Search Results - "Ponte, Clara Ruiz"

Comprehensive analysis of constitutional mismatch repair deficiency‐associated non‐Hodgkin lymphomas in a global cohort by Rigaud, Charlotte, Forster, Victoria J., Al‐Tarrah, Hiba, Attarbaschi, Andishe, Bianchi, Vanessa, Burke, Amos, Burkhardt, Birgit, Colas, Chrystelle, Devalck, Christine, Edwards, Melissa, Elitzur, Sarah, Garthe, Anne‐Kathrin, Goldberg, Yael, Guerrini‐Rousseau, Léa, Horpaopan, Sukanya, Januszkiewicz‐Lewandowska, Danuta, Kabíčková, Edita, Kratz, Christian P., Loeffen, Jan, Pérez‐Alonso, Vanessa, Pineda, Marta, Minard‐Colin, Véronique, Rueda, Daniel, Ruiz‐Ponte, Clara, Trinquand, Amelie, Uyttebroeck, Anne, Wimmer, Katharina, Auperin, Anne, Tabori, Uri, Brugieres, Laurence

“…Background Constitutional mismatch repair deficiency syndrome (CMMRD) is a rare childhood cancer predisposition syndrome associated with a broad spectrum of…”
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Thyroid cancer GWAS identifies 10q26.12 and 6q14.1 as novel susceptibility loci and reveals genetic heterogeneity among populations by 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

“…Thyroid cancer is the most heritable cancer of all those not displaying typical Mendelian inheritance. However, most of the genetic factors that would explain…”
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Diagnostic criteria for constitutional mismatch repair deficiency syndrome: suggestions of the European consortium 'care for CMMRD' (C4CMMRD) by 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

“…Constitutional mismatch repair deficiency (CMMRD) syndrome is a distinct childhood cancer predisposition syndrome that results from biallelic germline…”
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Molecular analysis of the APC and MUTYH genes in Galician and Catalonian FAP families: a different spectrum of mutations? by Gómez-Fernández, Nuria, Castellví-Bel, Sergi, Fernández-Rozadilla, Ceres, Balaguer, Francesc, Muñoz, Jenifer, Madrigal, Irene, Milà, Montserrat, Graña, Begoña, Vega, Ana, Castells, Antoni, Carracedo, Angel, Ruiz-Ponte, Clara

“…Familial adenomatous polyposis (FAP) is an autosomal dominant-inherited colorectal cancer syndrome, caused by germline mutations in the APC gene. Recently,…”
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Mutational Signature Analysis Reveals NTHL1 Deficiency to Cause a Multi-tumor Phenotype by Grolleman, Judith E., de Voer, Richarda M., Elsayed, Fadwa A., Nielsen, Maartje, Weren, Robbert D.A., Palles, Claire, Ligtenberg, Marjolijn J.L., Vos, Janet R., ten Broeke, Sanne W., de Miranda, Noel F.C.C., Kuiper, Renske A., Kamping, Eveline J., Jansen, Erik A.M., Vink-Börger, M. Elisa, Popp, Isabell, Lang, Alois, Spier, Isabel, Hüneburg, Robert, James, Paul A., Li, Na, Staninova, Marija, Lindsay, Helen, Cockburn, David, Spasic-Boskovic, Olivera, Clendenning, Mark, Sweet, Kevin, Capellá, Gabriel, Sjursen, Wenche, Høberg-Vetti, Hildegunn, Jongmans, Marjolijn C., Neveling, Kornelia, Geurts van Kessel, Ad, Morreau, Hans, Hes, Frederik J., Sijmons, Rolf H., Schackert, Hans K., Ruiz-Ponte, Clara, Dymerska, Dagmara, Lubinski, Jan, Rivera, Barbara, Foulkes, William D., Tomlinson, Ian P., Valle, Laura, Buchanan, Daniel. D., Kenwrick, Sue, Adlard, Julian, Dimovski, Aleksandar J., Campbell, Ian G., Aretz, Stefan, Schindler, Detlev, van Wezel, Tom, Hoogerbrugge, Nicoline, Kuiper, Roland P.

