Search Results - "Lázaro García, Conxi"

Neurofibromatosis type 1 families with first-degree relatives harbouring distinct NF1 pathogenic variants. Genetic counselling and familial diagnosis: what should be offered? by Garcia, Belen, Catasus, Nuria, Ros, Andrea, Rosas, Inma, Negro, Alejandro, Guerrero-Murillo, Mercedes, Valero, Ana Maria, Duat-Rodriguez, Anna, Becerra, Juan Luis, Bonache, Sandra, Lázaro Garcia, Conxi, Comas, Carmina, Bielsa, Isabel, Serra, Eduard, Hernández-Chico, Concepción, Martin, Yolanda, Castellanos, Elisabeth, Blanco, Ignacio

“…Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder caused by pathogenic variants in Recently, testing has been included as a clinical criterion…”
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Identification of six new susceptibility loci for invasive epithelial ovarian cancer by Lee, Andrew, Pejovic, Tanja, Li, Qiyuan, Hazelett, Dennis, Miron, Alexander, Southey, Melissa, Terry, Mary Beth, Buys, Saundra S, Janavicius, Ramunas, Barrowdale, Daniel, Dennis, Joe, Papi, Laura, Konstantopoulou, Irene, Frost, Debra, Platte, Radka, Ellis, Steve, Sinilnikova, Olga M, Damiola, Francesca, Mazoyer, Sylvie, Stoppa-Lyonnet, Dominique, Piedmonte, Marion, O'Malley, David M, de la Hoya, Miguel, Aittomäki, Kristiina, Rookus, Matti A, Tihomirova, Laima, Hamann, Ute, Imyanitov, Evgeny N, Hogervorst, Frans B L, Diez, Orland, Blanco, Ignacio, Lubinski, Jan, Sukiennicki, Grzegorz, Barkardottir, Rosa B, Plante, Marie, Montagna, Marco, Tognazzo, Silvia, Teixeira, Manuel R, Pankratz, Vernon S, Wang, Xianshu, Vijai, Joseph, Aghajanian, Carol A, Berger, Andreas, Tea, Muy-Kheng, Rennert, Gad, Glendon, Gord, Kruse, Torben A, Thomassen, Mads, Zidan, Jamal, Einbeigi, Zakaria, Nussbaum, Robert L, Lester, Jenny, Lambrechts, Diether, Lambrechts, Sandrina, Dicks, Ed, Rossing, Mary Anne, Eilber, Ursula, Wilkens, Lynne R, Hillemanns, Peter, Antonenkova, Natalia, Leminen, Arto, Modugno, Francesmary, Ness, Roberta B, Matsuo, Keitaro, Hosono, Satoyo, Kjaer, Susanne Kruger, Hogdall, Estrid, Woo, Yin-Ling, Goode, Ellen L, Berchuck, Andrew, Iversen, Edwin S, Cramer, Daniel W, Terry, Kathryn L, Bandera, Elisa V, Orlow, Irene, Tangen, Ingvild L, Aben, Katja K H, Brooks-Wilson, Angela, Cybulski, Cezary, Lundvall, Lene, Baker, Helen, Eccles, Diana, Paul, James, Carty, Karen, McGuire, Valerie, Zheng, Wei, Gao, Yu-Tang, Rosen, Barry, Risch, Harvey A, Narod, Steven A, Monteiro, Alvaro N, Lin, Hui-Yi, Tsai, Ya-Yu, Ziogas, Argyrios, Anton-Culver, Hoda, Gentry-Maharaj, Aleksandra, Menon, Usha, Dansonka-Mieszkowska, Agnieszka, Easton, Douglas F, Chenevix-Trench, Georgia

“…Georgia Chenevix-Trench and colleagues report meta-analyses of genome-wide association studies identifying six loci newly associated with epithelial ovarian…”
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A comprehensive custom panel design for routine hereditary cancer testing: preserving control, improving diagnostics and revealing a complex variation landscape by Castellanos, Elisabeth, Gel, Bernat, Rosas, Inma, Tornero, Eva, Santín, Sheila, Pluvinet, Raquel, Velasco, Juan, Sumoy, Lauro, del Valle, Jesús, Perucho, Manuel, Blanco, Ignacio, Navarro, Matilde, Brunet, Joan, Pineda, Marta, Feliubadaló, Lidia, Capellá, Gabi, Lázaro, Conxi, Serra, Eduard

“…We wanted to implement an NGS strategy to globally analyze hereditary cancer with diagnostic quality while retaining the same degree of understanding and…”
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DNA Glycosylases Involved in Base Excision Repair May Be Associated with Cancer Risk in BRCA1 and BRCA2 Mutation Carriers by Menéndez Vilà, Mireia, Lázaro García, Conxi, Blanco Guillermo, Ignacio

