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101. Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations

Author: Fundações de Amparo à Pesquisa (Brasil), Research Foundation - Flanders, University of Helsinki, Sigrid Juselius Foundation, Dutch Cancer Society, Netherlands Organization for Scientific Research, Asociación Española Contra el Cáncer, Generalitat de Catalunya, Ministero della Salute, Istituto Oncologico Veneto, University of Tasmania, Australian Cancer Research Foundation, Ministry of Health and Welfare (South Korea), Charles University (Czech Republic), National Research Foundation Singapore, Russian Foundation for Basic Research, Istituto Toscano Tumori, Israel Cancer Association USA, Swedish Cancer Society, Foundation for Women's Cancer, University of Pittsburgh, Cancer Australia, American Cancer Society, The Ohio State University, National Institutes of Health (US), Cancer Research UK, European Commission, Canadian Institutes of Health Research, Department of Trade and Industry (UK), Susan G. Komen Foundation, Breast Cancer Research Foundation, Genome Canada, National Cancer Institute (US), Research Council of Lithuania, Cancer Association of South Africa, Consejo Nacional de Investigaciones Científicas y Técnicas (Argentina), Instituto de Salud Carlos III, Ministerio de Economía y Competitividad (España), Ministerio de Sanidad y Política Social (España), Associazione Italiana per la Ricerca sul Cancro, Fondazione Italiana per la Ricerca sul Cancro, Ministero dell'Istruzione, dell'Università e della Ricerca, Institut Pasteur, Fondazione Cenci Bolognetti, Greek Government, Pontificia Universidad Javeriana, Royal Marsden NHS Foundation Trust, Kansas State University, Fundación Mutua Madrileña, Ligue Nationale contre le Cancer (France), Georgetown University, Rebbeck, Timothy R., Friebel, Tara M., Friedman, Eitan, Hamann, Ute, Huo, Dezheng, Kwong, Ava, Olah, Edith, Olopade, Olufunmilayo I., Solano, Angela R., Teo, Soo-Hwamg, Thomassen, Mads, Mebirouk, Noura, Meijers-Heijboer, Hanne, Meindl, Alfons, Mensenkamp, Arjen R., Kruse, Torben A., Benitez, Javier, Mickys, Ugnius, Greene, Mark H., Miller, Austin, thomas, Abigail, Cook, Jackie, Montagna, Marco, Moysich, Kirsten B., Mulligan, Anna Marie, Musinsky, Jacob, Neuhausen, Susan L., Nevanlinna, Heli, Ngeow, Joanne, Berger, Andreas, Nguyen, Huu Phuc, Palmero, Edenir Inêz, Davidson, Rosemarie, Bonadona, Valérie, Schmutzler, Rita Katharina, Niederacher, Dieter, Nielsen, Henriette Roed, Nielsen, Finn Cilius, Nussbaum, Robert L., Offit, Kenneth, Öfverholm, Anna, Ong, Kai-ren, Berger, Raanan, Hoya, Miguel de la, Osorio, Ana, Konstantopoulou, Irene, Papi, Laura, Papp, Janos, Senter, Leigha, Kyung Park, Sue, Pasini, Barbara, Pedersen, Inge Sokilde, Peixoto, Ana, Peruga, Nina, Leeneer, Kim de, Peterlongo, Paolo, Blanco, Amie M., Thull, Darcy L., Pohl, Esther, Pradhan, Nisha, Prajzendanc, Karolina, Prieur, Fabienne, Shah, Payal D., Pujol, Pascal, Torres, Diana, Pauw, Antoine de, Radice, Paolo, Sharma, Priyanka, Side, Lucy E., Tischkowitz, Marc, Blazer, Kathleen R., Simard, Jacques, Singer, Christian F., Skytte, Anne-Bine, Slavin, Thomas P., Snape, Katie, Rashid, Muhammad Usman, Gronwald, Jacek, McGuffog, Lesley, Sobol, Hagay, Southey, Melissa, Tognazzo, Silvia, Steele, Linda, Blok, Marinus J., Steinemann, Doris, Toland, Amanda Ewart, Topka, Sabine, Delnatte, Capucine, Trainer, Alison H., Tung, Nadine, Hahnen, Eric, Asperen, Christi J. van, Hout, Annemieke H. van der, Korach, Jacob, Hogervorst, Frans B. L., Leslie, Goska, Kolk, Lizet E. van der, Luijt, Rob B. van der, Weitzel, Jeffrey N., Heetvelde, Mattias van, Varesco, Liliana, Varon-Mateeva, Raymonda, Vega, Ana, Villarreal-Garza, Cynthia, Hauke, Jan, Laitman, Yael, Wachenfeldt, Anna von, Ramus, Susan J., Walker, Lisa, Díez, Orland, Wang-Gohrke, Shan, Aalfs, Cora M., Wappenschmidt, Barbara, Weber, Bernhard H. F., Yannoukakos, Drakoulis, Yoon, Sook-Yee, Zanzottera, Cristina, Lasa, Adrian, Zidan, Jamal, HEBON, Lee, Min Hyuk, Bonanni, Bernardo, Zorn, Kristin K., Selkirk, Christina G. Hutten, Hulick, Peter J., Chenevix-Trench, Georgia, Abugattas, Julio, Spurdle, Amanda B., Antoniou, Antonis C., Lasset, Christine, Nathanson, Katherine L., Sukiennicki, Grzegorz, Adlard, Julian, Agata, Simona, Bradbury, Angela R., Henderson, Alex, Aittomäki, Kristiina, Andrews, Lesley, Andrulis, Irene L., Arason, Adalgeir, Arnold, Norbert, Couch, Fergus J., Ding, Yuan Chun, Arun, Branu K., Asseryanis, Ella, Auerbach, Leo, Azzollini, Jacopo, Brewer, Carole, Balmaña, Judith, Hentschel, Julia, Barile, Monica, Buecher, Bruno, Buys, Saundra S., Ditsch, Nina, Lázaro, Conxi, Caldés, Trinidad, Caliebe, Almuth, Caligo, Maria A., Campbell, Ian, Caputo, Sandrine M., Rantala, Johanna, Honisch, Ellen, Chiquette, Jocelyne, Chung, Wendy K., Domchek, Susan M., Claes, Kathleen B., Lee, Annette T., Collée, J. Margriet, Evans, D. Gareth, Dorfling, Cecilia M., Velázquez Pérez, Carolina, Dworniczak, Bernd, Eason, Jacqueline, Rhiem, Kerstin, Easton, Douglas F., Eeles, Ros, Sutter, Christian, Schmidt, Ane Y., Imyanitov, Evgeny N., Ehrencrona, Hans, Ejlertsen, Bent, EMBRACE, Engel, Christoph, Engert, Stefanie, Faivre, Laurence, Feliubadaló, Lidia, Robson, Mark, szabo, Csilla I., Tan, Yen Y., Fert Ferrer, Sandra, Barkardottir, Rosa B., Foretova, Lenka, Fowler, Jeffrey, Isaacs, Claudine, Frost, Debra, Galvão, Henrique C. R., Ganz, Patricia A., Garber, Judy, Gauthier-Villars, Marion, Teixeira, Manuel R., Gehrig, Andrea, Rodriguez, Gustavo C., Lester, Jenny, GEMO Study Collaborators, Gerdes, Anne-Marie, Gesta, Paul, Giannini, Giuseppe, Izat, Louise, Giraud, Sophie, Glendon, Gord, Terry, Mary Beth, Godwin, Andrew K., Izquierdo, Angel, Jakubowska, Anna, Lesueur, Fabienne, Rogers, Mark T., James, Paul, Janavicius, Ramunas, Jensen, Uffe Birk, John, Esther M., Vijai, Joseph, Gutierrez-Barrera, Angelica, Chan, T. L., Kaczmarek, Katarzyna, Karlan, Beth Y., Kast, Karin, Liljegren, Annelie, KConFab Investigators, Rudaitis, Vilius, Kim, Sung-Won, Lindor, Noralane M., Longy, Michel, Teulé, Alex, Loud, Jennifer T., Lu, Karen H., Goldgar, David E., Lubinski, Jan, Machackova, Eva, Barrowdale, Daniel, Rensburg, Elizabeth J. van, Manoukian, Siranoush, Mari, Véronique, Martínez-Bouzaz, Cristina, Parsons, Michael T., Matrai, Zoltan, Fundações de Amparo à Pesquisa (Brasil), Research Foundation - Flanders, University of Helsinki, Sigrid Juselius Foundation, Dutch Cancer Society, Netherlands Organization for Scientific Research, Asociación Española Contra el Cáncer, Generalitat de Catalunya, Ministero della Salute, Istituto Oncologico Veneto, University of Tasmania, Australian Cancer Research Foundation, Ministry of Health and Welfare (South Korea), Charles University (Czech Republic), National Research Foundation Singapore, Russian Foundation for Basic Research, Istituto Toscano Tumori, Israel Cancer Association USA, Swedish Cancer Society, Foundation for Women's Cancer, University of Pittsburgh, Cancer Australia, American Cancer Society, The Ohio State University, National Institutes of Health (US), Cancer Research UK, European Commission, Canadian Institutes of Health Research, Department of Trade and Industry (UK), Susan G. Komen Foundation, Breast Cancer Research Foundation, Genome Canada, National Cancer Institute (US), Research Council of Lithuania, Cancer Association of South Africa, Consejo Nacional de Investigaciones Científicas y Técnicas (Argentina), Instituto de Salud Carlos III, Ministerio de Economía y Competitividad (España), Ministerio de Sanidad y Política Social (España), Associazione Italiana per la Ricerca sul Cancro, Fondazione Italiana per la Ricerca sul Cancro, Ministero dell'Istruzione, dell'Università e della Ricerca, Institut Pasteur, Fondazione Cenci Bolognetti, Greek Government, Pontificia Universidad Javeriana, Royal Marsden NHS Foundation Trust, Kansas State University, Fundación Mutua Madrileña, Ligue Nationale contre le Cancer (France), Georgetown University, Rebbeck, Timothy R., Friebel, Tara M., Friedman, Eitan, Hamann, Ute, Huo, Dezheng, Kwong, Ava, Olah, Edith, Olopade, Olufunmilayo I., Solano, Angela R., Teo, Soo-Hwamg, Thomassen, Mads, Mebirouk, Noura, Meijers-Heijboer, Hanne, Meindl, Alfons, Mensenkamp, Arjen R., Kruse, Torben A., Benitez, Javier, Mickys, Ugnius, Greene, Mark H., Miller, Austin, thomas, Abigail, Cook, Jackie, Montagna, Marco, Moysich, Kirsten B., Mulligan, Anna Marie, Musinsky, Jacob, Neuhausen, Susan L., Nevanlinna, Heli, Ngeow, Joanne, Berger, Andreas, Nguyen, Huu Phuc, Palmero, Edenir Inêz, Davidson, Rosemarie, Bonadona, Valérie, Schmutzler, Rita Katharina, Niederacher, Dieter, Nielsen, Henriette Roed, Nielsen, Finn Cilius, Nussbaum, Robert L., Offit, Kenneth, Öfverholm, Anna, Ong, Kai-ren, Berger, Raanan, Hoya, Miguel de la, Osorio, Ana, Konstantopoulou, Irene, Papi, Laura, Papp, Janos, Senter, Leigha, Kyung Park, Sue, Pasini, Barbara, Pedersen, Inge Sokilde, Peixoto, Ana, Peruga, Nina, Leeneer, Kim de, Peterlongo, Paolo, Blanco, Amie M., Thull, Darcy L., Pohl, Esther, Pradhan, Nisha, Prajzendanc, Karolina, Prieur, Fabienne, Shah, Payal D., Pujol, Pascal, Torres, Diana, Pauw, Antoine de, Radice, Paolo, Sharma, Priyanka, Side, Lucy E., Tischkowitz, Marc, Blazer, Kathleen R., Simard, Jacques, Singer, Christian F., Skytte, Anne-Bine, Slavin, Thomas P., Snape, Katie, Rashid, Muhammad Usman, Gronwald, Jacek, McGuffog, Lesley, Sobol, Hagay, Southey, Melissa, Tognazzo, Silvia, Steele, Linda, Blok, Marinus J., Steinemann, Doris, Toland, Amanda Ewart, Topka, Sabine, Delnatte, Capucine, Trainer, Alison H., Tung, Nadine, Hahnen, Eric, Asperen, Christi J. van, Hout, Annemieke H. van der, Korach, Jacob, Hogervorst, Frans B. L., Leslie, Goska, Kolk, Lizet E. van der, Luijt, Rob B. van der, Weitzel, Jeffrey N., Heetvelde, Mattias van, Varesco, Liliana, Varon-Mateeva, Raymonda, Vega, Ana, Villarreal-Garza, Cynthia, Hauke, Jan, Laitman, Yael, Wachenfeldt, Anna von, Ramus, Susan J., Walker, Lisa, Díez, Orland, Wang-Gohrke, Shan, Aalfs, Cora M., Wappenschmidt, Barbara, Weber, Bernhard H. F., Yannoukakos, Drakoulis, Yoon, Sook-Yee, Zanzottera, Cristina, Lasa, Adrian, Zidan, Jamal, HEBON, Lee, Min Hyuk, Bonanni, Bernardo, Zorn, Kristin K., Selkirk, Christina G. Hutten, Hulick, Peter J., Chenevix-Trench, Georgia, Abugattas, Julio, Spurdle, Amanda B., Antoniou, Antonis C., Lasset, Christine, Nathanson, Katherine L., Sukiennicki, Grzegorz, Adlard, Julian, Agata, Simona, Bradbury, Angela R., Henderson, Alex, Aittomäki, Kristiina, Andrews, Lesley, Andrulis, Irene L., Arason, Adalgeir, Arnold, Norbert, Couch, Fergus J., Ding, Yuan Chun, Arun, Branu K., Asseryanis, Ella, Auerbach, Leo, Azzollini, Jacopo, Brewer, Carole, Balmaña, Judith, Hentschel, Julia, Barile, Monica, Buecher, Bruno, Buys, Saundra S., Ditsch, Nina, Lázaro, Conxi, Caldés, Trinidad, Caliebe, Almuth, Caligo, Maria A., Campbell, Ian, Caputo, Sandrine M., Rantala, Johanna, Honisch, Ellen, Chiquette, Jocelyne, Chung, Wendy K., Domchek, Susan M., Claes, Kathleen B., Lee, Annette T., Collée, J. Margriet, Evans, D. Gareth, Dorfling, Cecilia M., Velázquez Pérez, Carolina, Dworniczak, Bernd, Eason, Jacqueline, Rhiem, Kerstin, Easton, Douglas F., Eeles, Ros, Sutter, Christian, Schmidt, Ane Y., Imyanitov, Evgeny N., Ehrencrona, Hans, Ejlertsen, Bent, EMBRACE, Engel, Christoph, Engert, Stefanie, Faivre, Laurence, Feliubadaló, Lidia, Robson, Mark, szabo, Csilla I., Tan, Yen Y., Fert Ferrer, Sandra, Barkardottir, Rosa B., Foretova, Lenka, Fowler, Jeffrey, Isaacs, Claudine, Frost, Debra, Galvão, Henrique C. R., Ganz, Patricia A., Garber, Judy, Gauthier-Villars, Marion, Teixeira, Manuel R., Gehrig, Andrea, Rodriguez, Gustavo C., Lester, Jenny, GEMO Study Collaborators, Gerdes, Anne-Marie, Gesta, Paul, Giannini, Giuseppe, Izat, Louise, Giraud, Sophie, Glendon, Gord, Terry, Mary Beth, Godwin, Andrew K., Izquierdo, Angel, Jakubowska, Anna, Lesueur, Fabienne, Rogers, Mark T., James, Paul, Janavicius, Ramunas, Jensen, Uffe Birk, John, Esther M., Vijai, Joseph, Gutierrez-Barrera, Angelica, Chan, T. L., Kaczmarek, Katarzyna, Karlan, Beth Y., Kast, Karin, Liljegren, Annelie, KConFab Investigators, Rudaitis, Vilius, Kim, Sung-Won, Lindor, Noralane M., Longy, Michel, Teulé, Alex, Loud, Jennifer T., Lu, Karen H., Goldgar, David E., Lubinski, Jan, Machackova, Eva, Barrowdale, Daniel, Rensburg, Elizabeth J. van, Manoukian, Siranoush, Mari, Véronique, Martínez-Bouzaz, Cristina, Parsons, Michael T., and Matrai, Zoltan
Abstract: The prevalence and spectrum of germline mutations in BRCA1 and BRCA2 have been reported in single populations, with the majority of reports focused on White in Europe and North America. The Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA) has assembled data on 18,435 families with BRCA1 mutations and 11,351 families with BRCA2 mutations ascertained from 69 centers in 49 countries on six continents. This study comprehensively describes the characteristics of the 1,650 unique BRCA1 and 1,731 unique BRCA2 deleterious (disease-associated) mutations identified in the CIMBA database. We observed substantial variation in mutation type and frequency by geographical region and race/ethnicity. In addition to known founder mutations, mutations of relatively high frequency were identified in specific racial/ethnic or geographic groups that may reflect founder mutations and which could be used in targeted (panel) first pass genotyping for specific populations. Knowledge of the population-specific mutational spectrum in BRCA1 and BRCA2 could inform efficient strategies for genetic testing and may justify a more broad-based oncogenetic testing in some populations.
Published: 2018

