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1.

BMPR2 as a Novel Predisposition Gene for Hereditary Colorectal Polyposis.

Bonjoch, Laia; Fernandez-Rozadilla, Ceres; Alvarez-Barona, Miriam; Lopez-Novo, Anael; Herrera-Pariente, Cristina; Amigo, Jorge; Bujanda, Luis; Remedios, David; Dacal, Andrés; Cubiella, Joaquín; Balaguer, Francesc; Fernández-Bañares, Fernando; Carracedo, Angel; Jover, Rodrigo; Castellvi-Bel, Sergi; Ruiz-Ponte, Clara.

Gastroenterology ; 165(1): 162-172.e5, 2023 Jul.

Artículo en Inglés | MEDLINE | ID: mdl-36907526

2.

Germline mutations in WNK2 could be associated with serrated polyposis syndrome.

Soares de Lima, Yasmin; Arnau-Collell, Coral; Muñoz, Jenifer; Herrera-Pariente, Cristina; Moreira, Leticia; Ocaña, Teresa; Díaz-Gay, Marcos; Franch-Expósito, Sebastià; Cuatrecasas, Miriam; Carballal, Sabela; Lopez-Novo, Anael; Moreno, Lorena; Fernàndez, Guerau; Díaz de Bustamante, Aranzazu; Peters, Sophia; Sommer, Anna K; Spier, Isabel; Te Paske, Iris B A W; van Herwaarden, Yasmijn J; Castells, Antoni; Bujanda, Luis; Capellà, Gabriel; Steinke-Lange, Verena; Mahmood, Khalid; Joo, JiHoon Eric; Arnold, Julie; Parry, Susan; Macrae, Finlay A; Winship, Ingrid M; Rosty, Christophe; Cubiella, Joaquin; Rodríguez-Alcalde, Daniel; Holinski-Feder, Elke; de Voer, Richarda; Buchanan, Daniel D; Aretz, Stefan; Ruiz-Ponte, Clara; Valle, Laura; Balaguer, Francesc; Bonjoch, Laia; Castellvi-Bel, Sergi.

J Med Genet ; 60(6): 557-567, 2023 06.

Artículo en Inglés | MEDLINE | ID: mdl-36270769

3.

Use of multi-gene panels in patients at high risk of hereditary digestive cancer: position statement of AEG, SEOM, AEGH and IMPaCT-GENÓMICA consortium. / Uso de paneles de genes en pacientes con alto riesgo de cáncer digestivo hereditario: documento de posicionamiento de la AEG, SEOM, AEGH y consorcio IMPaCT-GENÓMICA.

Carballal, Sabela; Balaguer, Francesc; Bujanda, Luis; Capellá, Gabriel; González Santiago, Santiago; Jover, Rodrigo; Moreira, Leticia; Pineda, Marta; Ruiz-Ponte, Clara; Sánchez Heras, Ana Beatriz; Serrano Blanch, Raquel; Soto, José Luis; Vidal Tocino, Rosario; Cubiella, Joaquín.

Gastroenterol Hepatol ; 47(3): 293-318, 2024 Mar.

Artículo en Inglés, Español | MEDLINE | ID: mdl-37315767

4.

A Collaborative Effort to Define Classification Criteria for ATM Variants in Hereditary Cancer Patients.

Feliubadaló, Lidia; Moles-Fernández, Alejandro; Santamariña-Pena, Marta; Sánchez, Alysson T; López-Novo, Anael; Porras, Luz-Marina; Blanco, Ana; Capellá, Gabriel; de la Hoya, Miguel; Molina, Ignacio J; Osorio, Ana; Pineda, Marta; Rueda, Daniel; de la Cruz, Xavier; Diez, Orland; Ruiz-Ponte, Clara; Gutiérrez-Enríquez, Sara; Vega, Ana; Lázaro, Conxi.

Clin Chem ; 67(3): 518-533, 2021 03 01.

Artículo en Inglés | MEDLINE | ID: mdl-33280026

5.

Colorectal cancer genetic variants are also associated with serrated polyposis syndrome susceptibility.