“…Single Nucleotide Polymorphisms (SNPs) in genes involved in the DNA Base Excision Repair (BER) pathway could be associated with cancer risk in carriers of…”
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Computational Tools for Splicing Defect Prediction in Breast/Ovarian Cancer Genes: How Efficient Are They at Predicting RNA Alterations? by Moles-Fernández, Alejandro, Duran-Lozano, Laura, Montalban, Gemma, Bonache, Sandra, López-Perolio, Irene, Menéndez, Mireia, Santamariña, Marta, Behar, Raquel, Blanco, Ana, Carrasco, Estela, López-Fernández, Adrià, Stjepanovic, Neda, Balmaña, Judith, Capellá, Gabriel, Pineda, Marta, Vega, Ana, Lázaro, Conxi, de la Hoya, Miguel, Diez, Orland, Gutiérrez-Enríquez, Sara

“…tools for splicing defect prediction have a key role to assess the impact of variants of uncertain significance. Our aim was to evaluate the performance of a…”
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Identification of a BRCA2-specific modifier locus at 6p24 related to breast cancer risk by Gaudet, Mia M, Kuchenbaecker, Karoline B, Vijai, Joseph, Klein, Robert J, Kirchhoff, Tomas, McGuffog, Lesley, Barrowdale, Daniel, Dunning, Alison M, Lee, Andrew, Dennis, Joe, Healey, Sue, Dicks, Ed, Soucy, Penny, Sinilnikova, Olga M, Pankratz, Vernon S, Wang, Xianshu, Eldridge, Ronald C, Tessier, Daniel C, Vincent, Daniel, Bacot, Francois, Hogervorst, Frans B L, Peock, Susan, Stoppa-Lyonnet, Dominique, Peterlongo, Paolo, Schmutzler, Rita K, Nathanson, Katherine L, Piedmonte, Marion, Singer, Christian F, Thomassen, Mads, Hansen, Thomas v O, Neuhausen, Susan L, Blanco, Ignacio, Greene, Mark H, Garber, Judith, Weitzel, Jeffrey N, Andrulis, Irene L, Goldgar, David E, D'Andrea, Emma, Caldes, Trinidad, Nevanlinna, Heli, Osorio, Ana, van Rensburg, Elizabeth J, Arason, Adalgeir, Rennert, Gad, van den Ouweland, Ans M W, van der Hout, Annemarie H, Kets, Carolien M, Aalfs, Cora M, Wijnen, Juul T, Ausems, Margreet G E M, Frost, Debra, Ellis, Steve, Fineberg, Elena, Platte, Radka, Evans, D Gareth, Jacobs, Chris, Adlard, Julian, Tischkowitz, Marc, Porteous, Mary E, Damiola, Francesca, Golmard, Lisa, Barjhoux, Laure, Longy, Michel, Belotti, Muriel, Ferrer, Sandra Fert, Mazoyer, Sylvie, Spurdle, Amanda B, Manoukian, Siranoush, Barile, Monica, Genuardi, Maurizio, Arnold, Norbert, Meindl, Alfons, Sutter, Christian, Wappenschmidt, Barbara, Domchek, Susan M, Pfeiler, Georg, Friedman, Eitan, Jensen, Uffe Birk, Robson, Mark, Shah, Sohela, Lazaro, Conxi, Mai, Phuong L, Benitez, Javier, Southey, Melissa C, Schmidt, Marjanka K, Fasching, Peter A, Peto, Julian, Humphreys, Manjeet K, Wang, Qin, Michailidou, Kyriaki, Sawyer, Elinor J, Burwinkel, Barbara, Guénel, Pascal, Bojesen, Stig E, Milne, Roger L, Brenner, Hermann, Lochmann, Magdalena, Aittomäki, Kristiina, Dörk, Thilo, Margolin, Sara

“…Common genetic variants contribute to the observed variation in breast cancer risk for BRCA2 mutation carriers; those known to date have all been found through…”
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Benchmarking of Whole Exome Sequencing and Ad Hoc Designed Panels for Genetic Testing of Hereditary Cancer by Feliubadaló, Lídia, Tonda, Raúl, Gausachs, Mireia, Trotta, Jean-Rémi, Castellanos, Elisabeth, López-Doriga, Adriana, Teulé, Àlex, Tornero, Eva, del Valle, Jesús, Gel, Bernat, Gut, Marta, Pineda, Marta, González, Sara, Menéndez, Mireia, Navarro, Matilde, Capellá, Gabriel, Gut, Ivo, Serra, Eduard, Brunet, Joan, Beltran, Sergi, Lázaro, Conxi