102. Association between germline mutations in BRF1, a subunit of the RNA polymerase III transcription complex, and hereditary colorectal cancer

Author: Asociación Española Contra el Cáncer, Ministerio de Economía y Competitividad (España), European Commission, Instituto de Salud Carlos III, Fundación Científica Asociación Española Contra el Cáncer, Generalitat de Catalunya, Consejo Superior de Investigaciones Científicas (España), Bellido, Fernando, Sowada, Nadine, Mur, Pilar, Lázaro, Conxi, Pons, Tirso, Valdés-Mas, Rafael, Pineda, Marta, Aiza, Gemma, Iglesias, Silvia, Soto, José Luis, Urioste, Miguel, Caldés, Trinidad, Balbín, Milagros, Blay, Pilar, Rueda, Daniel, Durán, Mercedes, Valencia, Alfonso, Moreno, Victor, Brunet, Joan, Blanco, Ignacio, Navarro, Matilde, Calin, George G., Borck, Guntram, Puente, Xose S., Capellá, Gabriel, Valle, Laura, Asociación Española Contra el Cáncer, Ministerio de Economía y Competitividad (España), European Commission, Instituto de Salud Carlos III, Fundación Científica Asociación Española Contra el Cáncer, Generalitat de Catalunya, Consejo Superior de Investigaciones Científicas (España), Bellido, Fernando, Sowada, Nadine, Mur, Pilar, Lázaro, Conxi, Pons, Tirso, Valdés-Mas, Rafael, Pineda, Marta, Aiza, Gemma, Iglesias, Silvia, Soto, José Luis, Urioste, Miguel, Caldés, Trinidad, Balbín, Milagros, Blay, Pilar, Rueda, Daniel, Durán, Mercedes, Valencia, Alfonso, Moreno, Victor, Brunet, Joan, Blanco, Ignacio, Navarro, Matilde, Calin, George G., Borck, Guntram, Puente, Xose S., Capellá, Gabriel, and Valle, Laura
Abstract: [Background & Aims] Although there is a genetic predisposition to colorectal cancer (CRC), few of the genes that affect risk have been identified. We performed whole-exome sequence analysis of individuals in a high-risk family without mutations in genes previously associated with CRC risk to identify variants associated with inherited CRC., [Methods] We collected blood samples from 3 relatives with CRC in Spain (65, 62, and 40 years old at diagnosis) and performed whole-exome sequence analyses. Rare missense, truncating or splice-site variants shared by the 3 relatives were selected. We used targeted pooled DNA amplification followed by next generation sequencing to screen for mutations in candidate genes in 547 additional hereditary and/or early-onset CRC cases (502 additional families). We carried out protein-dependent yeast growth assays and transfection studies in the HT29 human CRC cell line to test the effects of the identified variants., [Results] A total of 42 unique or rare (population minor allele frequency below 1%) nonsynonymous genetic variants in 38 genes were shared by all 3 relatives. We selected the BRF1 gene, which encodes an RNA polymerase III transcription initiation factor subunit for further analysis, based on the predicted effect of the identified variant and previous association of BRF1 with cancer. Previously unreported or rare germline variants in BRF1 were identified in 11 of 503 CRC families, a significantly greater proportion than in the control population (34 of 4300). Seven of the identified variants (1 detected in 2 families) affected BRF1 mRNA splicing, protein stability, or expression and/or function., [Conclusions] In an analysis of families with a history of CRC, we associated germline mutations in BRF1 with predisposition to CRC. We associated deleterious BRF1 variants with 1.4% of familial CRC cases, in individuals without mutations in high-penetrance genes previously associated with CRC. Our findings add additional evidence to the link between defects in genes that regulate ribosome synthesis and risk of CRC.
Published: 2018

103. Differential distribution and enrichment of non-coding RNAs in exosomes from normal and Cancer-associated fibroblasts in colorectal cancer

Author: Instituto de Salud Carlos III, Fundación Científica Asociación Española Contra el Cáncer, Ministerio de Economía y Competitividad (España), Comunidad de Madrid, European Commission, Fundación Banco Santander, Federación Española de Enfermedades Raras, Peña, Cristina [0000-0003-4406-8640], Herrera, Mercedes, Llorens, Carlos, Rodríguez, Marta, Herrera, Alberto, Ramos, Ricardo, Gil, Beatriz, Candia, Antonio, Larriba, María Jesús, Garre, Pilar, Earl, Julie, Rodríguez-Garrote, Mercedes, Caldés, Trinidad, Bonilla, Félix, Carrato, Alfredo, García, Vanesa, Peña, Cristina, Instituto de Salud Carlos III, Fundación Científica Asociación Española Contra el Cáncer, Ministerio de Economía y Competitividad (España), Comunidad de Madrid, European Commission, Fundación Banco Santander, Federación Española de Enfermedades Raras, Peña, Cristina [0000-0003-4406-8640], Herrera, Mercedes, Llorens, Carlos, Rodríguez, Marta, Herrera, Alberto, Ramos, Ricardo, Gil, Beatriz, Candia, Antonio, Larriba, María Jesús, Garre, Pilar, Earl, Julie, Rodríguez-Garrote, Mercedes, Caldés, Trinidad, Bonilla, Félix, Carrato, Alfredo, García, Vanesa, and Peña, Cristina
Abstract: Exosome production from cancer-associated fibroblasts seems to be an important driver of tumor progression. We report the first in-depth biotype characterization of ncRNAs, analyzed by Next Generation Sequencing and Bioinformatics, expressed in established primary human normal and cancer-associated fibroblasts (CAFs) from cancer and normal mucosa tissues from 9 colorectal cancer patients, and/or packaged in their derived exosomes. Differential representation and enrichment analyses based on these ncRNAs revealed a significant number of differences between the ncRNA content of exosomes and the expression patterns of the normal and cancer-associated fibroblast cells. ncRNA regulatory elements are specifically packaged in CAF-derived exosomes, supporting a specific cross-talk between CAFs and colon cancer cells and/or other stromal cells, mediated by exosomes. These sncRNAs are potential biomarkers present in cancer-associated fibroblast-derived exosomes, which should thereby contribute to developing new non-invasive diagnostic, prognostic and predictive methods for clinical applications in management of cancer patients.
Published: 2018

104. Using linkage studies combined with whole‐exome sequencing to identify novel candidate genes for familial colorectal cancer.

