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1,112 results on '"González-Neira, A"'

151. Supplementary Materials & Methods from DNMT1 Inhibition Reprograms Pancreatic Cancer Stem Cells via Upregulation of the miR-17-92 Cluster

Author

Bruno Sainz, Christopher Heeschen, Alexandra Aicher, Mario Fernandez Fraga, Anna González-Neira, Matthieu Schoenhals, Tony Bou Kheir, Gustavo Fernandez Bayon, Sonia Alcala, and Sladjana Zagorac

Abstract

Supplementary Materials & Methods: Additional methods and materials not detailed in the main manuscript. Includes, details of the Illumina methylation array, differential methylation, genomic region and CGI analyses, as well as additional methods and details regarding antagomiRs, treatments, cell viability and apoptosis assays, cell cycle analysis, WB and RTqPCR, 5mC quantification, CRISPR/Cas9, and immunofluorescence and immunohistochemistry.

Published
2023

153. Data from Inflammatory-Related Genetic Variants in Non–Muscle-Invasive Bladder Cancer Prognosis: A Multimarker Bayesian Assessment

Author

Núria Malats, Francisco X. Real, Stephen J. Chanock, Yves Allory, Manolis Kogevinas, Nathaniel Rothman, Debra Silverman, Montserrat Garcia-Closas, Josep Lloreta, Adonina Tardon, Alfredo Carrato, Mirari Márquez, Anna González-Neira, Marta Rava, Antoni Picornell, Michael E. Goddard, Evangelina López de Maturana, and Alexandra Masson-Lecomte

Abstract

Background: Increasing evidence points to the role of tumor immunologic environment on urothelial bladder cancer prognosis. This effect might be partly dependent on the host genetic context. We evaluated the association of SNPs in inflammation-related genes with non–muscle-invasive bladder cancer (NMIBC) risk-of-recurrence and risk-of-progression.Methods: We considered 822 NMIBC included in the SBC/EPICURO Study followed-up >10 years. We selected 1,679 SNPs belonging to 251 inflammatory genes. The association of SNPs with risk-of-recurrence and risk-of-progression was assessed using Cox regression single-marker (SMM) and multimarker methods (MMM) Bayes A and Bayesian LASSO. Discriminative abilities of the models were calculated using the c index and validated with bootstrap cross-validation procedures.Results: While no SNP was found to be associated with risk-of-recurrence using SMM, three SNPs in TNIP1, CD5, and JAK3 showed very strong association with posterior probabilities >90% using MMM. Regarding risk-of-progression, one SNP in CD3G was significantly associated using SMM (HR, 2.69; P = 1.55 × 10−5) and two SNPs in MASP1 and AIRE, showed a posterior probability ≥80% with MMM. Validated discriminative abilities of the models without and with the SNPs were 58.4% versus 60.5% and 72.1% versus 72.8% for risk-of-recurrence and risk-of-progression, respectively.Conclusions: Using innovative analytic approaches, we demonstrated that SNPs in inflammatory-related genes were associated with NMIBC prognosis and that they improve the discriminative ability of prognostic clinical models for NMIBC.Impact: This study provides proof of concept for the joint effect of genetic variants in improving the discriminative ability of clinical prognostic models. The approach may be extended to other diseases. Cancer Epidemiol Biomarkers Prev; 25(7); 1144–50. ©2016 AACR.

Published
2023

154. Supplementary figures from DNMT1 Inhibition Reprograms Pancreatic Cancer Stem Cells via Upregulation of the miR-17-92 Cluster

Author

Bruno Sainz, Christopher Heeschen, Alexandra Aicher, Mario Fernandez Fraga, Anna González-Neira, Matthieu Schoenhals, Tony Bou Kheir, Gustavo Fernandez Bayon, Sonia Alcala, and Sladjana Zagorac

Abstract

Supplementary figures and tables: Supplementary Figure S1. Autofluoresecnce as a biomarker for the isolation of pancreatic cancer stem cells. Results related to Figure 1. Supplementary Figure S2. PDAC CSCs over-express DNMT1 and bear higher 5mC levels. Results related to Figure 1 and Figure 2. Supplementary Figure S3. The DNMT1 inhibitor Zebularine decreases CSC phenotypes. Related to Figure 3. Supplementary Figure S4. The DNMT1 inhibitor Decitabine decreases CSC phenotypes. Related to Figure 3. Supplementary Figure S5. DNMT1 inhibitor Zebularine promotes CSC differentiation. Related to Figure 5. Supplementary Figure S6. DNMT1 inhibition modulates expression of miR-203, miR-205, and the miR-17-92 cluster. Related to Figure 6. Table S1. Table showing decreased DNA methylation for miRs following Zebularine treatment, represented as fold changes. Table S2. Table showing decreased DNA methylation of genes upon Zebularine treatment, represented as fold changes. Table S3. Table showing decreased DNA methylation of genes upon Zebularine treatment, represented as fold changes.

Published
2023

155. Data from DNMT1 Inhibition Reprograms Pancreatic Cancer Stem Cells via Upregulation of the miR-17-92 Cluster

Author

Bruno Sainz, Christopher Heeschen, Alexandra Aicher, Mario Fernandez Fraga, Anna González-Neira, Matthieu Schoenhals, Tony Bou Kheir, Gustavo Fernandez Bayon, Sonia Alcala, and Sladjana Zagorac

Abstract

Pancreatic ductal adenocarcinoma (PDAC) and other carcinomas are hierarchically organized, with cancer stem cells (CSC) residing at the top of the hierarchy, where they drive tumor progression, metastasis, and chemoresistance. As CSC and non-CSC share an identical genetic background, we hypothesize that differences in epigenetics account for the striking functional differences between these two cell populations. Epigenetic mechanisms, such as DNA methylation, play an important role in maintaining pluripotency and regulating the differentiation of stem cells, but the role of DNA methylation in pancreatic CSC is obscure. In this study, we investigated the genome-wide DNA methylation profile of PDAC CSC, and we determined the importance of DNA methyltransferases for CSC maintenance and tumorigenicity. Using high-throughput methylation analysis, we discovered that sorted CSCs have a higher level of DNA methylation, regardless of the heterogeneity or polyclonality of the CSC populations present in the tumors analyzed. Mechanistically, CSC expressed higher DNMT1 levels than non-CSC. Pharmacologic or genetic targeting of DNMT1 in CSCs reduced their self-renewal and in vivo tumorigenic potential, defining DNMT1 as a candidate CSC therapeutic target. The inhibitory effect we observed was mediated in part through epigenetic reactivation of previously silenced miRNAs, in particular the miR-17-92 cluster. Together, our findings indicate that DNA methylation plays an important role in CSC biology and also provide a rationale to develop epigenetic modulators to target CSC plasticity and improve the poor outcome of PDAC patients. Cancer Res; 76(15); 4546–58. ©2016 AACR.

Published
2023

156. Supplementary Information and Tables 1-5 from Association Study of 69 Genes in the Ret Pathway Identifies Low-penetrance Loci in Sporadic Medullary Thyroid Carcinoma

Author

Mercedes Robledo, Bruce A. Ponder, Joaquín Dopazo, Pilar Santisteban, Javier Benítez, Anna González-Neira, Miguel Urioste, Ángel Carracedo, José Ángel Díaz-Pérez, Cristina Álvarez-Escolá, Guiomar Pérez de Nanclares, Salud Borrego, Iñigo Landa, Fátima Mercadillo, Alberto Cascón, Rocío Letón, Arancha Cebrián, Christian M. Moya, Roger L. Milne, Cristina Montero-Conde, and Sergio Ruiz-Llorente

Abstract

Supplementary Information and Tables 1-5 from Association Study of 69 Genes in the Ret Pathway Identifies Low-penetrance Loci in Sporadic Medullary Thyroid Carcinoma

Published
2023

158. Morfología de conductos radiculares en incisivos mandibulares permanentes mediante tomografía computarizada de haz cónico en una subpoblación cuencana

Author

Cintya Camila González Neira, JOSÉ LUIS ÁLVAREZ VÁSQUEZ, and Daniela Duran

Abstract

Objetivo: Evaluar la morfología de conductos radiculares en incisivos mandibulares permanentes usando tomografía computarizada de haz cónico (CBCT). Materiales y métodos: Se analizaron 187 archivos de CBCT de pacientes cuencanos, valorando un total de 748 imágenes tomográficas. Las CBCT fueron obtenidas usando un tomógrafo Morita 3D Accuitomo 170 (J. Morita Inc., Kyoto, Japan) con tamaño de vóxel de 0.330 mm; parámetros de exposición de 90 kV, 6 mA; campo de visión de 170 x 170; grosor de corte de 0.66mm. La configuración de los conductos radiculares fue analizada de acuerdo a la clasificación de Vertucci. La influencia del género en la distribución de conductos y la simetría de bilateralidad fueron analizados estadísticamente; el nivel de significancia fue p

Published
2022

160. La televisión más allá de la televisión: YouTube y los canales autonómicos.

Author

González-Neira, Ana and Fiaño Salinas, Carlota

Subjects
TELEVISION viewers, SMARTPHONES, TELEVISION, ACQUISITION of data, BROADCASTERS, BROADCASTING industry, DIGITAL video
Abstract

Copyright of Doxa Comunicación is the property of Fundacion Universitaria San Pablo - CEU and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Published
2023
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162. Functional mechanisms underlying pleiotropic risk alleles at the 19p13.1 breast–ovarian cancer susceptibility locus

