541 results on '"A Caldés"'
Number of results to display per page
Search Results
2. Analysis of the preparedness for the Covid-19 pandemic in the rural areas of the Bolivian Chaco
- Author
-
Daria Bucci, Vieri Lastrucci, Francesco Cosmi, Carlo Signorelli, and Maria Caldés
- Subjects
Health (social science) ,Epidemiology ,Health Policy ,Public Health, Environmental and Occupational Health ,Medicine (miscellaneous) ,Health Informatics - Published
- 2023
- Full Text
- View/download PDF
3. The impact of the disruption of the seasonal chemoprevention services on the malaria epidemic in senegalese children: a study in the Sédhiou and Kolda regions
- Author
-
Giorgia Alderotti, Vieri Lastrucci, Carlotta Carboni, Lorenzo Stacchini, Primo Buscemi, Amadou Camara, Mansour Faye, Omar Sagna, Adama Faye, Ibrahima Seck, and Maria Caldés
- Subjects
Health (social science) ,Epidemiology ,Health Policy ,Public Health, Environmental and Occupational Health ,Medicine (miscellaneous) ,Health Informatics - Published
- 2023
- Full Text
- View/download PDF
4. Health literacy and COVID-19 in migrants: Results from the sprint2 project
- Author
-
Patrizio Zanobini, Chiara Lorini, Giovanna Tizzi, Maria Caldés Pinilla, and Guglielmo Bonaccorsi
- Subjects
Health (social science) ,Epidemiology ,Health Policy ,Public Health, Environmental and Occupational Health ,Medicine (miscellaneous) ,Health Informatics - Published
- 2023
- Full Text
- View/download PDF
5. Supplementary Figures and Table from BRIP1, a Gene Potentially Implicated in Familial Colorectal Cancer Type X
- Author
-
Trinidad Caldés, Sergi Castellví-Bel, Miguel de la Hoya, Clara Esteban-Jurado, María Luisa González-Morales, Vanesa García-Barberan, Inmaculada Bando, Patricia Llovet, Marta Cazorla, Víctor Lorca, Pilar Garre, and Lorena Martín-Morales
- Abstract
Supplementary data include a table with the primer sequences and three figures showing the validation and segregation study of the families carrying the BRIP1 variants.
- Published
- 2023
- Full Text
- View/download PDF
6. Supplementary table 1 from Nectin-2 Expression on Malignant Plasma Cells Is Associated with Better Response to TIGIT Blockade in Multiple Myeloma
- Author
-
Carlos Fernández de Larrea, Laura Rosiñol, Aleix Prat, Joan Bladé, Maria Teresa Cibeira, Aina Oliver-Caldés, Luis-Gerardo Rodríguez-Lobato, Sheila León, Beatriz Martin-Antonio, Tania Díaz, Mari-Pau Mena, and Ester Lozano
- Abstract
Supplementary Table S1. Clinical and lab patient characteristics
- Published
- 2023
- Full Text
- View/download PDF
7. Supplementary Methods from Nectin-2 Expression on Malignant Plasma Cells Is Associated with Better Response to TIGIT Blockade in Multiple Myeloma
- Author
-
Carlos Fernández de Larrea, Laura Rosiñol, Aleix Prat, Joan Bladé, Maria Teresa Cibeira, Aina Oliver-Caldés, Luis-Gerardo Rodríguez-Lobato, Sheila León, Beatriz Martin-Antonio, Tania Díaz, Mari-Pau Mena, and Ester Lozano
- Abstract
Supplementary Methods
- Published
- 2023
- Full Text
- View/download PDF
8. Supplementary table 2 from Nectin-2 Expression on Malignant Plasma Cells Is Associated with Better Response to TIGIT Blockade in Multiple Myeloma
- Author
-
Carlos Fernández de Larrea, Laura Rosiñol, Aleix Prat, Joan Bladé, Maria Teresa Cibeira, Aina Oliver-Caldés, Luis-Gerardo Rodríguez-Lobato, Sheila León, Beatriz Martin-Antonio, Tania Díaz, Mari-Pau Mena, and Ester Lozano
- Abstract
Supplementary Table S2. Gene expression analysis of CD138- BM cells from 12 patients with MM by using nanostring technology.
- Published
- 2023
- Full Text
- View/download PDF
9. Supplementary fig 2 from Nectin-2 Expression on Malignant Plasma Cells Is Associated with Better Response to TIGIT Blockade in Multiple Myeloma
- Author
-
Carlos Fernández de Larrea, Laura Rosiñol, Aleix Prat, Joan Bladé, Maria Teresa Cibeira, Aina Oliver-Caldés, Luis-Gerardo Rodríguez-Lobato, Sheila León, Beatriz Martin-Antonio, Tania Díaz, Mari-Pau Mena, and Ester Lozano
- Abstract
Supplementary Figure S2. Frequencies of CD3+CD4+CD127lowCD25high T cells in the BM. (A) Representative dot plots of CD127lowCD25high T cells gating on CD3+CD4+ in the BM of responder and non-responder patient to TIGIT blockade (B) Summarized data showing that responders had a significant lower percentage of CD3+CD4+CD127lowCD25high T cells than non-responders (n=5 vs. n=7 Mann Whitney test p=0.017).
- Published
- 2023
- Full Text
- View/download PDF
10. Supplementary fig 1 from Nectin-2 Expression on Malignant Plasma Cells Is Associated with Better Response to TIGIT Blockade in Multiple Myeloma
- Author
-
Carlos Fernández de Larrea, Laura Rosiñol, Aleix Prat, Joan Bladé, Maria Teresa Cibeira, Aina Oliver-Caldés, Luis-Gerardo Rodríguez-Lobato, Sheila León, Beatriz Martin-Antonio, Tania Díaz, Mari-Pau Mena, and Ester Lozano
- Abstract
Supplementary Figure S1. Frequencies of TIGIT+ BM cells in patients with MM at different stages of disease. (A) Percentage of TIGIT+ CD4+ T cells, TIGIT+ CD8+ T cells and NK cells as a frequency of total BM cells. Kruskal Wallis test followed by Dunn's multiple comparison tests *p
- Published
- 2023
- Full Text
- View/download PDF
11. Supplementary Legend from Nectin-2 Expression on Malignant Plasma Cells Is Associated with Better Response to TIGIT Blockade in Multiple Myeloma
- Author
-
Carlos Fernández de Larrea, Laura Rosiñol, Aleix Prat, Joan Bladé, Maria Teresa Cibeira, Aina Oliver-Caldés, Luis-Gerardo Rodríguez-Lobato, Sheila León, Beatriz Martin-Antonio, Tania Díaz, Mari-Pau Mena, and Ester Lozano
- Abstract
Supplementary Legend
- Published
- 2023
- Full Text
- View/download PDF
12. Data from Analysis of the Oxidative Damage Repair Genes NUDT1, OGG1, and MUTYH in Patients from Mismatch Repair Proficient HNPCC Families (MSS-HNPCC)
- Author
-
Trinidad Caldés, Xavier Llor, Eduardo Díaz-Rubio, Javier Puente, Paula Pescador, Patricia Llovet, Julián Sanz, Miguel de la Hoya, Brian J. Doyle, Rosa M. Xicola, Verónica Briceño, and Pilar Garre
- Abstract
Purpose: Several studies have described molecular differences between microsatellite stable hereditary nonpolyposis colorectal cancer (MSS-HNPCC) and microsatellite unstable Lynch syndrome tumors (MSI-HNPCC). These differences highlight the possibility that other instability forms could explain cancer susceptibility in this group of families.The base excision repair (BER) pathway is the major DNA repair pathway for oxidative DNA damage. A defect in this pathway can result in DNA transversion mutations and a subsequent increased cancer risk. Mutations in MUTYH have been associated with increased colorectal cancer (CRC) risk while no association has been described for OGG1 or NUDT1.Experimental Design: We performed mutational screening of the three genes involved in defense against oxidative DNA damage in a set of 42 MSS-HNPCC families.Results: Eight rare variants and 5 frequent variants were found in MSS-HNPCC patients. All variants were previously described by other authors except variant c.285C>T in OGG1. Segregation studies were done and in silico programs were used to estimate the level of amino acid conservation, protein damage prediction, and possible splicing alterations. Variants OGG1 c.137G>A; MUTYH c.1187G>A were detected in Amsterdam I families and cosegregate with cancer. Analysis of OGG1 c.137G>A transcripts showed an inactivation of the splicing donor of exon 1.Conclusions: Two rare variants (OGG1 c.137G>A; MUTYH c.1187G>A) and one common polymorphism (NUDT1 c.426C>T) were associated with CRC risk. We show that the BER pathway can play a significant role in a number of MSS-HNPCC colorectal cancers. More studies could be of interest in order to gain further understanding of yet unexplained CRC susceptibility cases. Clin Cancer Res; 17(7); 1701–12. ©2011 AACR.
- Published
- 2023
- Full Text
- View/download PDF
13. Data from MLH1 Founder Mutations with Moderate Penetrance in Spanish Lynch Syndrome Families
- Author
-
Gabriel Capellá, Conxi Lázaro, Bhramar Mukherjee, Noah A. Rosenberg, Stephen B. Gruber, Víctor Moreno, Sara González, Ángel Lanas, Ángel Alonso, Sergi Castellví-Bel, Lucía Pérez-Cabornero, Judit Sanz, Teresa Ramón y Cajal, Asunción Torres, Judith Balmaña, Joan Brunet, Cristina Martínez-Bouzas, Miguel Urioste, Trinidad Caldés, Àlex Teulé, Fei Wang, Ethan M. Jewett, Ignacio Blanco, Marta Pineda, and Ester Borràs
- Abstract
The variants c.306+5G>A and c.1865T>A (p.Leu622His) of the DNA repair gene MLH1 occur frequently in Spanish Lynch syndrome families. To understand their ancestral history and clinical effect, we performed functional assays and a penetrance analysis and studied their genetic and geographic origins. Detailed family histories were taken from 29 carrier families. Functional analysis included in silico and in vitro assays at the RNA and protein levels. Penetrance was calculated using a modified segregation analysis adjusted for ascertainment. Founder effects were evaluated by haplotype analysis. The identified MLH1 c.306+5G>A and c.1865T>A (p.Leu622His) variants are absent in control populations and segregate with the disease. Tumors from carriers of both variants show microsatellite instability and loss of expression of the MLH1 protein. The c.306+5G>A variant is a pathogenic mutation affecting mRNA processing. The c.1865T>A (p.Leu622His) variant causes defects in MLH1 expression and stability. For both mutations, the estimated penetrance is moderate (age-cumulative colorectal cancer risk by age 70 of 20.1% and 14.1% for c.306+5G>A and of 6.8% and 7.3% for c.1865T>A in men and women carriers, respectively) in the lower range of variability estimated for other pathogenic Spanish MLH1 mutations. A common haplotype was associated with each of the identified mutations, confirming their founder origin. The ages of c.306+5G>A and c.1865T>A mutations were estimated to be 53 to 122 and 12 to 22 generations, respectively. Our results confirm the pathogenicity, moderate penetrance, and founder origin of the MLH1 c.306+5G>A and c.1865T>A mutations. These findings have important implications for genetic counseling and molecular diagnosis of Lynch syndrome. Cancer Res; 70(19); 7379–91. ©2010 AACR.
- Published
- 2023
- Full Text
- View/download PDF
14. Supplementary Table 1 from MLH1 Founder Mutations with Moderate Penetrance in Spanish Lynch Syndrome Families
- Author
-
Gabriel Capellá, Conxi Lázaro, Bhramar Mukherjee, Noah A. Rosenberg, Stephen B. Gruber, Víctor Moreno, Sara González, Ángel Lanas, Ángel Alonso, Sergi Castellví-Bel, Lucía Pérez-Cabornero, Judit Sanz, Teresa Ramón y Cajal, Asunción Torres, Judith Balmaña, Joan Brunet, Cristina Martínez-Bouzas, Miguel Urioste, Trinidad Caldés, Àlex Teulé, Fei Wang, Ethan M. Jewett, Ignacio Blanco, Marta Pineda, and Ester Borràs
- Abstract
Supplementary Table 1 from MLH1 Founder Mutations with Moderate Penetrance in Spanish Lynch Syndrome Families
- Published
- 2023
- Full Text
- View/download PDF
15. Supplementary Figure 1 from MLH1 Founder Mutations with Moderate Penetrance in Spanish Lynch Syndrome Families
- Author
-
Gabriel Capellá, Conxi Lázaro, Bhramar Mukherjee, Noah A. Rosenberg, Stephen B. Gruber, Víctor Moreno, Sara González, Ángel Lanas, Ángel Alonso, Sergi Castellví-Bel, Lucía Pérez-Cabornero, Judit Sanz, Teresa Ramón y Cajal, Asunción Torres, Judith Balmaña, Joan Brunet, Cristina Martínez-Bouzas, Miguel Urioste, Trinidad Caldés, Àlex Teulé, Fei Wang, Ethan M. Jewett, Ignacio Blanco, Marta Pineda, and Ester Borràs
- Abstract
Supplementary Figure 1 from MLH1 Founder Mutations with Moderate Penetrance in Spanish Lynch Syndrome Families
- Published
- 2023
- Full Text
- View/download PDF
16. Supplementary Table 2 from MLH1 Founder Mutations with Moderate Penetrance in Spanish Lynch Syndrome Families
- Author
-
Gabriel Capellá, Conxi Lázaro, Bhramar Mukherjee, Noah A. Rosenberg, Stephen B. Gruber, Víctor Moreno, Sara González, Ángel Lanas, Ángel Alonso, Sergi Castellví-Bel, Lucía Pérez-Cabornero, Judit Sanz, Teresa Ramón y Cajal, Asunción Torres, Judith Balmaña, Joan Brunet, Cristina Martínez-Bouzas, Miguel Urioste, Trinidad Caldés, Àlex Teulé, Fei Wang, Ethan M. Jewett, Ignacio Blanco, Marta Pineda, and Ester Borràs
- Abstract
Supplementary Table 2 from MLH1 Founder Mutations with Moderate Penetrance in Spanish Lynch Syndrome Families
- Published
- 2023
- Full Text
- View/download PDF
17. Supplementary Methods from MLH1 Founder Mutations with Moderate Penetrance in Spanish Lynch Syndrome Families
- Author
-
Gabriel Capellá, Conxi Lázaro, Bhramar Mukherjee, Noah A. Rosenberg, Stephen B. Gruber, Víctor Moreno, Sara González, Ángel Lanas, Ángel Alonso, Sergi Castellví-Bel, Lucía Pérez-Cabornero, Judit Sanz, Teresa Ramón y Cajal, Asunción Torres, Judith Balmaña, Joan Brunet, Cristina Martínez-Bouzas, Miguel Urioste, Trinidad Caldés, Àlex Teulé, Fei Wang, Ethan M. Jewett, Ignacio Blanco, Marta Pineda, and Ester Borràs
- Abstract
Supplementary Methods from MLH1 Founder Mutations with Moderate Penetrance in Spanish Lynch Syndrome Families
- Published
- 2023
- Full Text
- View/download PDF
18. Fusion plasmid carrying the colistin resistance gene mcr of Escherichia coli isolated from healthy residents
- Author
-
Hoa Thi Thanh Hoang, Ayano Higashi, Takahiro Yamaguchi, Ryuji Kawahara, Manuel Calvopina, Andres Bastidas-Caldés, Mayumi Yamamoto, and Yoshimasa Yamamoto
- Subjects
Microbiology (medical) ,Colistin ,Escherichia coli Proteins ,Drug Resistance, Bacterial ,Immunology ,Escherichia coli ,Humans ,Immunology and Allergy ,Microbiology ,Escherichia coli Infections ,Plasmids - Abstract
The extensive spread of colistin resistance represents an enormous concern to infectious disease treatment, because colistin is one of the few effective antibiotics against multidrug-resistant bacterial infections, including carbapenem-resistant bacteria. This dissemination can be caused by plasmid transfer containing the colistin resistance gene mcr. Therefore, the plasmid host range affects horizontal gene transfer. This study reports a fusion plasmid of different incompatibility types, which could easily expand the plasmid host range, allowing widespread mcr prevalence in the microbial community.Genome sequences of colistin-resistant Escherichia coli isolates from stool specimens of healthy human residents in Ecuador were determined using the DNBSEQ and MinION platforms. Hybrid genome assembly was performed using Unicycler, and the genomes were annotated using DFAST. Genome analysis was performed using the Geneious Prime software.Two colistin-resistant E. coli strains isolated separately from different residents presented mcr-carrying plasmids with fused different incompatibility types, IncFIA, IncHIIA, and IncHIIB. The phylogenies of these host bacteria were different. The sizes of the mcr-carrying fusion plasmids pLR-06 and pLR-50 with the full Tn6330 mcr-transposon were 260 Kbp and 198 Kbp, respectively. Both fusion plasmids possessed other resistance genes, including tet(B), tet(M), blaThis is the first report of a fusion plasmid comprising different incompatibility types with mcr from colistin-resistant E. coli strains isolated from community residents. The mcr fusion plasmid may play a crucial role in achieving horizontal mcr transmission and the evolution of the multidrug resistance plasmid among hosts.