“…Biallelic germline mutations affecting NTHL1 predispose carriers to adenomatous polyposis and colorectal cancer, but the complete phenotype is unknown. We…”
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Patterns of genetic differentiation and the footprints of historical migrations in the Iberian Peninsula by Bycroft, Clare, Fernandez-Rozadilla, Ceres, Ruiz-Ponte, Clara, Quintela, Inés, Carracedo, Ángel, Donnelly, Peter, Myers, Simon

“…The Iberian Peninsula is linguistically diverse and has a complex demographic history, including a centuries-long period of Muslim rule. Here, we study the…”
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Development of a panel of genome-wide ancestry informative markers to study admixture throughout the Americas by Galanter, Joshua Mark, Fernandez-Lopez, Juan Carlos, Gignoux, Christopher R, Barnholtz-Sloan, Jill, Fernandez-Rozadilla, Ceres, Via, Marc, Hidalgo-Miranda, Alfredo, Contreras, Alejandra V, Figueroa, Laura Uribe, Raska, Paola, Jimenez-Sanchez, Gerardo, Zolezzi, Irma Silva, Torres, Maria, Ponte, Clara Ruiz, Ruiz, Yarimar, Salas, Antonio, Nguyen, Elizabeth, Eng, Celeste, Borjas, Lisbeth, Zabala, William, Barreto, Guillermo, González, Fernando Rondón, Ibarra, Adriana, Taboada, Patricia, Porras, Liliana, Moreno, Fabián, Bigham, Abigail, Gutierrez, Gerardo, Brutsaert, Tom, León-Velarde, Fabiola, Moore, Lorna G, Vargas, Enrique, Cruz, Miguel, Escobedo, Jorge, Rodriguez-Santana, José, Rodriguez-Cintrón, William, Chapela, Rocio, Ford, Jean G, Bustamante, Carlos, Seminara, Daniela, Shriver, Mark, Ziv, Elad, Burchard, Esteban Gonzalez, Haile, Robert, Parra, Esteban, Carracedo, Angel

“…Most individuals throughout the Americas are admixed descendants of Native American, European, and African ancestors. Complex historical factors have resulted…”
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Multiple common susceptibility variants near BMP pathway loci GREM1, BMP4, and BMP2 explain part of the missing heritability of colorectal cancer by 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, Casey, Graham, Houlston, Richard S, Dunlop, Malcolm G

“…Genome-wide association studies (GWAS) have identified 14 tagging single nucleotide polymorphisms (tagSNPs) that are associated with the risk of colorectal…”
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Exome sequencing of early-onset patients supports genetic heterogeneity in colorectal cancer by Fernández-Rozadilla, C., Álvarez-Barona, M., Quintana, I., López-Novo, A., Amigo, J., Cameselle-Teijeiro, J. M., Roman, E., Gonzalez, D., Llor, X., Bujanda, L., Bessa, X., Jover, R., Balaguer, F., Castells, A., Castellví-Bel, S., Capellá, G., Carracedo, A., Valle, L., Ruiz-Ponte, Clara

“…Colorectal cancer (CRC) is a complex disease that can be caused by a spectrum of genetic variants ranging from low to high penetrance changes, that interact…”
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Cumulative impact of common genetic variants and other risk factors on colorectal cancer risk in 42,103 individuals by 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

“…Colorectal cancer (CRC) has a substantial heritable component. Common genetic variation has been shown to contribute to CRC risk. A study was conducted in a…”
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Common variants at 2q37.3, 8q24.21, 15q21.3 and 16q24.1 influence chronic lymphocytic leukemia risk by Hall, Andrew G, Allsup, David J, Rosenquist, Richard, Smedby, Karin E, Fegan, Chris, Ruiz-Ponte, Clara, Torres, María, Mainou-Fowler, Tryfonia, Pratt, Guy, Dobbins, Sara E, Houlston, Richard S, Sunter, Nicola J, Dearden, Claire, Broderick, Peter, Matutes, Estella, Enjuanes, Anna, Crowther-Swanepoel, Dalemari, Oscier, David, Juliusson, Gunnar, Dyer, Martin J S, Bailey, James R, Pepper, Chris, Harris, Robert J, Parker, Anton, Catovsky, Daniel, Campo, Elias, Montserrat, Emilio, Di Bernardo, Maria Chiara, Mansouri, Mahmoud, Pettitt, Andrew R, Carracedo, Angel, Summerfield, Geoffrey, Jurlander, Jesper, Jackson, Graham H, Allan, James M