“…Next generation sequencing panels have been developed for hereditary cancer, although there is some debate about their cost-effectiveness compared to exome…”
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MLH1 promoter hypermethylation in the analytical algorithm of Lynch syndrome: a cost-effectiveness study by GAUSACHS, Mireia, MUR, Pilar, GRUBER, Stephen B, LAZARO, Conxi, BLANCO, Ignacio, CAPELLA, Gabriel, CORRAL, Julieta, PINEDA, Marta, GONZALEZ, Sara, BENITO, Llúcia, MENENDEZ, Mireia, ALFONS ESPINAS, Josep, BRUNET, Joan, INIESTA, María Dolores

“…The analytical algorithm of Lynch syndrome (LS) is increasingly complex. BRAF V600E mutation and MLH1 promoter hypermethylation have been proposed as a…”
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Haplotype structure in Ashkenazi Jewish BRCA1 and BRCA2 mutation carriers by Lázaro García, Conxi, Blanco Guillermo, Ignacio

“…Three founder mutations in BRCA1 and BRCA2 contribute to the risk of hereditary breast and ovarian cancer in Ashkenazi Jews (AJ). They are observed at…”
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Interplay between BRCA1 and RHAMM regulates epithelial apicobasal polarization and may influence risk of breast cancer by Maxwell, Christopher A, Benítez, Javier, Gómez-Baldó, Laia, Osorio, Ana, Bonifaci, Núria, Fernández-Ramires, Ricardo, Costes, Sylvain V, Guinó, Elisabet, Chen, Helen, Evans, Gareth J R, Mohan, Pooja, Català, Isabel, Petit, Anna, Aguilar, Helena, Villanueva, Alberto, Aytes, Alvaro, Serra-Musach, Jordi, Rennert, Gad, Lejbkowicz, Flavio, Peterlongo, Paolo, Manoukian, Siranoush, Peissel, Bernard, Ripamonti, Carla B, Bonanni, Bernardo, Viel, Alessandra, Allavena, Anna, Bernard, Loris, Radice, Paolo, Friedman, Eitan, Kaufman, Bella, Laitman, Yael, Dubrovsky, Maya, Milgrom, Roni, Jakubowska, Anna, Cybulski, Cezary, Gorski, Bohdan, Jaworska, Katarzyna, Durda, Katarzyna, Sukiennicki, Grzegorz, Lubiński, Jan, Shugart, Yin Yao, Domchek, Susan M, Letrero, Richard, Weber, Barbara L, Hogervorst, Frans B L, Rookus, Matti A, Collee, J Margriet, Devilee, Peter, Ligtenberg, Marjolijn J, Luijt, Rob B van der, Aalfs, Cora M, Waisfisz, Quinten, Wijnen, Juul, Roozendaal, Cornelis E P van, Easton, Douglas F, Peock, Susan, Cook, Margaret, Oliver, Clare, Frost, Debra, Harrington, Patricia, Evans, D Gareth, Lalloo, Fiona, Eeles, Rosalind, Izatt, Louise, Chu, Carol, Eccles, Diana, Douglas, Fiona, Brewer, Carole, Nevanlinna, Heli, Heikkinen, Tuomas, Couch, Fergus J, Lindor, Noralane M, Wang, Xianshu, Godwin, Andrew K, Caligo, Maria A, Lombardi, Grazia, Loman, Niklas, Karlsson, Per, Ehrencrona, Hans, Wachenfeldt, Anna von, Barkardottir, Rosa Bjork, Hamann, Ute, Rashid, Muhammad U, Lasa, Adriana, Caldés, Trinidad, Andrés, Raquel, Schmitt, Michael, Assmann, Volker, Stevens, Kristen, Offit, Kenneth, Curado, João, Tilgner, Hagen, Guigó, Roderic, Aiza, Gemma, Brunet, Joan, Castellsagué, Joan, Martrat, Griselda, Urruticoechea, Ander, Blanco, Ignacio, Tihomirova, Laima

“…Differentiated mammary epithelium shows apicobasal polarity, and loss of tissue organization is an early hallmark of breast carcinogenesis. In BRCA1 mutation…”
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Germline mutations in the spindle assembly checkpoint genes BUB1 and BUB3 are infrequent in familial colorectal cancer and polyposis by Mur, Pilar, De Voer, Richarda M, Olivera-Salguero, Rubén, Rodríguez-Perales, Sandra, Pons, Tirso, Setién, Fernando, Aiza, Gemma, Valdés-Mas, Rafael, Bertini, Angelo, Pineda, Marta, Vreede, Lilian, Navarro, Matilde, Iglesias, Silvia, González, Sara, Brunet, Joan, Valencia, Alfonso, Esteller, Manel, Lázaro, Conxi, Kops, Geert J P L, Urioste, Miguel, Puente, Xose S, Capellá, Gabriel, Valle, Laura