- Published
- 2022
- Full Text
- View/download PDF
19. The predictive ability of the 313 variant–based polygenic risk score for contralateral breast cancer risk prediction in women of European ancestry with a heterozygous BRCA1 or BRCA2 pathogenic variant
- Author
-
Lakeman, Inge M. M., Van Den Broek, Alexandra J., Vos, Juliën A. M., Barnes, Daniel R., Adlard, Julian, Andrulis, Irene L., Arason, Adalgeir, Arnold, Norbert, Arun, Banu K., Balmaña, Judith, Barrowdale, Daniel, Giraud, Sophie, Golmard, Lisa, Hake, Christopher R., Houdayer, Claude, Risch, Harvey A., Lasset, Christine, Laurent, Maïté, Spurdle, Amanda B., Hooning, Maartje J., Hopper, John L., Kets, Carolien M., Leroux, Dominique, Longy, Michel, Mari, Véronique, Mazoyer, Sylvie, Mebirouk, Noura, Mortemousque, Isabelle, Blok, Marinus J., Prieur, Fabienne, Hamann, Ute, Pujol, Pascal, Konstantopoulou, Irene, Heemskerk Gerritsen, Bernadette A. M., Isaacs, Claudine, Saule, Claire, Piedmonte, Marion, Schuster, Helene, Sevenet, Nicolas, Sobol, Hagay, Sokolowska, Johanna, Gómez Garcia, Encarna B., Venat Bouvet, Laurence, Claes, Kathleen B. M., Ahmed, Munaza, Teixeira, Manuel R., Barwell, Julian, Brady, Angela, Izatt, Louise, Hogervorst, Frans B. L., Brennan, Paul, Harrington, Patricia A., Henderson, Alex, Hodgson, Shirley, Kwong, Ava, Borg, Ake, Kennedy, M. John, Porteous, Mary E., Rogers, Mark T., Side, Lucy E., Snape, Katie, Walker, Lisa, Collée, J. Margriet, Jakubowska, Anna, Couch, Fergus J., Hahnen, Eric, Daly, Mary B., Dennis, Joe, Teo, Soo Hwang, Jensen, Uffe Birk, Rantala, Johanna, Dhawan, Mallika, Benitez, Javier, Domchek, Susan M., Eeles, Ros, Engel, Christoph, Legrand, Clémentine, Evans, D. Gareth, James, Paul A., Feliubadaló i Elorza, Maria Lídia, Teulé-Vega, Àlex, Foretova, Lenka, Castera, Laurent, Friedman, Eitan, Frost, Debra, Rennert, Gad, Ganz, Patricia A., Leslie, Goska, Garber, Judy, Hulick, Peter J., Imyanitov, Evgeny N., Glendon, Gord, Thomassen, Mads, Janavicius, Ramunas, Mulligan, Anna Marie, Hollestelle, Antoinette, Jager, Agnes, Koppert, Linetta B., Cook, Jackie, Koudijs, Marco, Kriege, Mieke, Meijers Heijboer, Hanne E. J., Schmutzler, Rita K., Mensenkamp, Arjen R., Dunning, Alison M., Mooij, Thea M., Oosterwijk, Jan C., Caux Moncoutier, Virginie, Singer, Christian F., Berthet, Pascaline, Caldés, Trinidad, Van den Ouweland, Ans M. W., Van der Baan, Frederieke H., Van der Hout, Annemieke H., Van der Kolk, Lizet E., Van der Luijt, Rob B., Thull, Darcy L., Van Deurzen, Carolien H. M., Sharma, Priyanka, Van Doorn, Helena C., Bignon, Yves Jean, Colas, Chrystelle, Van Engelen, Klaartje, Brewer, Carole, Van Hest, Liselotte P., Van Os, Theo A. M., Caligo, Maria A., Verhoef, Senno, Tischkowitz, Marc, Vogel, Maartje J., Wijnen, Juul T., Lalloo, Fiona, Beesley, Jonathan, Fox, Stephen, Collonge Rame, Marie Agnès, Simard, Jacques, Holland, Helene, Jiao, Yue, John, Esther M., Joseph, Vijai, Gerdes, Anne Marie, Karlan, Beth Y., Lesueur, Fabienne, Loud, Jennifer T., Lubiński, Jan, Manoukian, Siranoush, Mcguffog, Lesley, Miller, Austin, Coupier, Isabelle, Gomes, Denise Molina, Barouk Simonet, Emmanuelle, Montagna, Marco, Miller, Clare, Elan, Camille, Davidson, Rosemarie, Mouret Fourme, Emmanuelle, Gayther, Simon A., Nathanson, Katherine L., Neuhausen, Susan L., Nevanlinna, Heli, Yie, Joanne Ngeow Yuen, Pauw, Antoine de, Olah, Edith, Morrison, Patrick J., Olopade, Olufunmilayo I., Van Asperen, Christi J., Park, Sue K., Parsons, Michael T., Donaldson, Alan, Belotti, Muriel, Peterlongo, Paolo, Stadler, Zsofia, Stoppa Lyonnet, Dominique, Sutter, Christian, Ong, Kai Ren, Delnatte, Capucine, Tan, Yen Yen, Toland, Amanda E., Tung, Nadine, Van Rensburg, Elizabeth J., Vega, Ana, Wappenschmidt, Barbara, Devilee, Peter, Eason, Jacqueline, Chung, Wendy K., Bernstein, Jonine L., Offit, Kenneth, Aalfs, Cora M., Hanson, Helen, Godwin, Andrew K., Easton, Douglas F., Bonadona, Valérie, Rookus, Matti A., Chenevix-Trench, Georgia, Antoniou, Antonis C., O’shaughnessy Kirwan, Aoife, Robson, Mark, Eccles, Diana M., Schmidt, Marjanka K., Adank, Muriel A., Gemo Study Collaborators, Phillips, Kelly Anne, Embrace Collaborators, Ocgn Investigators, Goldgar, David E., Hebon Investigators, Perkins, Jo, Kconfab Investigators, Bressac de Paillerets, Brigitte, Buecher, Bruno, Caputo, Sandrine, Ausems, Margreet G. E. M., Gregory, Helen, Caron, Olivier, Faivre, Laurence, Fert Ferrer, Sandra, Gauthier Villars, Marion, Radice, Paolo, Gesta, Paul, Clinical Genetics, Medical Oncology, Surgery, Pathology, Gynecological Oncology, Schmidt, Marjanka K. [0000-0002-2228-429X], Apollo - University of Cambridge Repository, Targeted Gynaecologic Oncology (TARGON), Damage and Repair in Cancer Development and Cancer Treatment (DARE), Schmidt, Marjanka K [0000-0002-2228-429X], HUS Gynecology and Obstetrics, Department of Obstetrics and Gynecology, Institut Català de la Salut, [Lakeman IMM] Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands. Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands. [van den Broek AJ, Vos JAM] Division of Molecular Pathology, The Netherlands Cancer Institute–Antoni van Leeuwenhoek Hospital, Amsterdam, The Netherlands. [Barnes DR] Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK. [Adlard J] Yorkshire Regional Genetics Service, Chapel Allerton Hospital, Leeds, UK. [Andrulis IL] Fred A. Litwin Center for Cancer Genetics, Lunenfeld-Tanenbaum Research Institute of Mount Sinai Hospital, Toronto, ON, Canada. Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada. [Balmaña J] Hereditary cancer Genetics Group, Vall d’Hebron Institute of Oncology (VHIO), Barcelona, Spain. Servei d’Oncologia Mèdica, Vall d’Hebron Hospital Universitari, Barcelona, Spain, Vall d'Hebron Barcelona Hospital Campus, Pediatric surgery, Human genetics, Amsterdam Neuroscience - Complex Trait Genetics, CCA - Cancer biology and immunology, Epidemiology and Data Science, Human Genetics, ARD - Amsterdam Reproduction and Development, APH - Personalized Medicine, APH - Quality of Care, Chapel Allerton Hospital, University of Leeds, Departments of Molecular Genetics and Laboratory Medicine and Pathobiology, University of Toronto-Cancer Care Ontario, Reykjavík University, Division of Oncology, Department of Gynaecology and Obstetrics, University Hospital Schleswig–Holstein, The University of Texas M.D. Anderson Cancer Center [Houston], Unitat d'Alt Risc i Prevenció del Càncer, Vall d'Hebron University Hospital [Barcelona], University of Cambridge [UK] (CAM), Group of Human Genetics, Human Cancer Genetics Programme, Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), ISCIII, Department of Oncology, Clinical Sciences, Lund University [Lund]-Skåne University Hospital, Instituto de Investigación Sanitaria del Hospital Clínico San Carlos [Madrid, Spain] (IdISSC), Section of Genetic Oncology, University of Pisa - Università di Pisa, Columbia University [New York], Ghent University Hospital, Department of Clinical Genetics, Erasmus University Medical Center [Rotterdam] (Erasmus MC)-Family Cancer Clinic, Department of Laboratory Medicine and Pathology, Mayo Clinic, Division of Population Science, Fox Chase Cancer Center, Institut Curie [Paris], Mines Paris - PSL (École nationale supérieure des mines de Paris), Université Paris sciences et lettres (PSL), CHU Grenoble, CHI Poissy-Saint-Germain, Unité de génétique et biologie des cancers (U830), Institut Curie [Paris]-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Maladies infectieuses et vecteurs : écologie, génétique, évolution et contrôle (MIVEGEC), Université de Montpellier (UM)-Centre National de la Recherche Scientifique (CNRS)-Institut de Recherche pour le Développement (IRD [France-Sud]), RS: GROW - R4 - Reproductive and Perinatal Medicine, MUMC+: DA KG Lab Centraal Lab (9), MUMC+: DA KG Polikliniek (9), and Klinische Genetica
- Subjects
0301 basic medicine ,Percentile ,Pathological Conditions, Signs and Symptoms::Pathologic Processes::Disease Attributes::Disease Susceptibility::Genetic Predisposition to Disease [DISEASES] ,Neoplasms::Neoplasms by Site::Breast Neoplasms [DISEASES] ,SUSCEPTIBILITY ALLELES ,Diàtesi ,FAMILIES ,Tumours of the digestive tract Radboud Institute for Health Sciences [Radboudumc 14] ,MESH: BRCA2 Protein ,Breast cancer ,0302 clinical medicine ,MESH: Risk Factors ,Risk Factors ,Other subheadings::/diagnosis [Other subheadings] ,Medicine and Health Sciences ,Medicine ,Mama - Càncer - Diagnòstic ,Family history ,skin and connective tissue diseases ,Genetics (clinical) ,MESH: Heterozygote ,neoplasias::neoplasias por localización::neoplasias de la mama [ENFERMEDADES] ,Factors de risc en les malalties ,BRCA1 Protein ,Hazard ratio ,MESH: Genetic Predisposition to Disease ,1184 Genetics, developmental biology, physiology ,article ,OVARIAN ,BRCA2 Protein/genetics ,Women's cancers Radboud Institute for Health Sciences [Radboudumc 17] ,3. Good health ,030220 oncology & carcinogenesis ,Female ,Malalties congènites ,Adult ,Heterozygote ,medicine.medical_specialty ,MESH: Mutation ,Risk factors in diseases ,Otros calificadores::/diagnóstico [Otros calificadores] ,Breast Neoplasms ,Context (language use) ,MUTATION CARRIERS ,Càncer de mama ,afecciones patológicas, signos y síntomas::procesos patológicos::atributos de la enfermedad::susceptibilidad a enfermedades::predisposición genética a la enfermedad [ENFERMEDADES] ,03 medical and health sciences ,SDG 3 - Good Health and Well-being ,Internal medicine ,Humans ,Genetic Predisposition to Disease ,MESH: BRCA1 Protein ,Retrospective Studies ,BRCA2 Protein ,MESH: Humans ,business.industry ,Proportional hazards model ,CONSORTIUM ,Breast Neoplasms/diagnosis ,MESH: Adult ,MESH: Retrospective Studies ,Retrospective cohort study ,medicine.disease ,Confidence interval ,030104 developmental biology ,[SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics ,Mutation ,BRCA1 Protein/genetics ,3111 Biomedicine ,business ,MESH: Female ,MESH: Breast Neoplasms - Abstract
Predicció de risc de càncer de mama; Dones europees; Variant patògena heterozigota Predicción del riesgo de cáncer de mama; Mujeres europeas; Variante patógena heterocigota Breast cancer risk prediction; European women; Heterozygous pathogenic variant Purpose To evaluate the association between a previously published 313 variant–based breast cancer (BC) polygenic risk score (PRS313) and contralateral breast cancer (CBC) risk, in BRCA1 and BRCA2 pathogenic variant heterozygotes. Methods We included women of European ancestry with a prevalent first primary invasive BC (BRCA1 = 6,591 with 1,402 prevalent CBC cases; BRCA2 = 4,208 with 647 prevalent CBC cases) from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), a large international retrospective series. Cox regression analysis was performed to assess the association between overall and ER-specific PRS313 and CBC risk. Results For BRCA1 heterozygotes the estrogen receptor (ER)-negative PRS313 showed the largest association with CBC risk, hazard ratio (HR) per SD = 1.12, 95% confidence interval (CI) (1.06–1.18), C-index = 0.53; for BRCA2 heterozygotes, this was the ER-positive PRS313, HR = 1.15, 95% CI (1.07–1.25), C-index = 0.57. Adjusting for family history, age at diagnosis, treatment, or pathological characteristics for the first BC did not change association effect sizes. For women developing first BC
- Published
- 2021
- Full Text
- View/download PDF
20. Prognostic impact of MYD88 and CXCR4 mutations assessed by droplet digital polymerase chain reaction in IgM monoclonal gammopathy of undetermined significance and smouldering Waldenstrom macroglobulinaemia
- Author
-
Moreno, David F., López-Guerra, Mónica, Paz, Sara, Oliver Caldés, Aina, Mena, Mari-Pau, Correa, Juan Carlos, Battram, Anthony M., Osuna, Miguel, Rivas Delgado, Alfredo, Rodríguez Lobato, Luis Gerardo, Cardús, Oriol, Tovar, Natalia, Cibeira, María Teresa, Jiménez, Raquel, Bladé, J. (Joan), Rosiñol, Laura, Colomer Pujol, Dolors, and Fernández de Larrea Rodríguez, Carlos José
- Subjects
Impact ,Reacció en cadena de la polimerasa ,Mutació (Biologia) ,Impacte ,Mutation (Biology) ,Polymerase chain reaction - Abstract
Waldenstrom macroglobulinaemia (WM) is characterized by recurrent somatic mutations in MYD88 and CXCR4 genes. However, limitations arise when analysing these mutations in IgM monoclonal gammopathy of undetermined significance (MGUS) or smouldering WM (SWM) given the lower tumour load. Here, we used droplet digital polymerase chain reaction (ddPCR) to analyse MYD88 L265P and CXCR4 S338* mutations (C1013G and C1013A) in unsorted bone marrow (BM) or cell-free DNA (cfDNA) samples from 101 IgM MGUS and 69 SWM patients. ddPCR was more sensitive to assess MYD88 L265P compared to allele-specific PCR, especially in IgM MGUS (64% vs 39%). MYD88 mutation burden correlated with other laboratory biomarkers, particularly BM infiltration (r = 0.8; p < 0.001). CXCR4 C1013G was analysed in MYD88-mutated samples with available genomic DNA and was detected in 19/54 (35%) and 18/42 (43%) IgM MGUS and SWM cases respectively, also showing correlation with BM involvement (r = 0.9; p < 0.001). ddPCR also detected 8 (38%) and 10 (63%) MYD88-mutated cfDNA samples in IgM MGUS and SWM respectively. Moreover, high BM mutation burden (>= 8% MYD88 and >= 2% CXCR4) was associated with an increased risk of progression to symptomatic WM. We show the clinical applicability of ddPCR to assess MYD88 and CXCR4 in IgM MGUS and SWM and provide a molecular-based risk classification.
- Published
- 2022
21. High Prevalence of Prototheca Bovis Infection in Dairy Cattle with Chronic Mastitis in Ecuador
- Author
-
María Paula Huilca, David Vasco-Julio, Yanua Ledesma, Salomé Guerrero-Freire, Jeannette Zurita, Pablo Castillejo, Francisco Barceló-Blasco, Lisseth Yanez, Darwin Changoluisa, Gustavo Echeverría, Carlos Bastidas-Caldés, and Jacobus H. de Waard
- Abstract
The genus Prototheca, unicellular, non-photosynthetic, yeast-like microalgae, is a pathogen of concern for the dairy industry causing bovine mastitis that currently cannot be cured and hence generates significant economic losses in milk production. In this study, for the first time in Ecuador, we identify Prototheca bovis as the etiologic agent of chronic mastitis in dairy cattle. Milk samples (n=458) of cows with chronic mastitis were cultured on Sabouraud Dextrose Agar (SDA). Microscopy and cytB gene sequencing were used to identify Prototheca, whereby Prototheca bovis was isolated from 15.1% (n=69) of the milk samples, one of the highest infection rates that can be found in the literature in a “non-outbreak” situation. No other Prototheca species were found. We were unable to isolate the alga from environmental samples. We showed that P. bovis was relatively resistant to disinfectants used to sterilize milking equipment on the cattle farms where it was isolated. We discuss how to avoid future infection and also hypothesize that the real prevalence of Prototheca infection in bovine mastitis is probably much higher than what was detected. We recommend a protocol to increase the diagnostic yield in the bacteriology laboratory.
- Published
- 2022
- Full Text
- View/download PDF
22. Paraskeletal and extramedullary plasmacytomas in multiple myeloma at diagnosis and at first relapse: 50-years of experience from an academic institution
- Author
-
Raquel Jiménez-Segura, Laura Rosiñol, Ma Teresa Cibeira, Carlos Fernández de Larrea, Natalia Tovar, Luis Gerardo Rodríguez-Lobato, Esther Bladé, David F. Moreno, Aina Oliver-Caldés, and Joan Bladé
- Subjects
Proteasome Endopeptidase Complex ,Cancer cells ,Mieloma múltiple ,Hematology ,Transplantation, Autologous ,Plasma diagnostics ,Diagnòstic de plasma ,Oncology ,Estudi de casos ,Multiple myeloma ,Humans ,Cèl·lules canceroses ,Case studies ,Neoplasm Recurrence, Local ,Multiple Myeloma ,Plasmacytoma - Abstract
From January 1970 to December 2018, 1304 patients were diagnosed with multiple myeloma (MM) at our institution and 256 (19.6%) had plasmacytomas (Ps) (paraskeletal –PPs- 17.6%, extramedullary –EMPs-1.9%). Patients with Ps had lower serum M-protein and less advanced ISS stage than those without. At first relapse, 192 out of 967 patients (19.8%) developed Ps (PPs 14.6%, EMPs 5.1%). The only factor associated with Ps at relapse was the presence of Ps at diagnosis (46% vs 13%, p p = 0.013). Patients with PPs who underwent ASCT had similar OS than those without Ps (98 vs. 113 months) and significantly longer than those with EMPs (98 vs 47 months, p = 0.006). In patients non-eligible for ASCT the presence of PPs or EMPs was associated with shorter OS compared with patients without Ps (32 vs. 24 vs. 6 months, p = 0.009). In the relapsed setting, a significant survival benefit was observed beyond the year 2000, but still with significant differences among patients without Ps, PPs and EMPs (37 vs 22 vs 16 months, p = 0.003). Importantly, rescue therapy with combinations of proteasome-inhibitors plus immunomodulatory drugs was associated with prolonged OS from first relapse (over 6 years), even in patients with EMPs.
- Published
- 2022
23. Prognostic impact of MYD88 and CXCR4 mutations assessed by droplet digital polymerase chain reaction in IgM monoclonal gammopathy of undetermined significance and smouldering Waldenström macroglobulinaemia
- Author
-
David F, Moreno, Mónica, López-Guerra, Sara, Paz, Aina, Oliver-Caldés, Mari-Pau, Mena, Juan G, Correa, Anthony M, Battram, Miguel, Osuna, Alfredo, Rivas-Delgado, Luis Gerardo, Rodríguez-Lobato, Oriol, Cardús, Natalia, Tovar, María Teresa, Cibeira, Raquel, Jiménez-Segura, Joan, Bladé, Laura, Rosiñol, Dolors, Colomer, and Carlos, Fernández de Larrea
- Abstract
Waldenström macroglobulinaemia (WM) is characterized by recurrent somatic mutations in MYD88 and CXCR4 genes. However, limitations arise when analysing these mutations in IgM monoclonal gammopathy of undetermined significance (MGUS) or smouldering WM (SWM) given the lower tumour load. Here, we used droplet digital polymerase chain reaction (ddPCR) to analyse MYD88 L265P and CXCR4 S338* mutations (C1013G and C1013A) in unsorted bone marrow (BM) or cell-free DNA (cfDNA) samples from 101 IgM MGUS and 69 SWM patients. ddPCR was more sensitive to assess MYD88 L265P compared to allele-specific PCR, especially in IgM MGUS (64% vs 39%). MYD88 mutation burden correlated with other laboratory biomarkers, particularly BM infiltration (r = 0.8; p 0.001). CXCR4 C1013G was analysed in MYD88-mutated samples with available genomic DNA and was detected in 19/54 (35%) and 18/42 (43%) IgM MGUS and SWM cases respectively, also showing correlation with BM involvement (r = 0.9; p 0.001). ddPCR also detected 8 (38%) and 10 (63%) MYD88-mutated cfDNA samples in IgM MGUS and SWM respectively. Moreover, high BM mutation burden (≥8% MYD88 and ≥2% CXCR4) was associated with an increased risk of progression to symptomatic WM. We show the clinical applicability of ddPCR to assess MYD88 and CXCR4 in IgM MGUS and SWM and provide a molecular-based risk classification.
