Blanco, Ana
https://orcid.org/0000-0002-2535-8311
Mayo Clinic
Centre for Biomedical Network Research on Rare Diseases
Citations 3
Transcriptome‐wide association study of breast cancer risk by estrogen‐receptor status
Feng, Helian , Gusev, Alexander , Wu, Lang , Abu-Full, Zomoroda, Aittomäki, Kristiina, Andrulis, Irene L. , Antoniou, Antonis C. , Arason, Aðalgeir , Arndt, Volker , Aronson, Kristan J. , Asseryanis, Ella, Auer, Paul L. , Azzollini, Jacopo , Barkardóttir, Rósa B. , Barrowdale, Daniel , Beckmann, Matthias W. , Bermisheva, Marina , Białkowska, Katarzyna , Bogdanova, Natalia , Bojesen, Stig E. , Bolla, Manjeet K. , Borg, Åke , Brauch, Hiltrud , Brenner, Hermann , Brüning, Thomas , Burwinkel, Barbara , Caldés, Trinidad , Canisius, Sander , Campa, Daniele , Carter, Brian D., Castelao, Jose E. , Chang‐Claude, Jenny , Christiansen, Hans , Claes, Kathleen , Collaborators, GEMO Study, Collaborators, EMBRACE, Collaborators, GC‐HBOC study, Cox, Angela , Daly, Mary B., Leeneer, Kim De , Dörk, Thilo , Dwek, Miriam , Eccles, Diana M., Ejlertsen, Bent , Engel, Christoph , Fasching, Peter A. , Flyger, Henrik, Friedman, Eitan , Frost, Debra, Gabrielson, Marike , Ganz, Patricia A. , Gapstur, Susan M. , García‐Closas, Montserrat , Gaudet, Mia M. , Glendon, Gord , Goldberg, Mark S. , Goldgar, David E., González‐Neira, Anna , Greene, Mark H. , Guénel, Pascal , Haiman, Christopher A. , Hamann, Ute, Hake, Christopher R., He, Wei , Heyworth, Jane , Hogervorst, Frans B.L., Hooning, Maartje J. , Hoover, Robert N. , Hopper, John L. , Huang, Guanmengqian, Hulick, Peter J. , Humphreys, Keith , Imyanitov, Evgeny N., Investigators, ABCTB, Investigators, HEBON, Investigators, BCFR, Investigators, OCGN, Jakimovska, Milena , Jakubowska, Anna , James, Paul A. , Janavicius, Ramunas, Jankowitz, Rachel C. , John, Esther M. , Johnson, Nichola , Jung, Audrey , Kiiski, Johanna I. , Konstantopoulou, Irene , Kristensen, Vessela N. , Laitman, Yael , Lambrechts, Diether , Leroux, Dominique, Lester, Jenny, Lesueur, Fabienne , Lindor, Noralane M. , Lindström, Sara, Lo, Wing‐Yee, Loud, Jennifer T. , Makalic, Enes , Mannermaa, Arto, Manoochehri, Mehdi, Manoukian, Siranoush , Margolin, Sara , Matricardi, Laura , Maurer, Tabea, Mavroudis, Dimitrios, McGuffog, Lesley, Meindl, Alfons , Menon, Usha , Michailidou, Kyriaki , Kapoor, Pooja M., Montagna, Marco , Moreno, Fernando , Muranen, Taru , Nathanson, Katherine L. , Nevelsteen, Ines, Ņikitina-Zaķe, Liene , Offit, Kenneth, Oláh, Edith , Olopade, Olufunmilayo I. , Olsson, Håkan , Osório, Ana , Papp, J., Park‐Simon, Tjoung‐Won , Pedersen, Inge Søkilde , Peixoto, Ana , Peterlongo, Paolo , Peto, Julian , Phillips, Kelly‐Anne , Plaseska‐Karanfilska, Dijana , Poppe, Bruce , Pradhan, Nisha , Prajzendanc, Karolina , Punie, Kevin , Pylkäs, Katri , Rantala, Johanna, Rashid, Muhammad Usman , Rennert, Gad , Romero, Atocha , Saloustros, Emmanouil , Sandler, Dale P. , Santos, Catarina , Sawyer, Elinor J. , Schmutzler, Rita K., Schoemaker, Minouk J. , Scott, Rodney J. , Simard, Jacques , Skytte, Anne‐Bine , Soucy, Penny, Spinelli, John J. , Stone, Jennifer , Tapper, William , Taylor, Jack A. , Teixeira, Manuel R. , Terry, Mary Beth , Teulé, Àlex , Thomassen, Mads , Thöne, Kathrin , Thull, Darcy L. , Tollenaar, Rob A.�E.