Feder E.; Mecklin J.; Møller, Pål

• Lack of association between screening interval and cancer stage in Lynch syndrome may be accounted for by over-diagnosis; a prospective Lynch syndrome database report.

  Hereditary cancer in clinical practice

  Seppälä, T; Ahadova A.; Dominguez-Valentin M.; Macrae F.; Evans, D; Therkildsen C.; Sampson J.; Scott R.; Burn J.; Möslein G.; Bernstein I.; Holinski-Feder E.; Pylvänäinen K.; Renkonen-Sinisalo L.; Lepistö A.; Lautrup C.; Lindblom A.; Plazzer J.; Winship I.; Tjandra D.; Katz, H; Aretz S.; Hüneburg R.; Holzapfel S.; Heinimann K.; Valle A.; Neffa F.; Gluck N.; Cappel, H; Vasen H.; Morak M.; Steinke-Lange V.; Engel C.; Rahner N.; Schmiegel W.; Vangala D.; Thomas H.; Green K.; Lalloo F.; Crosbie, J; Hill J.; Capella G.; Pineda M.; Navarro M.; Blanco I.; Broeke S.; Nielsen M.; Ljungmann K.; Nakken S.; Lindor N.; Frayling I.; Hovig E.; Sunde L.; Kloor M.; Mecklin J.; Kalager M.; Møller, Pål

• Highly sensitive MLH1 methylation analysis in blood identifies a cancer patient with low-level mosaic MLH1 epimutation

  Clinical Epigenetics

  Dámaso E.; Canet-Hermida J.; Vargas-Parra G.; Velasco À.; Marín F.; Darder E.; Valle J.; Fernández A.; Izquierdo À.; Mateu G.; Oliveras G.; Escribano C.; Piñol V.; Uchima H.; Soto J.; Hitchins M.; Farrés R.; Lázaro C.; Queralt B.; Brunet J.; Capellá G.; Pineda M.

• Expression and Role of MicroRNAs from the miR-200 Family in the Tumor Formation and Metastatic Propensity of Pancreatic Cancer.

  Molecular therapy. Nucleic acids

  Diaz-Riascos Z.; Ginesta, M; Fabregat J.; Serrano T.; Busquets J.; Buscail L.; Cordelier P.; Capellá G.

• Opportunistic testing of BRCA1, BRCA2 and mismatch repair genes improves the yield of phenotype driven hereditary cancer gene panels

  International Journal of Cancer

  Feliubadaló L.; López-Fernández A.; Pineda M.; Díez O.; Valle J.; Gutiérrez-Enríquez S.; Teulé A.; González S.; Stjepanovic N.; Salinas M.; Capellá G.; Brunet J.; Lázaro C.; Balmaña J.; Campos O.; Carrasco E.; Cuesta R.; Darder E.; Gadea N.; Gómez C.; Grau E.; Iglesias S.; Izquierdo A.; Llort G.; Menéndez M.; Moles-Fernández A.; Montes E.; Muñoz X.; Navarro M.; Cajal T.; Sanz J.; Solanes A.; Stradella A.; Tornero E.; Torres-Esquius S.; Tuset N.; Urgell G.; Velasco A.

• Defining a mutational signature for endometrial cancer screening and early detection

  Cancer Epidemiology

  Costas L.; Palomero L.; Benavente Y.; Guardiola M.; Frias-Gomez J.; Pavón M.; Climent M.; Martinez J.; Barahona M.; Salinas M.; Pineda M.; Bianchi I.; Reventós J.; Capellà G.; Diaz M.; Vidal A.; Piulats J.; Ponce J.; Brunet J.; Bosch F.; Matias-Guiu X.; Alemany L.; Sanjosé S.; Aytés Á.

• The apparent genetic anticipation in PMS2-associated lynch syndrome families is explained by birth-cohort effect

  Cancer Epidemiology Biomarkers and Prevention

  Broeke, W; Rodríguez-Girondo M.; Suerink M.; Aretz S.; Bernstein I.; Capella G.; Engel C.; Gomez-Garcia, B; Hest, P; Doeberitz M.; Lagerstedt-Robinson K.; Letteboer, G W; Moller P.; Os, A; Pineda M.; Rahner N.; Olderode-Berends, J W; Salome J.; Schackert, K; Spruijt L.; Steinke-Lange V.; Wagner A.; Tops, M J; Nielsen M.