- Published
- 2022
24. Colorectal cancer incidences in Lynch syndrome: a comparison of results from the prospective lynch syndrome database and the international mismatch repair consortium
- Author
-
Møller, Pål, Seppälä, Toni, Dowty, James G., Haupt, Saskia, Dominguez-Valentin, Mev, Sunde, Lone, Bernstein, Inge, Engel, Christoph, Aretz, Stefan, Nielsen, Maartje, Capella, Gabriel, Evans, Dafydd Gareth, Burn, John, Holinski-Feder, Elke, Bertario, Lucio, Bonanni, Bernardo, Lindblom, Annika, Levi, Zohar, Macrae, Finlay, Winship, Ingrid, Plazzer, John-Paul, Sijmons, Rolf, Laghi, Luigi, Valle, Adriana Della, Heinimann, Karl, Half, Elizabeth, Lopez-Koestner, Francisco, Alvarez-Valenzuela, Karin, Scott, Rodney J., Katz, Lior, Laish, Ido, Vainer, Elez, Vaccaro, Carlos Alberto, Carraro, Dirce Maria, Gluck, Nathan, Abu-Freha, Naim, Stakelum, Aine, Kennelly, Rory, Winter, Des, Rossi, Benedito Mauro, Greenblatt, Marc, Bohorquez, Mabel, Sheth, Harsh, Tibiletti, Maria Grazia, Lino-Silva, Leonardo S., Horisberger, Karoline, Portenkirchner, Carmen, Nascimento, Ivana, Rossi, Norma Teresa, da Silva, Leandro Apolinário, Thomas, Huw, Zaránd, Attila, Mecklin, Jukka-Pekka, Pylvänäinen, Kirsi, Renkonen-Sinisalo, Laura, Lepisto, Anna, Peltomäki, Päivi, Therkildsen, Christina, Lindberg, Lars Joachim, Thorlacius-Ussing, Ole, von Knebel Doeberitz, Magnus, Loeffler, Markus, Rahner, Nils, Steinke-Lange, Verena, Schmiegel, Wolff, Vangala, Deepak, Perne, Claudia, Hüneburg, Robert, de Vargas, Aída Falcón, Latchford, Andrew, Gerdes, Anne-Marie, Backman, Ann-Sofie, Guillén-Ponce, Carmen, Snyder, Carrie, Lautrup, Charlotte K., Amor, David, Palmero, Edenir, Stoffel, Elena, Duijkers, Floor, Hall, Michael J., Hampel, Heather, Williams, Heinric, Okkels, Henrik, Lubiński, Jan, Reece, Jeanette, Ngeow, Joanne, Guillem, Jose G., Arnold, Julie, Wadt, Karin, Monahan, Kevin, Senter, Leigha, Rasmussen, Lene J., van Hest, Liselotte P., Ricciardiello, Luigi, Kohonen-Corish, Maija R. J., Ligtenberg, Marjolijn J. L., Southey, Melissa, Aronson, Melyssa, Zahary, Mohd N., Samadder, N. Jewel, Poplawski, Nicola, Hoogerbrugge, Nicoline, Morrison, Patrick J., James, Paul, Lee, Grant, Chen-Shtoyerman, Rakefet, Ankathil, Ravindran, Pai, Rish, Ward, Robyn, Parry, Susan, Dębniak, Tadeusz, John, Thomas, van Overeem Hansen, Thomas, Caldés, Trinidad, Yamaguchi, Tatsuro, Barca-Tierno, Verónica, Garre, Pilar, Cavestro, Giulia Martina, Weitz, Jürgen, Redler, Silke, Büttner, Reinhard, Heuveline, Vincent, Hopper, John L., Win, Aung Ko, Lindor, Noralane, Gallinger, Steven, Le Marchand, Loïc, Newcomb, Polly A., Figueiredo, Jane, Buchanan, Daniel D., Thibodeau, Stephen N., ten Broeke, Sanne W., Hovig, Eivind, Nakken, Sigve, Pineda, Marta, Dueñas, Nuria, Brunet, Joan, Green, Kate, Lalloo, Fiona, Newton, Katie, Crosbie, Emma J., Mints, Miriam, Tjandra, Douglas, Neffa, Florencia, Esperon, Patricia, Kariv, Revital, Rosner, Guy, Pavicic, Walter Hernán, Kalfayan, Pablo, Torrezan, Giovana Tardin, Bassaneze, Thiago, Martin, Claudia, Moslein, Gabriela, Ahadova, Aysel, Kloor, Matthias, Sampson, Julian R., Jenkins, Mark A., European Hereditary Tumour Group, International Mismatch Repair Consortium, Guided Treatment in Optimal Selected Cancer Patients (GUTS), Møller, Pål, Seppälä, Toni, Dowty, James G, Haupt, Saskia, Dominguez-Valentin, Mev, Sunde, Lone, Bernstein, Inge, Engel, Christoph, Aretz, Stefan, Nielsen, Maartje, Capella, Gabriel, Evans, Dafydd Gareth, Burn, John, Holinski-Feder, Elke, Bertario, Lucio, Bonanni, Bernardo, Lindblom, Annika, Levi, Zohar, Macrae, Finlay, Winship, Ingrid, Plazzer, John-Paul, Sijmons, Rolf, Laghi, Luigi, Valle, Adriana Della, Heinimann, Karl, Half, Elizabeth, Lopez-Koestner, Francisco, Alvarez-Valenzuela, Karin, Scott, Rodney J, Katz, Lior, Laish, Ido, Vainer, Elez, Vaccaro, Carlos Alberto, Carraro, Dirce Maria, Gluck, Nathan, Abu-Freha, Naim, Stakelum, Aine, Kennelly, Rory, Winter, De, Rossi, Benedito Mauro, Greenblatt, Marc, Bohorquez, Mabel, Sheth, Harsh, Tibiletti, Maria Grazia, Lino-Silva, Leonardo S, Horisberger, Karoline, Portenkirchner, Carmen, Nascimento, Ivana, Rossi, Norma Teresa, da Silva, Leandro Apolinário, Thomas, Huw, Zaránd, Attila, Mecklin, Jukka-Pekka, Pylvänäinen, Kirsi, Renkonen-Sinisalo, Laura, Lepisto, Anna, Peltomäki, Päivi, Therkildsen, Christina, Lindberg, Lars Joachim, Thorlacius-Ussing, Ole, von Knebel Doeberitz, Magnu, Loeffler, Marku, Rahner, Nil, Steinke-Lange, Verena, Schmiegel, Wolff, Vangala, Deepak, Perne, Claudia, Hüneburg, Robert, de Vargas, Aída Falcón, Latchford, Andrew, Gerdes, Anne-Marie, Backman, Ann-Sofie, Guillén-Ponce, Carmen, Snyder, Carrie, Lautrup, Charlotte K, Amor, David, Palmero, Edenir, Stoffel, Elena, Duijkers, Floor, Hall, Michael J, Hampel, Heather, Williams, Heinric, Okkels, Henrik, Lubiński, Jan, Reece, Jeanette, Ngeow, Joanne, Guillem, Jose G, Arnold, Julie, Wadt, Karin, Monahan, Kevin, Senter, Leigha, Rasmussen, Lene J, van Hest, Liselotte P, Ricciardiello, Luigi, Kohonen-Corish, Maija R J, Ligtenberg, Marjolijn J L, Southey, Melissa, Aronson, Melyssa, Zahary, Mohd N, Samadder, N Jewel, Poplawski, Nicola, Hoogerbrugge, Nicoline, Morrison, Patrick J, James, Paul, Lee, Grant, Chen-Shtoyerman, Rakefet, Ankathil, Ravindran, Pai, Rish, Ward, Robyn, Parry, Susan, Dębniak, Tadeusz, John, Thoma, van Overeem Hansen, Thoma, Caldés, Trinidad, Yamaguchi, Tatsuro, Barca-Tierno, Verónica, Garre, Pilar, Cavestro, Giulia Martina, Weitz, Jürgen, Redler, Silke, Büttner, Reinhard, Heuveline, Vincent, Hopper, John L, Win, Aung Ko, Lindor, Noralane, Gallinger, Steven, Le Marchand, Loïc, Newcomb, Polly A, Figueiredo, Jane, Buchanan, Daniel D, Thibodeau, Stephen N, Ten Broeke, Sanne W, Hovig, Eivind, Nakken, Sigve, Pineda, Marta, Dueñas, Nuria, Brunet, Joan, Green, Kate, Lalloo, Fiona, Newton, Katie, Crosbie, Emma J, Mints, Miriam, Tjandra, Dougla, Neffa, Florencia, Esperon, Patricia, Kariv, Revital, Rosner, Guy, Pavicic, Walter Hernán, Kalfayan, Pablo, Torrezan, Giovana Tardin, Bassaneze, Thiago, Martin, Claudia, Moslein, Gabriela, Ahadova, Aysel, Kloor, Matthia, Sampson, Julian R, Jenkins, Mark A, Human genetics, Cancer Center Amsterdam, CCA - Cancer biology and immunology, ATG - Applied Tumor Genomics, HUS Abdominal Center, Clinicum, II kirurgian klinikka, Department of Surgery, University of Helsinki, Department of Medical and Clinical Genetics, Tampere University, Clinical Medicine, and TAYS Cancer Centre
- Subjects
koloskopia ,European Hereditary Tumour Group (EHTG) and the International Mismatch Repair Consortium (IMRC) ,Epidemiology ,3122 Cancers ,ehkäisy ,colorectal cancer ,Penetrance ,segregaatio ,läpäisevyys ,suolistosyövät ,GUIDELINES ,over-diagnosis ,SDG 3 - Good Health and Well-being ,prevention ,Tumours of the digestive tract Radboud Institute for Molecular Life Sciences [Radboudumc 14] ,1112 Oncology and Carcinogenesis ,Oncology & Carcinogenesis ,penetrance ,Lynchin oireyhtymä ,Epidemiologia ,Segregation analysis ,Over-diagnosi ,Genetics (clinical) ,segregation analysis ,Science & Technology ,Incidence ,Prevention ,Colonoscòpia ,GERMLINE MUTATIONS ,Colonoscopy ,prospective ,CARRIERS ,Colorectal cancer ,3142 Public health care science, environmental and occupational health ,Prospective ,Lynch syndrome ,Oncology ,Lynch Syndrome ,Over-diagnosis ,incidence ,CLINICAL MANAGEMENT ,ilmaantuvuus ,Life Sciences & Biomedicine - Abstract
Objective To compare colorectal cancer (CRC) incidences in carriers of pathogenic variants of the MMR genes in the PLSD and IMRC cohorts, of which only the former included mandatory colonoscopy surveillance for all participants. Methods CRC incidences were calculated in an intervention group comprising a cohort of confirmed carriers of pathogenic or likely pathogenic variants in mismatch repair genes (path_MMR) followed prospectively by the Prospective Lynch Syndrome Database (PLSD). All had colonoscopy surveillance, with polypectomy when polyps were identified. Comparison was made with a retrospective cohort reported by the International Mismatch Repair Consortium (IMRC). This comprised confirmed and inferred path_MMR carriers who were first- or second-degree relatives of Lynch syndrome probands. Results In the PLSD, 8,153 subjects had follow-up colonoscopy surveillance for a total of 67,604 years and 578 carriers had CRC diagnosed. Average cumulative incidences of CRC in path_MLH1 carriers at 70 years of age were 52% in males and 41% in females; for path_MSH2 50% and 39%; for path_MSH6 13% and 17% and for path_PMS2 11% and 8%. In contrast, in the IMRC cohort, corresponding cumulative incidences were 40% and 27%; 34% and 23%; 16% and 8% and 7% and 6%. Comparing just the European carriers in the two series gave similar findings. Numbers in the PLSD series did not allow comparisons of carriers from other continents separately. Cumulative incidences at 25 years were < 1% in all retrospective groups. Conclusions Prospectively observed CRC incidences (PLSD) in path_MLH1 and path_MSH2 carriers undergoing colonoscopy surveillance and polypectomy were higher than in the retrospective (IMRC) series, and were not reduced in path_MSH6 carriers. These findings were the opposite to those expected. CRC point incidence before 50 years of age was reduced in path_PMS2 carriers subjected to colonoscopy, but not significantly so.
- Published
- 2022
- Full Text
- View/download PDF
25. Management of water quality in Chile: key aspects for improvement
- Author
-
Guido Carvajal, Gabriel Caldés, Stuart J. Khan, Natalia Hauck, and R. Cayumil
- Subjects
business.industry ,Geography, Planning and Development ,Key (cryptography) ,Water quality ,Water safety ,business ,Environmental planning ,Risk management ,World health ,Water Science and Technology ,Water quality management - Abstract
Water quality management has increasingly been based on the adoption of risk management frameworks as defined by Water Safety Plans (WSP), through the World Health Organization Guidelines for Drinking-water Quality. The potential application of such frameworks in Chile has not been fully explored, therefore it is necessary to identify aspects of water quality management which are currently not consistent with such an approach. A template for successful adaptation is provided by the framework for Management of Drinking Water Quality applied in Australia, through the Australian Drinking Water Guidelines (ADWG). This study employed the management framework presented in the ADWG, to evaluate gaps in risk management as it is applied in the drinking water sector in Chile. Substantial differences were detected in the assessment of the supply system, preventive measures, R&D, the needs for review and continual improvement, as well as concepts and tools including multiple barriers and critical control points.
- Published
- 2021
- Full Text
- View/download PDF
26. BRIP1, a Gene Potentially Implicated in Familial Colorectal Cancer Type X
- Author
-
Patricia Llovet, Vanesa García-Barberán, Víctor Lorca, Maria Luisa Gonzalez-Morales, Marta Cazorla, Lorena Martín-Morales, Clara Esteban-Jurado, Pilar Garre, Inmaculada Bando, Trinidad Caldés, Sergi Castellví-Bel, and Miguel de la Hoya
- Subjects
0301 basic medicine ,Oncology ,Cancer Research ,medicine.medical_specialty ,Familial Colorectal Cancer Type X ,Colorectal cancer ,business.industry ,Genetic counseling ,BRIP1 ,Disease ,Molecular diagnostics ,medicine.disease ,Frameshift mutation ,03 medical and health sciences ,030104 developmental biology ,0302 clinical medicine ,030220 oncology & carcinogenesis ,Internal medicine ,medicine ,business ,Ovarian cancer - Abstract
Familial colorectal cancer Type X (FCCTX) comprises a heterogeneous group of families with an increased risk of developing colorectal cancer and other related tumors, but with mismatch repair–proficient, microsatellite-stable (MSS) tumors. Unfortunately, the genetic basis underlying their cancer predisposition remains unknown. Although pathogenic germline variants in BRIP1 increase the risk of developing hereditary ovarian cancer, the involvement of BRIP1 in hereditary colorectal cancer is still not well known. In order to identify new BRIP1 variants associated with inherited colorectal cancer, affected and nonaffected individuals from 18 FCCTX or high-risk MSS colorectal cancer families were evaluated by whole-exome sequencing, and another 62 colorectal cancer patients from FCCTX or high-risk MSS colorectal cancer families were screened by a next-generation sequencing (NGS) multigene panel. The families were recruited at the Genetic Counseling Unit of Hospital Clínico San Carlos of Madrid. A total of three different BRIP1 mutations in three unrelated families were identified. Among them, there were two frameshift variants [c.1702_1703del, p.(Asn568TrpfsTer9) and c.903del, p.(Leu301PhefsTer2)] that result in the truncation of the protein and are thus classified as pathogenic (class 5). The remaining was a missense variant [c.2220G>T, p.(Gln740His)] considered a variant of uncertain significance (class 3). The segregation and loss-of-heterozygosity studies provide evidence linking the two BRIP1 frameshift variants to colorectal cancer risk, with suggestive but not definitive evidence that the third variant may be benign. The results here presented suggest that germline BRIP1 pathogenic variants could be associated with hereditary colorectal cancer predisposition. Prevention Relevance: We suggest that BRIP1 pathogenic germline variants may have a causal role in CRC as moderate cancer susceptibility alleles and be associated with hereditary CRC predisposition. A better understanding of hereditary CRC may provide important clues to disease predisposition and could contribute to molecular diagnostics, improved risk stratification, and targeted therapeutic strategies.
- Published
- 2021
- Full Text
- View/download PDF
27. Strongyloides stercoralis and glomerular diseases: A case report
- Author
-
Ledesma Gabriel, Rivas Begoña, Vega Cristina, Carreño Gilda, Díaz Raquel, Gallegos Ángel, Mercado Verónica, Caldés Silvia, Amezquita Yesika, Hernández Yolanda, Echarri Rocío, Hevia Covadonga, and Cirugeda Antonio
- Subjects
General Medicine - Published
- 2022
- Full Text
- View/download PDF
28. Metodologia d’ensenyament basada en projectes del cicle formatiu d'instal·lacions elèctriques i automàtiques e intercicle
- Author
-
Farré Caldés, Josep Maria, Universitat Politècnica de Catalunya. Departament d'Enginyeria Electrònica, and Torrents Dolz, Josep M.
- Subjects
ABP methodology ,intracycle ,metodologia ABP ,Vocational education ,active methodologies ,Aprenentatge Basat en Problemes ,Problem-based learning ,Ensenyament i aprenentatge::Metodologies docents::Aprenentatge basat en problemes i projectes [Àrees temàtiques de la UPC] ,metodologies actives ,professional training ,Formació professional ,intercicle ,Problem-based learning [Keywords] - Published
- 2022
29. Effect of preoperative exercise on vascular caliber and maturation of arteriovenous fistula: the physicalfav trial, a randomized controlled study
- Author
-
Nicolás Macías, Soledad Manzano Grossi, Silvia Caldés, Yolanda Hernandez Hernandez, Marian Goicoechea, Belen Ramirez Senent, Inés Aragoncillo Sauco, Covadonga Hevia, and Yésika Amézquita
- Subjects
Nephrology ,medicine.medical_specialty ,business.industry ,medicine.medical_treatment ,030232 urology & nephrology ,Vascular access ,Arteriovenous fistula ,Isometric exercise ,030204 cardiovascular system & hematology ,medicine.disease ,law.invention ,03 medical and health sciences ,0302 clinical medicine ,Randomized controlled trial ,law ,Caliber ,Internal medicine ,Cardiology ,Medicine ,Doppler ultrasound ,Hemodialysis ,business - Abstract
Autologous arteriovenous fistula (AVF) is the best vascular access for hemodialysis. Distal forearm radiocephalic fistula is the best option, although the primary failure rate ranges from 20% to 50%. The main objective of the PHYSICALFAV trial was to evaluate the effect of preoperative isometric exercise on vascular caliber, percentage of distal arteriovenous fistula, and primary failure rate. The PHYSICALFAV trial (NCT03213756) is an open-label, multicenter, prospective, randomized, controlled trial (RCT). A total of 138 patients were randomized 1:1 to the exercise group (exercises combining a handgrip device and an elastic band for 8 weeks) or the control group (no exercise) and followed up with periodic Doppler ultrasound (DU) examinations. After 8 weeks of preoperative isometric exercise, in the exercise group, significant increases were detected in venous caliber (2.80 ± 0.95 mm vs 3.52 ± 0.93 mm [p
- Published
- 2021
- Full Text
- View/download PDF
30. Alcohol Consumption, Cigarette Smoking, and Risk of Breast Cancer for BRCA1 and BRCA2 Mutation Carriers
- Author
-
Ana Osorio, Marinus J. Blok, Douglas F. Easton, Mary B. Daly, Nadine Andrieu, Michael Friedlander, Roger L. Milne, Brita Arver, Anne-Marie Gerdes, Olivier Caron, Katie Snape, D. Gareth Evans, Jacques Simard, David E. Goldgar, Anna Jakubowska, Edith Olah, Hongyan Li, Karin Kast, Dominique Stoppa-Lyonnet, Yen Y. Tan, Håkan Olsson, Lisa Walker, Trinidad Caldés, Véronique Mari, Catherine Noguès, Mary Porteous, Louise Izatt, Christoph Engel, Irene L. Andrulis, Rita K. Schmutzler, Hanne Meijers-Heijboer, Daniel Barrowdale, Johan J.P. Gille, Marc Tischkowitz, John L. Hopper, Marie Jose Roos-Blom, Matti A. Rookus, Mary Beth Terry, Marie Navratilova, Nicoline Hoogerbrugge, Lucy Side, Christine Lasset, T.M. Mooij, Christian F. Singer, Saundra S. Buys, Flora E. van Leeuwen, Sue-Anne McLachlan, Pascaline Berthet, Mark T. Rogers, Carole Brewer, Antonis C. Antoniou, Kelly-Anne Phillips, Lenka Foretova, Debra Frost, Esther M. John, RS: GROW - R4 - Reproductive and Perinatal Medicine, MUMC+: DA KG Lab Centraal Lab (9), APH - Quality of Care, APH - Methodology, Graduate School, Human genetics, Amsterdam Neuroscience - Complex Trait Genetics, and CCA - Cancer Treatment and quality of life
- Subjects
0301 basic medicine ,Oncology ,medicine.medical_specialty ,life-style ,PROGNOSIS ,endocrine system diseases ,Epidemiology ,Population ,SUSCEPTIBILITY ,03 medical and health sciences ,0302 clinical medicine ,Breast cancer ,Internal medicine ,Tumours of the digestive tract Radboud Institute for Molecular Life Sciences [Radboudumc 14] ,Medicine ,ovarian ,education ,Prospective cohort study ,skin and connective tissue diseases ,education.field_of_study ,business.industry ,Proportional hazards model ,BRCA mutation ,Retrospective cohort study ,medicine.disease ,3. Good health ,KCONFAB ,030104 developmental biology ,030220 oncology & carcinogenesis ,Cohort ,Mutation (genetic algorithm) ,business - Abstract
Background: Tobacco smoking and alcohol consumption have been intensively studied in the general population to assess their effects on the risk of breast cancer, but very few studies have examined these effects in BRCA1 and BRCA2 mutation carriers. Given the high breast cancer risk for mutation carriers and the importance of BRCA1 and BRCA2 in DNA repair, better evidence on the associations of these lifestyle factors with breast cancer risk is essential. Methods: Using a large international pooled cohort of BRCA1 and BRCA2 mutation carriers, we conducted retrospective (5,707 BRCA1 mutation carriers and 3,525 BRCA2 mutation carriers) and prospective (2,276 BRCA1 mutation carriers and 1,610 BRCA2 mutation carriers) analyses of alcohol and tobacco consumption using Cox proportional hazards models. Results: For both BRCA1 and BRCA2 mutation carriers, none of the smoking-related variables was associated with breast cancer risk, except smoking for more than 5 years before a first full-term pregnancy (FFTP) when compared with parous women who never smoked. For BRCA1 mutation carriers, the HR from retrospective analysis (HRR) was 1.19 [95% confidence interval (CI), 1.02–1.39] and the HR from prospective analysis (HRP) was 1.36 (95% CI, 0.99–1.87). For BRCA2 mutation carriers, smoking for more than 5 years before an FFTP showed an association of a similar magnitude, but the confidence limits were wider (HRR = 1.25; 95% CI, 1.01–1.55 and HRP = 1.30; 95% CI, 0.83–2.01). For both carrier groups, alcohol consumption was not associated with breast cancer risk. Conclusions: The finding that smoking during the prereproductive years increases breast cancer risk for mutation carriers warrants further investigation. Impact: This is the largest prospective study of BRCA mutation carriers to assess these important risk factors.