�M. , Torres, Diana , Vachon, Celine M. , Ouweland, Ans M.W. van den, Vega, Ana , Viel, Alessandra , Vieiro‐Balo, Paula, Wang, Qin , Wappenschmidt, Barbara , Weinberg, Clarice R. , Weitzel, Jeffrey N. , Wendt, Camilla, Winqvist, Robert , Yang, Xiaohong R., Easton, Douglas F. , Chenevix‐Trench, Georgia , Durocher, Francine , Eccles, Diana , Janavičius, Ramūnas , Khaw, Kay‐Tee , Lambrechts, Diether , Lindor, Noralane, Dörk, Thilo , Lambrechts, Diether , Hulick, Peter J , James, Paul , Lesueur, Fabienne , Peterlongo, Paolo , Rennert, Gad , Sandler, Dale P , Teixeira, Manuel R , Eccles, Diana , Menon, Usha , Vega, Ana , Weitzel, Jeffrey N , Claes, Kathleen B M , Azzollini, Jacopo , John, Esther M , Konstantopoulou, Irene , Matricardi, Laura , Olopade, Olufunmilayo I , Arndt, Volker , Jakubowska, Anna , Lambrechts, Diether , Brenner, Hermann , Cox, Angela , Guénel, Pascal , Muranen, Taru A , Romero, Atocha , Saloustros, Emmanouil , Torres, Diana , García-Closas, Montserrat , Makalic, Enes , Michailidou, Kyriaki , Bogdanova, Natalia V , Taylor, Jack A , Nathanson, Katherine L , Arason, Adalgeir , Barrowdale, Daniel , Engel, Christoph , Montagna, Marco , Viel, Alessandra , Simard, Jacques , Chenevix-Trench, Georgia , Jung, Audrey Y , Gabrielson, Marike , Stone, Jennifer , Pylkäs, Katri , Rashid, Muhammad U , De Leeneer, Kim , Manoukian, Siranoush , Bojesen, Stig E , Schoemaker, Minouk J , Weinberg, Clarice R , Phillips, Kelly-Anne , Terry, Mary Beth , Brauch, Hiltrud , Plaseska-Karanfilska, Dijana , Sawyer, Elinor J , Paşaniuc, Bogdan , Long, Jirong , Anton‐Culver, Hoda , Arun, Banu , Balmañà, Judith , Barnes, Daniel R. , Behrens, Sabine , Benı́tez, Javier , Blanco, Ana , Blomqvist, Carl , Boeckx, Bram , Bonanni, Bernardo , Borg, Åke , Briceño, Ignacio , Broeks, Annegien , Cai, Qiuyin , Caligo, Maria A. , Campbell, Ian , Carter, Jonathan , Chanock, Stephen Jacob , Chung, Wendy K. , Clarke, Christine L. , Collaborators, GEMO Study, Collaborators, EMBRACE, Collaborators, GC‐HBOC study, Couch, Fergus J. , Cross, Simon S. , Cybulski, Cezary , Czene, Kamila , Hoya, Miguel de la , Dennis, Joe , Devilee, Peter , Dı́ez, Orland , Domchek, Susan M. , dos‐Santos‐Silva, Isabel , Dunning, Alison M. , Ellberg, Carolina , Eriksson, Mikael , Fletcher, Olivia , Fostira, Florentia , Fritschi, Lin , Garber, Judy E. , García-Sáenz, José Á. , Giles, Graham G. , Godwin, Andrew K. , Goldgar, David E., Gronwald, Jacek , Hall, Per N , Hollestelle, Antoinette , Investigators, ABCTB, Investigators, HEBON, Investigators, BCFR, Investigators, OCGN, Isaacs, Claudine , Vijai, Joseph , Karlan, Beth Y. , Хуснутдинова, Э. К. , Lázaro, Conxi , Leslie, Goska , Lubiński, Jan , Mannermaa, Arto, Martens, John W.M. , Martı́nez, Marı́a Elena , Meindl, Alfons , Kapoor, Pooja M., Miller, Austin , Moserle, Lidia , Mulligan, Anna Marie , Neuhausen, Susan L. , Nevanlinna, Heli , Nielsen, Finn Cilius , Parsons, Michael T. , Pharoah, Paul D.P. , Presneau, Nadège , Radice, Paolo , Risch, Harvey A. , Robson, Mark E. , Schmidt, Marjanka K. , Schmidt, Daniel F. , Sharma, Priyanka , Shu, Xiao‐Ou , Singer, Christian F. , Southey, Melissa C. , Spurdle, Amanda B. , Swerdlow, Anthony J. , Tischkowitz, Marc D. , Toland, Amanda Ewart , Truong, Thérèse , Tung, Nadine , Vachon, Celine M. , Asperen, Christi J. van , Rensburg, Elizabeth J. van , Yannoukakos, Drakoulis , Ziogas, Argyrios , Milne, Roger L. , Zheng, Wei , Kraft, Peter , Jiang, Xia
Genetic Epidemiology | March 2, 2020 | Volume: 44 | Issue: 5 | Pages: 442-468