• New perspectives on screening and early detection of endometrial cancer

  International Journal of Cancer

  Costas L.; Frias-Gomez J.; Guardiola M.; Benavente Y.; Pineda M.; Pavón M.; Martínez, M; Climent M.; Barahona M.; Canet J.; Paytubi S.; Salinas M.; Palomero L.; Bianchi I.; Reventós J.; Capellà G.; Diaz M.; Vidal A.; Piulats, M; Aytés Á.; Ponce J.; Brunet J.; Bosch, X; Matias-Guiu X.; Alemany L.; Sanjosé S.

• Novel POLE pathogenic germline variant in a family with multiple primary tumors results in distinct mutational signatures

  Human Mutation

  Castellsagué E.; Li R.; Aligue R.; González S.; Sanz J.; Martin E.; Velasco À.; Capellá G.; Stewart, J R; Vidal A.; Majewski J.; Rivera B.; Polak P.; Matias-Guiu X.; Brunet J.; Foulkes, D

• Approaches to functionally validate candidate genetic variants involved in colorectal cancer predisposition

  Molecular Aspects of Medicine

  Bonjoch L.; Mur P.; Arnau-Collell C.; Vargas-Parra G.; Shamloo B.; Franch-Expósito S.; Pineda M.; Capellà G.; Erman B.; Castellví-Bel S.

• Ultra-selection of metastatic colorectal cancer patients using next-generation sequencing to improve clinical efficacy of anti-EGFR therapy

  Annals of Oncology

  Vidal, J; Bellosillo, B; Vivas, C; García-Alfonso, P; Carrato, A; Cano, M T; García-Carbonero, R; Élez, E; Losa, F; Massutí, B; Valladares-Ayerbes, M; Viéitez, J M; Manzano, J L; Azuara, D; Gallego, J; Pairet, S; Capellá, G; Salazar, R; Tabernero, J; Aranda, E; Montagut, C

• Phase II study of high-sensitivity genotyping of KRAS, NRAS, BRAF and PIK3CA to ultra-select metastatic colorectal cancer patients for panitumumab plus FOLFIRI: The ULTRA trial

  Annals of Oncology

  Santos, C; Azuara, D; Viéitez, J M; Páez, D; Falcó, E; Élez, E; López-López, C; Valladares, M; Robles-Díaz, L; García-Alfonso, P; Bugés, C; Durán, G; Salud, A; Navarro, V; Capellá, G; Aranda, E; Salazar, R

• Are women with pathogenic variants in PMS2 and MSH6 really at high lifetime risk of breast cancer?

  Genetics in Medicine

  Evans, D G; Woodward, E R; Lalloo, F; Møller, P; Sampson, J; Burn, J; Moeslein, G; Capella, G

2018

• Primary constitutional MLH1 epimutations: a focal epigenetic event

  British Journal of Cancer

  Dámaso E.; Castillejo A.; Arias M.; Canet-Hermida J.; Navarro M.; Valle J.; Campos O.; Fernández A.; Marín F.; Turchetti D.; García-Díaz J.; Lázaro C.; Genuardi M.; Rueda D.; Alonso Á.; Soto J.; Hitchins M.; Pineda M.; Capellá G.

• New Methylation Biomarker Panel for Early Diagnosis of Dysplasia or Cancer in High-Risk Inflammatory Bowel Disease Patients

  Inflammatory bowel diseases

  Azuara D.; Aussó S.; Rodriguez-Moranta F.; Guardiola J.; Sanjuan X.; Lobaton T.; Boadas J.; Piqueras M.; Monfort D.; Guinó E.; Moreno V.; Capellá G.; Oca J.