- Published
- 2020
- Full Text
- View/download PDF
31. P-154: Incidence and prognosis of renal failure in multiple myeloma: 50-years experience from an academic institution
- Author
-
Laura Rosiñol, Claudia Concu, M Teresa Cibeira, Carlos Fernández de Larrea, Luix Quintana, Natalia Tovar, Raquel Jiménez-Segura, Luis Gerardo Rodríguez-Lobato, David F Moreno, Aina Oliver-Caldés, and Joan Blade
- Subjects
Cancer Research ,Oncology ,Hematology - Published
- 2022
- Full Text
- View/download PDF
32. A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers
- Author
-
Coignard, Juliette, Lush, Michael, Beesley, Jonathan, O’Mara, Tracy A., Dennis, Joe, Tyrer, Jonathan P., Barnes, Daniel R., McGuffog, Lesley, Leslie, Goska, Bolla, Manjeet K., Adank, Muriel A., Agata, Simona, Ahearn, Thomas, Aittomäki, Kristiina, Andrulis, Irene L., Anton-Culver, Hoda, Arndt, Volker, Arnold, Norbert, Aronson, Kristan J., Arun, Banu K., Augustinsson, Annelie, Azzollini, Jacopo, Barrowdale, Daniel, Baynes, Caroline, Becher, Heko, Bermisheva, Marina, Bernstein, Leslie, Białkowska, Katarzyna, Blomqvist, Carl, Bojesen, Stig E., Bonanni, Bernardo, Borg, Ake, Brauch, Hiltrud, Brenner, Hermann, Burwinkel, Barbara, Buys, Saundra S., Caldés, Trinidad, Caligo, Maria A., Campa, Daniele, Carter, Brian D., Castelao, Jose E., Chang-Claude, Jenny, Chanock, Stephen J., Chung, Wendy K., Claes, Kathleen B. M., Clarke, Christine L., Bertrand, Ophélie, Caputo, Sandrine, Dupré, Anaïs, le Mentec, Marine, Belotti, Muriel, Birot, Anne-Marie, Buecher, Bruno, Fourme, Emmanuelle, Gauthier-Villars, Marion, Golmard, Lisa, Houdayer, Claude, Moncoutier, Virginie, de Pauw, Antoine, Saule, Claire, Sinilnikova, Olga, Mazoyer, Sylvie, Damiola, Francesca, Barjhoux, Laure, Verny-Pierre, Carole, Léone, M. lanie, Boutry-Kryza, Nadia, Calender, Alain, Giraud, Sophie, Caron, Olivier, Guillaud-Bataille, Marine, Bressac-de-Paillerets, Brigitte, Bignon, Yves- Jean, Uhrhammer, Nancy, Lasset, Christine, Bonadona, Valérie, Berthet, Pascaline, Vaur, Dominique, Castera, Laurent, Noguchi, Tetsuro, Popovici, Cornel, Sobol, Hagay, Bourdon, Violaine, Remenieras, Audrey, Noguès, Catherine, Coupier, Isabelle, Pujol, Pascal, Dumont, Aurélie, Révillion, Françoise, Adenis, Claude, Muller, Danièle, Barouk-Simonet, Emmanuelle, Bonnet, Françoise, Bubien, Virginie, Sevenet, Nicolas, Longy, Michel, Toulas, Christine, Guimbaud, Rosine, Gladieff, Laurence, Feillel, Viviane, Leroux, Dominique, Dreyfus, H. lène, Rebischung, Christine, Peysselon, Magalie, Coron, Fanny, Faivre, Laurence, Baurand, Amandine, Jacquot, Caroline, Bertolone, Geoffrey, Lizard, Sarab, Prieur, Fabienne, Lebrun, Marine, Kientz, Caroline, Ferrer, Sandra Fert, Mari, V. ronique, Vénat-Bouvet, Laurence, Delnatte, Capucine, Bézieau, Stéphane, Mortemousque, Isabelle, Coulet, Florence, Colas, Chrystelle, Soubrier, Florent, Warcoin, Mathilde, Sokolowska, Johanna, Bronner, Myriam, Collonge-Rame, Marie-Agnès, Damette, Alexandre, Gesta, Paul, Lallaoui, Hakima, Chiesa, Jean, Molina-Gomes, Denise, Ingster, Olivier, Gregory, Helen, Miedzybrodzka, Zosia, Morrison, Patrick J., Ong, Kai-ren, Donaldson, Alan, Rogers, Mark T., Kennedy, M. John, Porteous, Mary E., Brewer, Carole, Davidson, Rosemarie, Izatt, Louise, Brady, Angela, Barwell, Julian, Adlard, Julian, Foo, Claire, Lalloo, Fiona, Side, Lucy E., Eason, Jacqueline, Henderson, Alex, Walker, Lisa, Eeles, Rosalind A., Cook, Jackie, Snape, Katie, Eccles, Diana, Murray, Alex, McCann, Emma, Collée, J. Margriet, Conroy, Don M., Czene, Kamila, Daly, Mary B., Devilee, Peter, Diez, Orland, Ding, Yuan Chun, Domchek, Susan M., Dörk, Thilo, dos-Santos-Silva, Isabel, Dunning, Alison M., Dwek, Miriam, Eccles, Diana M., Eliassen, A. Heather, Engel, Christoph, Eriksson, Mikael, Evans, D. Gareth, Fasching, Peter A., Flyger, Henrik, Fostira, Florentia, Friedman, Eitan, Fritschi, Lin, Frost, Debra, Gago-Dominguez, Manuela, Gapstur, Susan M., Garber, Judy, Garcia-Barberan, Vanesa, García-Closas, Montserrat, García-Sáenz, José A., Gaudet, Mia M., Gayther, Simon A., Gehrig, Andrea, Georgoulias, Vassilios, Giles, Graham G., Godwin, Andrew K., Goldberg, Mark S., Goldgar, David E., González-Neira, Anna, Greene, Mark H., Guénel, Pascal, Haeberle, Lothar, Hahnen, Eric, Haiman, Christopher A., Håkansson, Niclas, Hall, Per, Hamann, Ute, Harrington, Patricia A., Hart, Steven N., He, Wei, Hogervorst, Frans B. L., Hollestelle, Antoinette, Hopper, John L., Horcasitas, Darling J., Hulick, Peter J., Hunter, David J., Imyanitov, Evgeny N., Fox, Stephen, Campbell, Ian, Spurdle, Amanda, Webb, Penny, de Fazio, Anna, Tassell, Margaret, Kirk, Judy, Lindeman, Geoff, Price, Melanie, Southey, Melissa, Milne, Roger, Deb, Sid, Bowtell, David, van der Hout, Annemieke H., van den Ouweland, Ans M. W., Mensenkamp, Arjen R., van Deurzen, Carolien H. M., Kets, Carolien M., Seynaeve, Caroline, van Asperen, Christi J., Aalfs, Cora M., Gómez Garcia, Encarna B., van Leeuwen, Flora E., de Bock, G. H., Meijers-Heijboer, Hanne E. J., Obdeijn, Inge M., Gille, J. J. P., Oosterwijk, Jan C., Wijnen, Juul T., van der Kolk, Lizet E., Hooning, Maartje J., Ausems, Margreet G. E. M., Mourits, Marian J. E., Blok, Marinus J., Rookus, Matti A., van der Luijt, Rob B., van Cronenburg, T. C. T. E. F., van der Pol, Carmen C., Russell, Nicola S., Siesling, Sabine, Overbeek, Lucy, Wijnands, R., de Lange, Judith L., Clarke, Christine, Graham, Dinny, Sachchithananthan, Mythily, Marsh, Deborah, Scott, Rodney, Baxter, Robert, Yip, Desmond, Carpenter, Jane, Davis, Alison, Pathmanathan, Nirmala, Simpson, Peter, Jager, Agnes, Jakubowska, Anna, James, Paul A., Jensen, Uffe Birk, John, Esther M., Jones, Michael E., Kaaks, Rudolf, Kapoor, Pooja Middha, Karlan, Beth Y., Keeman, Renske, Khusnutdinova, Elza, Kiiski, Johanna I., Ko, Yon-Dschun, Kosma, Veli-Matti, Kraft, Peter, Kurian, Allison W., Laitman, Yael, Lambrechts, Diether, le Marchand, Loic, Lester, Jenny, Lesueur, Fabienne, Lindstrom, Tricia, Lopez-Fernández, Adria, Loud, Jennifer T., Luccarini, Craig, Mannermaa, Arto, Manoukian, Siranoush, Margolin, Sara, Martens, John W. M., Mebirouk, Noura, Meindl, Alfons, Miller, Austin, Milne, Roger L., Montagna, Marco, Nathanson, Katherine L., Neuhausen, Susan L., Nevanlinna, Heli, Nielsen, Finn C., O’Brien, Katie M., Olopade, Olufunmilayo I., Olson, Janet E., Olsson, H. kan, Osorio, Ana, Ottini, Laura, Park-Simon, Tjoung-Won, Parsons, Michael T., Pedersen, Inge Sokilde, Peshkin, Beth, Peterlongo, Paolo, Peto, Julian, Pharoah, Paul D. P., Phillips, Kelly-Anne, Polley, Eric C., Poppe, Bruce, Presneau, Nadege, Pujana, Miquel Angel, Punie, Kevin, Radice, Paolo, Rantala, Johanna, Rashid, Muhammad U., Rennert, Gad, Rennert, Hedy S., Robson, Mark, Romero, Atocha, Rossing, Maria, Saloustros, Emmanouil, Sandler, Dale P., Santella, Regina, Scheuner, Maren T., Schmidt, Marjanka K., Schmidt, Gunnar, Scott, Christopher, Sharma, Priyanka, Soucy, Penny, Southey, Melissa C., Spinelli, John J., Steinsnyder, Zoe, Stone, Jennifer, Stoppa-Lyonnet, Dominique, Swerdlow, Anthony, Tamimi, Rulla M., Tapper, William J., Taylor, Jack A., Terry, Mary Beth, Teulé, Alex, Thull, Darcy L., Tischkowitz, Marc, Toland, Amanda E., Torres, Diana, Trainer, Alison H., Truong, Thérèse, Tung, Nadine, Vachon, Celine M., Vega, Ana, Vijai, Joseph, Wang, Qin, Wappenschmidt, Barbara, Weinberg, Clarice R., Weitzel, Jeffrey N., Wendt, Camilla, Wolk, Alicja, Yadav, Siddhartha, Yang, Xiaohong R., Yannoukakos, Drakoulis, Zheng, Wei, Ziogas, Argyrios, Zorn, Kristin K., Park, Sue K., Thomassen, Mads, Offit, Kenneth, Schmutzler, Rita K., Couch, Fergus J., Simard, Jacques, Chenevix-Trench, Georgia, Easton, Douglas F., Andrieu, Nadine, Antoniou, Antonis C., German Cancer Research Center, National Health and Medical Research Council (Australia), United States of Department of Health & Human Services, National Institute for Health Research (Reino Unido), French National Cancer Institute, Ligue Nationale Contre le Cancer (Francia), Cancer Research UK (Reino Unido), Unión Europea. Comisión Europea, Canadian Institutes of Health Research, Cancer Council New South Wales (Australia), KWF Kankerbestrijding, Instituto de Salud Carlos III, Xunta de Galicia (España), Ministerio de Sanidad, Política Social e Igualdad (España), Helmholtz Association, California Breast Cancer Research Program, Federal Ministry of Education & Research (Alemania), Government of Netherlands, Russian Foundation for Basic Research, O’Mara, Tracy A. [0000-0002-5436-3232], Dennis, Joe [0000-0003-4591-1214], Tyrer, Jonathan P. [0000-0003-3724-4757], Barnes, Daniel R. [0000-0002-3781-7570], Leslie, Goska [0000-0001-5756-6222], Ahearn, Thomas [0000-0003-0771-7752], Andrulis, Irene L. [0000-0002-4226-6435], Arndt, Volker [0000-0001-9320-8684], Azzollini, Jacopo [0000-0002-9364-9778], Barrowdale, Daniel [0000-0003-1661-3939], Becher, Heko [0000-0002-8808-6667], Bernstein, Leslie [0000-0002-7692-6518], Bojesen, Stig E. [0000-0002-4061-4133], Bonanni, Bernardo [0000-0003-3589-2128], Brauch, Hiltrud [0000-0001-7531-2736], Caldés, Trinidad [0000-0002-1038-5392], Chanock, Stephen J. [0000-0002-2324-3393], Chung, Wendy K. [0000-0003-3438-5685], Claes, Kathleen B. M. [0000-0003-0841-7372], Collée, J. Margriet [0000-0002-9272-9346], Devilee, Peter [0000-0002-8023-2009], Dörk, Thilo [0000-0002-9458-0282], Dunning, Alison M. [0000-0001-6651-7166], Dwek, Miriam [0000-0001-7184-2932], Eliassen, A. Heather [0000-0002-3961-6609], Fritschi, Lin [0000-0002-7692-3560], García-Closas, Montserrat [0000-0003-1033-2650], García-Sáenz, José A. [0000-0001-6880-0301], Gayther, Simon A. [0000-0001-7937-5443], Giles, Graham G. [0000-0003-4946-9099], Greene, Mark H. [0000-0003-1852-9239], Guénel, Pascal [0000-0002-8359-518X], Håkansson, Niclas [0000-0001-7673-5554], Hart, Steven N. [0000-0001-7714-2734], He, Wei [0000-0003-0161-3274], Hollestelle, Antoinette [0000-0003-1166-1966], Hulick, Peter J. [0000-0001-8397-4078], Jakubowska, Anna [0000-0002-5650-0501], James, Paul A. [0000-0002-4361-4657], Jensen, Uffe Birk [0000-0002-6205-6355], Jones, Michael E. [0000-0001-7479-3451], Kapoor, Pooja Middha [0000-0001-5503-8215], Keeman, Renske [0000-0002-5452-9933], Kraft, Peter [0000-0002-4472-8103], Kurian, Allison W. [0000-0002-6175-9470], Lambrechts, Diether [0000-0002-3429-302X], Lesueur, Fabienne [0000-0001-7404-4549], Martens, John W. M. [0000-0002-3428-3366], Miller, Austin [0000-0001-9739-8462], Milne, Roger L. [0000-0001-5764-7268], Nathanson, Katherine L. [0000-0002-6740-0901], Nevanlinna, Heli [0000-0002-0916-2976], Olopade, Olufunmilayo I. [0000-0002-9936-1599], Olson, Janet E. [0000-0003-4944-7789], Ottini, Laura [0000-0001-8030-0449], Parsons, Michael T. [0000-0003-3242-8477], Pedersen, Inge Sokilde [0000-0002-9902-8040], Peshkin, Beth [0000-0002-2997-4701], Peterlongo, Paolo [0000-0001-6951-6855], Peto, Julian [0000-0002-1685-8912], Pharoah, Paul D. P. [0000-0001-8494-732X], Punie, Kevin [0000-0002-1162-7963], Radice, Paolo [0000-0001-6298-4111], Rennert, Gad [0000-0002-8512-068X], Robson, Mark [0000-0002-3109-1692], Romero, Atocha [0000-0002-1634-7397], Saloustros, Emmanouil [0000-0002-0485-0120], Sandler, Dale P. [0000-0002-6776-0018], Schmidt, Marjanka K. [0000-0002-2228-429X], Scott, Christopher [0000-0003-1340-0647], Stone, Jennifer [0000-0001-5077-0124], Toland, Amanda E. [0000-0002-0271-1792], Truong, Thérèse [0000-0002-2943-6786], Vachon, Celine M. [0000-0002-1962-9322], Vega, Ana [0000-0002-7416-5137], Vijai, Joseph [0000-0002-7933-151X], Weitzel, Jeffrey N. [0000-0001-6714-092X], Wolk, Alicja [0000-0001-7387-6845], Yadav, Siddhartha [0000-0003-4630-9903], Yannoukakos, Drakoulis [0000-0001-7509-3510], Ziogas, Argyrios [0000-0003-4529-3727], Zorn, Kristin K. [0000-0003-2143-8979], Park, Sue K. [0000-0001-5002-9707], Simard, Jacques [0000-0001-6906-3390], Easton, Douglas F. [0000-0003-2444-3247], Apollo - University of Cambridge Repository, Becher, Heiko [0000-0002-8808-6667], RS: GROW - R4 - Reproductive and Perinatal Medicine, MUMC+: DA KG Polikliniek (9), Klinische Genetica, German Cancer Research Center (DKFZ), National Health and Medical Research Council of Australia, United States Department of Health & Human Services National Institutes of Health (NIH) - USA, National Institute for Health Research (NIHR), Institut National du Cancer (INCA) France, Ligue nationale contre le cancer, Cancer Research UK, European Commision, Canadian Institutes of Health Research (CIHR), Cancer Council New South Wales, Accion Estrategica de Salud del Instituto de Salud Carlos III FIS Intrasalud, Xunta de Galicia, Fomento de la Investigacion Clinica Independiente, Ministerio de Sanidad, Servicios Sociales e Igualdad, Spain, Fondo de Investigacion Sanitario, California Breast Cancer Research Fund, Federal Ministry of Education & Research (BMBF), Netherlands Government, Russian Foundation for Basic Research (RFBR), O'Mara, Tracy A [0000-0002-5436-3232], Tyrer, Jonathan P [0000-0003-3724-4757], Barnes, Daniel R [0000-0002-3781-7570], Andrulis, Irene L [0000-0002-4226-6435], Bojesen, Stig E [0000-0002-4061-4133], Chanock, Stephen J [0000-0002-2324-3393], Chung, Wendy K [0000-0003-3438-5685], Claes, Kathleen BM [0000-0003-0841-7372], Collée, J Margriet [0000-0002-9272-9346], Dunning, Alison M [0000-0001-6651-7166], Eliassen, A Heather [0000-0002-3961-6609], García-Sáenz, José A [0000-0001-6880-0301], Gayther, Simon A [0000-0001-7937-5443], Giles, Graham G [0000-0003-4946-9099], Greene, Mark H [0000-0003-1852-9239], Hart, Steven N [0000-0001-7714-2734], Hulick, Peter J [0000-0001-8397-4078], James, Paul A [0000-0002-4361-4657], Jones, Michael E [0000-0001-7479-3451], Kurian, Allison W [0000-0002-6175-9470], Martens, John WM [0000-0002-3428-3366], Milne, Roger L [0000-0001-5764-7268], Nathanson, Katherine L [0000-0002-6740-0901], Olopade, Olufunmilayo I [0000-0002-9936-1599], Olson, Janet E [0000-0003-4944-7789], Parsons, Michael T [0000-0003-3242-8477], Pharoah, Paul DP [0000-0001-8494-732X], Sandler, Dale P [0000-0002-6776-0018], Schmidt, Marjanka K [0000-0002-2228-429X], Toland, Amanda E [0000-0002-0271-1792], Vachon, Celine M [0000-0002-1962-9322], Weitzel, Jeffrey N [0000-0001-6714-092X], Zorn, Kristin K [0000-0003-2143-8979], Park, Sue K [0000-0001-5002-9707], Easton, Douglas F [0000-0003-2444-3247], HUS Comprehensive Cancer Center, Department of Oncology, Clinicum, INDIVIDRUG - Individualized Drug Therapy, HUS Gynecology and Obstetrics, Department of Obstetrics and Gynecology, Institut Català de la Salut, [Coignard J] Genetic Epidemiology of Cancer team, Inserm, U900, Paris, France. Institut Curie Paris, Paris, France. Mines ParisTech Fontainebleau, Paris, France. Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK. PSL University Paris, Paris, France. Paris Sud University, Orsay, France. [Lush M, Dennis J] Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK. [Beesley J, O'Mara TA] Department of Genetics and Computational Biology QIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia. [Tyrer JP] Centre for Cancer Genetic Epidemiology, Department of Oncology University of Cambridge, Cambridge, UK. [Diez O] Oncogenetics Group, Vall d’Hebron Institute of Oncology (VHIO), Barcelona, Spain. Àrea de Genètica Clínica i Molecular, Vall d’Hebron Hospital Universitari, Barcelona, Spain. [Lopez-Fernández A] High Risk and Cancer Prevention Group, Vall d’Hebron Institute of Oncology (VHIO), Barcelona, Spain, Vall d'Hebron Barcelona Hospital Campus, Basic and Translational Research and Imaging Methodology Development in Groningen (BRIDGE), Life Course Epidemiology (LCE), Damage and Repair in Cancer Development and Cancer Treatment (DARE), Targeted Gynaecologic Oncology (TARGON), Human Genetics, ARD - Amsterdam Reproduction and Development, Human genetics, Amsterdam Neuroscience - Complex Trait Genetics, CCA - Cancer biology and immunology, Clinical Genetics, Medical Oncology, Pathology, and Radiology & Nuclear Medicine
- Subjects
0301 basic medicine ,Linkage disequilibrium ,endocrine system diseases ,Neoplasms::Neoplasms by Site::Breast Neoplasms [DISEASES] ,45/43 ,General Physics and Astronomy ,Genome-wide association study ,Linkage Disequilibrium ,Breast cancer ,0302 clinical medicine ,3123 Gynaecology and paediatrics ,Risk Factors ,Genotype ,breast neoplasms ,Medicine and Health Sciences ,631/208/68 ,skin and connective tissue diseases ,Cancer genetics ,adult ,alleles ,BRCA1 protein ,BRCA2 protein ,female ,genetic predisposition to disease ,genome-wide association study ,genotype ,humans ,linkage disequilibrium ,middle aged ,mutation ,quantitative trait loci ,risk factors ,polymorphism, single nucleotide ,HEBON Investigators ,Genetics ,neoplasias::neoplasias por localización::neoplasias de la mama [ENFERMEDADES] ,education.field_of_study ,Women's cancers Radboud Institute for Molecular Life Sciences [Radboudumc 17] ,Multidisciplinary ,Otros calificadores::Otros calificadores::/genética [Otros calificadores] ,BRCA1 Protein ,Genetic Predisposition to Disease/genetics ,article ,Single Nucleotide ,Middle Aged ,BRCA2 Protein/genetics ,3. Good health ,Mama - Càncer - Factors de risc ,030220 oncology & carcinogenesis ,Mutation (genetic algorithm) ,Genome-Wide Association Study/methods ,Medical genetics ,Female ,Medical Genetics ,692/499 ,Adult ,medicine.medical_specialty ,45/61 ,Science ,3122 Cancers ,Population ,Quantitative Trait Loci ,Genetic Phenomena::Genetic Variation::Mutation [PHENOMENA AND PROCESSES] ,ABCTB Investigators ,631/67/2324 ,Breast Neoplasms ,Biology ,Breast Neoplasms/genetics ,Polymorphism, Single Nucleotide ,General Biochemistry, Genetics and Molecular Biology ,Càncer de mama ,GEMO Study Collaborators ,03 medical and health sciences ,Cancer epidemiology ,SDG 3 - Good Health and Well-being ,Other subheadings::Other subheadings::/genetics [Other subheadings] ,medicine ,Humans ,Genetic Predisposition to Disease ,Allele ,Polymorphism ,education ,EMBRACE Collaborators ,fenómenos genéticos::variación genética::mutación [FENÓMENOS Y PROCESOS] ,Alleles ,Medicinsk genetik ,BRCA2 Protein ,Mutació (Biologia) ,General Chemistry ,631/67/1347 ,Genotype frequency ,030104 developmental biology ,Mutation ,Mama - Càncer - Aspectes genètics ,BRCA1 Protein/genetics ,3111 Biomedicine ,KConFab Investigators ,Quantitative Trait Loci/genetics ,Genètica ,Genome-Wide Association Study - Abstract
Breast cancer (BC) risk for BRCA1 and BRCA2 mutation carriers varies by genetic and familial factors. About 50 common variants have been shown to modify BC risk for mutation carriers. All but three, were identified in general population studies. Other mutation carrier-specific susceptibility variants may exist but studies of mutation carriers have so far been underpowered. We conduct a novel case-only genome-wide association study comparing genotype frequencies between 60,212 general population BC cases and 13,007 cases with BRCA1 or BRCA2 mutations. We identify robust novel associations for 2 variants with BC for BRCA1 and 3 for BRCA2 mutation carriers, P, Breast cancer risk for BRCA1/BRCA2 mutation carriers varies depending on other genetic factors. Here, the authors perform a case-only genome-wide association study and highlight novel loci associated with breast cancer risk for BRCA1/BRCA2 mutation carriers.