Author: Toma, Claudio, Díaz‐Gay, Marcos, Franch‐Expósito, Sebastià, Arnau‐Collell, Coral, Overs, Bronwyn, Muñoz, Jenifer, Bonjoch, Laia, Soares de Lima, Yasmin, Ocaña, Teresa, Cuatrecasas, Miriam, Castells, Antoni, Bujanda, Luis, Balaguer, Francesc, Cubiella, Joaquín, Caldés, Trinidad, Fullerton, Janice M., and Castellví‐Bel, Sergi
Subjects: COLORECTAL cancer, DISEASE susceptibility, EXTENDED families, GENES, HEREDITARY cancer syndromes, RANDOM sets
Abstract: Colorectal cancer (CRC) is a complex disorder for which the majority of the underlying germline predisposition factors remain still unidentified. Here, we combined whole‐exome sequencing (WES) and linkage analysis in families with multiple relatives affected by CRC to identify candidate genes harboring rare variants with potential high‐penetrance effects. Forty‐seven affected subjects from 18 extended CRC families underwent WES. Genome‐wide linkage analysis was performed under linear and exponential models. Suggestive linkage peaks were identified on chromosomes 1q22–q24.2 (maxSNP = rs2134095; LODlinear = 2.38, LODexp = 2.196), 7q31.2–q34 (maxSNP = rs6953296; LODlinear = 2.197, LODexp = 2.149) and 10q21.2–q23.1 (maxSNP = rs1904589; LODlinear = 1.445, LODexp = 2.195). These linkage signals were replicated in 10 independent sets of random markers from each of these regions. To assess the contribution of rare variants predicted to be pathogenic, we performed a family‐based segregation test with 89 rare variants predicted to be deleterious from 78 genes under the linkage intervals. This analysis showed significant segregation of rare variants with CRC in 18 genes (weighted p‐value > 0.0028). Protein network analysis and functional evaluation were used to suggest a plausible candidate gene for germline CRC predisposition. Etiologic rare variants implicated in cancer germline predisposition may be identified by combining traditional linkage with WES data. This approach can be used with already available NGS data from families with several sequenced members to further identify candidate genes involved germline predisposition to disease. This approach resulted in one candidate gene associated with increased risk of CRC but needs evidence from further studies. What's new? Inherited genetic factors are thought to account for more than one‐third of colorectal cancer (CRC) cases. Most predisposing genetic factors, however, remain unidentified. Here, genome‐wide linkage analysis using whole‐exome sequencing (WES) data was performed in families with marked CRC aggregation. The combined linkage‐sequencing approach identified possible linkage peaks on chromosomes 1q22‐q24.2, 7q31.2‐q34, and 10q21.2‐q23.1. Analyses of potentially pathogenic variants revealed significant segregation of rare variants in 18 genes, while functional analyses identified a plausible candidate gene for germline CRC predisposition. The findings underscore the utility of linkage analysis employing WES for the discovery of candidate genes for disease predisposition. [ABSTRACT FROM AUTHOR]
Published: 2020
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105. Differential distribution and enrichment of non-coding RNAs in exosomes from normal and Cancer-associated fibroblasts in colorectal cancer

Author: Herrera, Mercedes, primary, Llorens, Carlos, additional, Rodríguez, Marta, additional, Herrera, Alberto, additional, Ramos, Ricardo, additional, Gil, Beatriz, additional, Candia, Antonio, additional, Larriba, María Jesús, additional, Garre, Pilar, additional, Earl, Julie, additional, Rodríguez-Garrote, Mercedes, additional, Caldés, Trinidad, additional, Bonilla, Félix, additional, Carrato, Alfredo, additional, García-Barberán, Vanesa, additional, and Peña, Cristina, additional
Published: 2018
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106. Rare germline copy number variants in colorectal cancer predisposition characterized by exome sequencing analysis

Author: Franch-Expósito, Sebastià, primary, Esteban-Jurado, Clara, additional, Garre, Pilar, additional, Quintanilla, Isabel, additional, Duran-Sanchon, Saray, additional, Díaz-Gay, Marcos, additional, Bonjoch, Laia, additional, Cuatrecasas, Miriam, additional, Samper, Esther, additional, Muñoz, Jenifer, additional, Ocaña, Teresa, additional, Carballal, Sabela, additional, López-Cerón, María, additional, Castells, Antoni, additional, Vila-Casadesús, Maria, additional, Derdak, Sophia, additional, Laurie, Steven, additional, Beltran, Sergi, additional, Carvajal, Jaime, additional, Bujanda, Luis, additional, Ruiz-Ponte, Clara, additional, Camps, Jordi, additional, Gironella, Meritxell, additional, Lozano, Juan José, additional, Balaguer, Francesc, additional, Cubiella, Joaquín, additional, Caldés, Trinidad, additional, and Castellví-Bel, Sergi, additional
Published: 2018
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107. Association Between Germline Mutations in BRF1, a Subunit of the RNA Polymerase III Transcription Complex, and Hereditary Colorectal Cancer

Author: Bellido, Fernando, primary, Sowada, Nadine, additional, Mur, Pilar, additional, Lázaro, Conxi, additional, Pons, Tirso, additional, Valdés-Mas, Rafael, additional, Pineda, Marta, additional, Aiza, Gemma, additional, Iglesias, Silvia, additional, Soto, José Luís, additional, Urioste, Miguel, additional, Caldés, Trinidad, additional, Balbín, Milagros, additional, Blay, Pilar, additional, Rueda, Daniel, additional, Durán, Mercedes, additional, Valencia, Alfonso, additional, Moreno, Victor, additional, Brunet, Joan, additional, Blanco, Ignacio, additional, Navarro, Matilde, additional, Calin, George A., additional, Borck, Guntram, additional, Puente, Xose S., additional, Capellá, Gabriel, additional, and Valle, Laura, additional
Published: 2018
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108. Role of GALNT12 in the genetic predisposition to attenuated adenomatous polyposis syndrome

Author: Lorca, Víctor, primary, Rueda, Daniel, additional, Martín-Morales, Lorena, additional, Poves, Carmen, additional, Fernández-Aceñero, María Jesús, additional, Ruiz-Ponte, Clara, additional, Llovet, Patricia, additional, Marrupe, David, additional, García-Barberán, Vanesa, additional, García-Paredes, Beatriz, additional, Pérez-Segura, Pedro, additional, de la Hoya, Miguel, additional, Díaz-Rubio, Eduardo, additional, Caldés, Trinidad, additional, and Garre, Pilar, additional
Published: 2017
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109. Characterisation of the novel deleterious RAD51C p.Arg312Trp variant and prioritisation criteria for functional analysis of RAD51C missense changes

Author: Gayarre, Javier, primary, Martín-Gimeno, Paloma, additional, Osorio, Ana, additional, Paumard, Beatriz, additional, Barroso, Alicia, additional, Fernández, Victoria, additional, de la Hoya, Miguel, additional, Rojo, Alejandro, additional, Caldés, Trinidad, additional, Palacios, José, additional, Urioste, Miguel, additional, Benítez, Javier, additional, and García, María J, additional
Published: 2017
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110. Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1and BRCA2pathogenic variants