• Cancer risk and survival in path-MMR carriers by gene and gender up to 75 years of age: A report from the Prospective Lynch Syndrome Database

  Gut

  Møller, Pål; Seppälä, T; Bernstein I.; Holinski-Feder E.; Sala P.; Evans, D; Lindblom A.; Macrae F.; Blanco I.; Sijmons, H; Jeffries J.; Vasen, F A; Burn J.; Nakken S.; Hovig E.; Rødland E.; Tharmaratnam K.; Cappel, H; Hill J.; Wijnen, T; Jenkins, A; Green K.; Lalloo F.; Sunde L.; Mints M.; Bertario L.; Pineda M.; Navarro M.; Morak M.; Renkonen-Sinisalo L.; Valentin M.; Frayling, M; Plazzer J.; Pylvanainen K.; Genuardi M.; Mecklin J.; Moeslein G.; Sampson, R; Capella G.

2017

• Colorectal cancer incidence in path_MLH1 carriers subjected to different follow-up protocols: a Prospective Lynch Syndrome Database report.

  Hereditary cancer in clinical practice

  Seppälä T.; Pylvänäinen K.; Evans D.; Järvinen H.; Renkonen-Sinisalo L.; Bernstein I.; Holinski-Feder E.; Sala P.; Lindblom A.; Macrae F.; Blanco I.; Sijmons R.; Jeffries J.; Vasen H.; Burn J.; Nakken S.; Hovig E.; Rødland E.; Tharmaratnam K.; Cappel, H; Hill J.; Wijnen J.; Jenkins M.; Genuardi M.; Green K.; Lalloo F.; Sunde L.; Mints M.; Bertario L.; Pineda M.; Navarro M.; Morak M.; Frayling, M; Plazzer J.; Sampson, R; Capella G.; Möslein G.; Mecklin J.; Møller, Pål; Group M.

• Cancer incidence and survival in Lynch syndrome patients receiving colonoscopic and gynaecological surveillance: First report from the prospective Lynch syndrome database

  Gut

  Møller P.; Seppälä T.; Bernstein I.; Holinski-Feder E.; Sala P.; Evans, D; Lindblom A.; Macrae F.; Blanco I.; Sijmons R.; Jeffries J.; Vasen H.; Burn J.; Nakken S.; Hovig E.; Rødland E.; Tharmaratnam K.; Cappel, H; Hill J.; Wijnen J.; Green K.; Lalloo F.; Sunde L.; Mints M.; Bertario L.; Pineda M.; Navarro M.; Morak M.; Renkonen-Sinisalo L.; Frayling, M; Plazzer J.; Pylvanainen K.; Sampson, R; Capella G.; Mecklin J.; Möslein G.

• Incidence of and survival after subsequent cancers in carriers of pathogenic MMR variants with previous cancer: A report from the prospective Lynch syndrome database

  Gut

  Møller, Pål; Seppälä T.; Bernstein I.; Holinski-Feder E.; Sala P.; Evans, D; Lindblom A.; MacRae F.; Blanco I.; Sijmons R.; Jeffries J.; Vasen H.; Burn J.; Nakken S.; Hovig E.; Rødland E.; Tharmaratnam K.; Cappel, H; Hill J.; Wijnen J.; Jenkins M.; Green K.; Lalloo F.; Sunde L.; Mints M.; Bertario L.; Pineda M.; Navarro M.; Morak M.; Renkonen-Sinisalo L.; Frayling, M; Plazzer J.; Pylvanainen K.; Genuardi M.; Mecklin J.; Möslein G.; Sampson, R; Capella G.

• Optimization of RAS/BRAF mutational analysis confirms improvement in patient selection for clinical benefit to anti-EGFR treatment in metastatic colorectal cancer

  Molecular Cancer Therapeutics

  Santos C.; Azuara D.; Garcia-Carbonero R.; Alfonso P.; Carrato A.; Elez M.; Gomez A.; Losa F.; Montagut C.; Massuti B.; Navarro V.; Varela M.; Lopez-Doriga A.; Moreno V.; Valladares M.; Manzano J.; Vieitez J.; Aranda E.; Sanjuan X.; Tabernero J.; Capella G.; Salazar R.