- Published
- 2021
- Full Text
- View/download PDF
33. Breast and Prostate Cancer Risks for Male BRCA1 and BRCA2 Pathogenic Variant Carriers Using Polygenic Risk Scores
- Author
-
Barnes, Daniel R, Silvestri, Valentina, Leslie, Goska, McGuffog, Lesley, Dennis, Joe, Yang, Xin, Adlard, Julian, Agnarsson, Bjarni A, Ahmed, Munaza, Aittomäki, Kristiina, Andrulis, Irene L, Arason, Adalgeir, Arnold, Norbert, Auber, Bernd, Azzollini, Jacopo, Balmaña, Judith, Barkardottir, Rosa B, Barrowdale, Daniel, Barwell, Julian, Belotti, Muriel, Benitez, Javier, Berthet, Pascaline, Boonen, Susanne E, Borg, Åke, Bozsik, Aniko, Brady, Angela F, Brennan, Paul, Brewer, Carole, Brunet, Joan, Bucalo, Agostino, Buys, Saundra S, Caldés, Trinidad, Caligo, Maria A, Campbell, Ian, Cassingham, Hayley, Christensen, Lise Lotte, Cini, Giulia, Claes, Kathleen BM, GEMO Study Collaborators, EMBRACE Collaborators, Cook, Jackie, Coppa, Anna, Cortesi, Laura, Damante, Giuseppe, Darder, Esther, Davidson, Rosemarie, de la Hoya, Miguel, De Leeneer, Kim, de Putter, Robin, Del Valle, Jesús, Diez, Orland, Ding, Yuan Chun, Domchek, Susan M, Donaldson, Alan, Eason, Jacqueline, Eeles, Ros, Engel, Christoph, Evans, D Gareth, Feliubadaló, Lidia, Fostira, Florentia, Frone, Megan, Frost, Debra, Gallagher, David, Gehrig, Andrea, Giraud, Sophie, Glendon, Gord, Godwin, Andrew K, Goldgar, David E, Greene, Mark H, Gregory, Helen, Gross, Eva, Hahnen, Eric, Hamann, Ute, Hansen, Thomas VO, Hanson, Helen, Hentschel, Julia, Horvath, Judit, KConFab Investigators, HEBON Investigators, Izatt, Louise, Izquierdo, Angel, James, Paul A, Janavicius, Ramunas, Jensen, Uffe Birk, Johannsson, Oskar Th, John, Esther M, Kramer, Gero, Kroeldrup, Lone, Kruse, Torben A, Lautrup, Charlotte, Lazaro, Conxi, Lesueur, Fabienne, Lopez-Fernández, Adria, Mai, Phuong L, Manoukian, Siranoush, Matrai, Zoltan, Matricardi, Laura, Maxwell, Kara N, Mebirouk, Noura, Meindl, Alfons, Montagna, Marco, Monteiro, Alvaro N, Morrison, Patrick J, Muranen, Taru A, Murray, Alex, Nathanson, Katherine L, Neuhausen, Susan L, Nevanlinna, Heli, Nguyen-Dumont, Tu, Niederacher, Dieter, Olah, Edith, Olopade, Olufunmilayo I, Palli, Domenico, Parsons, Michael T, Pedersen, Inge Sokilde, Peissel, Bernard, Perez-Segura, Pedro, Peterlongo, Paolo, Petersen, Annabeth H, Pinto, Pedro, Porteous, Mary E, Pottinger, Caroline, Pujana, Miquel Angel, Radice, Paolo, Ramser, Juliane, Rantala, Johanna, Robson, Mark, Rogers, Mark T, Rønlund, Karina, Rump, Andreas, Sánchez de Abajo, Ana María, Shah, Payal D, Sharif, Saba, Side, Lucy E, Singer, Christian F, Stadler, Zsofia, Steele, Linda, Stoppa-Lyonnet, Dominique, Sutter, Christian, Tan, Yen Yen, Teixeira, Manuel R, Teulé, Alex, Thull, Darcy L, Tischkowitz, Marc, Toland, Amanda E, Tommasi, Stefania, Toss, Angela, Trainer, Alison H, Tripathi, Vishakha, Valentini, Virginia, van Asperen, Christi J, Venturelli, Marta, Viel, Alessandra, Vijai, Joseph, Walker, Lisa, Wang-Gohrke, Shan, Wappenschmidt, Barbara, Whaite, Anna, Zanna, Ines, Offit, Kenneth, Thomassen, Mads, Couch, Fergus J, Schmutzler, Rita K, Simard, Jacques, Easton, Douglas F, Chenevix-Trench, Georgia, Antoniou, Antonis C, Ottini, Laura, Consortium of Investigators of Modifiers of BRCA1 and BRCA2, Barnes, Daniel R [0000-0002-3781-7570], Silvestri, Valentina [0000-0003-0712-9379], Leslie, Goska [0000-0001-5756-6222], Dennis, Joe [0000-0003-4591-1214], Yang, Xin [0000-0003-0037-3790], Adlard, Julian [0000-0002-1693-0435], Agnarsson, Bjarni A [0000-0001-7721-9965], Andrulis, Irene L [0000-0002-4226-6435], Arason, Adalgeir [0000-0003-0480-886X], Arnold, Norbert [0000-0003-4523-8808], Auber, Bernd [0000-0003-1880-291X], Azzollini, Jacopo [0000-0002-9364-9778], Barkardottir, Rosa B [0000-0003-0629-2772], Barrowdale, Daniel [0000-0003-1661-3939], Benitez, Javier [0000-0002-0923-7202], Boonen, Susanne E [0000-0002-7824-2080], Bozsik, Aniko [0000-0001-5410-9173], Brennan, Paul [0000-0003-1128-6254], Brunet, Joan [0000-0003-1945-3512], Bucalo, Agostino [0000-0003-3475-1067], Caligo, Maria A [0000-0003-0589-1829], Campbell, Ian [0000-0002-7773-4155], Cassingham, Hayley [0000-0001-9922-2321], Cini, Giulia [0000-0002-8696-8922], Claes, Kathleen BM [0000-0003-0841-7372], Coppa, Anna [0000-0001-9758-5444], Cortesi, Laura [0000-0001-8950-8561], Darder, Esther [0000-0002-7764-1397], de la Hoya, Miguel [0000-0002-8113-1410], de Putter, Robin [0000-0001-9410-8941], Del Valle, Jesús [0000-0003-3607-7045], Domchek, Susan M [0000-0002-5914-7272], Donaldson, Alan [0000-0001-9193-4172], Eason, Jacqueline [0000-0002-8711-8671], Engel, Christoph [0000-0002-7247-282X], Fostira, Florentia [0000-0003-2751-2332], Frone, Megan [0000-0001-8273-8866], Glendon, Gord [0000-0001-8630-6673], Godwin, Andrew K [0000-0002-3987-9580], Greene, Mark H [0000-0003-1852-9239], Hahnen, Eric [0000-0003-2448-7872], Hanson, Helen [0000-0002-3303-8713], Izatt, Louise [0000-0003-1258-4843], Izquierdo, Angel [0000-0003-2004-3246], James, Paul A [0000-0002-4361-4657], John, Esther M [0000-0003-3259-8003], Kroeldrup, Lone [0000-0003-3623-6536], Kruse, Torben A [0000-0002-2460-6483], Lazaro, Conxi [0000-0002-7198-5906], Lesueur, Fabienne [0000-0001-7404-4549], Matrai, Zoltan [0000-0001-8160-7100], Montagna, Marco [0000-0002-4929-2150], Monteiro, Alvaro N [0000-0002-8448-4801], Morrison, Patrick J [0000-0002-2823-1762], Muranen, Taru A [0000-0002-5895-1808], Nathanson, Katherine L [0000-0002-6740-0901], Neuhausen, Susan L [0000-0001-5053-0390], Nevanlinna, Heli [0000-0002-0916-2976], Nguyen-Dumont, Tu [0000-0002-6217-0182], Niederacher, Dieter [0000-0001-6231-9226], Palli, Domenico [0000-0002-5558-2437], Parsons, Michael T [0000-0003-3242-8477], Perez-Segura, Pedro [0000-0001-5049-7199], Peterlongo, Paolo [0000-0001-6951-6855], Pinto, Pedro [0000-0001-6289-5792], Pottinger, Caroline [0000-0003-4233-882X], Radice, Paolo [0000-0001-6298-4111], Robson, Mark [0000-0002-3109-1692], Rump, Andreas [0000-0001-7116-6364], Sharif, Saba [0000-0002-9564-4890], Steele, Linda [0000-0003-3628-2022], Stoppa-Lyonnet, Dominique [0000-0002-5438-8309], Teixeira, Manuel R [0000-0002-4896-5982], Thull, Darcy L [0000-0001-7999-2804], Tischkowitz, Marc [0000-0002-7880-0628], Toland, Amanda E [0000-0002-0271-1792], Tommasi, Stefania [0000-0002-2157-2978], Toss, Angela [0000-0002-1854-6701], Tripathi, Vishakha [0000-0001-8118-8364], Valentini, Virginia [0000-0003-3393-7185], van Asperen, Christi J [0000-0002-1436-7650], Venturelli, Marta [0000-0003-0658-8004], Viel, Alessandra [0000-0003-2804-0840], Vijai, Joseph [0000-0002-7933-151X], Whaite, Anna [0000-0003-4485-0341], Simard, Jacques [0000-0001-6906-3390], Easton, Douglas F [0000-0003-2444-3247], Chenevix-Trench, Georgia [0000-0002-1878-2587], Ottini, Laura [0000-0001-8030-0449], and Apollo - University of Cambridge Repository
- Subjects
Aged, 80 and over ,BRCA2 Protein ,Male ,Heterozygote ,BRCA1 Protein ,Prostatic Neoplasms ,Breast Neoplasms ,Polymorphism, Single Nucleotide ,Risk Assessment ,Risk Factors ,Mutation ,Humans ,Genetic Predisposition to Disease ,skin and connective tissue diseases - Abstract
BACKGROUND: Recent population-based female breast cancer and prostate cancer polygenic risk scores (PRS) have been developed. We assessed the associations of these PRS with breast and prostate cancer risks for male BRCA1 and BRCA2 pathogenic variant carriers. METHODS: 483 BRCA1 and 1318 BRCA2 European ancestry male carriers were available from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA). A 147-single nucleotide polymorphism (SNP) prostate cancer PRS (PRSPC) and a 313-SNP breast cancer PRS were evaluated. There were 3 versions of the breast cancer PRS, optimized to predict overall (PRSBC), estrogen receptor (ER)-negative (PRSER-), or ER-positive (PRSER+) breast cancer risk. RESULTS: PRSER+ yielded the strongest association with breast cancer risk. The odds ratios (ORs) per PRSER+ standard deviation estimates were 1.40 (95% confidence interval [CI] =1.07 to 1.83) for BRCA1 and 1.33 (95% CI = 1.16 to 1.52) for BRCA2 carriers. PRSPC was associated with prostate cancer risk for BRCA1 (OR = 1.73, 95% CI = 1.28 to 2.33) and BRCA2 (OR = 1.60, 95% CI = 1.34 to 1.91) carriers. The estimated breast cancer odds ratios were larger after adjusting for female relative breast cancer family history. By age 85 years, for BRCA2 carriers, the breast cancer risk varied from 7.7% to 18.4% and prostate cancer risk from 34.1% to 87.6% between the 5th and 95th percentiles of the PRS distributions. CONCLUSIONS: Population-based prostate and female breast cancer PRS are associated with a wide range of absolute breast and prostate cancer risks for male BRCA1 and BRCA2 carriers. These findings warrant further investigation aimed at providing personalized cancer risks for male carriers and informing clinical management.
- Published
- 2022
34. Risks of breast and ovarian cancer for women harboring pathogenic missense variants in BRCA1 and BRCA2 compared with those harboring protein truncating variants
- Author
-
Georgia Chenevix-Trench, Melissa C. Southey, Ramunas Janavicius, Abigail Thomas, Mads Thomassen, Ana Vega, Paul A. James, David E. Goldgar, Xin Yang, Marco Montagna, Charlotte Kvist Lautrup, Trinidad Caldés, Åke Borg, Henriette Roed Nielsen, Christi J. van Asperen, Amanda E. Toland, Diana Eccles, Siranoush Manoukian, Barbara Wappenschmidt, Angela R. Solano, Pål Møller, Tina Selkirk, John L. Hopper, Maria A. Caligo, Judy Kirk, Paolo Peterlongo, Susanne E. Boonen, Alberto Zambelli, Amanda B. Spurdle, Conxi Lázaro, Paolo Radice, Lone Kroeldrup, Fergus J. Couch, Irene L. Andrulis, Thomas Hansen, Ute Hamann, Esther M. John, Hongyan Li, Christoph Engel, Edenir Inêz Palmero, Sarah M. Nielsen, Mary Beth Terry, Judy Garber, Goska Leslie, Drakoulis Yannoukakos, Antonis C. Antoniou, Luca Livraghi, Ava Kwong, Inge Søkilde Pedersen, Miguel de la Hoya, Rita K. Schmutzler, Barbara Pasini, Michael T. Parsons, Mark H. Greene, Liliana Varesco, Lenka Foretova, Marc Tischkowitz, Susan M. Domchek, Heather Thorne, Anne-Marie Gerdes, Sandrine M. Caputo, Antoniou, Antonis [0000-0001-9223-3116], Leslie, Goska [0000-0001-5756-6222], Tischkowitz, Marc [0000-0002-7880-0628], and Apollo - University of Cambridge Repository
- Subjects
Oncology ,medicine.medical_specialty ,BRCA1 ,BRCA2 ,Cancer risks ,Missense variants ,BRCA1 Protein ,BRCA2 Protein ,Female ,Genes, BRCA1 ,Genes, BRCA2 ,Genetic Predisposition to Disease ,Genetic Testing ,Germ-Line Mutation ,Humans ,Middle Aged ,Breast Neoplasms ,Ovarian Neoplasms ,endocrine system diseases ,Pedigree chart ,Germline ,Article ,Breast cancer ,Internal medicine ,medicine ,Missense mutation ,skin and connective tissue diseases ,Genetics (clinical) ,Genetic testing ,medicine.diagnostic_test ,business.industry ,Hazard ratio ,Cancer ,medicine.disease ,Genes ,cardiovascular system ,business ,Ovarian cancer - Abstract
Purpose: Germline genetic testing for BRCA1 and BRCA2 variants has been a part of clinical practice for >2 decades. However, no studies have compared the cancer risks associated with missense pathogenic variants (PVs) with those associated with protein truncating (PTC) variants.Methods: We collected 582 informative pedigrees segregating 1 of 28 missense PVs in BRCA1 and 153 pedigrees segregating 1 of 12 missense PVs in BRCA2. We analyzed 324 pedigrees with PTC variants in BRCA1 and 214 pedigrees with PTC variants in BRCA2. Cancer risks were estimated using modified segregation analysis.Results: Estimated breast cancer risks were markedly lower for women aged >50 years carrying BRCA1 missense PVs than for the women carrying BRCA1 PTC variants (hazard ratio [HR] = 3.9 [2.4-6.2] for PVs vs 12.8 [5.7-28.7] for PTC variants; P =.01), particularly for missense PVs in the BRCA1 C-terminal domain (HR = 2.8 [1.4-5.6]; P =.005). In case of BRCA2, for women aged >50 years, the HR was 3.9 (2.0-7.2) for those heterozygous for missense PVs compared with 7.0 (3.3-14.7) for those harboring PTC variants. BRCA1 p.[Cys64Arg] and BRCA2 p.[Trp2626Cys] were associated with particularly low risks of breast cancer compared with other PVs.Conclusion: These results have important implications for the counseling of at-risk women who harbor missense PVs in the BRCA1/2 genes. (C) 2021 American College of Medical Genetics and Genomics. Published by Elsevier Inc. All rights reserved.