Arnau-Collell, Coral; Soares de Lima, Yasmin; Díaz-Gay, Marcos; Muñoz, Jenifer; Carballal, Sabela; Bonjoch, Laia; Moreira, Leticia; Lozano, Juan José; Ocaña, Teresa; Cuatrecasas, Miriam; Díaz de Bustamante, Aranzazu; Castells, Antoni; Capellà, Gabriel; Bujanda, Luis; Cubiella, Joaquin; Rodríguez-Alcalde, Daniel; Balaguer, Francesc; Ruiz-Ponte, Clara; Valle, Laura; Moreno, Victor; Castellvi-Bel, Sergi.

J Med Genet ; 57(10): 677-682, 2020 10.

Artículo en Inglés | MEDLINE | ID: mdl-32170005

6.

Systematic meta-analyses, field synopsis and global assessment of the evidence of genetic association studies in colorectal cancer.

Montazeri, Zahra; Li, Xue; Nyiraneza, Christine; Ma, Xiangyu; Timofeeva, Maria; Svinti, Victoria; Meng, Xiangrui; He, Yazhou; Bo, Yacong; Morgan, Samuel; Castellví-Bel, Sergi; Ruiz-Ponte, Clara; Fernández-Rozadilla, Ceres; Carracedo, Ángel; Castells, Antoni; Bishop, Timothy; Buchanan, Daniel; Jenkins, Mark A; Keku, Temitope O; Lindblom, Annika; van Duijnhoven, Fränzel J B; Wu, Anna; Farrington, Susan M; Dunlop, Malcolm G; Campbell, Harry; Theodoratou, Evropi; Zheng, Wei; Little, Julian.

Gut ; 69(8): 1460-1471, 2020 08.

Artículo en Inglés | MEDLINE | ID: mdl-31818908

7.

Reply.

Bonjoch, Laia; Castellví-Bel, Sergi; Ruiz-Ponte, Clara.

Gastroenterology ; 165(6): 1577-1578, 2023 Dec.

Artículo en Inglés | MEDLINE | ID: mdl-37741422

8.

Germline Mutations in PALB2, BRCA1, and RAD51C, Which Regulate DNA Recombination Repair, in Patients With Gastric Cancer.

Sahasrabudhe, Ruta; Lott, Paul; Bohorquez, Mabel; Toal, Ted; Estrada, Ana P; Suarez, John J; Brea-Fernández, Alejandro; Cameselle-Teijeiro, José; Pinto, Carla; Ramos, Irma; Mantilla, Alejandra; Prieto, Rodrigo; Corvalan, Alejandro; Norero, Enrique; Alvarez, Carolina; Tapia, Teresa; Carvallo, Pilar; Gonzalez, Luz M; Cock-Rada, Alicia; Solano, Angela; Neffa, Florencia; Della Valle, Adriana; Yau, Chris; Soares, Gabriela; Borowsky, Alexander; Hu, Nan; He, Li-Ji; Han, Xiao-You; Taylor, Philip R; Goldstein, Alisa M; Torres, Javier; Echeverry, Magdalena; Ruiz-Ponte, Clara; Teixeira, Manuel R; Carvajal-Carmona, Luis G.

Gastroenterology ; 152(5): 983-986.e6, 2017 04.

Artículo en Inglés | MEDLINE | ID: mdl-28024868

9.

Evidence for genetic association between chromosome 1q loci and predisposition to colorectal neoplasia.

Schubert, Stephanie A; Ruano, Dina; Elsayed, Fadwa A; Boot, Arnoud; Crobach, Stijn; Sarasqueta, Arantza Farina; Wolffenbuttel, Bruce; van der Klauw, Melanie M; Oosting, Jan; Tops, Carli M; van Eijk, Ronald; Vasen, Hans Fa; Vossen, Rolf Ham; Nielsen, Maartje; Castellví-Bel, Sergi; Ruiz-Ponte, Clara; Tomlinson, Ian; Dunlop, Malcolm G; Vodicka, Pavel; Wijnen, Juul T; Hes, Frederik J; Morreau, Hans; de Miranda, Noel Fcc; Sijmons, Rolf H; van Wezel, Tom.

Br J Cancer ; 117(6): 1215-1223, 2017 Sep 05.