Author: Barnes, Daniel R., Rookus, Matti A., McGuffog, Lesley, Leslie, Goska, Mooij, Thea M., Dennis, Joe, Mavaddat, Nasim, Adlard, Julian, Ahmed, Munaza, Aittomäki, Kristiina, Andrieu, Nadine, Andrulis, Irene L., Arnold, Norbert, Arun, Banu K., Azzollini, Jacopo, Balmaña, Judith, Barkardottir, Rosa B., Barrowdale, Daniel, Benitez, Javier, Berthet, Pascaline, Białkowska, Katarzyna, Blanco, Amie M., Blok, Marinus J., Bonanni, Bernardo, Boonen, Susanne E., Borg, Åke, Bozsik, Aniko, Bradbury, Angela R., Brennan, Paul, Brewer, Carole, Brunet, Joan, Buys, Saundra S., Caldés, Trinidad, Caligo, Maria A., Campbell, Ian, Christensen, Lise Lotte, Chung, Wendy K., Claes, Kathleen B.M., Colas, Chrystelle, Berthet, Pascaline, Colas, Chrystelle, Collonge-Rame, Marie-Agnès, Delnatte, Capucine, Faivre, Laurence, Giraud, Sophie, Lasset, Christine, Mari, Véronique, Mebirouk, Noura, Mouret-Fourme, Emmanuelle, Schuster, Hélène, Stoppa-Lyonnet, Dominique, Adlard, Julian, Ahmed, Munaza, Antoniou, Antonis, Barrowdale, Daniel, Brennan, Paul, Brewer, Carole, Cook, Jackie, Davidson, Rosemarie, Easton, Douglas, Eeles, Ros, Evans, D. Gareth, Frost, Debra, Hanson, Helen, Izatt, Louise, Ong, Kai-ren, Side, Lucy, O’Shaughnessy-Kirwan, Aoife, Tischkowitz, Marc, Walker, Lisa, Collonge-Rame, Marie-Agnès, Cook, Jackie, Daly, Mary B., Davidson, Rosemarie, de la Hoya, Miguel, de Putter, Robin, Delnatte, Capucine, Devilee, Peter, Diez, Orland, Ding, Yuan Chun, Domchek, Susan M., Dorfling, Cecilia M., Dumont, Martine, Eeles, Ros, Ejlertsen, Bent, Engel, Christoph, Evans, D. Gareth, Faivre, Laurence, Foretova, Lenka, Fostira, Florentia, Friedlander, Michael, Friedman, Eitan, Frost, Debra, Ganz, Patricia A., Garber, Judy, Gehrig, Andrea, Gerdes, Anne-Marie, Gesta, Paul, Giraud, Sophie, Glendon, Gord, Godwin, Andrew K., Goldgar, David E., González-Neira, Anna, Greene, Mark H., Gschwantler-Kaulich, Daphne, Hahnen, Eric, Hamann, Ute, Hanson, Helen, Hentschel, Julia, Hogervorst, Frans B.L., Hooning, Maartje J., Horvath, Judit, Hu, Chunling, Hulick, Peter J., Imyanitov, Evgeny N., Chenevix-Trench, Georgia, Phillips, Kelly-Anne, Spurdle, Amanda, Blok, Marinus, Devilee, Peter, Hogervorst, Frans, Hooning, Maartje, Koudijs, Marco, Mensenkamp, Arjen, Meijers-Heijboer, Hanne, Rookus, Matti, Engelen, Klaartje van, Andrieu, Nadine, Noguès, Catherine, Isaacs, Claudine, Izatt, Louise, Izquierdo, Angel, Jakubowska, Anna, James, Paul A., Janavicius, Ramunas, John, Esther M., Joseph, Vijai, Karlan, Beth Y., Kast, Karin, Koudijs, Marco, Kruse, Torben A., Kwong, Ava, Laitman, Yael, Lasset, Christine, Lazaro, Conxi, Lester, Jenny, Lesueur, Fabienne, Liljegren, Annelie, Loud, Jennifer T., Lubiński, Jan, Mai, Phuong L., Manoukian, Siranoush, Mari, Véronique, Mebirouk, Noura, Meijers-Heijboer, Hanne E.J., Meindl, Alfons, Mensenkamp, Arjen R., Miller, Austin, Montagna, Marco, Mouret-Fourme, Emmanuelle, Mukherjee, Semanti, Mulligan, Anna Marie, Nathanson, Katherine L., Neuhausen, Susan L., Nevanlinna, Heli, Niederacher, Dieter, Nielsen, Finn Cilius, Nikitina-Zake, Liene, Noguès, Catherine, Olah, Edith, Olopade, Olufunmilayo I., Ong, Kai-ren, O’Shaughnessy-Kirwan, Aoife, Osorio, Ana, Ott, Claus-Eric, Papi, Laura, Park, Sue K., Parsons, Michael T., Pedersen, Inge Sokilde, Peissel, Bernard, Peixoto, Ana, Peterlongo, Paolo, Pfeiler, Georg, Phillips, Kelly-Anne, Prajzendanc, Karolina, Pujana, Miquel Angel, Radice, Paolo, Ramser, Juliane, Ramus, Susan J., Rantala, Johanna, Rennert, Gad, Risch, Harvey A., Robson, Mark, Rønlund, Karina, Salani, Ritu, Schuster, Hélène, Senter, Leigha, Shah, Payal D., Sharma, Priyanka, Side, Lucy E., Singer, Christian F., Slavin, Thomas P., Soucy, Penny, Southey, Melissa C., Spurdle, Amanda B., Steinemann, Doris, Steinsnyder, Zoe, Stoppa-Lyonnet, Dominique, Sutter, Christian, Tan, Yen Yen, Teixeira, Manuel R., Teo, Soo Hwang, Thull, Darcy L., Tischkowitz, Marc, Tognazzo, Silvia, Toland, Amanda E., Trainer, Alison H., Tung, Nadine, van Engelen, Klaartje, van Rensburg, Elizabeth J., Vega, Ana, Vierstraete, Jeroen, Wagner, Gabriel, Walker, Lisa, Wang-Gohrke, Shan, Wappenschmidt, Barbara, Weitzel, Jeffrey N., Yadav, Siddhartha, Yang, Xin, Yannoukakos, Drakoulis, Zimbalatti, Dario, Offit, Kenneth, Thomassen, Mads, Couch, Fergus J., Schmutzler, Rita K., Simard, Jacques, Easton, Douglas F., Chenevix-Trench, Georgia, and Antoniou, Antonis C.
Abstract: We assessed the associations between population-based polygenic risk scores (PRS) for breast (BC) or epithelial ovarian cancer (EOC) with cancer risks for BRCA1and BRCA2pathogenic variant carriers.
Published: 2020
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111. BRCA2 gene mutations and coagulation-associated biomarkers

Author: Acosta, Daniel, primary, Santos-Sancho, Juana María, primary, Modrego, Javier, primary, Caldés, Trinidad, primary, Hoya, Miguel de la, primary, Díaz-Rubio, Eduardo, primary, Díaz-Millán, Isabel, primary, Heras, Natalia de las, primary, Zalba, Luis Alfonso Rico, primary, Lahera, Vicente, primary, Melander, Olle, primary, Perez-Segura, Pedro, additional, Zamorano-León, José J, additional, and López Farré, Antonio, additional
Published: 2016
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112. Germline Mutations in FAN1 Cause Hereditary Colorectal Cancer by Impairing DNA Repair

Author: Seguí, Nuria, primary, Mina, Leonardo B., additional, Lázaro, Conxi, additional, Sanz-Pamplona, Rebeca, additional, Pons, Tirso, additional, Navarro, Matilde, additional, Bellido, Fernando, additional, López-Doriga, Adriana, additional, Valdés-Mas, Rafael, additional, Pineda, Marta, additional, Guinó, Elisabet, additional, Vidal, August, additional, Soto, José Luís, additional, Caldés, Trinidad, additional, Durán, Mercedes, additional, Urioste, Miguel, additional, Rueda, Daniel, additional, Brunet, Joan, additional, Balbín, Milagros, additional, Blay, Pilar, additional, Iglesias, Silvia, additional, Garré, Pilar, additional, Lastra, Enrique, additional, Sánchez-Heras, Ana Beatriz, additional, Valencia, Alfonso, additional, Moreno, Victor, additional, Pujana, Miguel Ángel, additional, Villanueva, Alberto, additional, Blanco, Ignacio, additional, Capellá, Gabriel, additional, Surrallés, Jordi, additional, Puente, Xose S., additional, and Valle, Laura, additional
Published: 2015
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113. BRCA1 Alternative splicing landscape in breast tissue samples

Author: Romero, Atocha, primary, García-García, Francisco, additional, López-Perolio, Irene, additional, Ruiz de Garibay, Gorka, additional, García-Sáenz, José A, additional, Garre, Pilar, additional, Ayllón, Patricia, additional, Benito, Esperanza, additional, Dopazo, Joaquín, additional, Díaz-Rubio, Eduardo, additional, Caldés, Trinidad, additional, and de la Hoya, Miguel, additional
Published: 2015
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114. Whole-exome sequencing identifies rare pathogenic variants in new predisposition genes for familial colorectal cancer

Author: Esteban-Jurado, Clara, primary, Vila-Casadesús, Maria, additional, Garre, Pilar, additional, Lozano, Juan José, additional, Pristoupilova, Anna, additional, Beltran, Sergi, additional, Muñoz, Jenifer, additional, Ocaña, Teresa, additional, Balaguer, Francesc, additional, López-Cerón, Maria, additional, Cuatrecasas, Miriam, additional, Franch-Expósito, Sebastià, additional, Piqué, Josep M., additional, Castells, Antoni, additional, Carracedo, Angel, additional, Ruiz-Ponte, Clara, additional, Abulí, Anna, additional, Bessa, Xavier, additional, Andreu, Montserrat, additional, Bujanda, Luis, additional, Caldés, Trinidad, additional, and Castellví-Bel, Sergi, additional
Published: 2015
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115. Common Genetic Variants and Modification of Penetrance of BRCA2-Associated Breast Cancer

Author: Segrè, Ayellet V., Rookus, Matti A., McGuffog, Lesley, GEMO Study Collaborators, Frans B. L., Guiducci, Candace, Green, Todd, Collée, J. Margriet, Blank, Stephanie V., Sinilnikova, Olga M., Stoppa-Lyonnet, Dominique, Longy, Michel, Piedmonte, Marion, Korn, Joshua M., Gaudet, Mia M., Nerenstone, Stacy, Gauthier-Villars, Marion, Mazoyer, Sylvie, Kartsonaki, Christiana, van Roozendaal, Kees E. P., Rubinstein, Wendy, Morrison, Jonathan, McGee, Kate, Van Le, Linda, Hoogerbrugge, Nicoline, Frenay, Marc, Kirchhoff, Tomas, de la Hoya, Miguel, Caldés, Trinidad, Nevanlinna, Heli, Vijai, Joseph, Sobol, Hagay, and Healey, Sue
Abstract: The considerable uncertainty regarding cancer risks associated with inherited mutations of BRCA2 is due to unknown factors. To investigate whether common genetic variants modify penetrance for BRCA2 mutation carriers, we undertook a two-staged genome-wide association study in BRCA2 mutation carriers. In stage 1 using the Affymetrix 6.0 platform, 592,163 filtered SNPs genotyped were available on 899 young (
Published: 2010
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116. DNA Glycosylases Involved in Base Excision Repair May Be Associated with Cancer Risk in BRCA1 and BRCA2 Mutation Carriers