“…To identify new risk variants for chronic lymphocytic leukemia (CLL), we conducted a genome-wide association study of 299,983 tagging SNPs, with validation in…”
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Evidence for classification of c.1852_1853AA>GC in MLH1 as a neutral variant for Lynch syndrome by Castillejo, Adela, Guarinos, Carla, Martinez-Canto, Ana, Barbera, Victor-Manuel, Egoavil, Cecilia, Castillejo, Maria-Isabel, Perez-Carbonell, Lucia, Sanchez-Heras, Ana-Beatriz, Segura, Angel, Ochoa, Enrique, Lazaro, Rafael, Ruiz-Ponte, Clara, Bujanda, Luis, Andreu, Montserrat, Castells, Antoni, Carracedo, Angel, Llor, Xavier, Clofent, Juan, Alenda, Cristina, Paya, Artemio, Jover, Rodrigo, Soto, Jose-Luis

“…Lynch syndrome (LS) is an autosomal dominant inherited cancer syndrome characterized by early onset cancers of the colorectum, endometrium and other tumours. A…”
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Role of GALNT12 in the genetic predisposition to attenuated adenomatous polyposis syndrome by Lorca, Víctor, Rueda, Daniel, Martín-Morales, Lorena, Poves, Carmen, Fernández-Aceñero, María Jesús, Ruiz-Ponte, Clara, Llovet, Patricia, Marrupe, David, García-Barberán, Vanesa, García-Paredes, Beatriz, Pérez-Segura, Pedro, de la Hoya, Miguel, Díaz-Rubio, Eduardo, Caldés, Trinidad, Garre, Pilar

“…The involvement of GALNT12 in colorectal carcinogenesis has been demonstrated but it is not clear to what extent it is implicated in familial CRC…”
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Evidence for genetic association between chromosome 1q loci and predisposition to colorectal neoplasia by 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

“…Background: A substantial fraction of familial colorectal cancer (CRC) and polyposis heritability remains unexplained. This study aimed to identify…”
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New genes emerging for colorectal cancer predisposition by Esteban-Jurado, Clara, Garre, Pilar, Vila, Maria, Lozano, Juan José, Pristoupilova, Anna, Beltrán, Sergi, Abulí, Anna, Muñoz, Jenifer, Balaguer, Francesc, Ocaña, Teresa, Castells, Antoni, Piqué, Josep M, Carracedo, Angel, Ruiz-Ponte, Clara, Bessa, Xavier, Andreu, Montserrat, Bujanda, Luis, Caldés, Trinidad, Castellví-Bel, Sergi

“…Colorectal cancer(CRC)is one of the most frequent neoplasms and an important cause of mortality in the developed world.This cancer is caused by both genetic…”
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Susceptibility Genetic Variants Associated With Colorectal Cancer Risk Correlate With Cancer Phenotype by Abulí, Anna, Bessa, Xavier, González, Juan Ramón, Ruiz–Ponte, Clara, Cáceres, Alejandro, Muñoz, Jenifer, Gonzalo, Victoria, Balaguer, Francesc, Fernández–Rozadilla, Ceres, González, Dolors, de Castro, Luisa, Clofent, Juan, Bujanda, Luís, Cubiella, Joaquín, Reñé, Josep M, Morillas, Juan Diego, Lanas, Ángel, Rigau, Joaquim, García, Ana M, Latorre, Mercedes, Saló, Joan, Fernández Bañares, Fernando, Argüello, Lídia, Peña, Elena, Vilella, Àngels, Riestra, Sabino, Carreño, Ramiro, Paya, Artemio, Alenda, Cristina, Xicola, Rosa M, Doyle, Brian J, Jover, Rodrigo, Llor, Xavier, Carracedo, Angel, Castells, Antoni, Castellví–Bel, Sergi, Andreu, Montserrat