Author

Kate Lawrenson, Siddhartha Kar, Karen McCue, Karoline Kuchenbaeker, Kyriaki Michailidou, Jonathan Tyrer, Jonathan Beesley, Susan J. Ramus, Qiyuan Li, Melissa K. Delgado, Janet M. Lee, Kristiina Aittomäki, Irene L. Andrulis, Hoda Anton-Culver, Volker Arndt, Banu K. Arun, Brita Arver, Elisa V. Bandera, Monica Barile, Rosa B. Barkardottir, Daniel Barrowdale, Matthias W. Beckmann, Javier Benitez, Andrew Berchuck, Maria Bisogna, Line Bjorge, Carl Blomqvist, William Blot, Natalia Bogdanova, Anders Bojesen, Stig E. Bojesen, Manjeet K. Bolla, Bernardo Bonanni, Anne-Lise Børresen-Dale, Hiltrud Brauch, Paul Brennan, Hermann Brenner, Fiona Bruinsma, Joan Brunet, Shaik Ahmad Buhari, Barbara Burwinkel, Ralf Butzow, Saundra S. Buys, Qiuyin Cai, Trinidad Caldes, Ian Campbell, Rikki Canniotto, Jenny Chang-Claude, Jocelyne Chiquette, Ji-Yeob Choi, Kathleen B. M. Claes, GEMO Study Collaborators, Linda S. Cook, Angela Cox, Daniel W. Cramer, Simon S. Cross, Cezary Cybulski, Kamila Czene, Mary B. Daly, Francesca Damiola, Agnieszka Dansonka-Mieszkowska, Hatef Darabi, Joe Dennis, Peter Devilee, Orland Diez, Jennifer A. Doherty, Susan M. Domchek, Cecilia M. Dorfling, Thilo Dörk, Martine Dumont, Hans Ehrencrona, Bent Ejlertsen, Steve Ellis, EMBRACE, Christoph Engel, Eunjung Lee, D. Gareth Evans, Peter A. Fasching, Lidia Feliubadalo, Jonine Figueroa, Dieter Flesch-Janys, Olivia Fletcher, Henrik Flyger, Lenka Foretova, Florentia Fostira, William D. Foulkes, Brooke L. Fridley, Eitan Friedman, Debra Frost, Gaetana Gambino, Patricia A. Ganz, Judy Garber, Montserrat García-Closas, Aleksandra Gentry-Maharaj, Maya Ghoussaini, Graham G. Giles, Rosalind Glasspool, Andrew K. Godwin, Mark S. Goldberg, David E. Goldgar, Anna González-Neira, Ellen L. Goode, Marc T. Goodman, Mark H. Greene, Jacek Gronwald, Pascal Guénel, Christopher A. Haiman, Per Hall, Emily Hallberg, Ute Hamann, Thomas V. O. Hansen, Patricia A. Harrington, Mikael Hartman, Norhashimah Hassan, Sue Healey, The Hereditary Breast and Ovarian Cancer Research Group Netherlands (HEBON), Florian Heitz, Josef Herzog, Estrid Høgdall, Claus K. Høgdall, Frans B. L. Hogervorst, Antoinette Hollestelle, John L. Hopper, Peter J. Hulick, Tomasz Huzarski, Evgeny N. Imyanitov, KConFab Investigators, Australian Ovarian Cancer Study Group, Claudine Isaacs, Hidemi Ito, Anna Jakubowska, Ramunas Janavicius, Allan Jensen, Esther M. John, Nichola Johnson, Maria Kabisch, Daehee Kang, Miroslav Kapuscinski, Beth Y. Karlan, Sofia Khan, Lambertus A. Kiemeney, Susanne Kruger Kjaer, Julia A. Knight, Irene Konstantopoulou, Veli-Matti Kosma, Vessela Kristensen, Jolanta Kupryjanczyk, Ava Kwong, Miguel de la Hoya, Yael Laitman, Diether Lambrechts, Nhu Le, Kim De Leeneer, Jenny Lester, Douglas A. Levine, Jingmei Li, Annika Lindblom, Jirong Long, Artitaya Lophatananon, Jennifer T. Loud, Karen Lu, Jan Lubinski, Arto Mannermaa, Siranoush Manoukian, Loic Le Marchand, Sara Margolin, Frederik Marme, Leon F. A. G. Massuger, Keitaro Matsuo, Sylvie Mazoyer, Lesley McGuffog, Catriona McLean, Iain McNeish, Alfons Meindl, Usha Menon, Arjen R. Mensenkamp, Roger L. Milne, Marco Montagna, Kirsten B. Moysich, Kenneth Muir, Anna Marie Mulligan, Katherine L. Nathanson, Roberta B. Ness, Susan L. Neuhausen, Heli Nevanlinna, Silje Nord, Robert L. Nussbaum, Kunle Odunsi, Kenneth Offit, Edith Olah, Olufunmilayo I. Olopade, Janet E. Olson, Curtis Olswold, David O’Malley, Irene Orlow, Nick Orr, Ana Osorio, Sue Kyung Park, Celeste L. Pearce, Tanja Pejovic, Paolo Peterlongo, Georg Pfeiler, Catherine M. Phelan, Elizabeth M. Poole, Katri Pylkäs, Paolo Radice, Johanna Rantala, Muhammad Usman Rashid, Gad Rennert, Valerie Rhenius, Kerstin Rhiem, Harvey A. Risch, Gus Rodriguez, Mary Anne Rossing, Anja Rudolph, Helga B. Salvesen, Suleeporn Sangrajrang, Elinor J. Sawyer, Joellen M. Schildkraut, Marjanka K. Schmidt, Rita K. Schmutzler, Thomas A. Sellers, Caroline Seynaeve, Mitul Shah, Chen-Yang Shen, Xiao-Ou Shu, Weiva Sieh, Christian F. Singer, Olga M. Sinilnikova, Susan Slager, Honglin Song, Penny Soucy, Melissa C. Southey, Marie Stenmark-Askmalm, Dominique Stoppa-Lyonnet, Christian Sutter, Anthony Swerdlow, Sandrine Tchatchou, Manuel R. Teixeira, Soo H. Teo, Kathryn L. Terry, Mary Beth Terry, Mads Thomassen, Maria Grazia Tibiletti, Laima Tihomirova, Silvia Tognazzo, Amanda Ewart Toland, Ian Tomlinson, Diana Torres, Thérèse Truong, Chiu-chen Tseng, Nadine Tung, Shelley S. Tworoger, Celine Vachon, Ans M. W. van den Ouweland, Helena C. van Doorn, Elizabeth J. van Rensburg, Laura J. Van't Veer, Adriaan Vanderstichele, Ignace Vergote, Joseph Vijai, Qin Wang, Shan Wang-Gohrke, Jeffrey N. Weitzel, Nicolas Wentzensen, Alice S. Whittemore, Hans Wildiers, Robert Winqvist, Anna H. Wu, Drakoulis Yannoukakos, Sook-Yee Yoon, Jyh-Cherng Yu, Wei Zheng, Ying Zheng, Kum Kum Khanna, Jacques Simard, Alvaro N. Monteiro, Juliet D. French, Fergus J. Couch, Matthew L. Freedman, Douglas F. Easton, Alison M. Dunning, Paul D. Pharoah, Stacey L. Edwards, Georgia Chenevix-Trench, Antonis C. Antoniou, and Simon A. Gayther

Subjects
Science
Abstract

A region on chromosome 19p13 is associated with the risk of developing ovarian and breast cancer. Here, the authors genotyped SNPs in this region in thousands of breast and ovarian cancer patients and identified SNPs associated with three genes, which were analysed with functional studies.

Published
2016
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163. A GRASP-based approach to the multi activity combined timetabling and crew scheduling problem considering a heterogeneous workforce

Author

Diego Novoa, Camilo Olarte, David Barrera, and Eliana María González-Neira

Subjects
Workforce Scheduling, Multi-activity Combined Timetabling and Crew Scheduling Problem (MCTCSP), Heterogeneous workforce, Categorical Skills, GRASP, Industrial engineering. Management engineering, T55.4-60.8, Production management. Operations management, TS155-194
Abstract

This paper tackles an extension to the Multi-activity Combined Timetabling and Crew Scheduling Problem (MCTCSP). The goal of the original problem is to schedule the minimum number of homogenous workers required, in order to visit a set of customers characterized by services needed against schedule availability. However, since in home services it is common to have specialized workers, a mathematical model considering a heterogeneous workforce is proposed. As a solution, a GRASP-based algorithm is designed. In order to test the metaheuristic performance, 110 instances from the literature are adapted to include categorical skills. In addition, another 10 instances are randomly generated to consider large problems. The results show that the proposed GRASP finds optimal solutions in 46% of the cases and saves 40–96% computational time.

Published
2016
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164. Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer

Author

Fergus J. Couch, Karoline B. Kuchenbaecker, Kyriaki Michailidou, Gustavo A. Mendoza-Fandino, Silje Nord, Janna Lilyquist, Curtis Olswold, Emily Hallberg, Simona Agata, Habibul Ahsan, Kristiina Aittomäki, Christine Ambrosone, Irene L. Andrulis, Hoda Anton-Culver, Volker Arndt, Banu K. Arun, Brita Arver, Monica Barile, Rosa B. Barkardottir, Daniel Barrowdale, Lars Beckmann, Matthias W. Beckmann, Javier Benitez, Stephanie V. Blank, Carl Blomqvist, Natalia V. Bogdanova, Stig E. Bojesen, Manjeet K. Bolla, Bernardo Bonanni, Hiltrud Brauch, Hermann Brenner, Barbara Burwinkel, Saundra S. Buys, Trinidad Caldes, Maria A. Caligo, Federico Canzian, Jane Carpenter, Jenny Chang-Claude, Stephen J. Chanock, Wendy K. Chung, Kathleen B. M. Claes, Angela Cox, Simon S. Cross, Julie M. Cunningham, Kamila Czene, Mary B. Daly, Francesca Damiola, Hatef Darabi, Miguel de la Hoya, Peter Devilee, Orland Diez, Yuan C. Ding, Riccardo Dolcetti, Susan M. Domchek, Cecilia M. Dorfling, Isabel dos-Santos-Silva, Martine Dumont, Alison M. Dunning, Diana M. Eccles, Hans Ehrencrona, Arif B. Ekici, Heather Eliassen, Steve Ellis, Peter A. Fasching, Jonine Figueroa, Dieter Flesch-Janys, Asta Försti, Florentia Fostira, William D. Foulkes, Tara Friebel, Eitan Friedman, Debra Frost, Marike Gabrielson, Marilie D. Gammon, Patricia A. Ganz, Susan M. Gapstur, Judy Garber, Mia M. Gaudet, Simon A. Gayther, Anne-Marie Gerdes, Maya Ghoussaini, Graham G. Giles, Gord Glendon, Andrew K. Godwin, Mark S. Goldberg, David E. Goldgar, Anna González-Neira, Mark H. Greene, Jacek Gronwald, Pascal Guénel, Marc Gunter, Lothar Haeberle, Christopher A. Haiman, Ute Hamann, Thomas V. O. Hansen, Steven Hart, Sue Healey, Tuomas Heikkinen, Brian E. Henderson, Josef Herzog, Frans B. L. Hogervorst, Antoinette Hollestelle, Maartje J. Hooning, Robert N. Hoover, John L. Hopper, Keith Humphreys, David J. Hunter, Tomasz Huzarski, Evgeny N. Imyanitov, Claudine Isaacs, Anna Jakubowska, Paul James, Ramunas Janavicius, Uffe Birk Jensen, Esther M. John, Michael Jones, Maria Kabisch, Siddhartha Kar, Beth Y. Karlan, Sofia Khan, Kay-Tee Khaw, Muhammad G. Kibriya, Julia A. Knight, Yon-Dschun Ko, Irene Konstantopoulou, Veli-Matti Kosma, Vessela Kristensen, Ava Kwong, Yael Laitman, Diether Lambrechts, Conxi Lazaro, Eunjung Lee, Loic Le Marchand, Jenny Lester, Annika Lindblom, Noralane Lindor, Sara Lindstrom, Jianjun Liu, Jirong Long, Jan Lubinski, Phuong L. Mai, Enes Makalic, Kathleen E. Malone, Arto Mannermaa, Siranoush Manoukian, Sara Margolin, Frederik Marme, John W. M. Martens, Lesley McGuffog, Alfons Meindl, Austin Miller, Roger L. Milne, Penelope Miron, Marco Montagna, Sylvie Mazoyer, Anna M. Mulligan, Taru A. Muranen, Katherine L. Nathanson, Susan L. Neuhausen, Heli Nevanlinna, Børge G. Nordestgaard, Robert L. Nussbaum, Kenneth Offit, Edith Olah, Olufunmilayo I. Olopade, Janet E. Olson, Ana Osorio, Sue K. Park, Petra H. Peeters, Bernard Peissel, Paolo Peterlongo, Julian Peto, Catherine M. Phelan, Robert Pilarski, Bruce Poppe, Katri Pylkäs, Paolo Radice, Nazneen Rahman, Johanna Rantala, Christine Rappaport, Gad Rennert, Andrea Richardson, Mark Robson, Isabelle Romieu, Anja Rudolph, Emiel J. Rutgers, Maria-Jose Sanchez, Regina M. Santella, Elinor J. Sawyer, Daniel F. Schmidt, Marjanka K. Schmidt, Rita K. Schmutzler, Fredrick Schumacher, Rodney Scott, Leigha Senter, Priyanka Sharma, Jacques Simard, Christian F. Singer, Olga M. Sinilnikova, Penny Soucy, Melissa Southey, Doris Steinemann, Marie Stenmark-Askmalm, Dominique Stoppa-Lyonnet, Anthony Swerdlow, Csilla I. Szabo, Rulla Tamimi, William Tapper, Manuel R. Teixeira, Soo-Hwang Teo, Mary B. Terry, Mads Thomassen, Deborah Thompson, Laima Tihomirova, Amanda E. Toland, Robert A. E. M. Tollenaar, Ian Tomlinson, Thérèse Truong, Helen Tsimiklis, Alex Teulé, Rosario Tumino, Nadine Tung, Clare Turnbull, Giski Ursin, Carolien H. M. van Deurzen, Elizabeth J. van Rensburg, Raymonda Varon-Mateeva, Zhaoming Wang, Shan Wang-Gohrke, Elisabete Weiderpass, Jeffrey N. Weitzel, Alice Whittemore, Hans Wildiers, Robert Winqvist, Xiaohong R. Yang, Drakoulis Yannoukakos, Song Yao, M Pilar Zamora, Wei Zheng, Per Hall, Peter Kraft, Celine Vachon, Susan Slager, Georgia Chenevix-Trench, Paul D. P. Pharoah, Alvaro A. N. Monteiro, Montserrat García-Closas, Douglas F. Easton, and Antonis C. Antoniou

Subjects
Science
Abstract

Oestrogen negative breast cancer is associated with a poor prognosis. In this study, the authors perform a meta-analysis of 11 breast cancer genome-wide association studies and identify four new loci associated with oestrogen negative breast cancer risk. These findings may aid in stratifying patients in the clinic.