Author: 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, Swe-Brca, 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, Ditsch, Nina, Arnold, Norbert, Plendl, Hans Jörg, Niederacher, Dieter, Sutter, Christian, Wang-Gohrke, Shan, Steinemann, Doris, Preisler-Adams, Sabine, Kast, Karin, Varon-Mateeva, Raymonda, Gehrig, Andrea, Stoppa-Lyonnet, Dominique, Sinilnikova, Olga M, Mazoyer, Sylvie, Damiola, Francesca, Poppe, Bruce, Claes, Kathleen, Piedmonte, Marion, Tucker, Kathy, Backes, Floor, Rodríguez, Gustavo, Brewster, Wendy, Wakeley, Katie, Rutherford, Thomas, Caldés, Trinidad, Nevanlinna, Heli, Aittomäki, Kristiina, Rookus, Matti A, van Os, Theo A M, van der Kolk, Lizet, de Lange, J L, Meijers-Heijboer, Hanne E J, van der Hout, A H, van Asperen, Christi J, Gómez Garcia, Encarna B, Hoogerbrugge, Nicoline, Collée, J Margriet, van Deurzen, Carolien H M, van der Luijt, Rob B, Devilee, Peter, Hebon, Olah, Edith, Lázaro, Conxi, Teulé, Alex, Menéndez, Mireia, Jakubowska, Anna, Cybulski, Cezary, Gronwald, Jacek, Lubinski, Jan, Durda, Katarzyna, Jaworska-Bieniek, Katarzyna, Johannsson, Oskar Th, Maugard, Christine, Montagna, Marco, Tognazzo, Silvia, Teixeira, Manuel R, Healey, Sue, Investigators, Kconfab, Olswold, Curtis, Guidugli, Lucia, Lindor, Noralane, Slager, Susan, Szabo, Csilla I, Vijai, Joseph, Robson, Mark, Kauff, Noah, Zhang, Liying, Rau-Murthy, Rohini, Fink-Retter, Anneliese, Singer, Christian F, Rappaport, Christine, Geschwantler Kaulich, Daphne, Pfeiler, Georg, Tea, Muy-Kheng, Berger, Andreas, Phelan, Catherine M, Greene, Mark H, Mai, Phuong L, Lejbkowicz, Flavio, Andrulis, Irene, Mulligan, Anna Marie, Glendon, Gord, Toland, Amanda Ewart, Bojesen, Anders, Pedersen, Inge Sokilde, Sunde, Lone, Thomassen, Mads, Kruse, Torben A, Jensen, Uffe Birk, Friedman, Eitan, Laitman, Yael, Shimon, Shani Paluch, Simard, Jacques, Easton, Douglas F, Offit, Kenneth, Couch, Fergus J, Chenevix-Trench, Georgia, Antoniou, Antonis C, Benitez, Javier, 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, Swe-Brca, 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, Ditsch, Nina, Arnold, Norbert, Plendl, Hans Jörg, Niederacher, Dieter, Sutter, Christian, Wang-Gohrke, Shan, Steinemann, Doris, Preisler-Adams, Sabine, Kast, Karin, Varon-Mateeva, Raymonda, Gehrig, Andrea, Stoppa-Lyonnet, Dominique, Sinilnikova, Olga M, Mazoyer, Sylvie, Damiola, Francesca, Poppe, Bruce, Claes, Kathleen, Piedmonte, Marion, Tucker, Kathy, Backes, Floor, Rodríguez, Gustavo, Brewster, Wendy, Wakeley, Katie, Rutherford, Thomas, Caldés, Trinidad, Nevanlinna, Heli, Aittomäki, Kristiina, Rookus, Matti A, van Os, Theo A M, van der Kolk, Lizet, de Lange, J L, Meijers-Heijboer, Hanne E J, van der Hout, A H, van Asperen, Christi J, Gómez Garcia, Encarna B, Hoogerbrugge, Nicoline, Collée, J Margriet, van Deurzen, Carolien H M, van der Luijt, Rob B, Devilee, Peter, Hebon, Olah, Edith, Lázaro, Conxi, Teulé, Alex, Menéndez, Mireia, Jakubowska, Anna, Cybulski, Cezary, Gronwald, Jacek, Lubinski, Jan, Durda, Katarzyna, Jaworska-Bieniek, Katarzyna, Johannsson, Oskar Th, Maugard, Christine, Montagna, Marco, Tognazzo, Silvia, Teixeira, Manuel R, Healey, Sue, Investigators, Kconfab, Olswold, Curtis, Guidugli, Lucia, Lindor, Noralane, Slager, Susan, Szabo, Csilla I, Vijai, Joseph, Robson, Mark, Kauff, Noah, Zhang, Liying, Rau-Murthy, Rohini, Fink-Retter, Anneliese, Singer, Christian F, Rappaport, Christine, Geschwantler Kaulich, Daphne, Pfeiler, Georg, Tea, Muy-Kheng, Berger, Andreas, Phelan, Catherine M, Greene, Mark H, Mai, Phuong L, Lejbkowicz, Flavio, Andrulis, Irene, Mulligan, Anna Marie, Glendon, Gord, Toland, Amanda Ewart, Bojesen, Anders, Pedersen, Inge Sokilde, Sunde, Lone, Thomassen, Mads, Kruse, Torben A, Jensen, Uffe Birk, Friedman, Eitan, Laitman, Yael, Shimon, Shani Paluch, Simard, Jacques, Easton, Douglas F, Offit, Kenneth, Couch, Fergus J, Chenevix-Trench, Georgia, Antoniou, Antonis C, and Benitez, Javier
Abstract: Single Nucleotide Polymorphisms (SNPs) in genes involved in the DNA Base Excision Repair (BER) pathway could be associated with cancer risk in carriers of mutations in the high-penetrance susceptibility genes BRCA1 and BRCA2, given the relation of synthetic lethality that exists between one of the components of the BER pathway, PARP1 (poly ADP ribose polymerase), and both BRCA1 and BRCA2. In the present study, we have performed a comprehensive analysis of 18 genes involved in BER using a tagging SNP approach in a large series of BRCA1 and BRCA2 mutation carriers. 144 SNPs were analyzed in a two stage study involving 23,463 carriers from the CIMBA consortium (the Consortium of Investigators of Modifiers of BRCA1 and BRCA2). Eleven SNPs showed evidence of association with breast and/or ovarian cancer at p<0.05 in the combined analysis. Four of the five genes for which strongest evidence of association was observed were DNA glycosylases. The strongest evidence was for rs1466785 in the NEIL2 (endonuclease VIII-like 2) gene (HR: 1.09, 95% CI (1.03-1.16), p = 2.7 × 10(-3)) for association with breast cancer risk in BRCA2 mutation carriers, and rs2304277 in the OGG1 (8-guanine DNA glycosylase) gene, with ovarian cancer risk in BRCA1 mutation carriers (HR: 1.12 95%CI: 1.03-1.21, p = 4.8 × 10(-3)). DNA glycosylases involved in the first steps of the BER pathway may be associated with cancer risk in BRCA1/2 mutation carriers and should be more comprehensively studied.
Published: 2014

117. Parity and the risk of breast and ovarian cancer in and mutation carriers

Author: Milne, Roger L., Osorio, Ana, Ramón Y Cajal, Teresa, Baiget, Montserrat, Lasa, Adriana, Diaz-Rubio, Eduardo, Hoya, Miguel, Caldés, Trinidad, Teulé, Alex, Lázaro, Conxi, Blanco, Ignacio, Balmaña, Judith, Sánchez-Ollé, Gessamí, Vega, Ana, Blanco, Ana, Chirivella, Isabel, Esteban Cardeñosa, Eva, Durán, Mercedes, Velasco, Eladio, Martínez De Dueñas, Eduardo, Tejada, María-Isabel, Miramar, María-Dolores, Calvo, María-Teresa, Guillén-Ponce, Carmen, Salazar, Raquel, San Román, Carlos, Urioste, Miguel, Benítez, Javier, Grupo de Epidemiología Genética y Molecular, Programa de Genética del Cáncer Humano, Spanish National Cancer Research Center (CNIO), Grupo de Genética Humana, Programa de Genética del Cáncer Humano, Servicio de Oncología Médica, Hospital de la Santa Creu i Sant Pau, Servicio de Genética, Hospital Clínico San Carlos, Laboratorio de Oncología Molecular, Programa de Consejo Genético en Cáncer, Instituto Catalán de Oncología-IDIBELL, L'Hospitalet, Programa de Diagnóstico Molecular de Cáncer Hereditario, Instituto Catalán de Oncología-IDIBELL, Breast Cancer Center, Medical Oncology Department, Vall d'Hebron University Hospital [Barcelona], Fundación Pública Galega de Medicina Xenómica-SERGAS & Grupo de Medicina Xenómica-USC, CIBER-ER, Hospital Clínico Universitario de Valencia, Grupo de Cáncer Hereditario de la Comunidad Valenciana, Laboratorio de Biología Molecular del Servicio de Análisis Clínico, Hospital Universitario La Fe, Grupo de Genética del Cáncer, Instituto de Biología y Genética Molecular (UVa-CSIC), Consorcio Hospitalario Provincial de Castellón, Laboratorio de Genética Molecular, Hospital de Cruces, Sección de Genética Médica, Servicio de Bioquímica Clínica, Hospital Universitario Miguel Server, Unidad de Consejo Genético en Cáncer, Hospital Universitario de Elche, Centro de Investigación del Cáncer, Universidad de Salamanca, Servicio de Genética Médica, Hospital Universitario Ramón y Cajal [Madrid], Universidad de Alcalá - University of Alcalá (UAH)-Universidad de Alcalá - University of Alcalá (UAH), and Centro de Investigación Biomédica En Red de Enfermedades Raras (CIBER-ER)
Subjects: Parity, Breast cancer, Ovarian cancer
Abstract: International audience; Environmental or lifestyle factors are likely to explain part of the heterogeneity in breast and ovarian cancer risk among and mutation carriers. We assessed parity as a risk modifier in 515 and 503 Spanish female carriers of mutations in and , respectively. Hazard ratios (HR) and their corresponding 95% confidence intervals (CI) were estimated using weighted Cox proportional hazards regression, adjusted for year of birth and study centre. The results for ever being parous and number of live-births were very similar for carriers of mutations in both genes. For all mutation carriers combined, the estimated HR associated with ever having had a live-birth was 0.74 (95% confidence interval [CI] = 0.55–1.01, = 0.06), and that associated with each live-birth was 0.87 (95%CI = 0.77–0.98, = 0.02). The latter association was observed only in women aged 40 and above (HR = 0.81, 95%CI = 0.70–0.94, = 0.004 vs. HR = 0.99, 95%CI = 0.83–1.18, = 0.9 for women under age 40), and this trend was highly consistently observed for carriers of mutations in each gene. There was no evidence of an association between breast cancer risk and age at first birth for parous or mutation carriers (-trend ≥ 0.3). The power to detect associations with ovarian cancer risk was much lower, especially for mutation carriers. Nevertheless, having a live-birth was associated with protection for mutation carriers (HR = 0.41, 95%CI = 0.18–0.94, = 0.03), and a strong and consistent protective effect of age at first birth was observed for parous carriers of mutations in both genes (HR = 0.65, 95%CI = 0.52–0.83
Published: 2009

118. Analysis of and Fanconi Anemia genes in -negative Spanish breast cancer families

Author: García, María J., Fernández, Victoria, Osorio, Ana, Barroso, Alicia, LLort, Gemma, Lázaro, Conxi, Blanco, Ignacio, Caldés, Trinidad, Hoya, Miguel, Ramón Y Cajal, Teresa, Alonso, Carmen, Tejada, María-Isabel, San Román, Carlos, Robles-Díaz, Luis, Urioste, Miguel, Benítez, Javier, Group of Human Genetics, Spanish National Cancer Research Center (CNIO), Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III [Madrid] (ISC), Genetic Counseling Unit, Prevention and Cancer Control Department, Catalan Institute of Oncology (ICO), Translational Research Laboratory, Laboratory of Molecular Oncology, San Carlos University Hospital, Service of Medical Oncology, Hospital de la Santa Creu i Sant Pau, Molecular Genetics Laboratory, Cruces Hospital, Genetics Department, Hospital Universitario Ramón y Cajal [Madrid], Universidad de Alcalá - University of Alcalá (UAH)-Universidad de Alcalá - University of Alcalá (UAH), Oncology Department, and Doce de Octubre Hospital
Subjects: tumor, Fanconi Anemia, Genotypic–phenotypic correlation, Hereditary breast cancer
Abstract: International audience; Recent reports have shown that mutations in the and Fanconi Anemia (FA) genes confer a moderate breast cancer risk. Discussion has been raised on the phenotypic characteristics of the associated families and tumors. The role of in breast cancer susceptibility has not been tested to date. Likewise mutation frequency has not been studied in Spanish population. We analyzed the complete coding sequence and splicing sites of and in 95 index cases of -negative Spanish breast cancer families. We also performed an exhaustive screening of three previously described rare but recurrent mutations in 725 additional probands. Pathogenic changes were not detected in . We found a novel truncating mutation c.1056_1057delGA (p.K353IfsX7) in one of the 95 screened patients, accounting for a mutation frequency of 1% in our series. Further comprehensive screening of the novel mutation and of previously reported rare but recurrent mutations did not reveal any carrier patient. We report the first example of LOH occurring in a -associated tumor. Our results rule out a major contribution of to hereditary breast cancer. Our data are consistent with the notion of individually rare mutations, lack of mutational hot-spots in the gene and existence of between-population disease-allele heterogeneity. We show evidence that loss of function might also conform to the inactivation model of a classic tumor-suppressor gene and present data that adds to the clinically relevant discussion about the existence of a -breast cancer phenotype.
Published: 2008