• Benchmarking of whole exome sequencing and Ad Hoc designed panels for genetic testing of hereditary cancer

  Scientific Reports

  Feliubadaló L.; Tonda R.; Gausachs M.; Trotta J.; Castellanos E.; López-Doriga A.; Teulé À.; Tornero E.; Valle J.; Gel B.; Gut M.; Pineda M.; González S.; Menéndez M.; Navarro M.; Capellá G.; Gut I.; Serra E.; Brunet J.; Beltran S.; Lázaro C.

• A comprehensive custom panel design for routine hereditary cancer testing: Preserving control, improving diagnostics and revealing a complex variation landscape

  Scientific Reports

  Castellanos E.; Gel B.; Rosas I.; Tornero E.; Santín S.; Pluvinet R.; Velasco J.; Sumoy L.; Valle J.; Perucho M.; Blanco I.; Navarro M.; Brunet J.; Pineda M.; Feliubadaló L.; Capellá G.; Lázaro C.; Serra E.

• Elucidating the molecular basis of MSH2-deficient tumors by combined germline and somatic analysis

  International Journal of Cancer

  Vargas-Parra, M; González-Acosta M.; Thompson, A; Gómez C.; Fernández A.; Dámaso E.; Pons T.; Morak M.; Valle J.; Iglesias S.; Velasco À.; Solanes A.; Sanjuan X.; Padilla N.; Cruz X.; Valencia A.; Holinski-Feder E.; Brunet J.; Feliubadaló L.; Lázaro C.; Navarro M.; Pineda M.; Capellá G.

• Mutational heterogeneity in APC and KRAS arises at the crypt level and leads to polyclonality in early colorectal tumorigenesis

  Clinical Cancer Research

  Gausachs M.; Borras E.; Chang K.; Gonzalez S.; Azuara D.; Amador A.; Lopez-Doriga A.; Lucas, F; Sanjuan X.; Paules, J; Taggart, W; Davies, E; Ehli, A; Fowler J.; Moreno V.; Pineda M.; You, Y; Lynch, M; Lazaro C.; Navin, E; Scheet, A; Hawk, T; Capella G.; Vilar E.

• Elucidating the clinical significance of two PMS2 missense variants coexisting in a family fulfilling hereditary cancer criteria

  Familial Cancer

  González-Acosta M.; Valle J.; Navarro M.; Thompson, A; Iglesias S.; Sanjuan X.; Paúles M.; Padilla N.; Fernández A.; Cuesta R.; Teulé À.; Plotz G.; Cadiñanos J.; Cruz X.; Balaguer F.; Lázaro C.; Pineda M.; Capellá G.

2016

• Nanofluidic digital PCR and extended genotyping of RAS and BRAF for improved selection of metastatic colorectal cancer patients for anti-EGFR therapies

  Molecular Cancer Therapeutics

  Azuara D.; Santos C.; Lopez-Doriga A.; Grasselli J.; Nadal M.; Sanjuan X.; Marin F.; Vidal J.; Montal R.; Moreno V.; Bellosillo B.; Argiles G.; Elez E.; Dienstmann R.; Montagut C.; Tabernero J.; Capellá G.; Salazar R.

• POLE and POLD1 mutations in 529 kindred with familial colorectal cancer and/or polyposis: Review of reported cases and recommendations for genetic testing and surveillance

  Genetics in Medicine

  Bellido F.; Pineda M.; Aiza G.; Valdés-Mas R.; Navarro M.; Puente, A; Pons T.; González S.; Iglesias S.; Darder E.; Piñol V.; Soto J.; Valencia A.; Blanco I.; Urioste M.; Brunet J.; Lázaro C.; Capellá G.; Puente, S; Valle L.