Artículo en Inglés | MEDLINE | ID: mdl-28742792

10.

Association of a let-7 miRNA binding region of TGFBR1 with hereditary mismatch repair proficient colorectal cancer (MSS HNPCC).

Xicola, Rosa M; Bontu, Sneha; Doyle, Brian J; Rawson, Jamie; Garre, Pilar; Lee, Esther; de la Hoya, Miguel; Bessa, Xavier; Clofent, Joan; Bujanda, Luis; Balaguer, Francesc; Castellví-Bel, Sergi; Alenda, Cristina; Jover, Rodrigo; Ruiz-Ponte, Clara; Syngal, Sapna; Andreu, Montserrat; Carracedo, Angel; Castells, Antoni; Newcomb, Polly A; Lindor, Noralane; Potter, John D; Baron, John A; Ellis, Nathan A; Caldes, Trinidad; LLor, Xavier.

Carcinogenesis ; 37(8): 751-8, 2016 08.

Artículo en Inglés | MEDLINE | ID: mdl-27234654

11.

Diagnosis of Constitutional Mismatch Repair-Deficiency Syndrome Based on Microsatellite Instability and Lymphocyte Tolerance to Methylating Agents.

Bodo, Sahra; Colas, Chrystelle; Buhard, Olivier; Collura, Ada; Tinat, Julie; Lavoine, Noémie; Guilloux, Agathe; Chalastanis, Alexandra; Lafitte, Philippe; Coulet, Florence; Buisine, Marie-Pierre; Ilencikova, Denisa; Ruiz-Ponte, Clara; Kinzel, Miriam; Grandjouan, Sophie; Brems, Hilde; Lejeune, Sophie; Blanché, Hélène; Wang, Qing; Caron, Olivier; Cabaret, Odile; Svrcek, Magali; Vidaud, Dominique; Parfait, Béatrice; Verloes, Alain; Knappe, Ulrich J; Soubrier, Florent; Mortemousque, Isabelle; Leis, Alexander; Auclair-Perrossier, Jessie; Frébourg, Thierry; Fléjou, Jean-François; Entz-Werle, Natacha; Leclerc, Julie; Malka, David; Cohen-Haguenauer, Odile; Goldberg, Yael; Gerdes, Anne-Marie; Fedhila, Faten; Mathieu-Dramard, Michèle; Hamelin, Richard; Wafaa, Badre; Gauthier-Villars, Marion; Bourdeaut, Franck; Sheridan, Eamonn; Vasen, Hans; Brugières, Laurence; Wimmer, Katharina; Muleris, Martine; Duval, Alex.

Gastroenterology ; 149(4): 1017-29.e3, 2015 Oct.

Artículo en Inglés | MEDLINE | ID: mdl-26116798

12.

Prevalence of MLH1 constitutional epimutations as a cause of Lynch syndrome in unselected versus selected consecutive series of patients with colorectal cancer.

Castillejo, Adela; Hernández-Illán, Eva; Rodriguez-Soler, María; Pérez-Carbonell, Lucía; Egoavil, Cecilia; Barberá, Victor M; Castillejo, María-Isabel; Guarinos, Carla; Martínez-de-Dueñas, Eduardo; Juan, María-Jose; Sánchez-Heras, Ana-Beatriz; García-Casado, Zaida; Ruiz-Ponte, Clara; Brea-Fernández, Alejandro; Juárez, Miriam; Bujanda, Luis; Clofent, Juan; Llor, Xavier; Andreu, Montserrat; Castells, Antoni; Carracedo, Angel; Alenda, Cristina; Payá, Artemio; Jover, Rodrigo; Soto, José-Luis.

J Med Genet ; 52(7): 498-502, 2015 Jul.

Artículo en Inglés | MEDLINE | ID: mdl-25908759

13.

A candidate gene study of capecitabine-related toxicity in colorectal cancer identifies new toxicity variants at DPYD and a putative role for ENOSF1 rather than TYMS.