119. Evaluation of Rare Variants in the New Fanconi Anemia Gene ERCC4 (FANCQ) as Familial Breast/Ovarian Cancer Susceptibility Alleles

Author: Ministerio de Economía y Competitividad (España), Fundación Mutua Madrileña, Generalitat de Catalunya, Institución Catalana de Investigación y Estudios Avanzados, European Commission, Instituto de Salud Carlos III, Asociación Española Contra el Cáncer, Comunidad de Madrid, Osorio, Ana, Fernández, Victoria, Hoya, Miguel de la, Caldés, Trinidad, Vega, Ana, Díez, Orland, Fernández, Daniel, González-Sarmiento, Rogelio, Durán, Mercedes, Fernández-Piqueras, José, Benítez, Javier, Ministerio de Economía y Competitividad (España), Fundación Mutua Madrileña, Generalitat de Catalunya, Institución Catalana de Investigación y Estudios Avanzados, European Commission, Instituto de Salud Carlos III, Asociación Española Contra el Cáncer, Comunidad de Madrid, Osorio, Ana, Fernández, Victoria, Hoya, Miguel de la, Caldés, Trinidad, Vega, Ana, Díez, Orland, Fernández, Daniel, González-Sarmiento, Rogelio, Durán, Mercedes, Fernández-Piqueras, José, and Benítez, Javier
Abstract: Recently, it has been reported that biallelic mutations in the ERCC4 (FANCQ) gene cause Fanconi anemia (FA) subtype FA-Q. To investigate the possible role of ERCC4 in breast and ovarian cancer susceptibility, as occurs with other FA genes, we screened the 11 coding exons and exon-intron boundaries of ERCC4 in 1573 index cases from high-risk Spanish familial breast and ovarian cancer pedigrees that had been tested negative for BRCA1 and BRCA2 mutations and 854 controls. The frequency of ERCC4 mutation carriers does not differ between cases and controls, suggesting that ERCC4 is not a cancer susceptibility gene. Interestingly, the prevalence of ERCC4 mutation carriers (one in 288) is similar to that reported for FANCA, whereas there are approximately 100-fold more FA-A than FA-Q patients, indicating that most biallelic combinations of ERCC4 mutations are embryo lethal. Finally, we identified additional bone-fide FA ERCC4 mutations specifically disrupting interstrand cross-link repair. © 2013 WILEY PERIODICALS, INC.
Published: 2013

120. Shorter telomere length is associated with increased ovarian cancer risk in both familial and sporadic cases

Author: Junta de Castilla y León, Asociación Española Contra el Cáncer, Red Temática de Investigación Cooperativa en Cáncer (España), Xunta de Galicia, Fundación Mutua Madrileña, Martínez-Delgado, Beatriz, Hoya, Miguel de la, Caldés, Trinidad, Vega, Ana, Blanco, Ángela, González-Sarmiento, Rogelio, Benítez, Javier, Junta de Castilla y León, Asociación Española Contra el Cáncer, Red Temática de Investigación Cooperativa en Cáncer (España), Xunta de Galicia, Fundación Mutua Madrileña, Martínez-Delgado, Beatriz, Hoya, Miguel de la, Caldés, Trinidad, Vega, Ana, Blanco, Ángela, González-Sarmiento, Rogelio, and Benítez, Javier
Abstract: [Background]: Alterations in telomere maintenance mechanisms leading to short telomeres underlie different genetic disorders of ageing and cancer predisposition syndromes. It is known that short telomeres and subsequent genomic instability contribute to malignant transformation, and it is therefore likely that people with shorter telomeres are at higher risk for different types of cancer. Recently, the authors demonstrated that the genes BRCA1 and BRCA2 are modifiers of telomere length (TL) in familial breast cancer. The present study analysed TL in peripheral blood leucocytes of hereditary and sporadic ovarian cancer cases, as well as in female controls, to evaluate whether TL contributes to ovarian cancer risk. [Methods]: TL was measured by quantitative PCR in 178 sporadic and 168 hereditary ovarian cases (46 BRCA1, 12 BRCA2, and 110 BRCAX) and compared to TL in 267 controls. [Results]: Both sporadic and hereditary cases showed significantly shorter age adjusted TLs than controls. Unconditional logistic regression analysis revealed an association between TL and ovarian cancer risk with a significant interaction with age (p<0.001). Risk was higher in younger women and progressively decreased with age, with the highest OR observed in women under 30 years of age (OR 1.56, 95% CI 1.34 to 1.81; p=1.03×10 -18). [Conclusion]: These findings indicate that TL could be a risk factor for early onset ovarian cancer.
Published: 2012

121. Common genetic variants and modification of penetrance of BRCA2-associated breast cancer

Author: Gaudet, Mia M, Kirchhoff, Tomas, Green, Todd, Vijai, Joseph, Korn, Joshua M, Guiducci, Candace, Segrè, Ayellet V, McGee, Kate, McGuffog, Lesley, Kartsonaki, Christiana, Morrison, Jonathan, Healey, Sue, Sinilnikova, Olga M, Stoppa-Lyonnet, Dominique, Mazoyer, Sylvie, Gauthier-Villars, Marion, Sobol, Hagay, Longy, Michel, Frenay, Marc, GEMO Study Collaborators, Hogervorst, Frans B L, Rookus, Matti A, Collée, J Margriet, Hoogerbrugge, Nicoline, van Roozendaal, Kees E P, Piedmonte, Marion, Rubinstein, Wendy, Nerenstone, Stacy, Van Le, Linda, Blank, Stephanie V, Caldés, Trinidad, de la Hoya, Miguel, Nevanlinna, Heli, Aittomäki, Kristiina, Lazaro, Conxi, Blanco, Ignacio, Arason, Adalgeir, Johannsson, Oskar T, Barkardottir, Rosa B, Devilee, Peter, Olopade, Olofunmilayo I, Neuhausen, Susan L, Wang, Xianshu, Fredericksen, Zachary S, Peterlongo, Paolo, Manoukian, Siranoush, Barile, Monica, Viel, Alessandra, Overeem Hansen, Thomas V, Nielsen, Finn C, Gaudet, Mia M, Kirchhoff, Tomas, Green, Todd, Vijai, Joseph, Korn, Joshua M, Guiducci, Candace, Segrè, Ayellet V, McGee, Kate, McGuffog, Lesley, Kartsonaki, Christiana, Morrison, Jonathan, Healey, Sue, Sinilnikova, Olga M, Stoppa-Lyonnet, Dominique, Mazoyer, Sylvie, Gauthier-Villars, Marion, Sobol, Hagay, Longy, Michel, Frenay, Marc, GEMO Study Collaborators, Hogervorst, Frans B L, Rookus, Matti A, Collée, J Margriet, Hoogerbrugge, Nicoline, van Roozendaal, Kees E P, Piedmonte, Marion, Rubinstein, Wendy, Nerenstone, Stacy, Van Le, Linda, Blank, Stephanie V, Caldés, Trinidad, de la Hoya, Miguel, Nevanlinna, Heli, Aittomäki, Kristiina, Lazaro, Conxi, Blanco, Ignacio, Arason, Adalgeir, Johannsson, Oskar T, Barkardottir, Rosa B, Devilee, Peter, Olopade, Olofunmilayo I, Neuhausen, Susan L, Wang, Xianshu, Fredericksen, Zachary S, Peterlongo, Paolo, Manoukian, Siranoush, Barile, Monica, Viel, Alessandra, Overeem Hansen, Thomas V, and Nielsen, Finn C
Abstract: The considerable uncertainty regarding cancer risks associated with inherited mutations of BRCA2 is due to unknown factors. To investigate whether common genetic variants modify penetrance for BRCA2 mutation carriers, we undertook a two-staged genome-wide association study in BRCA2 mutation carriers. In stage 1 using the Affymetrix 6.0 platform, 592,163 filtered SNPs genotyped were available on 899 young (
Published: 2010

122. About 1% of the breast and ovarian Spanish families testing negative for BRCA1 and BRCA2 are carriers of RAD51D pathogenic variants

Author: Gutiérrez‐Enríquez, Sara, primary, Bonache, Sandra, additional, Ruíz de Garibay, Gorka, additional, Osorio, Ana, additional, Santamariña, Marta, additional, Ramón y Cajal, Teresa, additional, Esteban‐Cardeñosa, Eva, additional, Tenés, Anna, additional, Yanowsky, Kira, additional, Barroso, Alicia, additional, Montalban, Gemma, additional, Blanco, Ana, additional, Cornet, Mònica, additional, Gadea, Neus, additional, Infante, Mar, additional, Caldés, Trinidad, additional, Díaz‐Rubio, Eduardo, additional, Balmaña, Judith, additional, Lasa, Adriana, additional, Vega, Ana, additional, Benítez, Javier, additional, de la Hoya, Miguel, additional, and Diez, Orland, additional
Published: 2013
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123. Capillary Electrophoresis Analysis of Conventional Splicing Assays: IARC Analytical and Clinical Classification of 31BRCA2Genetic Variants

Author: de Garibay, Gorka Ruiz, primary, Acedo, Alberto, additional, García-Casado, Zaida, additional, Gutiérrez-Enríquez, Sara, additional, Tosar, Alicia, additional, Romero, Atocha, additional, Garre, Pilar, additional, Llort, Gemma, additional, Thomassen, Mads, additional, Díez, Orland, additional, Pérez-Segura, Pedro, additional, Díaz-Rubio, Eduardo, additional, Velasco, Eladio A., additional, Caldés, Trinidad, additional, and de la Hoya, Miguel, additional
Published: 2013
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124. Evaluation of Rare Variants in the New Fanconi Anemia GeneERCC4(FANCQ) as Familial Breast/Ovarian Cancer Susceptibility Alleles

Author: Osorio, Ana, primary, Bogliolo, Massimo, additional, Fernández, Victoria, additional, Barroso, Alicia, additional, de la Hoya, Miguel, additional, Caldés, Trinidad, additional, Lasa, Adriana, additional, Ramón y Cajal, Teresa, additional, Santamariña, Marta, additional, Vega, Ana, additional, Quiles, Francisco, additional, Lázaro, Conxi, additional, Díez, Orland, additional, Fernández, Daniel, additional, González-Sarmiento, Rogelio, additional, Durán, Mercedes, additional, Piqueras, José Fernández, additional, Marín, Maria, additional, Pujol, Roser, additional, Surrallés, Jordi, additional, and Benítez, Javier, additional
Published: 2013
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125. Frequency and Variability of Genomic Rearrangements on MSH2 in Spanish Lynch Syndrome Families