- Published
- 2022
- Full Text
- View/download PDF
35. sj-docx-1-ras-10.1177_00208523221126860 - Supplemental material for Corruption risk analysis in local public procurement: a look at the Àrea Metropolitana de Barcelona
- Author
-
Díaz, Javier Miranzo, Martinez, Agustí Cerrillo i, Caldés, Ramon Galindo, and Carranza, Judith Castro
- Subjects
160509 Public Administration ,FOS: Political science ,160607 International Relations - Abstract
Supplemental material, sj-docx-1-ras-10.1177_00208523221126860 for Corruption risk analysis in local public procurement: a look at the Àrea Metropolitana de Barcelona by Javier Miranzo Díaz, Agustí Cerrillo i Martinez, Ramon Galindo Caldés and Judith Castro Carranza in International Review of Administrative Sciences
- Published
- 2022
- Full Text
- View/download PDF
36. Additional file 1 of Colorectal cancer incidences in Lynch syndrome: a comparison of results from the prospective lynch syndrome database and the international mismatch repair consortium
- Author
-
Møller, Pål, Seppälä, Toni, Dowty, James G., Haupt, Saskia, Dominguez-Valentin, Mev, Sunde, Lone, Bernstein, Inge, Engel, Christoph, Aretz, Stefan, Nielsen, Maartje, Capella, Gabriel, Evans, Dafydd Gareth, Burn, John, Holinski-Feder, Elke, Bertario, Lucio, Bonanni, Bernardo, Lindblom, Annika, Levi, Zohar, Macrae, Finlay, Winship, Ingrid, Plazzer, John-Paul, Sijmons, Rolf, Laghi, Luigi, Valle, Adriana Della, Heinimann, Karl, Half, Elizabeth, Lopez-Koestner, Francisco, Alvarez-Valenzuela, Karin, Scott, Rodney J., Katz, Lior, Laish, Ido, Vainer, Elez, Vaccaro, Carlos Alberto, Carraro, Dirce Maria, Gluck, Nathan, Abu-Freha, Naim, Stakelum, Aine, Kennelly, Rory, Winter, Des, Rossi, Benedito Mauro, Greenblatt, Marc, Bohorquez, Mabel, Sheth, Harsh, Tibiletti, Maria Grazia, Lino-Silva, Leonardo S., Horisberger, Karoline, Portenkirchner, Carmen, Nascimento, Ivana, Rossi, Norma Teresa, da Silva, Leandro Apolinário, Thomas, Huw, Zaránd, Attila, Mecklin, Jukka-Pekka, Pylvänäinen, Kirsi, Renkonen-Sinisalo, Laura, Lepisto, Anna, Peltomäki, Päivi, Therkildsen, Christina, Lindberg, Lars Joachim, Thorlacius-Ussing, Ole, von Knebel Doeberitz, Magnus, Loeffler, Markus, Rahner, Nils, Steinke-Lange, Verena, Schmiegel, Wolff, Vangala, Deepak, Perne, Claudia, Hüneburg, Robert, de Vargas, Aída Falcón, Latchford, Andrew, Gerdes, Anne-Marie, Backman, Ann-Sofie, Guillén-Ponce, Carmen, Snyder, Carrie, Lautrup, Charlotte K., Amor, David, Palmero, Edenir, Stoffel, Elena, Duijkers, Floor, Hall, Michael J., Hampel, Heather, Williams, Heinric, Okkels, Henrik, Lubiński, Jan, Reece, Jeanette, Ngeow, Joanne, Guillem, Jose G., Arnold, Julie, Wadt, Karin, Monahan, Kevin, Senter, Leigha, Rasmussen, Lene J., van Hest, Liselotte P., Ricciardiello, Luigi, Kohonen-Corish, Maija R. J., Ligtenberg, Marjolijn J. L., Southey, Melissa, Aronson, Melyssa, Zahary, Mohd N., Samadder, N. Jewel, Poplawski, Nicola, Hoogerbrugge, Nicoline, Morrison, Patrick J., James, Paul, Lee, Grant, Chen-Shtoyerman, Rakefet, Ankathil, Ravindran, Pai, Rish, Ward, Robyn, Parry, Susan, Dębniak, Tadeusz, John, Thomas, van Overeem Hansen, Thomas, Caldés, Trinidad, Yamaguchi, Tatsuro, Barca-Tierno, Verónica, Garre, Pilar, Cavestro, Giulia Martina, Weitz, Jürgen, Redler, Silke, Büttner, Reinhard, Heuveline, Vincent, Hopper, John L., Win, Aung Ko, Lindor, Noralane, Gallinger, Steven, Le Marchand, Loïc, Newcomb, Polly A., Figueiredo, Jane, Buchanan, Daniel D., Thibodeau, Stephen N., ten Broeke, Sanne W., Hovig, Eivind, Nakken, Sigve, Pineda, Marta, Dueñas, Nuria, Brunet, Joan, Green, Kate, Lalloo, Fiona, Newton, Katie, Crosbie, Emma J., Mints, Miriam, Tjandra, Douglas, Neffa, Florencia, Esperon, Patricia, Kariv, Revital, Rosner, Guy, Pavicic, Walter Hernán, Kalfayan, Pablo, Torrezan, Giovana Tardin, Bassaneze, Thiago, Martin, Claudia, Moslein, Gabriela, Ahadova, Aysel, Kloor, Matthias, Sampson, Julian R., and Jenkins, Mark A.
- Abstract
Additional file 1.
- Published
- 2022
- Full Text
- View/download PDF
37. Local Government and the COVID-19 Pandemic
- Author
-
Ramon Galindo Caldés and Valentina Castronuovo
- Published
- 2022
- Full Text
- View/download PDF
38. Administrative Boundaries and Covid-19: The Case of Catalonia, Spain
- Author
-
Ramon Galindo Caldés, Joan Tort Donada, and Albert Santasusagna Riu
- Published
- 2022
- Full Text
- View/download PDF
39. T cells isolated from G-CSF-treated multiple myeloma patients are suitable for the generation of BCMA-directed CAR-T cells
- Author
-
Anthony M. Battram, Aina Oliver-Caldés, Maria Suárez-Lledó, Miquel Lozano, Miquel Bosch i Crespo, Núria Martínez-Cibrián, Joan Cid, David F. Moreno, Luis Gerardo Rodríguez-Lobato, Alvaro Urbano-Ispizua, and Carlos Fernández de Larrea
- Subjects
CAR-T cells ,Teràpia cel·lular ,Cellular therapy ,Mieloma múltiple ,T cells ,G-CSF ,Expressió gènica ,BCMA ,Cèl·lules T ,Multiple myeloma ,Genetics ,Molecular Medicine ,Gene expression ,ASCT ,Molecular Biology ,ARI0002 - Abstract
We are extremely grateful to the patients for participating in this study and to the nurses from the Department of Haematology and the Apheresis Unit at Hospital Clínic, particularly Maria Teresa Solano Moliner, for their invaluable work in obtaining patient samples. In addition, we acknowledge the Multiple Myeloma Research Center (Little Rock, AK) for providing the ARP-1 cell line and Amer Najjar for providing the plasmid coding for GFP-ffLuc. Finally, we thank the "la Caixa" Foundation (CP042702), the Spanish Institute of Health Carlos III (projects: PI19/00669 and ICI19/00025 ; co-funded by the European Union), and the AECC (LABAE21971FERN) for providing funding for this study. We are extremely grateful to the patients for participating in this study and to the nurses from the Department of Haematology and the Apheresis Unit at Hospital Clínic, particularly Maria Teresa Solano Moliner, for their invaluable work in obtaining patient samples. In addition, we acknowledge the Multiple Myeloma Research Center (Little Rock, AK) for providing the ARP-1 cell line and Amer Najjar for providing the plasmid coding for GFP-ffLuc. Finally, we thank the "la Caixa" Foundation (CP042702), the Spanish Institute of Health Carlos III (projects: PI19/00669 and ICI19/00025; co-funded by the European Union), and the AECC (LABAE21971FERN) for providing funding for this study. Conceptualization, A.M.B. A.U.-I. and C.F.d.L.; data curation, A.M.B.; formal analysis, A.M.B.; funding acquisition, A.U.-I. and C.F.d.L.; investigation, A.M.B. A.O.-C. M.B.i.C. and D.F.M.; methodology, A.M.B.; project administration, A.M.B. A.U.-I. and C.F.d.L.; resources, M.S.-L. M.L. N.M.-C. J.C. A.U.-I. and C.F.d.L.; supervision, C.F.d.L.; visualization, A.M.B.; writing - original draft, A.M.B.; writing - review & editing, A.M.B. L.G.R.-L. A.U.-I. and C.F.d.L. All authors have reviewed and approved the final version of this manuscript. The authors declare no competing interests. Autologous cell immunotherapy using B cell maturation antigen (BCMA)-targeted chimeric antigen receptor (CAR)-T cells is an effective novel treatment for multiple myeloma (MM). This therapy has only been used for relapsed and refractory patients, at which stage the endogenous T cells used to produce the CAR-T cells are affected by the immunosuppressive nature of advanced MM and/or side effects of previous therapies. An alternative pool of "fitter" T cells is found in leukocytoapheresis products that are routinely collected to obtain hematopoietic progenitor cells for autologous stem cell transplantation (ASCT) early in the treatment of MM. However, to mobilize the progenitor cells, patients are dosed with granulocyte colony-stimulating factor (G-CSF), which is reported to adversely affect T cell proliferation, function, and differentiation. Here, we aimed to first establish whether G-CSF treatment negatively influences T cell phenotype and to ascertain whether previous exposure of T cells to G-CSF is deleterious for anti-BCMA CAR-T cells. We observed that G-CSF had a minimal impact on T cell phenotype when added in vitro or administered to patients. Moreover, we found that CAR-T cell fitness and anti-tumor activity were unaffected when generated from G-CSF-exposed T cells. Overall, we showed that ASCT apheresis products are a suitable source of T cells for anti-BCMA CAR-T cell manufacture.
- Published
- 2022
40. Local Government Response to COVID-19: Some Insights from Spain
- Author
-
Ramon Galindo Caldés and Marc Vilalta Reixach
- Published
- 2022
- Full Text
- View/download PDF
41. Un incendi de sisena generació podria cremar tot Collserola en 8 hores : ho comprovem?
- Author
-
Caldés Camprubí, Genís, Universitat Autònoma de Barcelona. Escola d'Enginyeria, and Cortés Fité, Ana
- Subjects
Ripollet ,LCP ,Landscape ,Windninja ,Collserola ,Simulación ,Shapefile ,Simulació ,FARSITE ,QGIS ,Simulation - Abstract
Aquest projecte es centra sobre la possibilitat que el Parc Natural de la Serra de Collserola pugui cremar en qüestió de unes vuit hores com afirmen experts de la comunitat de bombers com de científics. Duent a terme simulacions amb diferents condicions meteorològiques, de velocitat i direcció del vent, diferents punts d'ignició quin és l'escenari per tal de que l'avís de la comunitat científica sigui real. Utilitzant programes com FARSITE per tal de fer les simulacions o com QGIS per tal de poder visualitzar i comparar resultats definir quins són els paràmetres que més afecten al comportament d'un incendi forestal. This project is focused on the possibility that the Serra de Collserola Natural Park could burn in a matter of eight hours, as experts from the firefighting community and scientists affirm. Carry out simulations with different weather conditions, speed and direction of the wind, different points of ignition, what is the scenario so that the warning of the scientific community is real. Using programs such as FARSITE to make the simulations or QGIS to visualize and compare results to define what are the parameters that most affect the behavior of a forest fire. Este proyecto se centra sobre la posibilidad de que el Parque Natural de la Sierra de Collserola pueda arder en cuestión de unas ocho horas como afirman expertos de la comunidad de bomberos como de científicos. Llevando a cabo simulaciones con diferentes condiciones meteorológicas, de velocidad y dirección del viento, distintos puntos de ignición cuál es el escenario para que el aviso de la comunidad científica sea real. Utilizando programas como FARSITE para realizar las simulaciones o como QGIS para poder visualizar y comparar resultados definir cuáles son los parámetros que más afectan al comportamiento de un incendio forestal.
- Published
- 2022
42. European LeukemiaNet 2017 risk stratification for acute myeloid leukemia: validation in a risk-adapted protocol
- Author
-
Bataller, Alex, Garrido, Ana, Guijarro, Francesca, Oñate, Guadalupe, Díaz-Beyá, Marina, Arnan, Montserrat, Tormo, Mar, Vives, Susana, de Llano, María Paz Queipo, Coll, Rosa, Gallardo, David, Vall-Llovera, Ferran, Escoda, Lourdes, Garcia-Guiñon, Antonio, Salamero, Olga, Sampol, Antònia, Merchan, Brayan M., Bargay, Joan, Castaño-Díez, Sandra, Esteban, Daniel, Oliver-Caldés, Aina, Rivero, Andrea, Mozas, Pablo, López-Guerra, Mònica, Pratcorona, Marta, Zamora, Lurdes, Costa, Dolors, Rozman, Maria, Nomdedeu, Josep, Colomer, Dolors, Brunet, Salut, Sierra, Jorge, Esteve Reyner, Jordi, Universitat Autònoma de Barcelona, Institut Català de la Salut, [Bataller A] Hematology Department, Hospital Clınic de Barcelona, August Pi i Sunyer Biomedical Research Institute (IDIBAPS), University of Barcelona (UB), Barcelona, Spain. Josep Carreras Leukemia Research Institute, Barcelona, Spain. [Garrido A, Oñate G] Josep Carreras Leukemia Research Institute, Barcelona, Spain. Hematology Department, Hospital de la Santa Creu i Sant Pau, Universitat Autonoma de Barcelona (UAB), Barcelona, Spain. [Guijarro F, Diaz-Beyá M] Hematology Department, Hospital Clınic de Barcelona, August Pi i Sunyer Biomedical Research Institute (IDIBAPS), University of Barcelona (UB), Barcelona, Spain. [Arnan M] Hematology Department, Catalan Institute of Oncology (ICO)–Hospital Duran i Reynals, L’Hospitalet de Llobregat, Spain. [Salamero O] Servei d’Hematologia, Vall d’Hebron Hospital Universitari, Barcelona, Spain, and Vall d'Hebron Barcelona Hospital Campus
- Subjects
Leucèmia mieloide ,Otros calificadores::/diagnóstico [Otros calificadores] ,Cytarabine ,Hematopoietic Stem Cell Transplantation ,Neoplasms::Neoplasms by Histologic Type::Leukemia::Leukemia, Myeloid::Leukemia, Myeloid, Acute [DISEASES] ,Hematology ,Risk Assessment ,neoplasias::neoplasias por tipo histológico::leucemia::leucemia mieloide::leucemia mieloide aguda [ENFERMEDADES] ,Leucèmia mieloide aguda - Diagnòstic ,técnicas de investigación::métodos epidemiológicos::estadística como asunto::probabilidad::riesgo::evaluación de riesgos [TÉCNICAS Y EQUIPOS ANALÍTICOS, DIAGNÓSTICOS Y TERAPÉUTICOS] ,Leukemia, Myeloid, Acute ,Myeloid leukemia ,Leucèmia mieloide aguda - Tractament ,Other subheadings::/diagnosis [Other subheadings] ,Humans ,Programes de prevenció ,Avaluació del risc ,Investigative Techniques::Epidemiologic Methods::Statistics as Topic::Probability::Risk::Risk Assessment [ANALYTICAL, DIAGNOSTIC AND THERAPEUTIC TECHNIQUES, AND EQUIPMENT] ,Retrospective Studies ,Prevention programs - Abstract
Risk stratification; Acute myeloid leukemia Estratificació del risc; Leucèmia mieloide aguda Estratificación de riesgo; Leucemia mieloide aguda The 2017 European LeukemiaNet (ELN 2017) guidelines for the diagnosis and management of acute myeloid leukemia (AML) have become fundamental guidelines to assess the prognosis and postremission therapy of patients. However, they have been retrospectively validated in few studies with patients included in different treatment protocols. We analyzed 861 patients included in the Cooperativo Para el Estudio y Tratamiento de las Leucemias Agudas y Mielodisplasias-12 risk-adapted protocol, which indicates cytarabine-based consolidation for patients allocated to the ELN 2017 favorable-risk group, whereas it recommends allogeneic stem cell transplantation (alloSCT) as a postremission strategy for the ELN 2017 intermediate- and adverse-risk groups. We retrospectively classified patients according to the ELN 2017, with 327 (48%), 109 (16%), and 245 (36%) patients allocated to the favorable-, intermediate-, and adverse-risk group, respectively. The 2- and 5-year overall survival (OS) rates were 77% and 70% for favorable-risk patients, 52% and 46% for intermediate-risk patients, and 33% and 23% for adverse-risk patients, respectively. Furthermore, we identified a subgroup of patients within the adverse group (inv(3)/t(3;3), complex karyotype, and/or TP53 mutation/17p abnormality) with a particularly poor outcome, with a 2-year OS of 15%. Our study validates the ELN 2017 risk stratification in a large cohort of patients treated with an ELN-2017 risk-adapted protocol based on alloSCT after remission for nonfavorable ELN subgroups and identifies a genetic subset with a very poor outcome that warrants investigation of novel strategies. This study was supported (in part) by Fondo de Investigaciones Sanitarias/Instituto de Salud Carlos III (ISCIII) grants PI16/01027, PI19/1476, and PI20/01621; Health Research and Innovation Strategic Plan (PERIS) grant SLT002/16/00433 and research group support SGR 1395 and SGR 1655 from Generalitat de Catalunya; resident award “Emili Letang” 2019 (Hospital Clínic de Barcelona); and “Beca de Investigación FEHH 2019” (Fundación Española de Hematologia y Hemoterapia).