Rosmarin, Dan; Palles, Claire; Pagnamenta, Alistair; Kaur, Kulvinder; Pita, Guillermo; Martin, Miguel; Domingo, Enric; Jones, Angela; Howarth, Kimberley; Freeman-Mills, Luke; Johnstone, Elaine; Wang, Haitao; Love, Sharon; Scudder, Claire; Julier, Patrick; Fernández-Rozadilla, Ceres; Ruiz-Ponte, Clara; Carracedo, Angel; Castellvi-Bel, Sergi; Castells, Antoni; Gonzalez-Neira, Anna; Taylor, Jenny; Kerr, Rachel; Kerr, David; Tomlinson, Ian.

Gut ; 64(1): 111-20, 2015 Jan.

Artículo en Inglés | MEDLINE | ID: mdl-24647007

14.

Thyroid cancer GWAS identifies 10q26.12 and 6q14.1 as novel susceptibility loci and reveals genetic heterogeneity among populations.

Mancikova, Veronika; Cruz, Raquel; Inglada-Pérez, Lucía; Fernández-Rozadilla, Ceres; Landa, Iñigo; Cameselle-Teijeiro, José; Celeiro, Catuxa; Pastor, Susana; Velázquez, Antonia; Marcos, Ricard; Andía, Victor; Álvarez-Escolá, Cristina; Meoro, Amparo; Schiavi, Francesca; Opocher, Giuseppe; Quintela, Inés; Ansede-Bermejo, Juan; Ruiz-Ponte, Clara; Santisteban, Pilar; Robledo, Mercedes; Carracedo, Angel.

Int J Cancer ; 137(8): 1870-8, 2015 Oct 15.

Artículo en Inglés | MEDLINE | ID: mdl-25855579

15.

Whole-exome sequencing identifies rare pathogenic variants in new predisposition genes for familial colorectal cancer.

Esteban-Jurado, Clara; Vila-Casadesús, Maria; Garre, Pilar; Lozano, Juan José; Pristoupilova, Anna; Beltran, Sergi; Muñoz, Jenifer; Ocaña, Teresa; Balaguer, Francesc; López-Cerón, Maria; Cuatrecasas, Miriam; Franch-Expósito, Sebastià; Piqué, Josep M; Castells, Antoni; Carracedo, Angel; Ruiz-Ponte, Clara; Abulí, Anna; Bessa, Xavier; Andreu, Montserrat; Bujanda, Luis; Caldés, Trinidad; Castellví-Bel, Sergi.

Genet Med ; 17(2): 131-42, 2015 Feb.

Artículo en Inglés | MEDLINE | ID: mdl-25058500

16.

Diagnostic criteria for constitutional mismatch repair deficiency syndrome: suggestions of the European consortium 'care for CMMRD' (C4CMMRD).

Wimmer, Katharina; Kratz, Christian P; Vasen, Hans F A; Caron, Olivier; Colas, Chrystelle; Entz-Werle, Natacha; Gerdes, Anne-Marie; Goldberg, Yael; Ilencikova, Denisa; Muleris, Martine; Duval, Alex; Lavoine, Noémie; Ruiz-Ponte, Clara; Slavc, Irene; Burkhardt, Brigit; Brugieres, Laurence.

J Med Genet ; 51(6): 355-65, 2014 Jun.

Artículo en Inglés | MEDLINE | ID: mdl-24737826

17.

Refinement of the associations between risk of colorectal cancer and polymorphisms on chromosomes 1q41 and 12q13.13.

Spain, Sarah L; Carvajal-Carmona, Luis G; Howarth, Kimberley M; Jones, Angela M; Su, Zhan; Cazier, Jean-Baptiste; Williams, Jennet; Aaltonen, Lauri A; Pharoah, Paul; Kerr, David J; Cheadle, Jeremy; Li, Li; Casey, Graham; Vodicka, Pavel; Sieber, Oliver; Lipton, Lara; Gibbs, Peter; Martin, Nicholas G; Montgomery, Grant W; Young, Joanne; Baird, Paul N; Morreau, Hans; van Wezel, Tom; Ruiz-Ponte, Clara; Fernandez-Rozadilla, Ceres; Carracedo, Angel; Castells, Antoni; Castellvi-Bel, Sergi; Dunlop, Malcolm; Houlston, Richard S; Tomlinson, Ian P M.

Hum Mol Genet ; 21(4): 934-46, 2012 Feb 15.