AbstractPrevious transcriptome‐wide association studies (TWAS) have identified breast cancer risk genes by integrating data from expression quantitative loci and genome‐wide association studies (GWAS), but analyses of breast cancer subtype‐specific associations have been limited. In this study, we conducted a TWAS using gene expression data from GTEx and summary statistics from the hitherto largest GWAS meta‐analysis conducted for breast cancer overall, and by estrogen receptor subtypes (ER+ and ER−). We further compared associations with ER+ and ER− subtypes, using a case‐only TWAS approach. We also conducted multigene conditional analyses in regions with multiple TWAS associations. Two genes, STXBP4 and HIST2H2BA, were specifically associated with ER+ but not with ER– breast cancer. We further identified 30 TWAS‐significant genes associated with overall breast cancer risk, including four that were not identified in previous studies. Conditional analyses identified single independent breast‐cancer gene in three of six regions harboring multiple TWAS‐significant genes. Our study provides new information on breast cancer genetics and biology, particularly about genomic differences between ER+ and ER− breast cancer.
Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification
Parsons, Michael T. , Tudini, Emma , Hahnen, Eric, Wappenschmidt, Barbara, Feliubadaló, Lídia , Aalfs, Cora M. , Agata, Simona, Aittomäki, Kristiina, Alducci, Elisa, Alonso‐Cerezo, María Concepción , Arnold, Norbert, Auber, Bernd , Austin, Rachel , Azzollini, Jacopo , Balmañà, Judith , Bartram, Claus R., Blümcke, Britta, Bonache, Sandra , Bonanni, Bernardo, Borg, Åke , Bortesi, Beatrice, Brunet, Joan , Bruzzone, Carla, Bucksch, Karolin , Cagnoli, Giulia , Caldés, Trinidad, Caliebe, Almuth , Calvello, Mariarosaria , Capone, Gabriele Lorenzo, Caputo, Sandrine M. , Carrasco, Estela , Caux‐Moncoutier, Virginie, Cavalli, Pietro, Cini, Giulia , Clarke, Edward , Cops, Elisa J., Cortesi, Laura , Couch, Fergus J., Darder, Esther , Debatin, Irmgard, Valle, Jesús Del , Delnatte, Capucine, Derive, Nicolas , Ditsch, Nina, Domchek, Susan M., Dutrannoy, Véronique, Eccles, Diana , Ehrencrona, Hans , Enders, Ute, Evans, D. Gareth , Farra, Chantal, Faust, Ulrike , Felbor, Ute , Feroce, Irène , Fine, Miriam, Galvão, Henrique C.R. , Gambino, Gaetana , Gehrig, Andrea, Gensini, Francesca , Germani, Aldo , Giesecke, J, Gómez, Carolina, Garcia, Encarna B., González, Sara , Grau, Èlia, Grill, Sabine , Groß, Eva, Guillaud‐Bataille, Marine , Gutiérrez‐Enríquez, Sara , Haaf, Thomas, Hackmann, Karl , Hansen, Thomas van Overeem , Harris, Marion, Hauke, Jan , Heinrich, T., Hellebrand, Heide, Herold, Karen, Honisch, Ellen, Horváth, Judit , Houdayer, Claude , Hübbel, Verena, Iglesias, Sílvia, Izquierdo, Á. , James, Paul A. , Janssen, Linda A.M., Jeschke, Udo, Kaulfuß, Silke , Keupp, Katharina, Kiechle, Marion , Kölbl, Alexandra C., Krieger, Sophie , Kruse, Torben A., Kvist, Anders , Lalloo, Fiona, Larsen, Mirjam, Lattimore, Vanessa , Lautrup, Charlotte Kvist , Ledig, Susanne, Leinert, Elena , Lim, Joanna , Loeffler, Markus, López‐Fernández, Adrià , Lucci‐Cordisco, Emanuela , Maass, Nicolai, Manoukian, Siranoush, Marabelli, Monica , Matricardi, Laura , Meindl, Alfons , Michelli, Rodrigo D., Moghadasi, Setareh , Moles‐Fernández, Alejandro , Montagna, Marco , Montalban, Gemma , Monteiro, Álvaro N.A. , Montes, Eva, Mori, Luigi , Müller, Clemens