Published
2016
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165. GRASP to minimize total weighted tardiness in a permutation flow shop environment

Author

Lina Paola Molina-Sánchez and Eliana María González-Neira

Subjects
Permutation Flow Shop (PFS), Total Weighted Tardiness (TWT), GRASP, Weighted Modified Due Date (WMDD), Apparent Tardiness Cost (ATC), Weighted Earliest Due Date (WEDD), Industrial engineering. Management engineering, T55.4-60.8, Production management. Operations management, TS155-194
Abstract

This paper addresses the scheduling problem in a Permutation Flow Shop (PFS) environment, which is associated with many types of industries such as chemical, petrochemical, automobile manufacturing, metallurgical, textile, etc. Thus, this work intends to solve a PFS scheduling problem in order to minimize the total weighted tardiness, since it is an important sequencing criterion not only for on time delivery jobs but also for customer satisfaction. To solve the problem, GRASP (Greedy Randomized Adaptive Search Procedure) metaheuristic is proposed as a solution, which has shown competitive results compared with other combinatorial problems. In addition, two utility functions called Weighted Modified Due Date (WMDD) and Apparent Tardiness Cost (ATC) are proposed to develop GRASP. These are based on dynamic dispatching rules and also known for solving the problem of total weighted tardiness for single machine scheduling problem. Next, an experimental design was carried out for comparing the GRASP performance with both utility functions and against the WEDD dispatching rule results. The results indicate that GRASP-WMDD could improve the total weighted tardiness in 47.8% compared with WEDD results. Finally, the GRASP-WMDD performance for the PFS total tardiness problem was evaluated, obtaining a relative deviation index of 13.89% and ranking the method over 26 heuristics and metaheuristics.

Published
2016
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166. SLC7A8 coding for LAT2 is associated with early disease progression in osteosarcoma and transports doxorubicin

Author

Hurkmans, Evelien G. E., primary, Koenderink, Jan B., additional, van den Heuvel, Jeroen J. M. W., additional, Versleijen-Jonkers, Yvonne M. H., additional, Hillebrandt-Roeffen, Melissa H. S., additional, Groothuismink, Johanne M., additional, Vos, Hanneke I., additional, van der Graaf, Winette T. A., additional, Flucke, Uta, additional, Muradjan, Grigor, additional, Schreuder, Hendrik W. B., additional, Hagleitner, Melanie M., additional, Brunner, Han G., additional, Gelderblom, Hans, additional, Cleton-Jansen, Anne-Marie, additional, Guchelaar, Henk-Jan, additional, de Bont, Eveline S. J. M., additional, Touw, Daan J., additional, Nijhoff, G. Jan, additional, Kremer, Leontien C. M., additional, Caron, Huib, additional, Windsor, Rachael, additional, Patiño-García, Ana, additional, González-Neira, Anna, additional, Saletta, Federica, additional, McCowage, Geoff, additional, Nagabushan, Sumanth, additional, Catchpoole, Daniel, additional, te Loo, D. Maroeska W. M., additional, and Coenen, Marieke J. H., additional

Published
2022
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167. Exome array analysis identifies ETFB as a novel susceptibility gene for anthracycline-induced cardiotoxicity in cancer patients

Author

Ruiz-Pinto, Sara, Pita, Guillermo, Martín, Miguel, Alonso-Gordoa, Teresa, Barnes, Daniel R., Alonso, María R., Herraez, Belén, García-Miguel, Purificación, Alonso, Javier, Pérez-Martínez, Antonio, Cartón, Antonio J., Gutiérrez-Larraya, Federico, García-Sáenz, José A., Benítez, Javier, Easton, Douglas. F., Patiño-García, Ana, and González-Neira, Anna

Published
2017
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168. Convergence of linear television and digital platforms: An analysis of YouTube offer and consumption

Author

Natalia Quintas-Froufe, Jorge Vázquez-Herrero, and Ana González-Neira

Subjects
Consumption (economics), Multimedia, Computer science, Communication, Digital video, Research studies, Convergence (relationship), computer.software_genre, computer, Language and Linguistics
Abstract

This research studies the offer and consumption on YouTube in Spain of videos from the three main media groups on free-to-air TV. Firstly, a study of the offer of these channels’ onset platforms was conducted. Later, the audience data gathered by YouTube Data API and Comscore between February and May 2020 was analyzed to ascertain the traditional broadcasters’ strategy regarding new viewing windows. The results indicate that this window display is used mainly as a promotional strategy and the channels do not consider it to be a key element in their digital strategy, with practical nonexistence of crossmedia initiatives and exclusive content. The consumer analysis permits definition of the TV content, its success and user patterns.

Published
2021

169. FANCM missense variants and breast cancer risk: a case-control association study of 75,156 European women

Author

Figlioli, Gisella, Billaud, Amandine, Ahearn, Thomas U, Antonenkova, Natalia N, Becher, Heiko, Beckmann, Matthias W, Behrens, Sabine, Benitez, Javier, Bermisheva, Marina, Blok, Marinus J, Bogdanova, Natalia V, Bonanni, Bernardo, Burwinkel, Barbara, Camp, Nicola J, Campbell, Archie, Castelao, Jose E, Cessna, Melissa H, Chanock, Stephen J, NBCS Collaborators, Czene, Kamila, Devilee, Peter, Dörk, Thilo, Engel, Christoph, Eriksson, Mikael, Fasching, Peter A, Figueroa, Jonine D, Gabrielson, Marike, Gago-Dominguez, Manuela, García-Closas, Montserrat, González-Neira, Anna, Grassmann, Felix, Guénel, Pascal, Gündert, Melanie, Hadjisavvas, Andreas, Hahnen, Eric, Hall, Per, Hamann, Ute, Harrington, Patricia A, He, Wei, Hillemanns, Peter, Hollestelle, Antoinette, Hooning, Maartje J, Hoppe, Reiner, Howell, Anthony, Humphreys, Keith, KConFab Investigators, Jager, Agnes, Jakubowska, Anna, Khusnutdinova, Elza K, Ko, Yon-Dschun, Kristensen, Vessela N, Lindblom, Annika, Lissowska, Jolanta, Lubiński, Jan, Mannermaa, Arto, Manoukian, Siranoush, Margolin, Sara, Mavroudis, Dimitrios, Newman, William G, Obi, Nadia, Panayiotidis, Mihalis I, Rashid, Muhammad U, Rhenius, Valerie, Rookus, Matti A, Saloustros, Emmanouil, Sawyer, Elinor J, Schmutzler, Rita K, Shah, Mitul, Sironen, Reijo, Southey, Melissa C, Suvanto, Maija, Tollenaar, Rob AEM, Tomlinson, Ian, Truong, Thérèse, Van Der Kolk, Lizet E, Van Veen, Elke M, Wappenschmidt, Barbara, Yang, Xiaohong R, Bolla, Manjeet K, Dennis, Joe, Dunning, Alison M, Easton, Douglas F, Lush, Michael, Michailidou, Kyriaki, Pharoah, Paul DP, Wang, Qin, Adank, Muriel A, Schmidt, Marjanka K, Andrulis, Irene L, Chang-Claude, Jenny, Nevanlinna, Heli, Chenevix-Trench, Georgia, Evans, D Gareth, Milne, Roger L, Radice, Paolo, Peterlongo, Paolo, Figlioli, Gisella [0000-0002-0740-1363], Becher, Heiko [0000-0002-8808-6667], Behrens, Sabine [0000-0002-9714-104X], Blok, Marinus J [0000-0002-7935-5933], Bonanni, Bernardo [0000-0003-3589-2128], Chanock, Stephen J [0000-0002-2324-3393], Devilee, Peter [0000-0002-8023-2009], Dörk, Thilo [0000-0002-9458-0282], Fasching, Peter A [0000-0003-4885-8471], Grassmann, Felix [0000-0003-1390-7528], Hollestelle, Antoinette [0000-0003-1166-1966], Jakubowska, Anna [0000-0002-5650-0501], Lissowska, Jolanta [0000-0003-2695-5799], Newman, William G [0000-0002-6382-4678], Panayiotidis, Mihalis I [0000-0002-1450-3552], Rashid, Muhammad U [0000-0002-7684-3122], Saloustros, Emmanouil [0000-0002-0485-0120], Yang, Xiaohong R [0000-0003-4451-8664], Dennis, Joe [0000-0003-4591-1214], Easton, Douglas F [0000-0003-2444-3247], Michailidou, Kyriaki [0000-0001-7065-1237], Pharoah, Paul DP [0000-0001-8494-732X], Schmidt, Marjanka K [0000-0002-2228-429X], Andrulis, Irene L [0000-0002-4226-6435], Nevanlinna, Heli [0000-0002-0916-2976], Milne, Roger L [0000-0001-5764-7268], Radice, Paolo [0000-0001-6298-4111], Peterlongo, Paolo [0000-0001-6951-6855], and Apollo - University of Cambridge Repository

Subjects
DNA Helicases, Humans, Female, Breast Neoplasms, Triple Negative Breast Neoplasms, Genetic Predisposition to Disease, KConFab Investigators, NBCS Collaborators
Abstract

Evidence from literature, including the BRIDGES study, indicates that germline protein truncating variants (PTVs) in FANCM confer moderately increased risk of ER-negative and triple-negative breast cancer (TNBC), especially for women with a family history of the disease. Association between FANCM missense variants (MVs) and breast cancer risk has been postulated. In this study, we further used the BRIDGES study to test 689 FANCM MVs for association with breast cancer risk, overall and in ER-negative and TNBC subtypes, in 39,885 cases (7566 selected for family history) and 35,271 controls of European ancestry. Sixteen common MVs were tested individually; the remaining rare 673 MVs were tested by burden analyses considering their position and pathogenicity score. We also conducted a meta-analysis of our results and those from published studies. We did not find evidence for association for any of the 16 variants individually tested. The rare MVs were significantly associated with increased risk of ER-negative breast cancer by burden analysis comparing familial cases to controls (OR = 1.48; 95% CI 1.07-2.04; P = 0.017). Higher ORs were found for the subgroup of MVs located in functional domains or predicted to be pathogenic. The meta-analysis indicated that FANCM MVs overall are associated with breast cancer risk (OR = 1.22; 95% CI 1.08-1.38; P = 0.002). Our results support the definition from previous analyses of FANCM as a moderate-risk breast cancer gene and provide evidence that FANCM MVs could be low/moderate risk factors for ER-negative and TNBC subtypes. Further genetic and functional analyses are necessary to clarify better the increased risks due to FANCM MVs.