- Published
- 2022
43. Breast and Prostate Cancer Risks for Male BRCA1 and BRCA2 Pathogenic Variant Carriers Using Polygenic Risk Scores
- Author
-
Marco Montagna, Mark E. Robson, Daniel Barrowdale, Mark H. Greene, Adrià López-Fernández, Miquel Angel Pujana, Paul Brennan, Lucy Side, Jackie Cook, Munaza Ahmed, Christi J. van Asperen, Katherine L. Nathanson, Ian G. Campbell, Shan Wang-Gohrke, Gero Kramer, Debra Frost, Noura Mebirouk, Angel Izquierdo, Conxi Lázaro, Douglas F. Easton, Joe Dennis, Kenneth Offit, Esther Darder, Stefania Tommasi, Angela Toss, Brca, Virginia Valentini, Tu Nguyen-Dumont, Charlotte Kvist Lautrup, Manuel R. Teixeira, Mads Thomassen, Xin Yang, Susan M. Domchek, Valentina Silvestri, Paolo Radice, Marta Venturelli, Joseph Vijai, Pedro Pinto, Caroline Pottinger, Karina Rønlund, Lone Kroeldrup, Paul A. James, Alan Donaldson, Rita K. Schmutzler, Muriel Belotti, Kim De Leeneer, Lesley McGuffog, Susan L. Neuhausen, Amanda E. Toland, Siranoush Manoukian, Vishakha Tripathi, Adalgeir Arason, Pascaline Berthet, Linda Steele, Judit Horvath, Gord Glendon, Goska Leslie, Eva Gross, Anna Coppa, D. J. Gallagher, Payal D. Shah, Hebon Investigators, Alfons Meindl, Orland Diez, Irene L. Andrulis, Angela F. Brady, Giuseppe Damante, Paolo Peterlongo, Ana Sánchez de Abajo, Maria A. Caligo, Alison H. Trainer, Sophie Giraud, Saba Sharif, Christian Sutter, Johanna Rantala, Javier Benitez, Mark T. Rogers, kConFab Investigators, Lídia Feliubadaló, Inge Søkilde Pedersen, Annabeth Høgh Petersen, Jesús del Valle, Agostino Bucalo, Andrea Gehrig, Megan N. Frone, Judith Balmaña, Marc Tischkowitz, Thomas Hansen, Joan Brunet, Ines Zanna, Torben A Kruse, Carole Brewer, Bernard Peissel, Helen Gregory, Mary Porteous, Rosa B. Barkardottir, Andreas Rump, Ros Eeles, Anna Whaite, Saundra S. Buys, Fabienne Lesueur, Lisa Walker, Laura Ottini, Louise Izatt, Antonis C. Antoniou, Georgia Chenevix-Trench, Susanne E. Boonen, Hayley Cassingham, Jacques Simard, Christoph Engel, Patrick J. Morrison, Lise Lotte Christensen, Giulia Cini, Alvaro N.A. Monteiro, Kathleen Claes, Jacqueline Eason, Zoltan Matrai, Uffe Birk Jensen, Kristiina Aittomäki, Ramunas Janavicius, Olufunmilayo I. Olopade, Bjarni A. Agnarsson, Kara N. Maxwell, Julian Barwell, Bernd Auber, Julian Adlard, Esther M. John, Alex Teulé, Miguel de la Hoya, Darcy L. Thull, David E. Goldgar, Alessandra Viel, Dominique Stoppa-Lyonnet, Barbara Wappenschmidt, Phuong L. Mai, Taru A. Muranen, Eric Hahnen, Fergus J. Couch, Laura Matricardi, Domenico Palli, Yen Y. Tan, Julia Hentschel, Florentia Fostira, Ute Hamann, Trinidad Caldés, Rosemarie Davidson, Daniel R. Barnes, Åke Borg, Pedro Pérez-Segura, Aniko Bozsik, Yuan Chun Ding, Dieter Niederacher, Heli Nevanlinna, Helen Hanson, Norbert Arnold, Robin de Putter, Juliane Ramser, Alex Murray, Laura Cortesi, Christian F. Singer, Jacopo Azzollini, Zsofia K. Stadler, Oskar T. Johannsson, Andrew K. Godwin, D. Gareth Evans, Edith Olah, Michael T. Parsons, Medicum, Research Programs Unit, Kristiina Aittomäki / Principal Investigator, HUSLAB, Department of Medical and Clinical Genetics, University of Helsinki, Helsinki University Hospital Area, Research Program in Systems Oncology, HUS Gynecology and Obstetrics, Department of Obstetrics and Gynecology, Clinicum, Institut Català de la Salut, [Barnes DR, Leslie G, McGuffog L, Dennis J, Yang X] Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK. [Silvestri V] Department of Molecular Medicine, Sapienza University of Rome, Rome, Italy. [Balmaña J] Hereditary Cancer Genetics Group, Vall d’Hebron Institute of Oncology (VHIO), Barcelona, Spain. Servei d’Oncologia Mèdica, Vall d’Hebron Hospital Universitari, Barcelona, Spain. [Diez O] Hereditary Cancer Genetics Group, Vall d’Hebron Institute of Oncology (VHIO), Barcelona, Spain. Àrea de Genètica Clínica i Molecular, Vall d’Hebron Hospital Universitari, Barcelona, Spain, and Vall d'Hebron Barcelona Hospital Campus
- Subjects
Oncology ,Male ,Cancer Research ,Neoplasms::Neoplasms by Site::Breast Neoplasms [DISEASES] ,Genetic Phenomena::Genotype::Genetic Predisposition to Disease [PHENOMENA AND PROCESSES] ,Diàtesi ,polygenic ,male breast cancer ,PRS ,Medical Oncology ,Prostate cancer ,Breast cancer ,0302 clinical medicine ,Prostate ,Risk Factors ,Medicine and Health Sciences ,80 and over ,genetics ,skin and connective tissue diseases ,Aged, 80 and over ,neoplasias::neoplasias por localización::neoplasias de la mama [ENFERMEDADES] ,0303 health sciences ,education.field_of_study ,BRCA1 Protein ,Men ,Articles ,ASSOCIATION ,Single Nucleotide ,prostate cancer ,OVARIAN ,BRCA1 ,BRCA2 ,3. Good health ,Mutation carriers ,medicine.anatomical_structure ,Ovarian ,030220 oncology & carcinogenesis ,Male breast cancer ,Pròstata - Càncer - Aspectes genètics ,BRCA2 Protein ,Genetic Predisposition to Disease ,Heterozygote ,Humans ,Mutation ,Polymorphism, Single Nucleotide ,Risk Assessment ,Breast Neoplasms ,Prostatic Neoplasms ,AcademicSubjects/MED00010 ,medicine.medical_specialty ,Neoplasms::Neoplasms by Site::Urogenital Neoplasms::Genital Neoplasms, Male::Prostatic Neoplasms [DISEASES] ,Urology ,3122 Cancers ,Population ,Single-nucleotide polymorphism ,MUTATION CARRIERS ,Càncer de mama ,Association ,03 medical and health sciences ,Internal medicine ,medicine ,Polymorphism ,education ,fenómenos genéticos::genotipo::predisposición genética a la enfermedad [FENÓMENOS Y PROCESOS] ,030304 developmental biology ,Aged ,Càncer de pròstata ,business.industry ,Cancer ,Odds ratio ,medicine.disease ,neoplasias::neoplasias por localización::neoplasias urogenitales::neoplasias de los genitales masculinos::neoplasias de la próstata [ENFERMEDADES] ,Homes ,Mama - Càncer - Aspectes genètics ,business - Abstract
Breast and prostate cancer risks; Pathogenic variant Riscos de càncer de mama i pròstata; Variants patogèniques Riesgos de cáncer de mama y próstata; Variantes patogénicas Background Recent population-based female breast cancer and prostate cancer polygenic risk scores (PRS) have been developed. We assessed the associations of these PRS with breast and prostate cancer risks for male BRCA1 and BRCA2 pathogenic variant carriers. Methods 483 BRCA1 and 1318 BRCA2 European ancestry male carriers were available from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA). A 147-single nucleotide polymorphism (SNP) prostate cancer PRS (PRSPC) and a 313-SNP breast cancer PRS were evaluated. There were 3 versions of the breast cancer PRS, optimized to predict overall (PRSBC), estrogen receptor (ER)–negative (PRSER-), or ER-positive (PRSER+) breast cancer risk. Results PRSER+ yielded the strongest association with breast cancer risk. The odds ratios (ORs) per PRSER+ standard deviation estimates were 1.40 (95% confidence interval [CI] =1.07 to 1.83) for BRCA1 and 1.33 (95% CI = 1.16 to 1.52) for BRCA2 carriers. PRSPC was associated with prostate cancer risk for BRCA1 (OR = 1.73, 95% CI = 1.28 to 2.33) and BRCA2 (OR = 1.60, 95% CI = 1.34 to 1.91) carriers. The estimated breast cancer odds ratios were larger after adjusting for female relative breast cancer family history. By age 85 years, for BRCA2 carriers, the breast cancer risk varied from 7.7% to 18.4% and prostate cancer risk from 34.1% to 87.6% between the 5th and 95th percentiles of the PRS distributions. Conclusions Population-based prostate and female breast cancer PRS are associated with a wide range of absolute breast and prostate cancer risks for male BRCA1 and BRCA2 carriers. These findings warrant further investigation aimed at providing personalized cancer risks for male carriers and informing clinical management. The CIMBA data management and data analysis were supported by Cancer Research UK grants C12292/A20861 and PPRPGM-Nov20\100002. The research leading to these results has received funding from the Italian Association for Cancer Research (AIRC) under IG 2018 - ID. 21389 and the Italian League for the Fight Against Cancer (LILT) under IG 2019 projects, P.I. Ottini Laura and Italian Ministry of Education, Universities and Research-Dipartimenti di Eccellenza-L. 232/2016. CIMBA: GCT is a National Health and Medical Research Council (NHMRC) Research Fellow. iCOGS and OncoArray data: the European Community’s Seventh Framework Programme under grant agreement No. 223175 (HEALTH-F2-2009-223175) (COGS), Cancer Research UK (C1287/A10118, C1287/A 10710, C12292/A11174, C1281/A12014, C5047/A8384, C5047/A15007, C5047/A10692, C8197/A16565), the National Institutes of Health (NIH) (CA128978) and Post-Cancer GWAS initiative (1U19 CA148537, 1U19 CA148065 and 1U19 CA148112 - the GAME-ON initiative), the Department of Defence (W81XWH-10-1-0341), the Canadian Institutes of Health Research (CIHR) for the CIHR Team in Familial Risks of Breast Cancer (CRN-87521), and the Ministry of Economic Development, Innovation and Export Trade (PSR-SIIRI-701), Komen Foundation for the Cure, the Breast Cancer Research Foundation, and the Ovarian Cancer Research Fund. The Personalized Risk Stratification for Prevention and Early Detection of Breast Cancer (PERSPECTIVE) and PERSPECTIVE I&I projects were supported by the Government of Canada through Genome Canada and the Canadian Institutes of Health Research, the Ministry of Economy and Innovation through Genome Québec, and The Quebec Breast Cancer Foundation and the Ontario Research Fund. Breast Cancer Family Registry (BCFR): UM1 CA164920 from the National Cancer Institute (NCI). Baltic Familial Breast Ovarian Cancer Consortium (BFBOCC): Lithuania (BFBOCC-LT): Research Council of Lithuania grant SEN-18/2015. Beth Israel Deaconess Medical Center (BIDMC): Breast Cancer Research Foundation. BRCA-gene mutations and breast cancer in South African women (BMBSA): Cancer Association of South Africa (PI Elizabeth J. van Rensburg). Spanish National Cancer Centre (CNIO): Spanish Ministry of Health PI16/00440 supported by Fondo Europeo de Desarrollo Regional (FEDER) funds, the Spanish Ministry of Economy and Competitiveness (MINECO) SAF2014-57680-R and the Spanish Research Network on Rare diseases (CIBERER). City of Hope - Clinical Cancer Genomics Community Research Network (COH-CCGCRN): Research reported in this publication was supported by the NCI of the NIH under grant No. R25CA112486, and RC4CA153828 (PI: J. Weitzel) from the NCI and the Office of the Director, NIH. CONsorzio Studi ITaliani sui Tumori Ereditari Alla Mammella (CONSIT TEAM): Associazione Italiana Ricerca sul Cancro (AIRC; IG2014 No.15547) to P. Radice. Funds from Italian citizens who allocated the 5x1000 share of their tax payment in support of the Fondazione IRCCS Istituto Nazionale Tumori, according to Italian laws (INT-Institutional strategic projects ‘5x1000’) to S. Manoukian. Associazione CAOS Varese to M.G. Tibiletti. AIRC (IG2015 No.16732) to P. Peterlongo. National Centre for Scientific Research Demokritos (DEMOKRITOS): European Union (European Social Fund—ESF) and Greek national funds through the Operational Program “Education and Lifelong Learning” of the National Strategic Reference Framework (NSRF) - Research Funding Program of the General Secretariat for Research & Technology: SYN11_10_19 NBCA. Investing in knowledge society through the European Social Fund. German Cancer Research Center (DFKZ): German Cancer Research Center. Epidemiological Study of Familial Breast Cancer (EMBRACE): Cancer Research UK Grants C1287/A10118 and C1287/A11990. D. Gareth Evans and Fiona Lalloo are supported by an National Institute for Health Research (NIHR) grant to the Biomedical Research Centre, Manchester. The Investigators at The Institute of Cancer Research and The Royal Marsden National Health Service (NHS) Foundation Trust are supported by an NIHR grant to the Biomedical Research Centre at The Institute of Cancer Research and The Royal Marsden NHS Foundation Trust. Ros Eeles and Elizabeth Bancroft are supported by Cancer Research UK Grant C5047/A8385. Ros Eeles is also supported by NIHR support to the Biomedical Research Centre at The Institute of Cancer Research and The Royal Marsden NHS Foundation Trust. Fox Chase Cancer Center (FCCC): The University of Kansas Cancer Center (P30 CA168524) and the Kansas Bioscience Authority Eminent Scholar Program. AKG was in part funded by the NCI (R01 CA214545 and R01 CA140323), The Kansas Institute for Precision Medicine (P20 GM130423), and the Kansas Bioscience Authority Eminent Scholar Program. A.K.G. is the Chancellors Distinguished Chair in Biomedical Sciences Professor. Fundación Pública Galega de Medicina Xenómica (FPGMX): FISPI05/2275 and Mutua Madrileña Foundation (FMMA). German Familial Breast Group (GC-HBOC): German Cancer Aid (grant No. 110837, Rita K. Schmutzler) and the European Regional Development Fund and Free State of Saxony, Germany (LIFE—Leipzig Research Centre for Civilization Diseases, project No. 713-241202, No. 713-241202, No. 14505/2470, and No. 14575/2470). Genetic Modifiers of cancer risk in BRCA1/2 mutation carriers (GEMO): Ligue Nationale Contre le Cancer; the Association “Le cancer du sein, parlons-en!” Award, the Canadian Institutes of Health Research for the “CIHR Team in Familial Risks of Breast Cancer” program and the French National Institute of Cancer (INCa grants 2013-1-BCB-01-ICH-1 and SHS-E-SP 18-015). Georgetown University (GEORGETOWN): the Non-Therapeutic Subject Registry Shared Resource at Georgetown University (NIH/NCI grant P30-CA051008), the Fisher Center for Hereditary Cancer and Clinical Genomics Research, and Swing Fore the Cure. Ghent University Hospital (G-FAST): Bruce Poppe is a senior clinical investigator of FWO. Mattias Van Heetvelde obtained funding from IWT. Hospital Clinico San Carlos (HCSC): Spanish Ministry of Health PI15/00059, PI16/01292, and CB-161200301 CIBERONC from ISCIII (Spain), partially supported by European Regional Development FEDER funds. Helsinki Breast Cancer Study (HEBCS): Helsinki University Hospital Research Fund, the Finnish Cancer Society and the Sigrid Juselius Foundation. Hereditary Breast and Ovarian cancer study the Netherlands (HEBON): the Dutch Cancer Society grants NKI1998-1854, NKI2004-3088, NKI2007-3756, the Netherlands Organization of Scientific Research grant NWO 91109024, the Pink Ribbon grants 110005 and 2014-187.WO76, the Biobanking and Biomolecular Resources Research Infrastructure (BBMRI) grant NWO 184.021.007/CP46 and the Transcan grant JTC 2012 Cancer 12-054. HEBON thanks the registration teams of Dutch Cancer Registry (IKNL; S. Siesling, J. Verloop) and the Dutch Pathology database (PALGA; L. Overbeek) for part of the data collection. Study of Genetic Mutations in Breast and Ovarian Cancer patients in Hong Kong and Asia (HRBCP): Hong Kong Sanatorium and Hospital, Dr Ellen Li Charitable Foundation, The Kerry Group Kuok Foundation, National Institute of Health1R 03CA130065, and North California Cancer Center. Molecular Genetic Studies of Breast- and Ovarian Cancer in Hungary (HUNBOCS): Hungarian Research Grants KTIA-OTKA CK-80745 and NKFI_OTKA K-112228. Institut Català d’Oncologia (ICO): The authors would like to particularly acknowledge the support of the Asociación Española Contra el Cáncer (AECC), the Instituto de Salud Carlos III (organismo adscrito al Ministerio de Economía y Competitividad) and “FEDER, una manera de hacer Europa” (PI10/01422, PI13/00285, PIE13/00022, PI15/00854, PI16/00563 and CIBERONC) and the Institut Català de la Salut and Autonomous Government of Catalonia (2009SGR290, 2014SGR338 and PERIS Project MedPerCan). International Hereditary Cancer Centre (IHCC): PBZ_KBN_122/P05/2004. Iceland Landspitali – University Hospital (ILUH): Icelandic Association “Walking for Breast Cancer Research” and by the Landspitali University Hospital Research Fund. INterdisciplinary HEalth Research Internal Team BReast CAncer susceptibility (INHERIT): Canadian Institutes of Health Research for the “CIHR Team in Familial Risks of Breast Cancer” program—grant No. CRN-87521 and the Ministry of Economic Development, Innovation and Export Trade—grant No. PSR-SIIRI-701. Istituto Oncologico Veneto (IOVHBOCS): Ministero della Salute and “5x1000” Istituto Oncologico Veneto grant. Portuguese Oncology Institute-Porto Breast Cancer Study (IPOBCS): Liga Portuguesa Contra o Cancro. Kathleen Cuningham Consortium for Research into Familial Breast Cancer (kConFab): The National Breast Cancer Foundation, and previously by the National Health and Medical Research Council (NHMRC), the Queensland Cancer Fund, the Cancer Councils of New South Wales, Victoria, Tasmania and South Australia, and the Cancer Foundation of Western Australia. Korean Hereditary Breast Cancer Study (KOHBRA): the Korea Health Technology R&D Project through the Korea Health Industry Development Institute (KHIDI), and the National R&D Program for Cancer Control, Ministry of Health & Welfare, Republic of Korea (HI16C1127; 1020350; 1420190). Mayo Clinic (MAYO): NIH grants CA116167, CA192393 and CA176785, an NCI Specialized Program of Research Excellence (SPORE) in Breast Cancer (CA116201), and a grant from the Breast Cancer Research Foundation. McGill University (MCGILL): Jewish General Hospital Weekend to End Breast Cancer, Quebec Ministry of Economic Development, Innovation and Export Trade. Marc Tischkowitz is supported by the funded by the European Union Seventh Framework Program (2007Y2013)/European Research Council (Grant No. 310018). Modifier Study of Quantitative Effects on Disease (MODSQUAD): MH CZ—DRO (MMCI, 00209805), MEYS—NPS I—LO1413 to LF, and by Charles University in Prague project UNCE204024 (MZ). Memorial Sloane Kettering Cancer Center (MSKCC): the Breast Cancer Research Foundation, the Robert and Kate Niehaus Clinical Cancer Genetics Initiative, the Andrew Sabin Research Fund and a Cancer Center Support Grant/Core Grant (P30 CA008748). Women’s College Research Institute Hereditary Breast and Ovarian Cancer Study (NAROD): 1R01 CA149429-01. National Cancer Institute (NCI): the Intramural Research Program of the US NCI, NIH, and by support services contracts NO2-CP-11019-50, N02-CP-21013-63 and N02-CP-65504 with Westat, Inc, Rockville, MD. National Israeli Cancer Control Center (NICCC): Clalit Health Services in Israel, the Israel Cancer Association and the Breast Cancer Research Foundation (BCRF), NY. N.N. Petrov Institute of Oncology (NNPIO): the Russian Foundation for Basic Research (grants 17-54-12007, 17-00-00171 and 18-515-12007). NRG Oncology: U10 CA180868, NRG SDMC grant U10 CA180822, NRG Administrative Office and the NRG Tissue Bank (CA 27469), the NRG Statistical and Data Center (CA 37517) and the Intramural Research Program, NCI. The Ohio State University Comprehensive Cancer Center (OSUCCG): Ohio State University Comprehensive Cancer Center. Università di Pisa (PBCS): AIRC [IG 2013 N.14477] and Tuscany Institute for Tumors (ITT) grant 2014-2015-2016. South East Asian Breast Cancer Association Study (SEABASS): Ministry of Science, Technology and Innovation, Ministry of Higher Education (UM.C/HlR/MOHE/06) and Cancer Research Initiatives Foundation. Sheba Medical Centre (SMC): the Israeli Cancer Association. Swedish Breast Cancer Study (SWE-BRCA): the Swedish Cancer Society. University of Chicago (UCHICAGO): NCI Specialized Program of Research Excellence (SPORE) in Breast Cancer (CA125183), R01 CA142996, 1U01CA161032 and by the Ralph and Marion Falk Medical Research Trust, the Entertainment Industry Fund National Women’s Cancer Research Alliance and the Breast Cancer research Foundation. OIO is an American Cancer Society (ACS) Clinical Research Professor. University of California Los Angeles (UCLA): Jonsson Comprehensive Cancer Center Foundation; Breast Cancer Research Foundation. University of California San Francisco (UCSF): UCSF Cancer Risk Program and Helen Diller Family Comprehensive Cancer Center. UK Familial Ovarian Cancer Registry (UKFOCR): Cancer Research UK. University of Pennsylvania (UPENN): NIH (R01-CA102776 and R01-CA083855); Breast Cancer Research Foundation; Susan G. Komen Foundation for the cure, Basser Research Center for BRCA. Cancer Family Registry University of Pittsburg (UPITT/MWH): Hackers for Hope Pittsburgh. Victorian Familial Cancer Trials Group (VFCTG): Victorian Cancer Agency, Cancer Australia, National Breast Cancer Foundation. Women’s Cancer Program at Cedars-Sinai Medical Center (WCP): Dr Karlan is funded by the ACS Early Detection Professorship (SIOP-06-258-01-COUN) and the National Center for Advancing Translational Sciences (NCATS), Grant UL1TR000124. TN-D is a recipient of a Career Development Fellow from the National Breast Cancer Foundation (Australia, ECF-17-001).