“…Background & Aims Ten common low-penetrant genetic variants have been consistently associated with colorectal cancer (CRC) risk; little is known about the…”
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Correspondence: SEMA4A variation and risk of colorectal cancer by Kinnersley, Ben, Chubb, Daniel, Dobbins, Sara E., Frampton, Matthew, Buch, Stephan, Timofeeva, Maria N., Castellví-Bel, Sergi, Farrington, Susan M., Forsti, Asta, Hampe, Jochen, Hemminki, Kari, Hofstra, Robert M. W., Northwood, Emma, Palles, Claire, Pinheiro, Manuela, Ruiz-Ponte, Clara, Schafmayer, Clemens, Teixeira, Manuel R., Westers, Helga, van Wezel, Tom, Timothy Bishop, D., Tomlinson, Ian, Dunlop, Malcolm G., Houlston, Richard S.

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Verification that common variation at 2q37.1, 6p25.3, 11q24.1, 15q23, and 19q13.32 influences chronic lymphocytic leukaemia risk by Crowther‐Swanepoel, Dalemari, Mansouri, Mahmoud, Enjuanes, Anna, Vega, Ana, Smedby, Karin E., Ruiz‐Ponte, Clara, Jurlander, Jesper, Juliusson, Gunnar, Montserrat, Emilio, Catovsky, Daniel, Campo, Elias, Carracedo, Angel, Rosenquist, Richard, Houlston, Richard S.

“…Summary A recent genome wide association study of chronic lymphocytic leukaemia (CLL) provided evidence that common variation at 2q13 (rs17483466), 2q37.1…”
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Rare germline copy number variants in colorectal cancer predisposition characterized by exome sequencing analysis by Franch-Expósito, Sebastià, Esteban-Jurado, Clara, Garre, Pilar, Quintanilla, Isabel, Duran-Sanchon, Saray, Díaz-Gay, Marcos, Bonjoch, Laia, Cuatrecasas, Miriam, Samper, Esther, Muñoz, Jenifer, Ocaña, Teresa, Carballal, Sabela, López-Cerón, María, Castells, Antoni, Vila-Casadesús, Maria, Derdak, Sophia, Laurie, Steven, Beltran, Sergi, Carvajal, Jaime, Bujanda, Luis, Ruiz-Ponte, Clara, Camps, Jordi, Gironella, Meritxell, Lozano, Juan José, Balaguer, Francesc, Cubiella, Joaquín, Caldés, Trinidad, Castellví-Bel, Sergi

“…Colorectal cancer （CRC） is one of the most common neoplasms and an important cause of mortality worldwide （http：//globocan. iarc.fr]）. Approximately 35% of the…”
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Case-control study for colorectal cancer genetic susceptibility in EPICOLON: previously identified variants and mucins by Abulí, Anna, Fernández-Rozadilla, Ceres, Alonso-Espinaco, Virginia, Muñoz, Jenifer, Gonzalo, Victoria, Bessa, Xavier, González, Dolors, Clofent, Joan, Cubiella, Joaquin, Morillas, Juan D, Rigau, Joaquim, Latorre, Mercedes, Fernández-Bañares, Fernando, Peña, Elena, Riestra, Sabino, Payá, Artemio, Jover, Rodrigo, Xicola, Rosa M, Llor, Xavier, Carvajal-Carmona, Luis, Villanueva, Cristina M, Moreno, Victor, Piqué, Josep M, Carracedo, Angel, Castells, Antoni, Andreu, Montserrat, Ruiz-Ponte, Clara, Castellví-Bel, Sergi

“…Colorectal cancer (CRC) is the second leading cause of cancer death in developed countries. Familial aggregation in CRC is also important outside syndromic…”
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