Association between 25-OH-vitamin D and C-reactive protein as a marker of inflammation and cardiovascular risk in clinical practice

Autor: Clara Pérez-Barrios, Elena Hernández-Álvarez, E. Donoso-Navarro, Ramona A. Silvestre, Belén Pérez-Sacristán, F. Granado-Lorencio, Inmaculada Blanco-Navarro

Publikováno v: Annals of Clinical Biochemistry: International Journal of Laboratory Medicine. 56:502-507

Background C-reactive protein is an acute phase response marker and, in an epidemiological context, a predictor of cardiovascular risk. 25-Hydroxy-vitamin D is the best indicator for vitamin D status, but it can be altered by the presence of acute ph

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1ac873495344fa09429210cfc4766029
https://doi.org/10.1177/0004563219851539

CtDNA from body fluids is an adequate source for EGFR biomarker testing in advanced lung adenocarcinoma

Autor: Estela Sánchez-Herrero, Mariola Blanco Clemente, Natalia Garcia-Simón, Miguel Barquín, Mariano Provencio, Atocha Romero, Clara Pérez-Barrios

Objectives: Epidermal growth factor receptor (EGFR) biomarker testing using blood-based liquid biopsies remains challenging due to the low concentration of circulating tumor DNA (ctDNA) in certain plasma samples. The aim of this study is to evaluate

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::98ea84212a0d4355102049f32d84d524
https://doi.org/10.1515/cclm-2020-1465

Peritoneal washing is an adequate source for somatic BRCA1/2 mutation testing in ovarian malignancies

Autor: Eva Tejerina González, Marta Colmena, Constanza Maximiano, Maria Torrente, Mariano Provencio, Lourdes Gutiérrez, Atocha Romero, Miguel Barquín, Estela Sánchez-Herrero, Clara Pérez-Barrios, Manuel García-Espantaleón, Antonio Carlos Sánchez Ruiz, María Soriano

Publikováno v: Pathology - Research and Practice. 215:392-394

Genetic screening for BRCA mutations should be offered to all women diagnosed with epithelial ovarian, fallopian tube, and/or peritoneal cancers given the implications for treatment options and cancer risk assessments. Yet, while germline breast canc

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c7c681da28bb3cfc3dd463199ac82909
https://doi.org/10.1016/j.prp.2018.10.028

Genome-wide association study of germline variants and breast cancer-specific mortality