Published
2022
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170. Association analysis identifies 65 new breast cancer risk loci

Author

Michailidou, Kyriaki, Lindström, Sara, Dennis, Joe, Beesley, Jonathan, Hui, Shirley, Kar, Siddhartha, Lemaçon, Audrey, Soucy, Penny, Glubb, Dylan, Rostamianfar, Asha, Bolla, Manjeet K., Wang, Qin, Tyrer, Jonathan, Dicks, Ed, Lee, Andrew, Wang, Zhaoming, Allen, Jamie, Keeman, Renske, Eilber, Ursula, French, Juliet D., Qing Chen, Xiao, Fachal, Laura, McCue, Karen, McCart Reed, Amy E., Ghoussaini, Maya, Carroll, Jason S., Jiang, Xia, Finucane, Hilary, Adams, Marcia, Adank, Muriel A., Ahsan, Habibul, Aittomäki, Kristiina, Anton-Culver, Hoda, Antonenkova, Natalia N., Arndt, Volker, Aronson, Kristan J., Arun, Banu, Auer, Paul L., Bacot, François, Barrdahl, Myrto, Baynes, Caroline, Beckmann, Matthias W., Behrens, Sabine, Benitez, Javier, Bermisheva, Marina, Bernstein, Leslie, Blomqvist, Carl, Bogdanova, Natalia V., Bojesen, Stig E., Bonanni, Bernardo, Børresen-Dale, Anne-Lise, Brand, Judith S., Brauch, Hiltrud, Brennan, Paul, Brenner, Hermann, Brinton, Louise, Broberg, Per, Brock, Ian W., Broeks, Annegien, Brooks-Wilson, Angela, Brucker, Sara Y., Brüning, Thomas, Burwinkel, Barbara, Butterbach, Katja, Cai, Qiuyin, Cai, Hui, Caldés, Trinidad, Canzian, Federico, Carracedo, Angel, Carter, Brian D., Castelao, Jose E., Chan, Tsun L., David Cheng, Ting-Yuan, Seng Chia, Kee, Choi, Ji-Yeob, Christiansen, Hans, Clarke, Christine L., Collée, Margriet, Conroy, Don M., Cordina-Duverger, Emilie, Cornelissen, Sten, Cox, David G., Cox, Angela, Cross, Simon S., Cunningham, Julie M., Czene, Kamila, Daly, Mary B., Devilee, Peter, Doheny, Kimberly F., Dörk, Thilo, dos-Santos-Silva, Isabel, Dumont, Martine, Durcan, Lorraine, Dwek, Miriam, Eccles, Diana M., Ekici, Arif B., Eliassen, A. Heather, Ellberg, Carolina, Elvira, Mingajeva, Engel, Christoph, Eriksson, Mikael, Fasching, Peter A., Figueroa, Jonine, Flesch-Janys, Dieter, Fletcher, Olivia, Flyger, Henrik, Fritschi, Lin, Gaborieau, Valerie, Gabrielson, Marike, Gago-Dominguez, Manuela, Gao, Yu-Tang, Gapstur, Susan M., García-Sáenz, José A., Gaudet, Mia M., Georgoulias, Vassilios, Giles, Graham G., Glendon, Gord, Goldberg, Mark S., Goldgar, David E., González-Neira, Anna, Grenaker Alnæs, Grethe I., Grip, Mervi, Gronwald, Jacek, Grundy, Anne, Guénel, Pascal, Haeberle, Lothar, Hahnen, Eric, Haiman, Christopher A., Håkansson, Niclas, Hamann, Ute, Hamel, Nathalie, Hankinson, Susan, Harrington, Patricia, Hart, Steven N., Hartikainen, Jaana M., Hartman, Mikael, Hein, Alexander, Heyworth, Jane, Hicks, Belynda, Hillemanns, Peter, Ho, Dona N., Hollestelle, Antoinette, Hooning, Maartje J., Hoover, Robert N., Hopper, John L., Hou, Ming-Feng, Hsiung, Chia-Ni, Huang, Guanmengqian, Humphreys, Keith, Ishiguro, Junko, Ito, Hidemi, Iwasaki, Motoki, Iwata, Hiroji, Jakubowska, Anna, Janni, Wolfgang, John, Esther M., Johnson, Nichola, Jones, Kristine, Jones, Michael, Jukkola-Vuorinen, Arja, Kaaks, Rudolf, Kabisch, Maria, Kaczmarek, Katarzyna, Kang, Daehee, Kasuga, Yoshio, Kerin, Michael J., Khan, Sofia, Khusnutdinova, Elza, Kiiski, Johanna I., Kim, Sung-Won, Knight, Julia A., Kosma, Veli-Matti, Kristensen, Vessela N., Krüger, Ute, Kwong, Ava, Lambrechts, Diether, Le Marchand, Loic, Lee, Eunjung, Lee, Min Hyuk, Lee, Jong Won, Neng Lee, Chuen, Lejbkowicz, Flavio, Li, Jingmei, Lilyquist, Jenna, Lindblom, Annika, Lissowska, Jolanta, Lo, Wing-Yee, Loibl, Sibylle, Long, Jirong, Lophatananon, Artitaya, Lubinski, Jan, Luccarini, Craig, Lux, Michael P., Ma, Edmond S. K., MacInnis, Robert J., Maishman, Tom, Makalic, Enes, Malone, Kathleen E., Kostovska, Ivana Maleva, Mannermaa, Arto, Manoukian, Siranoush, Manson, JoAnn E., Margolin, Sara, Mariapun, Shivaani, Martinez, Maria Elena, Matsuo, Keitaro, Mavroudis, Dimitrios, McKay, James, McLean, Catriona, Meijers-Heijboer, Hanne, Meindl, Alfons, Menéndez, Primitiva, Menon, Usha, Meyer, Jeffery, Miao, Hui, Miller, Nicola, Taib, Nur Aishah Mohd, Muir, Kenneth, Mulligan, Anna Marie, Mulot, Claire, Neuhausen, Susan L., Nevanlinna, Heli, Neven, Patrick, Nielsen, Sune F., Noh, Dong-Young, Nordestgaard, Børge G., Norman, Aaron, Olopade, Olufunmilayo I., Olson, Janet E., Olsson, Håkan, Olswold, Curtis, Orr, Nick, Pankratz, V. Shane, Park, Sue K., Park-Simon, Tjoung-Won, Lloyd, Rachel, Perez, Jose I. A., Peterlongo, Paolo, Peto, Julian, Phillips, Kelly-Anne, Pinchev, Mila, Plaseska-Karanfilska, Dijana, Prentice, Ross, Presneau, Nadege, Prokofyeva, Darya, Pugh, Elizabeth, Pylkäs, Katri, Rack, Brigitte, Radice, Paolo, Rahman, Nazneen, Rennert, Gadi, Rennert, Hedy S., Rhenius, Valerie, Romero, Atocha, Romm, Jane, Ruddy, Kathryn J., Rüdiger, Thomas, Rudolph, Anja, Ruebner, Matthias, Rutgers, Emiel J. T., Saloustros, Emmanouil, Sandler, Dale P., Sangrajrang, Suleeporn, Sawyer, Elinor J., Schmidt, Daniel F., Schmutzler, Rita K., Schneeweiss, Andreas, Schoemaker, Minouk J., Schumacher, Fredrick, Schürmann, Peter, Scott, Rodney J., Scott, Christopher, Seal, Sheila, Seynaeve, Caroline, Shah, Mitul, Sharma, Priyanka, Shen, Chen-Yang, Sheng, Grace, Sherman, Mark E., Shrubsole, Martha J., Shu, Xiao-Ou, Smeets, Ann, Sohn, Christof, Southey, Melissa C., Spinelli, John J., Stegmaier, Christa, Stewart-Brown, Sarah, Stone, Jennifer, Stram, Daniel O., Surowy, Harald, Swerdlow, Anthony, Tamimi, Rulla, Taylor, Jack A., Tengström, Maria, Teo, Soo H., Beth Terry, Mary, Tessier, Daniel C., Thanasitthichai, Somchai, Thöne, Kathrin, Tollenaar, Rob A. E. M., Tomlinson, Ian, Tong, Ling, Torres, Diana, Truong, Thérèse, Tseng, Chiu-Chen, Tsugane, Shoichiro, Ulmer, Hans-Ulrich, Ursin, Giske, Untch, Michael, Vachon, Celine, van Asperen, Christi J., Van Den Berg, David, van den Ouweland, Ans M. W., van der Kolk, Lizet, van der Luijt, Rob B., Vincent, Daniel, Vollenweider, Jason, Waisfisz, Quinten, Wang-Gohrke, Shan, Weinberg, Clarice R., Wendt, Camilla, Whittemore, Alice S., Wildiers, Hans, Willett, Walter, Winqvist, Robert, Wolk, Alicja, Wu, Anna H., Xia, Lucy, Yamaji, Taiki, Yang, Xiaohong R., Har Yip, Cheng, Yoo, Keun-Young, Yu, Jyh-Cherng, Zheng, Wei, Zheng, Ying, Zhu, Bin, Ziogas, Argyrios, Ziv, Elad, Lakhani, Sunil R., Antoniou, Antonis C., Droit, Arnaud, Andrulis, Irene L., Amos, Christopher I., Couch, Fergus J., Pharoah, Paul D. P., Chang-Claude, Jenny, Hall, Per, Hunter, David J., Milne, Roger L., García-Closas, Montserrat, Schmidt, Marjanka K., Chanock, Stephen J., Dunning, Alison M., Edwards, Stacey L., Bader, Gary D., Chenevix-Trench, Georgia, Simard, Jacques, Kraft, Peter, and Easton, Douglas F.

Published
2017
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171. Consumo televisivo y su medición en España: camino hacia las audiencias híbridas

Author

Quintas-Froufe, Natalia and González-Neira, Ana

Subjects
BJ. Communication, CB. User studies., HH. Audio-visual, Multimedia., HT. Web 2.0, Social networks
Abstract

Television consumption and its measurement inSpain: a path to hybrid audiences. Television has transformed through digitization, and as a result, viewers can access content from different devices, which has led to the birth of liquid television. In order to fully understand TV consumption, it is necessary to supplement data from the traditional audience with data from new forms of TV use. This paper discusses techniques for new audience measurement, including asynchronous or linear content consumption, i.e., consumption by the viewer during the scheduled broadcast, and consumption from different screens.

Published
2016

172. BRAF V600E Detection in Liquid Biopsies from Pediatric Central Nervous System Tumors

Author

Noemi García-Romero, Josefa Carrión-Navarro, Pilar Areal-Hidalgo, Ana Ortiz de Mendivil, Adriá Asensi-Puig, Rodrigo Madurga, Rocio Núñez-Torres, Anna González-Neira, Cristobal Belda-Iniesta, Victor González-Rumayor, Blanca López-Ibor, and Angel Ayuso-Sacido

Subjects
pediatric brain tumors, liquid biopsy, braf, dabrafenib, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282
Abstract

Pediatric Central Nervous System (CNS) tumors are the most fatal cancer diseases in childhood. Due to their localization and infiltrative nature, some tumor resections or biopsies are not feasible. In those cases, the use of minimally invasive methods as diagnostic, molecular marker detection, prognostic or monitoring therapies are emerging. The analysis of liquid biopsies which contain genetic information from the tumor has been much more widely explored in adults than in children. We compare the detection of BRAF V600E targetable mutation by digital-PCR from cell-free-DNA and EV-derived DNA (ctDNA) in serum, plasma and cerebrospinal fluid (CSF) isolated from a cohort of 29 CNS pediatric patients. Here we demonstrate that ctDNA isolated from serum and plasma could be successfully analyzed to obtain tumor genetic information which could be used to guide critical treatment decisions.

Published
2019
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174. Efecto del entrenamiento mental en la capacitación de aprendices en cirugía laparoscópica

Author

JAIME MANTILLA FLÓREZ, ANDREA SUÁREZ, ALFREDO LAVERDE, JOSÉ GONZALO MOROS, ELIANA MARÍA GONZÁLEZ-NEIRA, and DANIEL R. SUÁREZ

Subjects
Medicine
Abstract

Introducción: Este estudio evalúa el efecto de la implementación de la técnica entrenamiento mental en la formación, y especialmente en el tiempo de ejecución de tareas, de aprendices de cirugía laparoscópica. Métodos: Se realizó un diseño experimental de medidas repetidas con dos grupos de estudio (un grupo control y un grupo con “entrenamiento mental”) con ocho participantes cada uno. A los participantes de ambos grupos se les realizaron tres mediciones, en un periodo de un mes, en cuatro habilidades básicas (corte, disección, desplazamiento y sutura) mediante cuatro pruebas evaluativas dispuestas en cajas de entrenamiento. Resultados: Se observó que el grupo con “entrenamiento mental” tuvo una disminución significativa en el tiempo de ejecución de las actividades en tres de las pruebas (desplazamiento, disección y sutura). Conclusiones: Este protocolo podría ser usado como complemento del entrenamiento básico que reciben los estudiantes disminuyendo tiempos y costos en un curso de laparoscopia.