2015

• Detailed characterization of MLH1 p.D41H and p.N710D variants coexisting in a Lynch syndrome family with conserved MLH1 expression tumors

  Clinical Genetics

  Pineda, M; González-Acosta, M; Thompson, B A; Sánchez, R; Gómez, C; Martínez-López, J; Perea, J; Caldés, T; Rodríguez, Y; Landolfi, S; Balmaña, J; Lázaro, C; Robles, L; Capellá, G; Rueda, D

• Genomic Classifier ColoPrint Predicts Recurrence in Stage II Colorectal Cancer Patients More Accurately Than Clinical Factors

  The Oncologist

  Kopetz S.; Tabernero J.; Rosenberg R.; Jiang Z.; Moreno V.; Bachleitner-Hofmann T.; Lanza G.; Stork-Sloots L.; Maru D.; Simon I.; Capellà G.; Salazar R.

• Tumor growth delay by adjuvant alternating electric fields which appears non-thermally mediated

  Bioelectrochemistry

  Castellví Q.; Ginestà, M; Capellà G.; Ivorra A.

2014

• Prevalence of germline MUTYH mutations among Lynch-like syndrome patients

  European Journal of Cancer

  Castillejo A.; Vargas G.; Castillejo M.; Navarro M.; Barberá V.; González S.; Hernández-Illán E.; Brunet J.; Cajal, Y; Balmaña J.; Oltra S.; Iglesias S.; Velasco À.; Solanes A.; Campos O.; Heras A.; Gallego J.; Carrasco E.; Juan D.; Segura Á.; Chirivella I.; Juan M.; Tena I.; Lázaro C.; Blanco I.; Pineda M.; Capellá G.; Soto J.

• Phosphorylation at ser-181 of oncogenic KRAS is required for tumor growth

  Cancer Research

  Barceló C.; Paco N.; Morell M.; Alvarez-Moya B.; Bota-Rabassedas N.; Jaumot M.; Vilardell F.; Capella G.; Agell N.

• Relationship between methylation and colonic inflammation in inflammatory bowel disease

  World Journal of Gastroenterology

  Lobatón T.; Azuara D.; Rodríguez-Moranta F.; Loayza C.; Sanjuan X.; Oca J.; Fernández-Robles A.; Guardiola J.; Capellá G.

• Paracrine network: Another step in the complexity of resistance to EGFR blockade?

  Clinical Cancer Research

  Salazar R.; Capellà G.; Tabernero J.

• Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database

  Nature Genetics

  Thompson, A; Spurdle, B; Plazzer J.; Greenblatt, S; Akagi K.; Al-Mulla F.; Bapat B.; Bernstein I.; Capellá G.; Dunnen, T; Sart D.; Fabre A.; Farrell, P; Farrington, M; Frayling, M; Frebourg T.; Goldgar, E; Heinen, D; Holinski-Feder E.; Kohonen-Corish M.; Robinson K.; Leung S.; Martins A.; Moller P.; Morak M.; Nystrom M.; Peltomaki P.; Pineda M.; Qi M.; Ramesar R.; Rasmussen L.; Royer-Pokora B.; Scott, J; Sijmons R.; Tavtigian, V; Tops, M; Weber T.; Wijnen J.; Woods, O; Macrae F.; Genuardi M.; Castillejo A.; Sexton A.; Chan, K W; Viel A.; Blanco A.; French A.; Laner A.; Wagner A.; Ouweland A.; Mensenkamp A.; Payá A.; Betz B.; Redeker B.; Smith B.; Espenschied C.; Cummings C.; Engel C.; Fornes C.; Valenzuela C.; Alenda C.; Buchanan D.; Barana D.; Konstantinova D.; Cairns D.; Glaser E.; Silva F.; Lalloo F.; Crucianelli F.; Hogervorst F.; Casey G.; Tomlinson I.; Blanco I.; Villar I.; Garcia-Planells J.; Bigler J.; Shia J.; Martinez-Lopez J.; Gille, J P; Hopper J.; Potter J.; Soto J.; Kantelinen J.; Ellis K.; Mann K.; Varesco L.; Zhang L.; Marchand L.; Marafie, J; Nordling M.; Tibiletti M.; Kahan M.; Ligtenberg M.; Clendenning M.; Jenkins M.; Speevak M.; Digweed M.; Kloor M.; Hitchins M.; Myers M.; Aronson M.; Valentin M.; Kutsche M.; Parsons M.; Walsh M.; Kansikas M.; Zahary M.; Pedroni M.; Heider N.; Poplawski N.; Rahner N.; Lindor, M; Sala P.; Nan P.; Propping P.; Newcomb P.; Sarin R.; Haile R.; Hofstra R.; Ward R.; Tricarico R.; Bacares R.; Young S.; Chialina S.; Kovalenko S.; Gunawardena, R; Moreno S.; Ho S.; Yuen S.; Thibodeau, N; Gallinger S.; Burnett T.; Teitsch T.; Chan T.; Smyrk T.; Cranston T.; Psofaki V.; Steinke-Lange V.; Barbera V.