Artículo en Inglés | MEDLINE | ID: mdl-22076443

18.

Risk of cancer in cases of suspected lynch syndrome without germline mutation.

Rodríguez-Soler, María; Pérez-Carbonell, Lucía; Guarinos, Carla; Zapater, Pedro; Castillejo, Adela; Barberá, Victor M; Juárez, Miriam; Bessa, Xavier; Xicola, Rosa M; Clofent, Juan; Bujanda, Luis; Balaguer, Francesc; Reñé, Josep-Maria; de-Castro, Luisa; Marín-Gabriel, José C; Lanas, Angel; Cubiella, Joaquín; Nicolás-Pérez, David; Brea-Fernández, Alejandro; Castellví-Bel, Sergi; Alenda, Cristina; Ruiz-Ponte, Clara; Carracedo, Angel; Castells, Antoni; Andreu, Montserrat; Llor, Xavier; Soto, José L; Payá, Artemio; Jover, Rodrigo.

Gastroenterology ; 144(5): 926-932.e1; quiz e13-4, 2013 May.

Artículo en Inglés | MEDLINE | ID: mdl-23354017

19.

Multiple common susceptibility variants near BMP pathway loci GREM1, BMP4, and BMP2 explain part of the missing heritability of colorectal cancer.

Tomlinson, Ian P M; Carvajal-Carmona, Luis G; Dobbins, Sara E; Tenesa, Albert; Jones, Angela M; Howarth, Kimberley; Palles, Claire; Broderick, Peter; Jaeger, Emma E M; Farrington, Susan; Lewis, Annabelle; Prendergast, James G D; Pittman, Alan M; Theodoratou, Evropi; Olver, Bianca; Walker, Marion; Penegar, Steven; Barclay, Ella; Whiffin, Nicola; Martin, Lynn; Ballereau, Stephane; Lloyd, Amy; Gorman, Maggie; Lubbe, Steven; Howie, Bryan; Marchini, Jonathan; Ruiz-Ponte, Clara; Fernandez-Rozadilla, Ceres; Castells, Antoni; Carracedo, Angel; Castellvi-Bel, Sergi; Duggan, David; Conti, David; Cazier, Jean-Baptiste; Campbell, Harry; Sieber, Oliver; Lipton, Lara; Gibbs, Peter; Martin, Nicholas G; Montgomery, Grant W; Young, Joanne; Baird, Paul N; Gallinger, Steven; Newcomb, Polly; Hopper, John; Jenkins, Mark A; Aaltonen, Lauri A; Kerr, David J; Cheadle, Jeremy; Pharoah, Paul.

PLoS Genet ; 7(6): e1002105, 2011 Jun.

Artículo en Inglés | MEDLINE | ID: mdl-21655089

20.

Cumulative impact of common genetic variants and other risk factors on colorectal cancer risk in 42,103 individuals.

Dunlop, Malcolm G; Tenesa, Albert; Farrington, Susan M; Ballereau, Stephane; Brewster, David H; Koessler, Thibaud; Pharoah, Paul; Schafmayer, Clemens; Hampe, Jochen; Völzke, Henry; Chang-Claude, Jenny; Hoffmeister, Michael; Brenner, Hermann; von Holst, Susanna; Picelli, Simone; Lindblom, Annika; Jenkins, Mark A; Hopper, John L; Casey, Graham; Duggan, David; Newcomb, Polly A; Abulí, Anna; Bessa, Xavier; Ruiz-Ponte, Clara; Castellví-Bel, Sergi; Niittymäki, Iina; Tuupanen, Sari; Karhu, Auli; Aaltonen, Lauri; Zanke, Brent; Hudson, Tom; Gallinger, Steven; Barclay, Ella; Martin, Lynn; Gorman, Maggie; Carvajal-Carmona, Luis; Walther, Axel; Kerr, David; Lubbe, Steven; Broderick, Peter; Chandler, Ian; Pittman, Alan; Penegar, Steven; Campbell, Harry; Tomlinson, Ian; Houlston, Richard S.

Gut ; 62(6): 871-81, 2013 Jun.

Artículo en Inglés | MEDLINE | ID: mdl-22490517

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