R., Mundhenke, Christoph , Naldi, Nadia, Nathanson, Katherine L. , Navarro, Matilde, Nichols, Cassandra , Niederacher, Dieter , Nielsen, Henriette Roed, Ong, Kai‐Ren , Pachter, Nicholas , Palmero, Edenir Inêz , Pedersen, Inge Søkilde , Peissel, Bernard , Pfeifer, Katharina, Pineda, Marta , Pohl‐Rescigno, Esther, Quante, Anne S. , Ramser, Juliane, Reis, Rui Manuel , Révillion, Françoise, Rhiem, Kerstin, Riboli, Barbara, Ritter, Julia, Rivera, Daniela , Rofes, Paula , Rump, Andreas , Salinas, Mónica, Abajo, A.M. SÁnchez De, Schmidt, Gunnar, Schoenwiese, Ulrike, Seggewiß, Jochen, Solanes, Ares, Stiller, Mathias , Sullivan, Kelly J., Susman, Rachel , Sutter, Christian , Tavtigian, Sean V. , Teo, Soo‐Hwang , Thomassen, Mads, Tibiletti, Maria Grazia , Tognazzo, Silvia , Tornero, Eva , Törngren, Therese , Torres‐Esquius, Sara , Trainer, Alison, Tucker, Kathy , Asperen, Christi J. van, Mackelenbergh, Marion van , Varesco, Liliana, Vargas‐Parra, Gardenia , Varon, Raymonda, Vega, Ana , Velasco, Ángela, Vesper, Anne‐Sophie, Viel, Alessandra , Vreeswijk, Maaike P.G. , Wagner, Sebastian , Waha, Anke, Walker, Logan C., Walters, Rhiannon, Wang‐Gohrke, Shan , Weber, Bernhard , Weichert, Wilko , Wieland, Kerstin, Wöckel, Achim , Woodward, Emma R. , Zachariae, Silke , Zampiga, Valentina , Zeder-Göß, C, Investigators, KConFab, Lázaro, Conxi, Nicolo, Arcangela De , Radice, Paolo , Engel, Christoph , Schmutzler, Rita K., Goldgar, David E. , Manoukian, Siranoush , Gómez, E. , Houdayer, Claude , de la Hoya, Miguel , Diez, Orland , Eccles, Diana , Gutiérrez-Enríquez, Sara , Susman, Rachel , Tavtigian, Sean V , Toland, Amanda Ewart , Toss, Angela , Vega, Ana , Vreeswijk, Maaike P G , Woodward, Emma R , Radice, Paolo , Spurdle, Amanda B , James, Paul , Parsons, Michael T , Teo, Soo H , Monteiro, Alvaro N , Auber, Bernd , Azzollini, Jacopo , Brunet, Joan , Darder, Esther , Ehrencrona, Hans , Evans, D Gareth , Matricardi, Laura , Palmero, Edenir I , Nathanson, Katherine L , Pineda, Marta , Cini, Giulia , Cortesi, Laura , Del Valle, Jesús , Engel, Christoph , Izquierdo, Angel , Montagna, Marco , Rump, Andreas , Viel, Alessandra , Reis, Rui Manuel , Montalban, Gemma , Calvello, Mariarosaria , Feliubadaló, Lidia , Gómez-García, Encarna B , González, Sara , Hansen, Thomas van Overeem , Hauke, Jan , Zampiga, Valentina , De Nicolo, Arcangela , Manoukian, Siranoush , Li, Hongyan , Hahnen, Eric , Agata, Simona , Barbieri, Elena , Blanco, Ana , Bonanni, Bernardo , Bruzzone, Carla, Caligo, Maria A. , Carnevali, Ileana Wanda , Cavalli, Pietro , Concolino, Paola , Hoya, Miguel de la , Dean, Michael , Dı́ez, Orland , Farra, Chantal, Foulkes, William D. , Gerdes, Anne‐Marie , Gismondi, Viviana , Garcia, Encarna B., Guerrieri‐Gonzaga, Aliana , Guillaud-Bataille, Marine , Jeschke, Udo , Lewis, Alexandra L. , Loeffler, Markus, Meindl, Alfons , Moserle, Lidia , Navarro, Matilde, Nevanlinna, Heli , Papi, Laura , Perez-Segura, Pedro , Pohl‐Rescigno, Esther, Poplawski, Nicola Kazia , Porfirio, Berardino , Révillion, Françoise, Rhiem, Kerstin , Steinemann, Doris , Stoppa‐Lyonnet, Dominique , Sullivan, Kelly J., Teulé, Àlex , Tischkowitz, Marc D. , Asperen, Christi J. van , Varesco, Liliana , Velasco, Àngela , Weber, Bernhard H. F., Wiesmüller, Lisa , Witzel, Isabell , Investigators, kConFab, Lázaro, Conxi, Spurdle, Amanda B. , Balmaña, Judith , Austin, Rachel
Human Mutation | May 27, 2019 | Volume: 40 | Issue: 9 | Pages: 1557-1578