• Identification of a founder EPCAM deletion in Spanish Lynch syndrome families

  Clinical Genetics

  Mur, P; Pineda, M; Romero, A; Valle, J; Borràs, E; Canal, A; Navarro, M; Brunet, J; Rueda, D; Cajal, T; Lázaro, C; Caldés, T; Blanco, I; Soto, J L; Capellá, G

2013

• Refining the role of PMS2 in Lynch syndrome: germline mutational analysis improved by comprehensive assessment of variants.

  Journal of medical genetics

  Borràs E.; Pineda M.; Cadiñanos J.; Valle J.; Brieger A.; Hinrichsen I.; Cabanillas R.; Navarro M.; Brunet J.; Sanjuan X.; Musulen E.; Klift H.; Lázaro C.; Plotz G.; Blanco I.; Capellá G.

• Genetic variant in the telomerase gene modifies cancer risk in lynch syndrome

  European Journal of Human Genetics

  Bellido F.; Guino E.; Jagmohan-Changur S.; Segui N.; Pineda M.; Navarro M.; Lazaro C.; Blanco I.; Vasen, F A; Moreno V.; Capella G.; Wijnen, T; Valle L.

• Metronomic chemotherapy following the maximum tolerated dose is an effective anti-tumour therapy affecting angiogenesis, tumour dissemination and cancer stem cells

  International Journal of Cancer

  Vives M.; Ginestà, M; Gracova K.; Graupera M.; Casanovas O.; Capellà G.; Serrano T.; Laquente B.; Viñals F.

• Genetic and epigenetic markers in the evaluation of pancreatic masses

  Journal of Clinical Pathology

  Ginestà, M; Mora J.; Mayor R.; Farré A.; Peinado M.; Busquets J.; Serrano T.; Capellá G.; Fabregat J.

• The impact of KRAS mutations on VEGF-A production and tumour vascular network

  BMC Cancer

  Figueras A.; Arbos M.; Quiles M.; Viñals F.; Germà J.; Capellà G.

• Telomere Length and Genetic Anticipation in Lynch Syndrome

  PLoS ONE

  Seguí N.; Pineda M.; Guinó E.; Borràs E.; Navarro M.; Bellido F.; Moreno V.; Lázaro C.; Blanco I.; Capellá G.; Valle L.

• Novel methylation panel for the early detection of neoplasia in high-risk ulcerative colitis and Crohn's colitis patients

  Inflammatory Bowel Diseases

  Azuara D.; Rodriguez-Moranta F.; Oca J.; Sanjuan X.; Guardiola J.; Lobaton T.; Wang A.; Boadas J.; Piqueras M.; Monfort D.; Galter S.; Esteller M.; Moreno V.; Capellá G.

2012

• MLH1 methylation screening is effective in identifying epimutation carriers

  European Journal of Human Genetics

  Pineda M.; Mur P.; Iniesta M.; Borràs E.; Campos O.; Vargas G.; Iglesias S.; Fernández A.; Gruber, B; Lázaro C.; Brunet J.; Navarro M.; Blanco I.; Capellá G.

• Comprehensive functional assessment of MLH1 variants of unknown significance

  Human Mutation

  Borràs E.; Pineda M.; Brieger A.; Hinrichsen I.; Gómez C.; Navarro M.; Balmaña J.; Cajal T.; Torres A.; Brunet J.; Blanco I.; Plotz G.; Lázaro C.; Capellá G.