Autor: Wing-Yee Lo, Dhanya Ramachandran, Christos Petridis, Fernando Salvador Moreno, Tongguang Cheng, Bernardo Bonanni, Ann Smeets, Susan E. Hankinson, Caroline Seynaeve, Suet-Feung Chin, Vessela N. Kristensen, Christopher G. Scott, Javier Benitez, William T. Newman, Brigitte Rack, Marjanka K. Schmidt, Diether Lambrechts, Alfons Meindl, Maria Escala-Garcia, Hoda Anton-Culver, Veli-Matti Kosma, Nadege Presneau, Daniel F. Schmidt, Douglas F. Easton, Ans M.W. van den Ouweland, Emmanouil Saloustros, Antoinette Hollestelle, Darya Prokofieva, Elinor J. Sawyer, Louise A. Brinton, Manuela Gago-Dominguez, Minouk J. Schoemaker, Robert N. Hoover, Fergus J. Couch, Ute Hamann, Eva Galle, Catriona McLean, Georgia Chenevix-Trench, Tjoung-Won Park-Simon, Per Hall, Jaana M. Hartikainen, Leslie Bernstein, Jose Ignacio Arias Perez, Flavio Lejbkowicz, Qi Guo, Brian D. Carter, Martha S. Linet, Fredrick R. Schumacher, Yan Zhang, Mikael Eriksson, Hiltrud Brauch, Janet A. Dunn, Gord Glendon, Bernd Holleczek, William J. Tapper, Marike Gabrielson, Keith Humphreys, Rodney J. Scott, Tabea Kühl, Lorraine Durcan, David J. Hunter, Pascal Guénel, Tom Maishman, Mary B. Daly, Rami Nassir, Andreas Schneeweiss, Kamila Czene, Jonine D. Figueroa, Grethe I. Grenaker Alnæs, Julia A. Knight, Angel Carracedo, Susan M. Gapstur, Manuel R. Teixeira, Guanmengqian Huang, Paul L. Auer, Sara Y. Brucker, Johanna I. Kiiski, Adam R. Brentnall, Simon S. Cross, Joe Dennis, Nicola Miller, Walter C. Willett, Melissa C. Southey, Christoph Engel, Niclas Håkansson, Diana Eccles, John L. Hopper, Elaine F. Harkness, Audrey Y. Jung, Trinidad Caldés, Steven N. Hart, Sara Lindström, Michael P. Lux, Julie Lecarpentier, Lian Li, Robert Winqvist, Peter Kraft, Stephen J. Chanock, Thilo Dörk, Melanie Maierthaler, Rudolf Kaaks, Angela Cox, Maartje J. Hooning, José A. García-Sáenz, Christi J. van Asperen, Mervi Grip, Enes Makalic, Mia M. Gaudet, David E. Goldgar, Ross L. Prentice, Carolina Ellberg, Sune F. Nielsen, Federico Canzian, Rebecca Roylance, Aline Talhouk, Vassilios Georgoulias, Eunjung Lee, Siranoush Manoukian, Sara Margolin, Paul D.P. Pharoah, Hedy S. Rennert, Mitul Shah, Matthias W. Beckmann, Anthony Howell, Anne Lise Børresen-Dale, Christopher A. Haiman, V. Shane Pankratz, Anna González-Neira, Kathrin Thöne, Ian Tomlinson, Thérèse Truong, Anna Marie Mulligan, Ute Krüger, Mehdi Manoochehri, Arja Jukkola-Vuorinen, Loic Le Marchand, Katri Pylkäs, Peter Hillemanns, Dieter Flesch-Janys, Volker Arndt, Peter A. Fasching, Christine L. Clarke, Louise Hiller, Eric Hahnen, Jan Lubinski, Jose E. Castelao, Roger L. Milne, Linetta B. Koppert, Peter Devilee, Rob A. E. M. Tollenaar, Ian W. Brock, Claire Mulot, Mila Pinchev, Carlos Caldas, Michael Untch, Gadi Rennert, Aaron D. Norman, Per Broberg, Anthony J. Swerdlow, Lothar Haeberle, Heli Nevanlinna, Arto Mannermaa, Irene L. Andrulis, Angela George, Montserrat Garcia-Closas, Jolanta Lissowska, Jonathan Beesley, Paolo Peterlongo, Cari M. Kitahara, Rulla M. Tamimi, Annika Lindblom, Sabine Behrens, Nick Orr, David G. Cox, D. Gareth Evans, Jacques Simard, Diana Torres, Constance Turman, Celine M. Vachon, Qin Wang, Hans-Ulrich Ulmer, Maria Kabisch, Maria Elena Martinez, Paolo Radice, Maria Tengström, Dimitrios Mavroudis, Jean Abraham, Helena M. Earl, Alice S. Whittemore, Hermann Brenner, Rita K. Schmutzler, Børge G. Nordestgaard, Barbara Burwinkel, Michael Jones, Esther M. John, Patricia Harrington, Daniele Campa, Elke M. van Veen, Clara Pérez-Barrios, Susan L. Neuhausen, Marina Bermisheva, Alicja Wolk, Christof Sohn, Elza Khusnutdinova, Michael J. Kerin, Miriam Dwek, Sibylle Loibl, Manjeet K. Bolla, Carl Blomqvist, Sander Canisius, Graham G. Giles, A. Heather Eliassen, Valerie Rhenius, Alexander Hein, Emilie Cordina-Duverger, Arif B. Ekici, Yon-Dschun Ko, Pooja Middha, Alison M. Dunning, Katarzyna Kaczmarek, Bram Boeckx, Mary Beth Terry, Jenny Chang-Claude, Karoliona Prajzendanc, Renske Keeman, Camilla Wendt, Atocha Romero, Stig E. Bojesen, Robert J. MacInnis, Clare Turnbull, Lukas Schwentner, Xiaohong R. Yang, Henrik Flyger, Håkan Olsson, Wolfgang Janni, Sofia Khan