“…Germline mutations in BUB1 and BUB3 have been reported to increase the risk of developing colorectal cancer (CRC) at young age, in presence of variegated…”
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DNA glycosylases involved in base excision repair may be associated with cancer risk in BRCA1 and BRCA2 mutation carriers by Osorio, Ana, Milne, Roger L, Kuchenbaecker, Karoline, Vaclová, Tereza, Pita, Guillermo, Alonso, Rosario, Peterlongo, Paolo, Blanco, Ignacio, de la Hoya, Miguel, Duran, Mercedes, Díez, Orland, Ramón Y Cajal, Teresa, Konstantopoulou, Irene, Martínez-Bouzas, Cristina, Andrés Conejero, Raquel, Soucy, Penny, McGuffog, Lesley, Barrowdale, Daniel, Lee, Andrew, Arver, Brita, Rantala, Johanna, Loman, Niklas, Ehrencrona, Hans, Olopade, Olufunmilayo I, Beattie, Mary S, Domchek, Susan M, Nathanson, Katherine, Rebbeck, Timothy R, Arun, Banu K, Karlan, Beth Y, Walsh, Christine, Lester, Jenny, John, Esther M, Whittemore, Alice S, Daly, Mary B, Southey, Melissa, Hopper, John, Terry, Mary B, Buys, Saundra S, Janavicius, Ramunas, Dorfling, Cecilia M, van Rensburg, Elizabeth J, Steele, Linda, Neuhausen, Susan L, Ding, Yuan Chun, Hansen, Thomas V O, Jønson, Lars, Ejlertsen, Bent, Gerdes, Anne-Marie, Infante, Mar, Herráez, Belén, Moreno, Leticia Thais, Weitzel, Jeffrey N, Herzog, Josef, Weeman, Kisa, Manoukian, Siranoush, Peissel, Bernard, Zaffaroni, Daniela, Scuvera, Giulietta, Bonanni, Bernardo, Mariette, Frederique, Volorio, Sara, Viel, Alessandra, Varesco, Liliana, Papi, Laura, Ottini, Laura, Tibiletti, Maria Grazia, Radice, Paolo, Yannoukakos, Drakoulis, Garber, Judy, Ellis, Steve, Frost, Debra, Platte, Radka, Fineberg, Elena, Evans, Gareth, Lalloo, Fiona, Izatt, Louise, Eeles, Ros, Adlard, Julian, Davidson, Rosemarie, Cole, Trevor, Eccles, Diana, Cook, Jackie, Hodgson, Shirley, Brewer, Carole, Tischkowitz, Marc, Douglas, Fiona, Porteous, Mary, Side, Lucy, Walker, Lisa, Morrison, Patrick, Donaldson, Alan, Kennedy, John, Foo, Claire, Godwin, Andrew K, Schmutzler, Rita Katharina, Wappenschmidt, Barbara, Rhiem, Kerstin, Engel, Christoph, Meindl, Alfons

“…Single Nucleotide Polymorphisms (SNPs) in genes involved in the DNA Base Excision Repair (BER) pathway could be associated with cancer risk in carriers of…”
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Germline mutations in the spindle assembly checkpoint genes BUB1 and BUB3 are infrequent in familial colorectal cancer and polyposis by Mur, Pilar, de Voer, Richarda M, Olivera-Salguero, Rubén, Rodríguez-Perales, Sandra, Pons, Tirso, Setién, Fernando, Aiza, Gemma, Valdés Mas, Rafael, Bertini, Angelo, Pineda Riu, Marta, Vreede, Lilian, Navarro, Matilde, Iglesias, Silvia, González, Sara, Brunet, Joan, Valencia, Alfonso, Esteller, Manel, Lázaro García, Conxi, Kops, Geert J. P. L, Urioste, Miguel, Puente, Xose S, Capellá, G. (Gabriel), Valle, Laura

“…Germline mutations in BUB1 and BUB3 have been reported to increase the risk of developing colorectal cancer (CRC) at young age, in presence of variegated…”
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Tumor xenograft modeling identifies an association between TCF4 loss and breast cancer chemoresistance by Gorka Ruiz de Garibay, Mateo, Francesca, Stradella, Agostina, Valdés-Mas, Rafael, Palomero, Luis, Serra-Musach, Jordi, Puente, Diana A, Díaz-Navarro, Ander, Vargas-Parra, Gardenia, Tornero, Eva, Morilla, Idoia, Farré, Lourdes, Martinez-Iniesta, María, Herranz, Carmen, McCormack, Emmet, Vidal, August, Petit, Anna, Soler, Teresa, Lázaro, Conxi, Puente, Xose S, Villanueva, Alberto, Pujana, Miguel Angel