Author: Romero, Atocha, primary, Garre, Pilar, additional, Valentin, Olivia, additional, Sanz, Julian, additional, Pérez-Segura, Pedro, additional, Llovet, Patricia, additional, Díaz-Rubio, Eduardo, additional, de la Hoya, Miguel, additional, and Caldés, Trinidad, additional
Published: 2013
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126. Cancer risk and overall survival in mismatch repair proficient hereditary non-polyposis colorectal cancer, Lynch syndrome and sporadic colorectal cancer

Author: Garre, Pilar, primary, Martín, Lorena, additional, Bando, Inmaculada, additional, Tosar, Alicia, additional, Llovet, Patricia, additional, Sanz, Julián, additional, Romero, Atocha, additional, de la Hoya, Miguel, additional, Díaz-Rubio, Eduardo, additional, and Caldés, Trinidad, additional
Published: 2013
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127. Analysis of PALB2 Gene in BRCA1/BRCA2 Negative Spanish Hereditary Breast/Ovarian Cancer Families with Pancreatic Cancer Cases

Author: Blanco, Ana, primary, de la Hoya, Miguel, additional, Osorio, Ana, additional, Diez, Orland, additional, Miramar, María Dolores, additional, Infante, Mar, additional, Martinez-Bouzas, Cristina, additional, Torres, Asunción, additional, Lasa, Adriana, additional, Llort, Gemma, additional, Brunet, Joan, additional, Graña, Begoña, additional, Perez Segura, Pedro, additional, Garcia, María José, additional, Gutiérrez-Enríquez, Sara, additional, Carracedo, Ángel, additional, Tejada, María-Isabel, additional, Velasco, Eladio A., additional, Calvo, María-Teresa, additional, Balmaña, Judith, additional, Benitez, Javier, additional, Caldés, Trinidad, additional, and Vega, Ana, additional
Published: 2013
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128. BRCA2 gene mutations and coagulation-associated biomarkers.

Author: Perez-Segura, Pedro, José J Zamorano-León, José J, Acosta, Daniel, a Santos-Sancho, Juana Marí, Modrego, Javier, Caldés, Trinidad, de la Hoya, Miguel, Díaz-Rubio, Eduardo, Díaz-Millán, Isabel, de las Heras, Natalia, Rico Zalba, Luis Alfonso, Lahera, Vicente, Melander, Olle, and Farré, Antonio López
Published: 2016
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129. Low prevalence of SLX4 loss-of-function mutations in non-BRCA1/2 breast and/or ovarian cancer families

Author: de Garibay, Gorka Ruiz, primary, Díaz, Avellaneda, additional, Gaviña, Belén, additional, Romero, Atocha, additional, Garre, Pilar, additional, Vega, Ana, additional, Blanco, Ana, additional, Tosar, Alicia, additional, Díez, Orland, additional, Pérez-Segura, Pedro, additional, Díaz-Rubio, Eduardo, additional, Caldés, Trinidad, additional, and de la Hoya, Miguel, additional
Published: 2012
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130. Abstract LB-441: Mutation in SLX4 gen in a multiple case breast cancer family

Author: de Garibay Ponce, Gorka Ruiz, primary, Díaz, María Avellaneda, additional, Gaviña, Belén, additional, Perez-Segura, Pedro, additional, Díaz-Rubio, Eduardo, additional, Caldés, Trinidad, additional, and de la Hoya, Miguel, additional
Published: 2012
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131. Detection of a large rearrangement in PALB2 in Spanish breast cancer families with male breast cancer

Author: Blanco, Ana, primary, de la Hoya, Miguel, additional, Balmaña, Judith, additional, Ramón y Cajal, Teresa, additional, Teulé, Alex, additional, Miramar, María-Dolores, additional, Esteban, Eva, additional, Infante, Mar, additional, Benítez, Javier, additional, Torres, Asunción, additional, Tejada, María-Isabel, additional, Brunet, Joan, additional, Graña, Begoña, additional, Balbín, Milagros, additional, Pérez-Segura, Pedro, additional, Osorio, Ana, additional, Velasco, Eladio A., additional, Chirivella, Isabel, additional, Calvo, María-Teresa, additional, Feliubadaló, Lidia, additional, Lasa, Adriana, additional, Díez, Orland, additional, Carracedo, Angel, additional, Caldés, Trinidad, additional, and Vega, Ana, additional
Published: 2011
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132. Analysis of the Oxidative Damage Repair Genes NUDT1, OGG1, and MUTYH in Patients from Mismatch Repair Proficient HNPCC Families (MSS-HNPCC)

Author: Garre, Pilar, primary, Briceño, Verónica, additional, Xicola, Rosa M., additional, Doyle, Brian J., additional, de la Hoya, Miguel, additional, Sanz, Julián, additional, Llovet, Patricia, additional, Pescador, Paula, additional, Puente, Javier, additional, Díaz-Rubio, Eduardo, additional, Llor, Xavier, additional, and Caldés, Trinidad, additional
Published: 2011
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133. Correction: Common Genetic Variants and Modification of Penetrance of BRCA2-Associated Breast Cancer

Author: Gaudet, Mia M., primary, Kirchhoff, Tomas, additional, Green, Todd, additional, Vijai, Joseph, additional, Korn, Joshua M., additional, Guiducci, Candace, additional, Segrè, Ayellet V., additional, McGee, Kate, additional, McGuffog, Lesley, additional, Kartsonaki, Christiana, additional, Morrison, Jonathan, additional, Healey, Sue, additional, Sinilnikova, Olga M., additional, Stoppa-Lyonnet, Dominique, additional, Mazoyer, Sylvie, additional, Gauthier-Villars, Marion, additional, Sobol, Hagay, additional, Longy, Michel, additional, Frenay, Marc, additional, GEMO Study Collaborators, Frans B. L., additional, Rookus, Matti A., additional, Collée, J. Margriet, additional, Hoogerbrugge, Nicoline, additional, van Roozendaal, Kees E. P., additional, Piedmonte, Marion, additional, Rubinstein, Wendy, additional, Nerenstone, Stacy, additional, Van Le, Linda, additional, Blank, Stephanie V., additional, Caldés, Trinidad, additional, de la Hoya, Miguel, additional, Nevanlinna, Heli, additional, Aittomäki, Kristiina, additional, Lazaro, Conxi, additional, Blanco, Ignacio, additional, Arason, Adalgeir, additional, Johannsson, Oskar T., additional, Barkardottir, Rosa B., additional, Devilee, Peter, additional, Olopade, Olofunmilayo I., additional, Neuhausen, Susan L., additional, Wang, Xianshu, additional, Fredericksen, Zachary S., additional, Peterlongo, Paolo, additional, Manoukian, Siranoush, additional, Barile, Monica, additional, Viel, Alessandra, additional, Radice, Paolo, additional, Phelan, Catherine M., additional, Narod, Steven, additional, Rennert, Gad, additional, Lejbkowicz, Flavio, additional, Flugelman, Anath, additional, Andrulis, Irene L., additional, Glendon, Gord, additional, Ozcelik, Hilmi, additional, Toland, Amanda E., additional, Montagna, Marco, additional, D'Andrea, Emma, additional, Friedman, Eitan, additional, Laitman, Yael, additional, Borg, Ake, additional, Beattie, Mary, additional, Ramus, Susan J., additional, Domchek, Susan M., additional, Nathanson, Katherine L., additional, Rebbeck, Tim, additional, Spurdle, Amanda B., additional, Chen, Xiaoqing, additional, Holland, Helene, additional, John, Esther M., additional, Hopper, John L., additional, Buys, Saundra S., additional, Daly, Mary B., additional, Southey, Melissa C., additional, Terry, Mary Beth, additional, Tung, Nadine, additional, Overeem Hansen, Thomas V., additional, Nielsen, Finn C., additional, Greene, Mark H., additional, Mai, Phuong L., additional, Osorio, Ana, additional, Durán, Mercedes, additional, Andres, Raquel, additional, Benítez, Javier, additional, Weitzel, Jeffrey N., additional, Garber, Judy, additional, Hamann, Ute, additional, Peock, Susan, additional, Cook, Margaret, additional, Oliver, Clare, additional, Frost, Debra, additional, Platte, Radka, additional, Evans, D. Gareth, additional, Lalloo, Fiona, additional, Eeles, Ros, additional, Izatt, Louise, additional, Walker, Lisa, additional, Eason, Jacqueline, additional, Barwell, Julian, additional, Godwin, Andrew K., additional, Schmutzler, Rita K., additional, Wappenschmidt, Barbara, additional, Engert, Stefanie, additional, Arnold, Norbert, additional, Gadzicki, Dorothea, additional, Dean, Michael, additional, Gold, Bert, additional, Klein, Robert J., additional, Couch, Fergus J., additional, Chenevix-Trench, Georgia, additional, Easton, Douglas F., additional, Daly, Mark J., additional, Antoniou, Antonis C., additional, Altshuler, David M., additional, and Offit, Kenneth, additional
Published: 2010
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134. MLH1 Founder Mutations with Moderate Penetrance in Spanish Lynch Syndrome Families

Author: Borràs, Ester, primary, Pineda, Marta, additional, Blanco, Ignacio, additional, Jewett, Ethan M., additional, Wang, Fei, additional, Teulé, Àlex, additional, Caldés, Trinidad, additional, Urioste, Miguel, additional, Martínez-Bouzas, Cristina, additional, Brunet, Joan, additional, Balmaña, Judith, additional, Torres, Asunción, additional, Ramón y Cajal, Teresa, additional, Sanz, Judit, additional, Pérez-Cabornero, Lucía, additional, Castellví-Bel, Sergi, additional, Alonso, Ángel, additional, Lanas, Ángel, additional, González, Sara, additional, Moreno, Víctor, additional, Gruber, Stephen B., additional, Rosenberg, Noah A., additional, Mukherjee, Bhramar, additional, Lázaro, Conxi, additional, and Capellá, Gabriel, additional
Published: 2010
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135. Reassessing the TARBP2 mutation rate in hereditary nonpolyposis colorectal cancer

Author: Garre, Pilar, primary, Pérez-Segura, Pedro, additional, Díaz-Rubio, Eduardo, additional, Caldés, Trinidad, additional, and de la Hoya, Miguel, additional
Published: 2010
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136. International distribution and age estimation of the Portuguese BRCA2 c.156_157insAlu founder mutation