Publikováno v: British Journal of Cancer, 120(6), 647-657. NATURE PUBLISHING GROUP
Tomlinson, I 2019, ' Genome-wide association study of germline variants and breast cancer-specific mortality ', British Journal of Cancer, vol. 120, pp. 647–657 . https://doi.org/10.1038/s41416-019-0393-x
NBCS Collaborators 2019, ' Genome-wide association study of germline variants and breast cancer-specific mortality ', British Journal of Cancer, vol. 120, no. 6, pp. 647-657 . https://doi.org/10.1038/s41416-019-0393-x
British Journal of Cancer, 120(6), 647-657. Nature Publishing Group
Escala-garcia, M, Guo, Q, Dörk, T, Canisius, S, Keeman, R, Dennis, J, Beesley, J, Lecarpentier, J, Bolla, M K, Wang, Q, Abraham, J, Andrulis, I L, Anton-culver, H, Arndt, V, Auer, P L, Beckmann, M W, Behrens, S, Benitez, J, Bermisheva, M, Bernstein, L, Blomqvist, C, Boeckx, B, Bojesen, S E, Bonanni, B, Børresen-dale, A, Brauch, H, Brenner, H, Brentnall, A, Brinton, L, Broberg, P, Brock, I W, Brucker, S Y, Burwinkel, B, Caldas, C, Caldés, T, Campa, D, Canzian, F, Carracedo, A, Carter, B D, Castelao, J E, Chang-claude, J, Chanock, S J, Chenevix-trench, G, Cheng, T D, Chin, S, Clarke, C L, Cordina-duverger, E, Couch, F J, Cox, D G, Cox, A, Cross, S S, Czene, K, Daly, M B, Devilee, P, Dunn, J A, Dunning, A M, Durcan, L, Dwek, M, Earl, H M, Ekici, A B, Eliassen, A H, Ellberg, C, Engel, C, Eriksson, M, Evans, D G, Figueroa, J, Flesch-janys, D, Flyger, H, Gabrielson, M, Gago-dominguez, M, Galle, E, Gapstur, S M, García-closas, M, García-sáenz, J A, Gaudet, M M, George, A, Georgoulias, V, Giles, G G, Glendon, G, Goldgar, D E, González-neira, A, Alnæs, G I G, Grip, M, Guénel, P, Haeberle, L, Hahnen, E, Haiman, C A, Håkansson, N, Hall, P, Hamann, U, Hankinson, S, Harkness, E F, Harrington, P A, Hart, S N, Hartikainen, J M, Hein, A, Hillemanns, P, Hiller, L, Holleczek, B, Hollestelle, A, Hooning, M J, Hoover, R N, Hopper, J L, Howell, A, Huang, G, Humphreys, K, Hunter, D J, Janni, W, John, E M, Jones, M E, Jukkola-vuorinen, A, Jung, A, Kaaks, R, Kabisch, M, Kaczmarek, K, Kerin, M J, Khan, S, Khusnutdinova, E, Kiiski, J I, Kitahara, C M, Knight, J A, Ko, Y, Koppert, L B, Kosma, V, Kraft, P, Kristensen, V N, Krüger, U, Kühl, T, Lambrechts, D, Le Marchand, L, Lee, E, Lejbkowicz, F, Li, L, Lindblom, A, Lindström, S, Linet, M, Lissowska, J, Lo, W, Loibl, S, Lubiński, J, Lux, M P, Macinnis, R J, Maierthaler, M, Maishman, T, Makalic, E, Mannermaa, A, Manoochehri, M, Manoukian, S, Margolin, S, Martinez, M E, Mavroudis, D, Mclean, C, Meindl, A, Middha, P, Miller, N, Milne, R L, Moreno, F, Mulligan, A M, Mulot, C, Nassir, R, Neuhausen, S L, Newman, W T, Nielsen, S F, Nordestgaard, B G, Norman, A, Olsson, H, Orr, N, Pankratz, V S, Park-simon, T, Perez, J I A, Pérez-barrios, C, Peterlongo, P, Petridis, C, Pinchev, M, Prajzendanc, K, Prentice, R, Presneau, N, Prokofieva, D, Pylkäs, K, Rack, B, Radice, P, Ramachandran, D, Rennert, G, Rennert, H S, Rhenius, V, Romero, A, Roylance, R, Saloustros, E, Sawyer, E J, Schmidt, D F, Schmutzler, R K, Schneeweiss, A, Schoemaker, M J, Schumacher, F, Schwentner, L, Scott, R J, Scott, C, Seynaeve, C, Shah, M, Simard, J, Smeets, A, Sohn, C, Southey, M C, Swerdlow, A J, Talhouk, A, Tamimi, R M, Tapper, W J, Teixeira, M R, Tengström, M, Terry, M B, Thöne, K, Tollenaar, R A E M, Tomlinson, I, Torres, D, Truong, T, Turman, C, Turnbull, C, Ulmer, H, Untch, M, Vachon, C, Van Asperen, C J, Van Den Ouweland, A M W, Van Veen, E M, Wendt, C, Whittemore, A S, Willett, W, Winqvist, R, Wolk, A, Yang, X R, Zhang, Y, Easton, D F, Fasching, P A, Nevanlinna, H, Eccles, D M, Pharoah, P D P & Schmidt, M K 2019, ' Genome-wide association study of germline variants and breast cancer-specific mortality ', British Journal of Cancer . https://doi.org/10.1038/s41416-019-0393-x
British Journal of Cancer

Background: We examined the associations between germline variants and breast cancer mortality using a large meta-analysis of women of European ancestry. Methods: Meta-analyses included summary estimates based on Cox models of twelve datasets using ~

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7225d9aa761cfb00e07fff7c20e85756
http://hdl.handle.net/1887/121887

Comparison of variant calling algorithms in NGS analysis

Autor: M. Auglytė, M. Provencio, A.C. Sanchez Ruiz, Miguel Barquín, Alessandra Romero, Lucía Gutiérrez, Enric Sánchez, J. Maynou, Argimiro Rodríguez, S. Sanz, Clara Pérez-Barrios, N. Ortiz

Publikováno v: Clinica Chimica Acta. 493:S113-S114

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::4de70af2c7ea0c35cf6bc1794d9e83e0
https://doi.org/10.1016/j.cca.2019.03.240