Published
2015

175. Incorporating progesterone receptor expression into the PREDICT breast prognostic model

Author

Isabelle Grootes, Renske Keeman, Fiona M. Blows, Roger L. Milne, Graham G. Giles, Anthony J. Swerdlow, Peter A. Fasching, Mustapha Abubakar, Irene L. Andrulis, Hoda Anton-Culver, Matthias W. Beckmann, Carl Blomqvist, Stig E. Bojesen, Manjeet K. Bolla, Bernardo Bonanni, Ignacio Briceno, Barbara Burwinkel, Nicola J. Camp, Jose E. Castelao, Ji-Yeob Choi, Christine L. Clarke, Fergus J. Couch, Angela Cox, Simon S. Cross, Kamila Czene, Peter Devilee, Thilo Dörk, Alison M. Dunning, Miriam Dwek, Douglas F. Easton, Diana M. Eccles, Mikael Eriksson, Kristina Ernst, D. Gareth Evans, Jonine D. Figueroa, Visnja Fink, Giuseppe Floris, Stephen Fox, Marike Gabrielson, Manuela Gago-Dominguez, José A. García-Sáenz, Anna González-Neira, Lothar Haeberle, Christopher A. Haiman, Per Hall, Ute Hamann, Elaine F. Harkness, Mikael Hartman, Alexander Hein, Maartje J. Hooning, Ming-Feng Hou, Sacha J. Howell, Hidemi Ito, Anna Jakubowska, Wolfgang Janni, Esther M. John, Audrey Jung, Daehee Kang, Vessela N. Kristensen, Ava Kwong, Diether Lambrechts, Jingmei Li, Jan Lubiński, Mehdi Manoochehri, Sara Margolin, Keitaro Matsuo, Nur Aishah Mohd Taib, Anna Marie Mulligan, Heli Nevanlinna, William G. Newman, Kenneth Offit, Ana Osorio, Sue K. Park, Tjoung-Won Park-Simon, Alpa V. Patel, Nadege Presneau, Katri Pylkäs, Brigitte Rack, Paolo Radice, Gad Rennert, Atocha Romero, Emmanouil Saloustros, Elinor J. Sawyer, Andreas Schneeweiss, Fabienne Schochter, Minouk J. Schoemaker, Chen-Yang Shen, Rana Shibli, Peter Sinn, William J. Tapper, Essa Tawfiq, Soo Hwang Teo, Lauren R. Teras, Diana Torres, Celine M. Vachon, Carolien H.M. van Deurzen, Camilla Wendt, Justin A. Williams, Robert Winqvist, Mark Elwood, Marjanka K. Schmidt, Montserrat García-Closas, Paul D.P. Pharoah, Medical Oncology, Pathology, Medicum, HUS Comprehensive Cancer Center, Department of Oncology, Clinicum, University of Helsinki, Helsinki University Hospital Area, Institute for Molecular Medicine Finland, HUS Gynecology and Obstetrics, and Department of Obstetrics and Gynecology

Subjects
Cancer Research, Breast Neoplasms/pathology, Manchester Cancer Research Centre, Receptor, ErbB-2, Receptors, Progesterone/metabolism, ResearchInstitutes_Networks_Beacons/mcrc, ADJUVANT TAMOXIFEN, 3122 Cancers, Receptor, ErbB-2/metabolism, Breast Neoplasms, PREDICT Breast, Prognosis, THERAPY, Progesterone receptor, Breast cancer, breast cancer, ESTROGEN-RECEPTOR, Oncology, SDG 3 - Good Health and Well-being, Humans, Female, CANCER PATIENTS, Receptors, Progesterone, Progesterone
Abstract

Background: Predict Breast (www.predict.nhs.uk) is an online prognostication and treatment benefit tool for early invasive breast cancer. The aim of this study was to incorporate the prognostic effect of progesterone receptor (PR) status into a new version of PREDICT and to compare its performance to the current version (2.2).Method: The prognostic effect of PR status was based on the analysis of data from 45,088 European patients with breast cancer from 49 studies in the Breast Cancer Association Consortium. Cox proportional hazard models were used to estimate the hazard ratio for PR status. Data from a New Zealand study of 11,365 patients with early invasive breast cancer were used for external validation. Model calibration and discrimination were used to test the model performance.Results: Having a PR-positive tumour was associated with a 23% and 28% lower risk of dying from breast cancer for women with oestrogen receptor (ER)-negative and ER-positive breast cancer, respectively. The area under the ROC curve increased with the addition of PR status from 0.807 to 0.809 for patients with ER-negative tumours (p = 0.023) and from 0.898 to 0. 902 for patients with ER-positive tumours (p = 2.3 x 10(-6)) in the New Zealand cohort. Model calibration was modest with 940 observed deaths compared to 1151 predicted.Conclusion: The inclusion of the prognostic effect of PR status to PREDICT Breast has led to an improvement of model performance and more accurate absolute treatment benefit predic-tions for individual patients. Further studies should determine whether the baseline hazard function requires recalibration. (C) 2022 The Author(s). Published by Elsevier Ltd. This is an open access article under the CC BY license (http://creativecommons.org/licenses/by/4.0/).

Published
2022

176. Incorporating progesterone receptor expression into the PREDICT breast prognostic model

Author

Grootes, Isabelle, primary, Keeman, Renske, additional, Blows, Fiona M., additional, Milne, Roger L., additional, Giles, Graham G., additional, Swerdlow, Anthony J., additional, Fasching, Peter A., additional, Abubakar, Mustapha, additional, Andrulis, Irene L., additional, Anton-Culver, Hoda, additional, Beckmann, Matthias W., additional, Blomqvist, Carl, additional, Bojesen, Stig E., additional, Bolla, Manjeet K., additional, Bonanni, Bernardo, additional, Briceno, Ignacio, additional, Burwinkel, Barbara, additional, Camp, Nicola J., additional, Castelao, Jose E., additional, Choi, Ji-Yeob, additional, Clarke, Christine L., additional, Couch, Fergus J., additional, Cox, Angela, additional, Cross, Simon S., additional, Czene, Kamila, additional, Devilee, Peter, additional, Dörk, Thilo, additional, Dunning, Alison M., additional, Dwek, Miriam, additional, Easton, Douglas F., additional, Eccles, Diana M., additional, Eriksson, Mikael, additional, Ernst, Kristina, additional, Evans, D. Gareth, additional, Figueroa, Jonine D., additional, Fink, Visnja, additional, Floris, Giuseppe, additional, Fox, Stephen, additional, Gabrielson, Marike, additional, Gago-Dominguez, Manuela, additional, García-Sáenz, José A., additional, González-Neira, Anna, additional, Haeberle, Lothar, additional, Haiman, Christopher A., additional, Hall, Per, additional, Hamann, Ute, additional, Harkness, Elaine F., additional, Hartman, Mikael, additional, Hein, Alexander, additional, Hooning, Maartje J., additional, Hou, Ming-Feng, additional, Howell, Sacha J., additional, Ito, Hidemi, additional, Jakubowska, Anna, additional, Janni, Wolfgang, additional, John, Esther M., additional, Jung, Audrey, additional, Kang, Daehee, additional, Kristensen, Vessela N., additional, Kwong, Ava, additional, Lambrechts, Diether, additional, Li, Jingmei, additional, Lubiński, Jan, additional, Manoochehri, Mehdi, additional, Margolin, Sara, additional, Matsuo, Keitaro, additional, Taib, Nur Aishah Mohd, additional, Mulligan, Anna Marie, additional, Nevanlinna, Heli, additional, Newman, William G., additional, Offit, Kenneth, additional, Osorio, Ana, additional, Park, Sue K., additional, Park-Simon, Tjoung-Won, additional, Patel, Alpa V., additional, Presneau, Nadege, additional, Pylkäs, Katri, additional, Rack, Brigitte, additional, Radice, Paolo, additional, Rennert, Gad, additional, Romero, Atocha, additional, Saloustros, Emmanouil, additional, Sawyer, Elinor J., additional, Schneeweiss, Andreas, additional, Schochter, Fabienne, additional, Schoemaker, Minouk J., additional, Shen, Chen-Yang, additional, Shibli, Rana, additional, Sinn, Peter, additional, Tapper, William J., additional, Tawfiq, Essa, additional, Teo, Soo Hwang, additional, Teras, Lauren R., additional, Torres, Diana, additional, Vachon, Celine M., additional, van Deurzen, Carolien H.M., additional, Wendt, Camilla, additional, Williams, Justin A., additional, Winqvist, Robert, additional, Elwood, Mark, additional, Schmidt, Marjanka K., additional, García-Closas, Montserrat, additional, and Pharoah, Paul D.P., additional

Published
2022
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177. Exome array analysis identifies GPR35 as a novel susceptibility gene for anthracycline-induced cardiotoxicity in childhood cancer

Author

Ruiz-Pinto, Sara, Pita, Guillermo, Patiño-García, Ana, Alonso, Javier, Pérez-Martínez, Antonio, Cartón, Antonio J., Gutiérrez-Larraya, Federico, Alonso, María R., Barnes, Daniel R., Dennis, Joe, Michailidou, Kyriaki, Gómez-Santos, Carmen, Thompson, Deborah J., Easton, Douglas F., Benítez, Javier, and González-Neira, Anna

Published
2017
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178. Genome-wide association study identifies multiple new loci associated with Ewing sarcoma susceptibility

Author

Machiela, Mitchell J., Grünewald, Thomas G. P., Surdez, Didier, Reynaud, Stephanie, Mirabeau, Olivier, Karlins, Eric, Rubio, Rebeca Alba, Zaidi, Sakina, Grossetete-Lalami, Sandrine, Ballet, Stelly, Lapouble, Eve, Laurence, Valérie, Michon, Jean, Pierron, Gaelle, Kovar, Heinrich, Gaspar, Nathalie, Kontny, Udo, González-Neira, Anna, Picci, Piero, Alonso, Javier, Patino-Garcia, Ana, Corradini, Nadège, Bérard, Perrine Marec, Freedman, Neal D., Rothman, Nathaniel, Dagnall, Casey L., Burdett, Laurie, Jones, Kristine, Manning, Michelle, Wyatt, Kathleen, Zhou, Weiyin, Yeager, Meredith, Cox, David G., Hoover, Robert N., Khan, Javed, Armstrong, Gregory T., Leisenring, Wendy M., Bhatia, Smita, Robison, Leslie L., Kulozik, Andreas E., Kriebel, Jennifer, Meitinger, Thomas, Metzler, Markus, Hartmann, Wolfgang, Strauch, Konstantin, Kirchner, Thomas, Dirksen, Uta, Morton, Lindsay M., Mirabello, Lisa, Tucker, Margaret A., Tirode, Franck, Chanock, Stephen J., and Delattre, Olivier

Published
2018
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182. Metaheurística para la solución del Transit Network Design Problem multiobjetivo con demanda multiperiodo

Author

Natalia Andrea Garzon, Eliana María González Neira, and Ignacio Pérez Vélez

Subjects
Diseño de redes de transporte, transporte público, búsqueda de vecindades variables, optimización multiobjetivo., Technology, Science, Science (General), Q1-390
Abstract

En este artículo se estudia el problema de Red de Transporte, usualmente conocido como TNDP (Transit Network Design Problem) multiobjetivo. Este consiste en encontrar la combinación ideal de rutas y frecuencias, que permita realizar un balance entre los intereses de los usuarios y los operadores, que se contraponen. Utiliza como datos de entrada un grafo con sus respectivos costos de transporte (en este caso tiempos) y demandas asociadas a cada par de nodos. Como método de solución a este problema de optimización combinatoria multiobjetivo, se propone el uso de la metaheurística Búsqueda en Vecindades Variables (VNS), que resuelve problemas de optimización buscando soluciones competitivas mediante el cambio de vecindario iterativamente. El método propuesto fue probado inicialmente en el caso de estudio diseñado por Mandl, que consiste en 15 nodos y 21 arcos, y una matriz de demandas simétrica; y posteriormente para otras 11 instancias con tres tamaños de grafo diferentes (15, 30, 45 nodos). El modelo primero se corrió con el caso original para compararlo con autores que en oportunidades pasadas han trabajado el mismo problema. Posteriormente el VNS propuesto se probó con un modelo de demanda cambiante en 3 momentos del día (Mañana, tarde y noche) para corroborar los resultados positivos obtenidos en el primer ejercicio y darle un alcance mayor a la solución del problema.

Published
2017
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184. Evaluation of Basic Skills Improvement for Laparoscopy by Training with a Video Game

Author

María Fernanda Gómez-Ramírez, Juan Carlos Gómez, Eliana María González-Neira, Saúl Rugeles, Daniel R. Suárez, and Lilian Torregrosa

Subjects
minimally invasive surgery, laparoscopy, video games, surgical basic skills, Medicine, Medicine (General), R5-920
Abstract

Introduction: Due to the growing economical and ethical limitations in surgeons training for minimally invasive surgery (mis, e.g. laparoscopy), this study aims at evaluating the effect of a continuous practice of a particular videogame on the development of the fundamental and specific skills needed to perform this type of procedure successfully. Materials and methods: To evaluate the effectiveness of video game practicing, three essential and common activities were chosen (cutting, suturing, and eye-hand coordination) to be performed in laparoscopic simulators. Eight different indexes or variables of performance were measured in the three activities. Fourteen voluntaries without previous experience in surgery were divided in two groups (intervention and control) and their performance was evaluated before and after a one-month standardized training program with the video game Marble Mania®. Results: A general improvement of all the performance variables was observed after one month training in the intervention group. This improvement was significant with respect to the control group in three of the eight variables: suturing errors (p = 0.003), and the execution and number of errors in the eye-hand coordination (p = 0.025 and 0.001, respectively).