“…Understanding the mechanisms of cancer therapeutic resistance is fundamental to improving cancer care. There is clear benefit from chemotherapy in different…”
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Scarce evidence of the causal role of germline mutations in UNC5C in hereditary colorectal cancer and polyposis by Mur, Pilar, Sánchez-Cuartielles, Elena, Aussó, Susanna, Aiza, Gemma, Valdés-Mas, Rafael, Pineda, Marta, Navarro, Matilde, Brunet, Joan, Urioste, Miguel, Lázaro, Conxi, Moreno, Victor, Capellá, Gabriel, Puente, Xose S., Valle, Laura

“…Germline mutations in UNC5C have been suggested to increase colorectal cancer (CRC) risk, thus causing hereditary CRC. However, the evidence gathered thus far…”
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Telomere length and genetic anticipation in Lynch syndrome by Seguí, Nuria, Pineda, Marta, Guinó, Elisabet, Borràs, Ester, Navarro, Matilde, Bellido, Fernando, Moreno, Victor, Lázaro, Conxi, Blanco, Ignacio, Capellá, Gabriel, Valle, Laura

“…Telomere length variation has been associated with increased risk of several types of tumors, and telomere shortening, with genetic anticipation in a number of…”
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Benchmarking of Whole Exome Sequencing and Ad Hoc Designed Panels for Genetic Testing of Hereditary Cancer by Feliubadaló i Elorza, Maria Lídia, Tonda, Raúl, Gausachs, Mireia, Trotta, Jean Rémi, Castellanos, Elisabeth, López Dóriga Guerra, Adriana, Teulé-Vega, Àlex, Tornero, Eva, Valle, Jesús del, Gel, Bernat, Gut, Marta, Pineda Riu, Marta, González, Sara, Menéndez Vilà, Mireia, Navarro, Matilde, Capellá, G. (Gabriel), Gut, Ivo, Serra, Eduard, Brunet, Joan, Beltran, Sergi, Lázaro García, Conxi

“…Next generation sequencing panels have been developed for hereditary cancer, although there is some debate about their cost-effectiveness compared to exome…”
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A comprehensive custom panel design for routine hereditary cancer testing: preserving control, improving diagnostics and revealing a complex variation landscape by Castellanos, Elisabeth, Gel, Bernat, Rosas, Inma, Tornero, Eva, Santín, Sheila, Pluvinet, Raquel, Velasco, Juan, Sumoy, Lauro, Valle, Jesús del, Perucho, Manuel, Blanco Guillermo, Ignacio, Navarro, Matilde, Brunet, Joan, Pineda Riu, Marta, Feliubadaló i Elorza, Maria Lídia, Capellá, G. (Gabriel), Lázaro García, Conxi, Serra, Eduard

“…We wanted to implement an NGS strategy to globally analyze hereditary cancer with diagnostic quality while retaining the same degree of understanding and…”
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Longer telomeres are associated with cancer risk in MMR-proficient hereditary non-polyposis colorectal cancer by Seguí, Nuria, Guinó, Elisabet, Pineda, Marta, Navarro, Matilde, Bellido, Fernando, Lázaro, Conxi, Blanco, Ignacio, Moreno, Victor, Capellá, Gabriel, Valle, Laura

“…Aberrant telomere length measured in blood has been associated with increased risk of several cancer types. In the field of hereditary non-polyposis colorectal…”
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Tumor xenograft modeling identifies an association between TCF4 loss and breast cancer chemoresistance by Ruiz de Garibay, Gorka, Mateo, Francesca, Stradella, Agostina, Valdés Mas, Rafael, Palomero, Luis, Serra-Musach, Jordi, Puente, Diana A, Díaz-Navarro, Ander, Vargas Parra, Gardenía María, Tornero, Eva, Morilla, Idoia, Farré, Lourdes, Martinez-Iniesta, María, Herranz, Carmen, McCormack, Emmet, Vidal-Bel, August, Petit, Anna, Soler, María Teresa, Lázaro García, Conxi, Puente, Xose S, Villanueva Garatachea, Alberto, Pujana Genestar, M. Ángel

“…Understanding the mechanisms of cancer therapeutic resistance is fundamental to improving cancer care. There is clear benefit from chemotherapy in different…”
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