Comparison of mRNA Splicing Assay Protocols across Multiple Laboratories: Recommendations for Best Practice in Standardized Clinical Testing
Whiley, Phillip J , Hoya, Miguel de la , Thomassen, Mads , Becker, Alexandra, Pedersen, Inge Søkilde , Montagna, Marco , Menéndez, Mireia , Quiles, Francisco, Gutiérrez‐Enríquez, Sara , Leeneer, Kim De , Tenés, Anna, Montalban, Gemma , Tserpelis, Demis, Yoshimatsu, Toshio F. , Tirapo, Carole, Raponi, Michela , Caldés, Trinidad , Blanco, Ana , Guidugli, Lucia, Garibay, Gorka Ruíz de , Wong, Ming, Tancredi, Mariella, Fachal, Laura , Ding, Yuan Chun , Kruse, Torben A., Lattimore, Vanessa , Kwong, Ava , Chan, Tsun Leung , Colombo, Mara , Vecchi, Giovanni De, Caligo, Maria A. , Baralle, Diana , Lázaro, Conxi , Radice, Paolo , Southey, Melissa C. , Houdayer, Claude , Fackenthal, Jim, Hansen, Thomas van Overeem , Vega, Ana , Dı́ez, Orland , Blok, Rien, Claes, Kathleen , Wappenschmidt, Barbara , Walker, Logan C. , Spurdle, Amanda B. , Brown, Melissa A. , Brandão, Rita D. , Santamariña, Marta , Couch, Fergus J. , Neuhausen, Susan L. , Caligo, Maria A , Spurdle, Amanda B , Vega, Ana , de la Hoya, Miguel , Diez, Orland , Gutiérrez-Enríquez, Sara , Radice, Paolo , Claes, Kathleen B M , Southey, Melissa C , Lazaro, Conxi , Montagna, Marco , Ruiz de Garibay, Gorka , Montalban, Gemma , De Leeneer, Kim , Hansen, Thomas van Overeem , Kwong, Ava , Fachal, Laura
Clinical Chemistry | November 8, 2013 | Volume: 60 | Issue: 2 | Pages: 341-352
Abstract BACKGROUND Accurate evaluation of unclassified sequence variants in cancer predisposition genes is essential for clinical management and depends on a multifactorial analysis of clinical, genetic, pathologic, and bioinformatic variables and assays of transcript length and abundance. The integrity of assay data in turn relies on appropriate assay design, interpretation, and reporting. METHODS We conducted a multicenter investigation to compare mRNA splicing assay protocols used by members of the ENIGMA (Evidence-Based Network for the Interpretation of Germline Mutant Alleles) consortium. We compared similarities and differences in results derived from analysis of a panel of breast cancer 1, early onset (BRCA1) and breast cancer 2, early onset (BRCA2) gene variants known to alter splicing (BRCA1: c.135-1G>T, c.591C>T, c.594-2A>C, c.671-2A>G, and c.5467+5G>C and BRCA2: c.426-12_8delGTTTT, c.7988A>T, c.8632+1G>A, and c.9501+3A>T). Differences in protocols were then assessed to determine which elements were critical in reliable assay design. RESULTS PCR primer design strategies, PCR conditions, and product detection methods, combined with a prior knowledge of expected alternative transcripts, were the key factors for accurate splicing assay results. For example, because of the position of primers and PCR extension times, several isoforms associated with BRCA1, c.594-2A>C and c.671-2A>G, were not detected by many sites. Variation was most evident for the detection of low-abundance transcripts (e.g., BRCA2 c.8632+1G>A Δ19,20 and BRCA1 c.135-1G>T Δ5q and Δ3). Detection of low-abundance transcripts was sometimes addressed by using more analytically sensitive detection methods (e.g., BRCA2 c.426-12_8delGTTTT ins18bp). CONCLUSIONS We provide recommendations for best practice and raise key issues to consider when designing mRNA assays for evaluation of unclassified sequence variants.