Published
2014

185. Audiencia tradicional frente a audiencia social: un análisis comparativo en el prime-time televisivo

Author

Ana González-Neira and Natalia Quintas Froufe

Subjects
Communication. Mass media, P87-96
Abstract

La interacción de redes sociales y productos televisivos ha dado pie al nacimiento de la televisión social en la que el espectador participa activamente en el desarrollo de los espacios. Este fenómeno emergente está siendo objeto de múltiples investigaciones en el campo de las audiencias por las posibilidades y el potencial que supone para el medio a la hora de conocer e interactuar con los espectadores. El objetivo de este trabajo es realizar una comparación entre la audiencia real y la audiencia social (o impacto social) de los programas emitidos en prime-time durante varias semanas de los meses de abril y mayo de 2013. Esta investigación se centra en Twitter por ser la red social que concentra gran parte de los debates sobre televisión (Gallego, 2013). Para ello se plantean las siguientes hipótesis de partida: 1- No existe paralelismo entre los cinco programas más vistos en televisión con aquellos que se sitúan entre los cinco con mayor audiencia social del mismo día. 2- El éxito de un programa en audiencia social no depende exclusivamente de su formato. Para alcanzar los objetivos de la investigación se estudian los datos de audiencia real procedentes de Kantar Media, así como los de impacto social facilitados Tuitele y Global-In-Media.

Published
2014

186. Implementación de la Gestión Estratégica de Talento Humano en el Instituto Ecuatoriano de Seguridad Social

Author

Gonzalo Iván Andrade-Mena, Edwin Joselito Vásquez-Erazo, and Marco Antonio González-Neira

Subjects
Welfare economics, Political science, General Engineering, Elaboration
Abstract

espanolEl objetivo de esta investigacion es proponer un modelo gestion estrategica del talento humano, a traves de la elaboracion de una plantilla optima en la Institucion, para el crecimiento y desarrollo integral del potencial individual y organizacional. El alcance de esta investigacion fue de tipo descriptivo. Se pudo evidenciar que no existe una adecuada seleccion de personal y ni un modelo de capacitaciones que se aplique al personal y una falta de. El modelo de gestion estrategica planteado ayudara a mejorar las etapas de contratacion, seleccion, incentivos y evaluacion para poder cumplir a cabalidad los objetivos Institucionales. EnglishThe objective of this research is to propose a strategic management model for human talent, through the elaboration of an optimal staff in the Institution, for the integral growth and development of individual and organizational potential. The scope of this research was descriptive. It was possible to show that there is no adequate selection of personnel and no training model applied to personnel and a lack of. The proposed strategic management model will help improve the hiring, selection, incentives and evaluation stages in order to fully meet the Institutional objectives.

Published
2021

187. Role of germline variants in the metastasis of breast carcinomas

Author

Santonja, Ángela, primary, Moya-García, Aurelio A., additional, Ribelles, Nuria, additional, Jiménez-Rodríguez, Begoña, additional, Pajares, Bella, additional, Fernández-De Sousa, Cristina E., additional, Pérez-Ruiz, Elísabeth, additional, Monte-Millán, María del, additional, Ruiz-Borrego, Manuel, additional, de la Haba, Juan, additional, Sánchez-Rovira, Pedro, additional, Romero, Atocha, additional, González-Neira, Anna, additional, Lluch, Ana, additional, and Alba, Emilio, additional

Published
2022
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188. Exome sequencing identifies novel susceptibility genes and defines the contribution of coding variants to breast cancer risk.

Author

Wilcox, Naomi, primary, Dumont, Martine, additional, González-Neira, Anna, additional, Carvalho, Sara, additional, Beauparlant, Charles Joly, additional, Crotti, Marco, additional, Luccarini, Craig, additional, Soucy, Penny, additional, Dubois, Stéphane, additional, Nuñez-Torres, Rocio, additional, Pita, Guillermo, additional, Alonso, M. Rosario, additional, Álvarez, Nuria, additional, Baynes, Caroline, additional, Becker, Heiko, additional, Behrens, Sabine, additional, Bolla, Manjeet K., additional, Castelao, Jose E., additional, Chang-Claude, Jenny, additional, Cornelissen, Sten, additional, Dennis, Joe, additional, Dörk, Thilo, additional, Engel, Christoph, additional, Gago-Dominguez, Manuela, additional, Guenel, Pascal, additional, Hadjisavvas, Andreas, additional, Hahnen, Eric, additional, Hartman, Mikael, additional, Herráez, Belén, additional, Investigators, SGBCC, additional, Jung, Audrey, additional, Keeman, Renske, additional, Kiechle, Marion, additional, Li, Jingmei, additional, Loizidou, Maria A., additional, Lush, Michael, additional, Michailidou, Kyriaki, additional, Panayiotidis, Mihalis I., additional, Sim, Xueling, additional, Teo, Soo Hwang, additional, Tyrer, Jonathan P., additional, van der Kolk, Lizet E., additional, Wahlstrom, Cecilia, additional, Wang, Qin, additional, Benitez, Javier, additional, Schmidt, Marjanka K., additional, Schmutzler, Rita K., additional, Pharoah, Paul, additional, Droit, Arnaud, additional, Dunning, Alison M, additional, Kvist, Anders, additional, Devilee, Peter, additional, Easton, Douglas F., additional, and Simard, Jacques, additional

Published
2022
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189. Análisis de ediciones vespertinas de prensa para tabletas

Author

Nozal, Teresa, González-Neira, Ana, and Sanjuán, Antonio

Subjects
HA. Periodicals, Newspapers., HI. Electronic Media., HN. e-journals., IG. Information presentation: hypertext, hypermedia., LJ. Software., LT. Mobile devices
Abstract

In a media ecosystem with news products available instantly, anywhere and at any time, some newspapers have sprung a surprise by publishing an evening edition for tablets, even in countries with no newsprint tradition. This article considers the keys to interpreting this apparent contradiction between the current media ecosystem and the strategy underlying the launch of late editions for these mobile devices. To do so, we establish a sample of native evening newspaper applications not available in print, examine them and interview the prime movers. The conclusions reveal the unique role played by this newspaper type within the daily information process. More than just an end in themselves, they have become a medium that maintains previous patterns of consumption.

Published
2014

190. Active Audiences: Social Audience Participation in Television = Audiencias activas: Participación de la audiencia social en la televisión

Author

Quintas-Froufe, Natalia and González-Neira, Ana

Subjects
C. Users, literacy and reading.
Abstract

The combination of social networks, second screens and TV has given rise to a new relationship between viewers and their televisions, and the traditional roles in the communication paradigm have been altered irrevocably. Social television has spawned the social audience, a fragmentation of the real audience based on how they interact with social networks. This study is an attempt to analyze the factors which contribute to the success or failure of programs with a similar format in relation to their social audience. To do so, the study took as its subject three talent shows launched on the principal mainstream TV channels in Spain in September 2013. The study looked at the impact of these shows on the Twitter network, employing a control form [and developing a categorization and coding system for the analysis with the aim of collating all the data collected]. The results showed that the success of the shows was influenced by the activity in the social network accounts of the presenters and the judges. The conclusions reached in this analysis of the Spanish audience could be used as a development model for social audiences in other countries where social television is not so widespread.

Published
2014
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191. Role of germline variants in the metastasis of breast carcinomas

Author

Ángela Santonja, Aurelio A. Moya-García, Nuria Ribelles, Begoña Jiménez-Rodríguez, Bella Pajares, Cristina E. Fernández-De Sousa, Elísabeth Pérez-Ruiz, María del Monte-Millán, Manuel Ruiz-Borrego, Juan de la Haba, Pedro Sánchez-Rovira, Atocha Romero, Anna González-Neira, Ana Lluch, and Emilio Alba

Subjects
Oncology, Tumor Microenvironment, Humans, Breast Neoplasms, Neoplasm Metastasis, Germ-Line Mutation, Genome-Wide Association Study
Abstract

Most cancer-related deaths in breast cancer patients are associated with metastasis, a multistep, intricate process that requires the cooperation of tumour cells, tumour microenvironment and metastasis target tissues. It is accepted that metastasis does not depend on the tumour characteristics but the host's genetic makeup. However, there has been limited success in determining the germline genetic variants that influence metastasis development, mainly because of the limitations of traditional genome-wide association studies to detect the relevant genetic polymorphisms underlying complex phenotypes. In this work, we leveraged the extreme discordant phenotypes approach and the epistasis networks to analyse the genotypes of 97 breast cancer patients. We found that the host's genetic makeup facilitates metastases by the dysregulation of gene expression that can promote the dispersion of metastatic seeds and help establish the metastatic niche-providing a congenial soil for the metastatic seeds.

Published
2022

192. Pathology of Tumors Associated With Pathogenic Germline Variants in 9 Breast Cancer Susceptibility Genes

Author

Breast Cancer Association Consortium, Mavaddat, Nasim, Dorling, Leila, Carvalho, Sara, Allen, Jamie, González-Neira, Anna, Keeman, Renske, Bolla, Manjeet K, Dennis, Joe, Wang, Qin, Ahearn, Thomas U, Andrulis, Irene L, Beckmann, Matthias W, Behrens, Sabine, Benitez, Javier, Bermisheva, Marina, Blomqvist, Carl, Bogdanova, Natalia V, Bojesen, Stig E, Briceno, Ignacio, Brüning, Thomas, Camp, Nicola J, Campbell, Archie, Castelao, Jose E, Chang-Claude, Jenny, Chanock, Stephen J, Chenevix-Trench, Georgia, Christiansen, Hans, Czene, Kamila, Dörk, Thilo, Eriksson, Mikael, Evans, D Gareth, Fasching, Peter A, Figueroa, Jonine D, Flyger, Henrik, Gabrielson, Marike, Gago-Dominguez, Manuela, Geisler, Jürgen, Giles, Graham G, Guénel, Pascal, Hadjisavvas, Andreas, Hahnen, Eric, Hall, Per, Hamann, Ute, Hartikainen, Jaana M, Hartman, Mikael, Hoppe, Reiner, Howell, Anthony, Jakubowska, Anna, Jung, Audrey, Khusnutdinova, Elza K, Kristensen, Vessela N, Li, Jingmei, Lim, Swee Ho, Lindblom, Annika, Loizidou, Maria A, Lophatananon, Artitaya, Lubinski, Jan, Madsen, Michael J, Mannermaa, Arto, Manoochehri, Mehdi, Margolin, Sara, Mavroudis, Dimitrios, Milne, Roger L, Mohd Taib, Nur Aishah, Morra, Anna, Muir, Kenneth, Obi, Nadia, Osorio, Ana, Park-Simon, Tjoung-Won, Peterlongo, Paolo, Radice, Paolo, Saloustros, Emmanouil, Sawyer, Elinor J, Schmutzler, Rita K, Shah, Mitul, Sim, Xueling, Southey, Melissa C, Thorne, Heather, Tomlinson, Ian, Torres, Diana, Truong, Thérèse, Yip, Cheng Har, Spurdle, Amanda B, Vreeswijk, Maaike PG, Dunning, Alison M, García-Closas, Montserrat, Pharoah, Paul DP, Kvist, Anders, Muranen, Taru A, Nevanlinna, Heli, Teo, Soo Hwang, Devilee, Peter, Schmidt, Marjanka K, Easton, Douglas F, Mavaddat, Nasim [0000-0003-0307-055X], Wilson, Leila [0000-0003-1214-8080], Dennis, Joe [0000-0003-4591-1214], Pharoah, Paul [0000-0001-8494-732X], Easton, Douglas [0000-0003-2444-3247], Apollo - University of Cambridge Repository, Medicum, Clinicum, Department of Oncology, HUS Comprehensive Cancer Center, Research Program in Systems Oncology, HUS Gynecology and Obstetrics, Department of Obstetrics and Gynecology, and Biosciences