Author: Peixoto, Ana, primary, Santos, Catarina, additional, Pinheiro, Manuela, additional, Pinto, Pedro, additional, Soares, Maria José, additional, Rocha, Patrícia, additional, Gusmão, Leonor, additional, Amorim, António, additional, van der Hout, Annemarie, additional, Gerdes, Anne-Marie, additional, Thomassen, Mads, additional, Kruse, Torben A., additional, Cruger, Dorthe, additional, Sunde, Lone, additional, Bignon, Yves-Jean, additional, Uhrhammer, Nancy, additional, Cornil, Lucie, additional, Rouleau, Etienne, additional, Lidereau, Rosette, additional, Yannoukakos, Drakoulis, additional, Pertesi, Maroulio, additional, Narod, Steven, additional, Royer, Robert, additional, Costa, Maurício M., additional, Lazaro, Conxi, additional, Feliubadaló, Lidia, additional, Graña, Begoña, additional, Blanco, Ignacio, additional, de la Hoya, Miguel, additional, Caldés, Trinidad, additional, Maillet, Philippe, additional, Benais-Pont, Gaelle, additional, Pardo, Bruno, additional, Laitman, Yael, additional, Friedman, Eitan, additional, Velasco, Eladio A., additional, Durán, Mercedes, additional, Miramar, Maria-Dolores, additional, Valle, Ana Rodriguez, additional, Calvo, María-Teresa, additional, Vega, Ana, additional, Blanco, Ana, additional, Diez, Orland, additional, Gutiérrez-Enríquez, Sara, additional, Balmaña, Judith, additional, Ramon y Cajal, Teresa, additional, Alonso, Carmen, additional, Baiget, Montserrat, additional, Foulkes, William, additional, Tischkowitz, Marc, additional, Kyle, Rachel, additional, Sabbaghian, Nelly, additional, Ashton-Prolla, Patricia, additional, Ewald, Ingrid P., additional, Rajkumar, Thangarajan, additional, Mota-Vieira, Luisa, additional, Giannini, Giuseppe, additional, Gulino, Alberto, additional, Achatz, Maria I., additional, Carraro, Dirce M., additional, de Paillerets, Brigitte Bressac, additional, Remenieras, Audrey, additional, Benson, Cindy, additional, Casadei, Silvia, additional, King, Mary-Claire, additional, Teugels, Erik, additional, and Teixeira, Manuel R., additional
Published: 2010
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137. Alternative Splicing and Molecular Characterization of Splice Site Variants: BRCA1 c.591C>T as a Case Study

Author: Dosil, Vanesa, primary, Tosar, Alicia, primary, Cañadas, Carmen, primary, Pérez-Segura, Pedro, primary, Díaz-Rubio, Eduardo, primary, Caldés, Trinidad, primary, and de la Hoya, Miguel, primary
Published: 2010
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138. Parity and the risk of breast and ovarian cancer in BRCA1 and BRCA2 mutation carriers

Author: Milne, Roger L., primary, Osorio, Ana, additional, Ramón y Cajal, Teresa, additional, Baiget, Montserrat, additional, Lasa, Adriana, additional, Diaz-Rubio, Eduardo, additional, de la Hoya, Miguel, additional, Caldés, Trinidad, additional, Teulé, Alex, additional, Lázaro, Conxi, additional, Blanco, Ignacio, additional, Balmaña, Judith, additional, Sánchez-Ollé, Gessamí, additional, Vega, Ana, additional, Blanco, Ana, additional, Chirivella, Isabel, additional, Esteban Cardeñosa, Eva, additional, Durán, Mercedes, additional, Velasco, Eladio, additional, Martínez de Dueñas, Eduardo, additional, Tejada, María-Isabel, additional, Miramar, María-Dolores, additional, Calvo, María-Teresa, additional, Guillén-Ponce, Carmen, additional, Salazar, Raquel, additional, San Román, Carlos, additional, Urioste, Miguel, additional, and Benítez, Javier, additional
Published: 2009
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139. Genome-wide Linkage Scan Reveals Three Putative Breast-Cancer-Susceptibility Loci

Author: Rosa-Rosa, Juan Manuel, primary, Pita, Guillermo, additional, Urioste, Miguel, additional, Llort, Gemma, additional, Brunet, Joan, additional, Lázaro, Conxi, additional, Blanco, Ignacio, additional, Ramón y Cajal, Teresa, additional, Díez, Orland, additional, de la Hoya, Miguel, additional, Caldés, Trinidad, additional, Tejada, Maria-Isabel, additional, González-Neira, Anna, additional, and Benítez, Javier, additional
Published: 2009
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140. The Average Cumulative Risks of Breast and Ovarian Cancer for Carriers of Mutations in BRCA1 and BRCA2 Attending Genetic Counseling Units in Spain

Author: Milne, Roger L., primary, Osorio, Ana, additional, Cajal, Teresa Ramón y, additional, Vega, Ana, additional, Llort, Gemma, additional, de la Hoya, Miguel, additional, Díez, Orland, additional, Alonso, M. Carmen, additional, Lazaro, Conxi, additional, Blanco, Ignacio, additional, Sánchez-de-Abajo, Ana, additional, Caldés, Trinidad, additional, Blanco, Ana, additional, Graña, Begoña, additional, Durán, Mercedes, additional, Velasco, Eladio, additional, Chirivella, Isabel, additional, Cardeñosa, Eva Esteban, additional, Tejada, María-Isabel, additional, Beristain, Elena, additional, Miramar, María-Dolores, additional, Calvo, María-Teresa, additional, Martínez, Eduardo, additional, Guillén, Carmen, additional, Salazar, Raquel, additional, San Román, Carlos, additional, Antoniou, Antonis C., additional, Urioste, Miguel, additional, and Benítez, Javier, additional
Published: 2008
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141. Analysis of FANCB and FANCN/PALB2 Fanconi Anemia genes in BRCA1/2-negative Spanish breast cancer families

Author: García, María J., primary, Fernández, Victoria, additional, Osorio, Ana, additional, Barroso, Alicia, additional, LLort, Gemma, additional, Lázaro, Conxi, additional, Blanco, Ignacio, additional, Caldés, Trinidad, additional, de la Hoya, Miguel, additional, Ramón y Cajal, Teresa, additional, Alonso, Carmen, additional, Tejada, María-Isabel, additional, San Román, Carlos, additional, Robles-Díaz, Luis, additional, Urioste, Miguel, additional, and Benítez, Javier, additional
Published: 2008
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142. Overexpression of SPARC protein contrasts with its transcriptional silencing by aberrant hypermethylation of SPARC CpG-rich region in endometrial carcinoma

Author: Rodríguez-Jiménez, Francisco-Javier, primary, Caldés, Trinidad, additional, Iniesta, Pilar, additional, Vidart, Jose, additional, Garcia-Asenjo, José, additional, and Benito, Manuel, additional
Published: 2007
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143. Screening for large rearrangements of the BRCA2 gene in Spanish families with breast/ovarian cancer

Author: Gutiérrez-Enríquez, Sara, primary, de La Hoya, Miguel, additional, Martínez-Bouzas, Cristina, additional, de Abajo, Ana Sanchez, additional, Cajal, Teresa Ramón y, additional, Llort, Gemma, additional, Blanco, Ignacio, additional, Beristain, Elena, additional, Díaz-Rubio, Eduardo, additional, Alonso, Carmen, additional, Tejada, María-Isabel, additional, Caldés, Trinidad, additional, and Diez, Orland, additional
Published: 2006
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144. Immunohistochemistry and microsatellite instability testing for selecting MLH1, MSH2 and MSH6 mutation carriers in hereditary non-polyposis colorectal cancer

Author: Caldés, Trinidad, primary, Godino, Javier, additional, Sanchez, Ana, additional, Corbacho, Cesar, additional, De la Hoya, Miguel, additional, Lopez Asenjo, Jose, additional, Saez, Carmen, additional, Sanz, Julian, additional, Benito, Manuel, additional, Ramon Y Cajal, Santiago, additional, and Diaz-Rubio, Eduardo, additional
Published: 2004
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145. Mutant BRCA1 alleles transmission: Different approaches and different biases

Author: de la Hoya, Miguel, primary, Meijers‐Heijboer, Hanne, additional, Fernández, Juan Manuel, additional, Díez, Orland, additional, Osorio, Ana, additional, Alonso, Carmen, additional, van Leeuwen, Inge, additional, Díaz‐Rubio, Eduardo, additional, Cornelisse, Cees, additional, Benítez, Javier, additional, Devilee, Peter, additional, and Caldés, Trinidad, additional
Published: 2004
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146. The variant E233G of theRAD51Dgene could be a low-penetrance allele in high-risk breast cancer families withoutBRCA1/2mutations

Author: Rodríguez-López, Raquel, primary, Osorio, Ana, additional, Ribas, Gloria, additional, Pollán, Marina, additional, Sánchez-Pulido, Luis, additional, de la Hoya, Miguel, additional, Ruibal, Álvaro, additional, Zamora, Pilar, additional, Arias, Jose Ignacio, additional, Salazar, Raquel, additional, Vega, Ana, additional, Martínez, Jose Ignacio, additional, Esteban-Cardeñosa, Eva, additional, Alonso, Carmen, additional, Letón, Rocío, additional, Urioste Azcorra, Miguel, additional, Miner, Cristina, additional, Armengod, M. Eugenia, additional, Carracedo, Angel, additional, González-Sarmiento, Rogelio, additional, Caldés, Trinidad, additional, Díez, Orland, additional, and Benítez, Javier, additional
Published: 2004
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147. The breast cancer low-penetrance allele 1100delC in the CHEK2 gene is not present in Spanish familial breast cancer population

Author: Osorio, Ana, primary, Rodríguez-López, Raquel, additional, Díez, Orland, additional, de la Hoya, Miguel, additional, Ignacio Martínez, José, additional, Vega, Ana, additional, Esteban-Cardeñosa, Eva, additional, Alonso, Carmen, additional, Caldés, Trinidad, additional, and Benítez, Javier, additional
Published: 2003
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148. Analysis ofBRCA1andBRCA2genes in Spanish breast/ovarian cancer patients: A high proportion of mutations unique to Spain and evidence of founder effects

Author: Díez, Orland, primary, Osorio, Ana, additional, Durán, Mercedes, additional, Martinez-Ferrandis, José Ignacio, additional, Hoya, Miguel de la, additional, Salazar, Raquel, additional, Vega, Ana, additional, Campos, Berta, additional, Rodríguez-López, Raquel, additional, Velasco, Eladio, additional, Chaves, Javier, additional, Díaz-Rubio, Eduardo, additional, Jesús Cruz, Juan, additional, Torres, María, additional, Esteban, Eva, additional, Cervantes, Andrés, additional, Alonso, Carmen, additional, San Román, Juan Manuel, additional, González-Sarmiento, Rogelio, additional, Miner, Cristina, additional, Carracedo, Angel, additional, Eugenia Armengod, María, additional, Caldés, Trinidad, additional, Benítez, Javier, additional, and Baiget, Montserrat, additional
Published: 2003
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149. Over-representation of two specific haplotypes among chromosomes harbouring BRCA1 mutations

Author: Osorio, Ana, primary, de la Hoya, Miguel, additional, Rodríguez-López, Raquel, additional, Granizo, Juan José, additional, Díez, Orland, additional, Vega, Ana, additional, Durán, Mercedes, additional, Carracedo, Angel, additional, Baiget, Montserrat, additional, Caldés, Trinidad, additional, and Benítez, Javier, additional
Published: 2003
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150. No mutations in theXRCC2gene inBRCA1/2-negative high-risk breast cancer families

Author: Rodríguez-López, Raquel, primary, Osorio, Ana, additional, Sánchez-Pulido, Luis, additional, de la Hoya, Miguel, additional, Barroso, Alicia, additional, Caldés, Trinidad, additional, and Benítez, Javier, additional
Published: 2002
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