• MLH1 promoter hypermethylation in the analytical algorithm of Lynch syndrome: A cost-effectiveness study

  European Journal of Human Genetics

  Gausachs M.; Mur P.; Corral J.; Pineda M.; González S.; Benito L.; Menéndez M.; Espins J.; Brunet J.; Iniesta M.; Gruber, B; Lázaro C.; Blanco I.; Capellá G.

• Nanofluidic digital PCR for KRAS mutation detection and quantification in gastrointestinal cancer

  Clinical Chemistry

  Azuara D.; Ginesta, M; Gausachs M.; Rodriguez-Moranta F.; Fabregat J.; Busquets J.; Pelaez N.; Boadas J.; Galter S.; Moreno V.; Costa J.; Oca J.; Capellá G.

2011

• Characterization of new founder alu-mediated rearrangements in MSH2 gene associated with a Lynch syndrome phenotype

  Cancer Prevention Research

  Pérez-Cabornero L.; Flores E.; Sanz M.; Sampedro E.; Becares A.; Aras E.; González J.; Riu M.; Asensio T.; Munar G.; Pino C.; Domínguez M.

• The use of caspase inhibitors in pulsed-field gel electrophoresis may improve the estimation of radiation-induced DNA repair and apoptosis

  Radiation Oncology

  Balart J.; Pueyo G.; Llobet, I; Baro M.; Sole X.; Marin S.; Casanovas O.; Mesia R.; Capella G.

2010

• MLH1 founder mutations with moderate penetrance in Spanish Lynch syndrome families.

  Cancer research

  Borràs E.; Pineda M.; Blanco I.; Jewett, M; Wang F.; Teulé A.; Caldés T.; Urioste M.; Martínez-Bouzas C.; Brunet J.; Balmaña J.; Torres A.; Cajal T.; Sanz J.; Pérez-Cabornero L.; Castellví-Bel S.; Alonso A.; Lanas A.; González S.; Moreno V.; Gruber, B; Rosenberg, A; Mukherjee B.; Lázaro C.; Capellá G.

• Founder effect of a pathogenic MSH2 mutation identified in Spanish families with Lynch syndrome

  Clinical Genetics

  Menéndez, M; Castellví-Bel, S; Pineda, M; Cid, R; Muñoz, J; Gonzáleza, S; Teulé, À; Balaguer, F; Cajal, T; Reñé, M; Blanco, I; Castells, A; Capellà, G

• Novel methylation panel for the early detection of colorectal tumors in stool DNA

  Clinical Colorectal Cancer

  Azuara D.; Rodriguez-Moranta F.; Oca J.; Soriano-Izquierdo A.; Mora J.; Guardiola J.; Biondo S.; Blanco I.; Peinado M.; Moreno V.; Esteller M.; Capellá G.

2008

• Detection of APC gene deletions using quantitative multiplex PCR of short fluorescent fragments

  Clinical Chemistry

  Castellsagué E.; González S.; Nadal M.; Campos O.; Guinó E.; Urioste M.; Blanco I.; Frebourg T.; Capellá G.

• Antiangiogenic effect of gemcitabine following metronomic administration in a pancreas cancer model

  Molecular Cancer Therapeutics

  Laquente B.; Lacasa C.; Ginestà, M; Casanovas O.; Figueras A.; Galán M.; Ribas I.; Germà J.; Capellà G.; Viñals F.

• Non-Hodgkin lymphoma related to hereditary nonpolyposis colorectal cancer in a patient with a novel heterozygous complex deletion in the MSH2 gene

  Genes Chromosomes and Cancer

  Pineda, M; Castellsagué, E; Musulén, E; Llort, G; Frebourg, T; Baert-Desurmont, S; González, S; Capellá, G; Blanco, I

2005

• Founder mutation in familial adenomatous polyposis (FAP) in the Balearic Islands

  Cancer Genetics and Cytogenetics

  González S.; Blanco I.; Campos O.; Julià M.; Reyes J.; Llompart A.; Cabeza E.; Germà J.; Obrador A.; Capellá G.