Subjects
EXPRESSION, Adult, Cancer Research, Adolescent, CHK2, 3122 Cancers, Genes, BRCA2, Breast Neoplasms, SUBTYPES, ACTIVATION, SUBCLASSES, Young Adult, BRCA2 MUTATION CARRIERS, PRIMARY THERAPY, Online First, Humans, Genetic Predisposition to Disease, Germ-Line Mutation, Original Investigation, Aged, MOLECULAR PORTRAITS, Research, INTERNATIONAL EXPERT CONSENSUS, Middle Aged, Germ Cells, Oncology, Case-Control Studies, PALB2, Female, Comments
Abstract

Key Points Question What breast tumor characteristics are associated with rare pathogenic protein truncating or missense variants in breast cancer susceptibility genes? Findings In this case-control study involving 46 387 control participants and 42 680 women with a diagnosis of breast cancer, pathology features (eg, tumor subtype, morphology, size, TNM stage, and lymph node involvement) associated with rare germline (likely) pathogenic variants in 9 different breast cancer susceptibility genes were studied. Substantial differences in tumor subtype distribution by gene were found. Meaning The results of this study suggest that tumor subtypes differ by gene; these findings can potentially inform guidelines for gene panel testing, risk prediction in unaffected individuals, variant classification, and understanding of breast cancer etiology., Importance Rare germline genetic variants in several genes are associated with increased breast cancer (BC) risk, but their precise contributions to different disease subtypes are unclear. This information is relevant to guidelines for gene panel testing and risk prediction. Objective To characterize tumors associated with BC susceptibility genes in large-scale population- or hospital-based studies. Design, Setting, and Participants The multicenter, international case-control analysis of the BRIDGES study included 42 680 patients and 46 387 control participants, comprising women aged 18 to 79 years who were sampled independently of family history from 38 studies. Studies were conducted between 1991 and 2016. Sequencing and analysis took place between 2016 and 2021. Exposures Protein-truncating variants and likely pathogenic missense variants in ATM, BARD1, BRCA1, BRCA2, CHEK2, PALB2, RAD51C, RAD51D, and TP53. Main Outcomes and Measures The intrinsic-like BC subtypes as defined by estrogen receptor, progesterone receptor, and ERBB2 (formerly known as HER2) status, and tumor grade; morphology; size; stage; lymph node involvement; subtype-specific odds ratios (ORs) for carrying protein-truncating variants and pathogenic missense variants in the 9 BC susceptibility genes. Results The mean (SD) ages at interview (control participants) and diagnosis (cases) were 55.1 (11.9) and 55.8 (10.6) years, respectively; all participants were of European or East Asian ethnicity. There was substantial heterogeneity in the distribution of intrinsic subtypes by gene. RAD51C, RAD51D, and BARD1 variants were associated mainly with triple-negative disease (OR, 6.19 [95% CI, 3.17-12.12]; OR, 6.19 [95% CI, 2.99-12.79]; and OR, 10.05 [95% CI, 5.27-19.19], respectively). CHEK2 variants were associated with all subtypes (with ORs ranging from 2.21-3.17) except for triple-negative disease. For ATM variants, the association was strongest for the hormone receptor (HR)+ERBB2− high-grade subtype (OR, 4.99; 95% CI, 3.68-6.76). BRCA1 was associated with increased risk of all subtypes, but the ORs varied widely, being highest for triple-negative disease (OR, 55.32; 95% CI, 40.51-75.55). BRCA2 and PALB2 variants were also associated with triple-negative disease. TP53 variants were most strongly associated with HR+ERBB2+ and HR–ERBB2+ subtypes. Tumors occurring in pathogenic variant carriers were of higher grade. For most genes and subtypes, a decline in ORs was observed with increasing age. Together, the 9 genes were associated with 27.3% of all triple-negative tumors in women 40 years or younger. Conclusions and Relevance The results of this case-control study suggest that variants in the 9 BC risk genes differ substantially in their associated pathology but are generally associated with triple-negative and/or high-grade disease. Knowing the age and tumor subtype distributions associated with individual BC genes can potentially aid guidelines for gene panel testing, risk prediction, and variant classification and guide targeted screening strategies., This case-control study examines tumors associated with breast cancer susceptibility genes in large-scale population- or hospital-based studies.

Published
2022

194. Additional file 1 of Breast cancer risks associated with missense variants in breast cancer susceptibility genes

Author

Dorling, Leila, Carvalho, Sara, Allen, Jamie, Parsons, Michael T., Fortuno, Cristina, González-Neira, Anna, Heijl, Stephan M., Adank, Muriel A., Ahearn, Thomas U., Andrulis, Irene L., Auvinen, Päivi, Becher, Heiko, Beckmann, Matthias W., Behrens, Sabine, Bermisheva, Marina, Bogdanova, Natalia V., Bojesen, Stig E., Bolla, Manjeet K., Bremer, Michael, Briceno, Ignacio, Camp, Nicola J., Campbell, Archie, Castelao, Jose E., Chang-Claude, Jenny, Chanock, Stephen J., Chenevix-Trench, Georgia, Collée, J. Margriet, Czene, Kamila, Dennis, Joe, Dörk, Thilo, Eriksson, Mikael, Evans, D. Gareth, Fasching, Peter A., Figueroa, Jonine, Flyger, Henrik, Gabrielson, Marike, Gago-Dominguez, Manuela, García-Closas, Montserrat, Giles, Graham G., Glendon, Gord, Guénel, Pascal, Gündert, Melanie, Hadjisavvas, Andreas, Hahnen, Eric, Hall, Per, Hamann, Ute, Harkness, Elaine F., Hartman, Mikael, Hogervorst, Frans B. L., Hollestelle, Antoinette, Hoppe, Reiner, Howell, Anthony, Jakubowska, Anna, Jung, Audrey, Khusnutdinova, Elza, Kim, Sung-Won, Ko, Yon-Dschun, Kristensen, Vessela N., Lakeman, Inge M. M., Li, Jingmei, Lindblom, Annika, Loizidou, Maria A., Lophatananon, Artitaya, Lubiński, Jan, Luccarini, Craig, Madsen, Michael J., Mannermaa, Arto, Manoochehri, Mehdi, Margolin, Sara, Mavroudis, Dimitrios, Milne, Roger L., Mohd Taib, Nur Aishah, Muir, Kenneth, Nevanlinna, Heli, Newman, William G., Oosterwijk, Jan C., Park, Sue K., Peterlongo, Paolo, Radice, Paolo, Saloustros, Emmanouil, Sawyer, Elinor J., Schmutzler, Rita K., Shah, Mitul, Sim, Xueling, Southey, Melissa C., Surowy, Harald, Suvanto, Maija, Tomlinson, Ian, Torres, Diana, Truong, Thérèse, van Asperen, Christi J., Waltes, Regina, Wang, Qin, Yang, Xiaohong R., Pharoah, Paul D. P., Schmidt, Marjanka K., Benitez, Javier, Vroling, Bas, Dunning, Alison M., Teo, Soo Hwang, Kvist, Anders, de la Hoya, Miguel, Devilee, Peter, Spurdle, Amanda B., Vreeswijk, Maaike P. G., and Easton, Douglas F.

Subjects
Data_FILES
Abstract

Additional file 1.

Published
2022
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195. Novel genes and sex differences in COVID-19 severity

Author

Cruz, Raquel, Diz-de Almeida, Silvia, López de Heredia, Miguel, Quintela, Inés, Ceballos, Francisco C., Pita, Guillermo, Lorenzo-Salazar, José M, González-Montelongo, Rafaela, Gago-Domínguez, Manuela, Sevilla Porras, Marta, Tenorio Castaño, Jair Antonio, Nevado, Julian, Aguado, Jose María, Aguilar, Carlos, Aguilera-Albesa, Sergio, Almadana, Virginia, Almoguera, Berta, Alvarez, Nuria, Andreu-Bernabeu, Álvaro, Arana-Arri, Eunate, Arango, Celso, Arranz, María J, Artiga, Maria-Jesus, Baptista-Rosas, Raúl C, Barreda-Sánchez, María, Belhassen-Garcia, Moncef, Bezerra, Joao F., Bezerra, Marcos A C, Boix-Palop, Lucía, Brion, María, Brugada, Ramón, Bustos, Matilde, Calderón, Enrique J., Carbonell, Cristina, Castano, Luis, Castelao, Jose E., Conde-Vicente, Rosa, Cordero-Lorenzana, M Lourdes, Cortes-Sanchez, Jose L., Corton, Marta, Darnaude, M Teresa, De Martino-Rodríguez, Alba, Del Campo-Pérez, Victor, Diaz de Bustamante, Aranzazu, Domínguez-Garrido, Elena, Luchessi, Andre D., Eiros, Rocío, Estigarribia Sanabria, Gladys Mercedes, Carmen Fariñas, María, Fernández-Robelo, Uxía, Fernández-Rodríguez, Amanda, Fernández-Villa, Tania, Gil-Fournier, Belén, Gómez-Arrue, Javier, González Álvarez, Beatriz, Gonzalez Bernaldo de Quirós, Fernan, González-Peñas, Javier, Gutiérrez-Bautista, Juan F., Herrero, María José, Herrero-Gonzalez, Antonio, Jimenez-Sousa, María A, Lattig, María Claudia, Liger Borja, Anabel, Lopez-Rodriguez, Rosario, Mancebo, Esther, Martín-López, Caridad, Martín, Vicente, Martinez-Nieto, Oscar, Martinez-Lopez, Iciar, Martinez-Resendez, Michel F., Martinez-Perez, Angel, Mazzeu, Juliana F., Merayo Macías, Eleuterio, Minguez, Pablo, Moreno Cuerda, Victor, Silbiger, Vivian N., Oliveira, Silviene F., Ortega-Paino, Eva, Parellada, Mara, Paz-Artal, Estela, Santos, Ney P C, Pérez-Matute, Patricia, Perez, Patricia, Pérez-Tomás, M Elena, Perucho, Teresa, Pinsach-Abuin, Mel Lina, Pompa-Mera, Ericka N., Porras-Hurtado, Gloria L., Pujol, Aurora, Ramiro León, Soraya, Resino, Salvador, Fernandes, Marianne R., Rodríguez-Ruiz, Emilio, Rodriguez-Artalejo, Fernando, Rodriguez-Garcia, José A, Ruiz Cabello, Francisco, Ruiz-Hornillos, Javier, Ryan, Pablo, Soria, José Manuel, Souto, Juan Carlos, Tamayo, Eduardo, Tamayo-Velasco, Alvaro, Taracido-Fernandez, Juan Carlos, Teper, Alejandro, Torres-Tobar, Lilian, Urioste, Miguel, Valencia-Ramos, Juan, Yáñez, Zuleima, Zarate, Ruth, Nakanishi, Tomoko, Pigazzini, Sara, Degenhardt, Frauke, Butler-Laporte, Guillaume, Maya-Miles, Douglas, Bujanda, Luis, Bouysran, Youssef, Palom, Adriana, Ellinghaus, David, Martínez-Bueno, Manuel, Rolker, Selina, Amitrano, Sara, Roade, Luisa, Fava, Francesca, Spinner, Christoph D., Prati, Daniele, Bernardo, David, Garcia, Federico, Darcis, Gilles, Fernández-Cadenas, Israel, Holter, Jan Cato, Banales, Jesus M., Frithiof, Robert, Duga, Stefano, Asselta, Rosanna, Pereira, Alexandre C., Romero-Gómez, Manuel, Nafría-Jiménez, Beatriz, Hov, Johannes R., Migeotte, Isabelle, Renieri, Alessandra, Planas, Anna M., Ludwig, Kerstin U., Buti, Maria, Rahmouni, Souad, Alarcón-Riquelme, Marta E., Schulte, Eva C., Franke, Andre, Karlsen, Tom H., Valenti, Luca, Zeberg, Hugo, Richards, Brent, Ganna, Andrea, Boada, Mercè, de Rojas, Itziar, Ruiz, Agustín, Sánchez-Juan, Pascual, Real, Luis Miguel, Guillen-Navarro, Encarna, Ayuso, Carmen, González-Neira, Anna, Riancho, José A, Rojas-Martinez, Augusto, Flores, Carlos, Lapunzina, Pablo, Carracedo, Angel, 0000-0002-6964-8898, 0000-0001-7463-2148, 0000-0002-3166-5086, 0000-0003-1374-0756, 0000-0001-9510-5646, 0000-0001-7516-3179, 0000-0001-5388-0396, 0000-0002-3875-5367, 0000-0003-3818-0871, 0000-0002-8541-2519, 0000-0003-3765-6778, Institut Català de la Salut, [Cruz R] Centro Nacional de Genotipado (CEGEN), Universidade de Santiago de Compostela, Santiago de Compostela, Spain. Centre for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain. Instituto de Investigación Sanitaria de Santiago (IDIS), Santiago de Compostela, Spain. Centro Singular de Investigación en Medicina Molecular y Enfermedades Crónicas (CIMUS), Universidade de Santiago de Compostela, Santiago de Compostela, Spain. [Diz-de Almeida S] Centro Singular de Investigación en Medicina Molecular y Enfermedades Crónicas (CIMUS), Universidade de Santiago de Compostela, Santiago de Compostela, Spain. [López de Heredia M] Centre for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain. [Quintela I] Centro Nacional de Genotipado (CEGEN), Universidade de Santiago de Compostela, Santiago de Compostela, Spain. [Ceballos FC] Unidad de Infección Viral e Inmunidad, Centro Nacional de Microbiología (CNM), Instituto de Salud Carlos III (ISCIII), Madrid, Spain. [Pita G] Spanish National Cancer Research Centre, Human Genotyping-CEGEN Unit, Madrid, Spain. [Palom A] Unitat Hepàtica, Servei de Medicina Interna, Vall d’Hebron Hospital Universitari, Barcelona, Spain. Departament de Medicina, Universitat Autònoma de Barcelona, Bellaterra, Spain. Grup de Recerca de les Malalties Hepàtiques, Vall d’Hebron Institut de Recerca (VHIR), Barcelona, Spain. [Buti M] Centre for Biomedical Network Research on Hepatic and Digestive Diseases (CIBEREHD), Instituto de Salud Carlos III, Madrid, Spain. Unitat Hepàtica, Servei de Medicina Interna, Vall d’Hebron Hospital Universitari, Barcelona, Spain. Departament de Medicina, Universitat Autònoma de Barcelona, Bellaterra, Spain, Vall d'Hebron Barcelona Hospital Campus, Universidad de Cantabria, SCOURGE Cohort Group, HOSTAGE Cohort Group, GRA@CE Cohort Group, Instituto de Salud Carlos III, Unión Europea. Fondo Europeo de Desarrollo Regional (FEDER/ERDF), Fundación Amancio Ortega, Banco Santander, Estrella de Levante, Fundación La Caixa, Agencia Estatal de Investigación (España), Cabildo Insular de Tenerife (España), Fundación Canaria de Investigación Sanitaria, Institute for Molecular Medicine Finland, University of Helsinki, Data Science Genetic Epidemiology Lab, European Commission, Colabora Mujer, Fundación Canaria Instituto de Investigación Sanitaria de Canarias, and Gobierno de Canarias (España)

Subjects
INTERFERON, EXPRESSION, Male, Settore MED/09 - Medicina Interna, COVID-19 (Malaltia) - Aspectes genètics, GENETICS, Genetic Phenomena::Genotype::Genetic Predisposition to Disease [PHENOMENA AND PROCESSES], Diàtesi, AUTOZYGOSITY, Polymorphism, Single Nucleotide, fenómenos fisiológicos reproductivos y urinarios::fenómenos fisiológicos de la reproducción::características sexuales [FENÓMENOS Y PROCESOS], Genetics, virosis::infecciones por virus ARN::infecciones por Nidovirales::infecciones por Coronaviridae::infecciones por Coronavirus [ENFERMEDADES], Humans, Genetic Predisposition to Disease, HOMOZYGOSITY, Reproductive and Urinary Physiological Phenomena::Reproductive Physiological Phenomena::Sex Characteristics [PHENOMENA AND PROCESSES], Molecular Biology, Genetics (clinical), Malalties - Factors sexuals, fenómenos genéticos::genotipo::predisposición genética a la enfermedad [FENÓMENOS Y PROCESOS], Sex Characteristics, RANGE, ANDROGEN RECEPTOR, COVID-19, RUNS, Virus Diseases::RNA Virus Infections::Nidovirales Infections::Coronaviridae Infections::Coronavirus Infections [DISEASES], ASSOCIATION, General Medicine, Middle Aged, Genetic Loci, 1182 Biochemistry, cell and molecular biology, Female, LUNG, Genome-Wide Association Study
Abstract

Here, we describe the results of a genome-wide study conducted in 11939 coronavirus disease 2019 (COVID-19) positive cases with an extensive clinical information that were recruited from 34 hospitals across Spain (SCOURGE consortium). In sex-disaggregated genome-wide association studies for COVID-19 hospitalization, genome-wide significance (P= 60 years) among males than among females. Parallel genome-wide screening of inbreeding depression in SCOURGE also showed an effect of homozygosity in COVID-19 hospitalization and severity and this effect was stronger among older males. In summary, new candidate genes for COVID-19 severity and evidence supporting genetic disparities among sexes are provided., Instituto de Salud Carlos III European Commission COV20_00622 COV20/00792 COV20_00181 COV20_1144 PI20/00876, European Union (ERDF) 'A way of making Europe', Fundacion Amancio Ortega, Banco de Santander, Estrella de Levante S.A., Colabora Mujer Association, La Caixa Foundation, Agencia Estatal de Investigacion RTC-2017-6471-1, Cabildo Insular de Tenerife (Apuestas cientificas del ITER para colaborar en la lucha contra la COVID-19) CGIEU0000219140, Fundacion Canaria Instituto de Investigacion Sanitaria de Canarias PIFIISC20/57

Published
2022

196. Height and Breast Cancer Risk: Evidence From Prospective Studies and Mendelian Randomization

Author

Zhang, Ben, Shu, Xiao-Ou, Delahanty, Ryan J., Zeng, Chenjie, Michailidou, Kyriaki, Bolla, Manjeet K., Wang, Qin, Dennis, Joe, Wen, Wanqing, Long, Jirong, Li, Chun, Dunning, Alison M., Chang-Claude, Jenny, Shah, Mitul, Perkins, Barbara J., Czene, Kamila, Darabi, Hatef, Eriksson, Mikael, Bojesen, Stig E., Nordestgaard, Børge G., Nielsen, Sune F., Flyger, Henrik, Lambrechts, Diether, Neven, Patrick, Wildiers, Hans, Floris, Giuseppe, Schmidt, Marjanka K., Rookus, Matti A., van den Hurk, Katja, de Kort, Wim L. A. M., Couch, Fergus J., Olson, Janet E., Hallberg, Emily, Vachon, Celine, Rudolph, Anja, Seibold, Petra, Flesch-Janys, Dieter, Peto, Julian, dos-Santos-Silva, Isabel, Fletcher, Olivia, Johnson, Nichola, Nevanlinna, Heli, Muranen, Taru A., Aittomäki, Kristiina, Blomqvist, Carl, Li, Jingmei, Humphreys, Keith, Brand, Judith, Guénel, Pascal, Truong, Thérèse, Cordina-Duverger, Emilie, Menegaux, Florence, Burwinkel, Barbara, Marme, Frederik, Yang, Rongxi, Surowy, Harald, Benitez, Javier, Zamora, M. Pilar, Perez, Jose I. A., Cox, Angela, Cross, Simon S., Reed, Malcolm W. R., Andrulis, Irene L., Knight, Julia A., Glendon, Gord, Tchatchou, Sandrine, Sawyer, Elinor J., Tomlinson, Ian, Kerin, Michael J., Miller, Nicola, Chenevix-Trench, Georgia, Haiman, Christopher A., Henderson, Brian E., Schumacher, Fredrick, Marchand, Loic Le, Lindblom, Annika, Margolin, Sara, Hooning, Maartje J., Martens, John W. M., Tilanus-Linthorst, Madeleine M. A., Collée, J. Margriet, Hopper, John L., Southey, Melissa C., Tsimiklis, Helen, Apicella, Carmel, Slager, Susan, Toland, Amanda E., Ambrosone, Christine B., Yannoukakos, Drakoulis, Giles, Graham G., Milne, Roger L., McLean, Catriona, Fasching, Peter A., Haeberle, Lothar, Ekici, Arif B., Beckmann, Matthias W., Brenner, Hermann, Dieffenbach, Aida Karina, Arndt, Volker, Stegmaier, Christa, Swerdlow, Anthony J., Ashworth, Alan, Orr, Nick, Jones, Michael, Figueroa, Jonine, Garcia-Closas, Montserrat, Brinton, Louise, Lissowska, Jolanta, Dumont, Martine, Winqvist, Robert, Pylkäs, Katri, Jukkola-Vuorinen, Arja, Grip, Mervi, Brauch, Hiltrud, Brüning, Thomas, Ko, Yon-Dschun, Peterlongo, Paolo, Manoukian, Siranoush, Bonanni, Bernardo, Radice, Paolo, Bogdanova, Natalia, Antonenkova, Natalia, Dörk, Thilo, Mannermaa, Arto, Kataja, Vesa, Kosma, Veli-Matti, Hartikainen, Jaana M., Devilee, Peter, Seynaeve, Caroline, Van Asperen, Christi J., Jakubowska, Anna, Lubiński, Jan, Jaworska-Bieniek, Katarzyna, Durda, Katarzyna, Hamann, Ute, Torres, Diana, Schmutzler, Rita K., Neuhausen, Susan L., Anton-Culver, Hoda, Kristensen, Vessela N., Grenaker Alnæs, Grethe I., Pierce, Brandon L., Kraft, Peter, Peters, Ulrike, Lindstrom, Sara, Seminara, Daniela, Burgess, Stephen, Ahsan, Habibul, Whittemore, Alice S., John, Esther M., Gammon, Marilie D., Malone, Kathleen E., Tessier, Daniel C., Vincent, Daniel, Bacot, Francois, Luccarini, Craig, Baynes, Caroline, Ahmed, Shahana, Maranian, Mel, Healey, Catherine S., González-Neira, Anna, Pita, Guillermo, Alonso, M. Rosario, Álvarez, Nuria, Herrero, Daniel, Pharoah, Paul D. P., Simard, Jacques, Hall, Per, Hunter, David J., Easton, Douglas F., and Zheng, Wei

Published
2015
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200. Sistema de avaliação de habilidades psicomotoras em cirurgiões de laparoscopia

Author

Camilo Andrés Barrera Álvarez, Juan David Salamanca Santos, Eliana María González-Neira, Daniel R. Suárez, and Saúl Rúgeles

Subjects
Laparoscopia, Cirurgia laparoscópica, Cirurgia minimamente invasiva, Avaliação, Treinamento, Simulação, Medicine, Medicine (General), R5-920
Abstract

Objetivo: este estudo tem como objetivo desenhar e validar um sistema de avaliação objetiva e prática de habilidade psicomotoras em laparoscopia que permita discriminar o nível de competência dos cirurgiões. Metodologia: O estudo foi levado a cabo no Centro de Simulação Clínica da Universidad Javeriana onde voluntariamente participaram 6 cirurgiões expertos, 6 residentes de cirurgia e 6 estudantes de medicina. Cada participante realizou uma avaliação composta por oito atividades em simuladores de caixa com instrumental regular de laparoscopia. Os resultados obtidos pelos três grupos de participantes foram analisados através de um ANOVA e um teste de Tukey. Adicionalmente, realizou-se uma análise de validez por fontes de evidência e a fiabilidade do sistema de avaliação valorou-se empregando uma análise de Alpha de Cronbach. Resultados: três atividades avaliativas discriminaram os três grupos de estudo ou níveis de competência (novato, intermédio e experto), e outras duas atividades discriminaram dois dos grupos. A validez do sistema de avaliação foi comprovada ao considerar o conteúdo, a resposta do processo, a estrutura interna e as consequências da avaliação. A fiabilidade do sistema de avaliação foi sobressalente (Alpha de Cronbach=0,90). Conclusão: O sistema de avaliação proposto é uma ferramenta viável em processos de formação de cirurgiões que permite complementar o método tradicional de avaliação de médicos cirurgiões.

Published
2016
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