- Published
- 2022
- Full Text
- View/download PDF
44. sj-docx-1-ras-10.1177_00208523221126860 - Supplemental material for Corruption risk analysis in local public procurement: a look at the Àrea Metropolitana de Barcelona
- Author
-
Díaz, Javier Miranzo, Martinez, Agustí Cerrillo i, Caldés, Ramon Galindo, and Carranza, Judith Castro
- Subjects
160509 Public Administration ,FOS: Political science ,160607 International Relations - Abstract
Supplemental material, sj-docx-1-ras-10.1177_00208523221126860 for Corruption risk analysis in local public procurement: a look at the Àrea Metropolitana de Barcelona by Javier Miranzo Díaz, Agustí Cerrillo i Martinez, Ramon Galindo Caldés and Judith Castro Carranza in International Review of Administrative Sciences
- Published
- 2022
- Full Text
- View/download PDF
45. Communicating with Patients about COVID-19 Vaccination: A Qualitative Study on Vaccinators in Tuscany Region, Italy
- Author
-
Giorgia Alderotti, Martina Felicia Corvo, Primo Buscemi, Lorenzo Stacchini, Duccio Giorgetti, Chiara Lorini, Guglielmo Bonaccorsi, Maria José Caldés Pinilla, and Vieri Lastrucci
- Subjects
Pharmacology ,Immunology ,COVID-19 ,vaccine confidence ,communication principles ,Infectious Diseases ,vaccinators ,vaccine ,Drug Discovery ,health communication ,communication strategies ,vaccine hesitancy ,Pharmacology (medical) ,vaccination campaign - Abstract
The rapid development of the vaccine and the infodemia have challenged communication about COVID-19 vaccines. This study aims to characterize—through the experience of vaccinators—the challenges faced during COVID-19 vaccination consultations and the communication strategies adopted. A qualitative study was conducted on COVID-19 vaccinators in Tuscany, Italy. Face-to-face interviews were conducted and examined by thematic analysis. In total, 30 vaccinators were interviewed. Four main themes emerged. The first highlighted distinct profiles of users’ attitudes toward COVID-19 vaccination. Barriers and promoters of vaccine uptake emerged in the second theme: concerns over the vaccine, excessive exposure to information, and a lack of clear guidance from institutions were the main factors behind hesitancy. The third theme highlighted users’ information-seeking behaviors; vaccinators observed that users ideologically opposed to the vaccine (IOV) unconsciously seek information that confirms their theories. The last theme comprised communication strategies for dealing with hesitancy. Empathy, first-hand examples, transparency, and tailored communication style appear to be effective in building vaccine trust. Lastly, the impossibility of developing a decision-making partnership with IOVs was noticed. These findings may help to better characterize public attitudes toward COVID-19 vaccination and highlight key communication principles and strategies to foster vaccine confidence.
- Published
- 2023
- Full Text
- View/download PDF
46. Corruption risk analysis in local public procurement: a look at the Àrea Metropolitana de Barcelona
- Author
-
Javier Miranzo Díaz, Agustí Cerrillo i Martinez, Ramon Galindo Caldés, and Judith Castro Carranza
- Subjects
Public Administration ,Sociology and Political Science - Abstract
Over the past years, the anti-corruption strategy in public administrations has been shifting from a formal way of control towards a risk management and assessment one. However, it is not clear whether these legal reforms at EU and at national level are reaching local institutions. The study evaluates the degree of compliance of the Greater Metropolitan Area of Barcelona by analysing a set of indicators divided into five main areas: codes of ethics, oversight bodies, transparency, conflicts of interests, and whistleblowing channels and protection. The results show that, even if there are also positive outcomes, the process of transforming the public administration and its contracting bodies towards a culture of integrity or risk management is still far from complete at local levels, and there are still institutional and normative shortcomings in terms of anti-corruption strategy and planning that should be promptly addressed. Points for practitioners This article explores the impact of the current anti-corruption legislation on local governments and public bodies. It analyses the state of development of four key public procurement areas of action within the Metropolitan Area of Barcelona, gathering 170 entities of different legal nature and size. The results show that the impact of European and national legislations seems to be still weak in local administrative structures, although the degree of development varies significantly among different types of entities.
- Published
- 2022
- Full Text
- View/download PDF
47. S103: EFFICACY AND SAFETY OF ARI0002H, AN ACADEMIC BCMA-DIRECTED CAR-T CELL THERAPY WITH FRACTIONATED INITIAL THERAPY AND BOOSTER DOSE IN PATIENTS WITH RELAPSED/REFRACTORY MULTIPLE MYELOMA
- Author
-
C. Fernandez De Larrea, V. González-Calle, A. Oliver-Caldés, V. Cabañas, P. Rodríguez-Otero, M. Español-Rego, J. L. Reguera, L. López-Corral, B. Martin-Antonio, B. Paiva, S. Inogés, L. Rosiñol, A. López-Díaz de Cerio, N. Tovar, M. López-Parra, L. G. Rodríguez-Lobato, A. Sánchez-Salinas, S. Varea, V. Ortiz-Maldonado, J. A. Pérez Simón, F. Prósper, M. Juan, J. M. Moraleda, M. V. Mateos, M. Pascal, and A. Urbano-Ispizua
- Subjects
Hematology - Published
- 2022
- Full Text
- View/download PDF
48. P862: SERUM MASS SPECTROMETRY TO ANALYZE DISEASE RESPONSE IN PATIENTS WITH RELAPSED/REFRACTORY MULTIPLE MYELOMA RECEIVING ARI0002H, AN ACADEMIC BCMA-DIRECTED CAR T-CELL THERAPY
- Author
-
I. Ortiz De Landazuri, A. Oliver-Caldés, M. Español-Rego, M. T. Contreras, A. Zabaleta, C. Agulló, N. Puig, V. Cabañas, V. González-Calle, R. Jiménez, S. Inogés, P. Rodríguez-Otero, B. Martin-Antonio, J. L. Reguera, A. López-Diaz de Cerio, D. Benítez-Ribas, L. G. Rodríguez-Lobato, E. A. González, L. Rosiñol, J. Yagüe, J. M. Moraleda, Á. Urbano-Ispizua, M. V. Mateos, M. Juan, B. Paiva, M. Pascal, and C. Fernández de Larrea
- Subjects
Hematology - Published
- 2022
- Full Text
- View/download PDF
49. Genome-wide association study identifies 32 novel breast cancer susceptibility loci from overall and subtype-specific analyses
- Author
-
Zhang, Haoyu, Ahearn, Thomas U, Lecarpentier, Julie, Barnes, Daniel, Beesley, Jonathan, Qi, Guanghao, Jiang, Xia, O'Mara, Tracy A, Zhao, Ni, Bolla, Manjeet K, Dunning, Alison M, Dennis, Joe, Wang, Qin, Ful, Zumuruda Abu, Aittomäki, Kristiina, Andrulis, Irene L, Anton-Culver, Hoda, Arndt, Volker, Aronson, Kristan J, Arun, Banu K, Auer, Paul L, Azzollini, Jacopo, Barrowdale, Daniel, Becher, Heiko, Beckmann, Matthias W, Behrens, Sabine, Benitez, Javier, Bermisheva, Marina, Bialkowska, Katarzyna, Blanco, Ana, Blomqvist, Carl, Bogdanova, Natalia V, Bojesen, Stig E, Bonanni, Bernardo, Bondavalli, Davide, Borg, Ake, Brauch, Hiltrud, Brenner, Hermann, Briceno, Ignacio, Broeks, Annegien, Brucker, Sara Y, Brüning, Thomas, Burwinkel, Barbara, Buys, Saundra S, Byers, Helen, Caldés, Trinidad, Caligo, Maria A, Calvello, Mariarosaria, Campa, Daniele, Castelao, Jose E, Chang-Claude, Jenny, Chanock, Stephen J, Christiaens, Melissa, Christiansen, Hans, Chung, Wendy K, Claes, Kathleen BM, Clarke, Christine L, Cornelissen, Sten, Couch, Fergus J, Cox, Angela, Cross, Simon S, Czene, Kamila, Daly, Mary B, Devilee, Peter, Diez, Orland, Domchek, Susan M, Dörk, Thilo, Dwek, Miriam, Eccles, Diana M, Ekici, Arif B, Evans, D Gareth, Fasching, Peter A, Figueroa, Jonine, Foretova, Lenka, Fostira, Florentia, Friedman, Eitan, Frost, Debra, Gago-Dominguez, Manuela, Gapstur, Susan M, Garber, Judy, García-Sáenz, José A, Gaudet, Mia M, Gayther, Simon A, Giles, Graham G, Godwin, Andrew K, Goldberg, Mark S, Goldgar, David E, González-Neira, Anna, Greene, Mark H, Gronwald, Jacek, Guénel, Pascal, Häberle, Lothar, Hahnen, Eric, Haiman, Christopher A, Hake, Christopher R, Hall, Per, Hamann, Ute, Harkness, Elaine F, Heemskerk-Gerritsen, Bernadette AM, Hillemanns, Peter, Hogervorst, Frans BL, Holleczek, Bernd, Hollestelle, Antoinette, Hooning, Maartje J, Hoover, Robert N, Hopper, John L, Howell, Anthony, Huebner, Hanna, Hulick, Peter J, Imyanitov, Evgeny N, kConFab Investigators, ABCTB Investigators, Isaacs, Claudine, Izatt, Louise, Jager, Agnes, Jakimovska, Milena, Jakubowska, Anna, James, Paul, Janavicius, Ramunas, Janni, Wolfgang, John, Esther M, Jones, Michael E, Jung, Audrey, Kaaks, Rudolf, Kapoor, Pooja Middha, Karlan, Beth Y, Keeman, Renske, Khan, Sofia, Khusnutdinova, Elza, Kitahara, Cari M, Ko, Yon-Dschun, Konstantopoulou, Irene, Koppert, Linetta B, Koutros, Stella, Kristensen, Vessela N, Laenkholm, Anne-Vibeke, Lambrechts, Diether, Larsson, Susanna C, Laurent-Puig, Pierre, Lazaro, Conxi, Lazarova, Emilija, Lejbkowicz, Flavio, Leslie, Goska, Lesueur, Fabienne, Lindblom, Annika, Lissowska, Jolanta, Lo, Wing-Yee, Loud, Jennifer T, Lubinski, Jan, Lukomska, Alicja, MacInnis, Robert J, Mannermaa, Arto, Manoochehri, Mehdi, Manoukian, Siranoush, Margolin, Sara, Martinez, Maria Elena, Matricardi, Laura, McGuffog, Lesley, McLean, Catriona, Mebirouk, Noura, Meindl, Alfons, Menon, Usha, Miller, Austin, Mingazheva, Elvira, Montagna, Marco, Mulligan, Anna Marie, Mulot, Claire, Muranen, Taru A, Nathanson, Katherine L, Neuhausen, Susan L, Nevanlinna, Heli, Neven, Patrick, Newman, William G, Nielsen, Finn C, Nikitina-Zake, Liene, Nodora, Jesse, Offit, Kenneth, Olah, Edith, Olopade, Olufunmilayo I, Olsson, Håkan, Orr, Nick, Papi, Laura, Papp, Janos, Park-Simon, Tjoung-Won, Parsons, Michael T, Peissel, Bernard, Peixoto, Ana, Peshkin, Beth, Peterlongo, Paolo, Peto, Julian, Phillips, Kelly-Anne, Piedmonte, Marion, Plaseska-Karanfilska, Dijana, Prajzendanc, Karolina, Prentice, Ross, Prokofyeva, Darya, Rack, Brigitte, Radice, Paolo, Ramus, Susan J, Rantala, Johanna, Rashid, Muhammad U, Rennert, Gad, Rennert, Hedy S, Risch, Harvey A, Romero, Atocha, Rookus, Matti A, Rübner, Matthias, Rüdiger, Thomas, Saloustros, Emmanouil, Sampson, Sarah, Sandler, Dale P, Sawyer, Elinor J, Scheuner, Maren T, Schmutzler, Rita K, Schneeweiss, Andreas, Schoemaker, Minouk J, Schöttker, Ben, Schürmann, Peter, Senter, Leigha, Sharma, Priyanka, Sherman, Mark E, Shu, Xiao-Ou, Singer, Christian F, Smichkoska, Snezhana, Soucy, Penny, Southey, Melissa C, Spinelli, John J, Stone, Jennifer, Stoppa-Lyonnet, Dominique, EMBRACE Study, GEMO Study Collaborators, Swerdlow, Anthony J, Szabo, Csilla I, Tamimi, Rulla M, Tapper, William J, Taylor, Jack A, Teixeira, Manuel R, Terry, MaryBeth, Thomassen, Mads, Thull, Darcy L, Tischkowitz, Marc, Toland, Amanda E, Tollenaar, Rob AEM, Tomlinson, Ian, Torres, Diana, Troester, Melissa A, Truong, Thérèse, Tung, Nadine, Untch, Michael, Vachon, Celine M, van den Ouweland, Ans MW, van der Kolk, Lizet E, van Veen, Elke M, vanRensburg, Elizabeth J, Vega, Ana, Wappenschmidt, Barbara, Weinberg, Clarice R, Weitzel, Jeffrey N, Wildiers, Hans, Winqvist, Robert, Wolk, Alicja, Yang, Xiaohong R, Yannoukakos, Drakoulis, Zheng, Wei, Zorn, Kristin K, Milne, Roger L, Kraft, Peter, Simard, Jacques, Pharoah, Paul DP, Michailidou, Kyriaki, Antoniou, Antonis C, Schmidt, Marjanka K, Chenevix-Trench, Georgia, Easton, Douglas F, Chatterjee, Nilanjan, García-Closas, Montserrat, Barnes, Daniel [0000-0002-3781-7570], O'Mara, Tracy A [0000-0002-5436-3232], Dunning, Alison M [0000-0001-6651-7166], Dennis, Joe [0000-0003-4591-1214], Andrulis, Irene L [0000-0002-4226-6435], Arndt, Volker [0000-0001-9320-8684], Azzollini, Jacopo [0000-0002-9364-9778], Bojesen, Stig E [0000-0002-4061-4133], Bonanni, Bernardo [0000-0003-3589-2128], Brauch, Hiltrud [0000-0001-7531-2736], Caldés, Trinidad [0000-0002-1038-5392], Calvello, Mariarosaria [0000-0003-2113-8503], Chanock, Stephen J [0000-0002-2324-3393], Claes, Kathleen BM [0000-0003-0841-7372], Devilee, Peter [0000-0002-8023-2009], Dörk, Thilo [0000-0002-9458-0282], Dwek, Miriam [0000-0001-7184-2932], Ekici, Arif B [0000-0001-6099-7066], Fasching, Peter A [0000-0003-4885-8471], García-Sáenz, José A [0000-0001-6880-0301], Gayther, Simon A [0000-0001-7937-5443], Giles, Graham G [0000-0003-4946-9099], Greene, Mark H [0000-0003-1852-9239], Guénel, Pascal [0000-0002-8359-518X], Harkness, Elaine F [0000-0001-6625-7739], Heemskerk-Gerritsen, Bernadette AM [0000-0002-9724-6693], Hollestelle, Antoinette [0000-0003-1166-1966], Huebner, Hanna [0000-0001-6889-1493], Hulick, Peter J [0000-0001-8397-4078], Jakimovska, Milena [0000-0002-1506-0669], Jakubowska, Anna [0000-0002-5650-0501], James, Paul [0000-0002-4361-4657], Jones, Michael E [0000-0001-7479-3451], Kapoor, Pooja Middha [0000-0001-5503-8215], Keeman, Renske [0000-0002-5452-9933], Konstantopoulou, Irene [0000-0002-0470-0309], Larsson, Susanna C [0000-0003-0118-0341], Laurent-Puig, Pierre [0000-0001-8475-5459], Leslie, Goska [0000-0001-5756-6222], Lesueur, Fabienne [0000-0001-7404-4549], Lissowska, Jolanta [0000-0003-2695-5799], Matricardi, Laura [0000-0002-0241-1810], McLean, Catriona [0000-0002-0302-5727], Menon, Usha [0000-0003-3708-1732], Miller, Austin [0000-0001-9739-8462], Muranen, Taru A [0000-0002-5895-1808], Nathanson, Katherine L [0000-0002-6740-0901], Nevanlinna, Heli [0000-0002-0916-2976], Newman, William G [0000-0002-6382-4678], Olopade, Olufunmilayo I [0000-0002-9936-1599], Orr, Nick [0000-0003-2866-942X], Parsons, Michael T [0000-0003-3242-8477], Peshkin, Beth [0000-0002-2997-4701], Peterlongo, Paolo [0000-0001-6951-6855], Peto, Julian [0000-0002-1685-8912], Plaseska-Karanfilska, Dijana [0000-0001-8877-2416], Radice, Paolo [0000-0001-6298-4111], Rennert, Gad [0000-0002-8512-068X], Romero, Atocha [0000-0002-1634-7397], Saloustros, Emmanouil [0000-0002-0485-0120], Stone, Jennifer [0000-0001-5077-0124], Teixeira, Manuel R [0000-0002-4896-5982], Toland, Amanda E [0000-0002-0271-1792], Tomlinson, Ian [0000-0003-3037-1470], van Veen, Elke M [0000-0001-8618-2332], vanRensburg, Elizabeth J [0000-0003-2077-230X], Weitzel, Jeffrey N [0000-0001-6714-092X], Winqvist, Robert [0000-0003-0932-9104], Wolk, Alicja [0000-0001-7387-6845], Yannoukakos, Drakoulis [0000-0001-7509-3510], Zheng, Wei [0000-0003-1226-070X], Milne, Roger L [0000-0001-5764-7268], Kraft, Peter [0000-0002-4472-8103], Simard, Jacques [0000-0001-6906-3390], Pharoah, Paul DP [0000-0001-8494-732X], Michailidou, Kyriaki [0000-0001-7065-1237], Schmidt, Marjanka K [0000-0002-2228-429X], Easton, Douglas F [0000-0003-2444-3247], Chatterjee, Nilanjan [0000-0002-9060-008X], García-Closas, Montserrat [0000-0003-1033-2650], and Apollo - University of Cambridge Repository
- Subjects
BRCA1 Protein ,Case-Control Studies ,Mutation ,Humans ,Breast Neoplasms ,Female ,Genetic Predisposition to Disease ,Triple Negative Breast Neoplasms ,Linkage Disequilibrium ,Genome-Wide Association Study - Abstract
Breast cancer susceptibility variants frequently show heterogeneity in associations by tumor subtype1-3. To identify novel loci, we performed a genome-wide association study including 133,384 breast cancer cases and 113,789 controls, plus 18,908 BRCA1 mutation carriers (9,414 with breast cancer) of European ancestry, using both standard and novel methodologies that account for underlying tumor heterogeneity by estrogen receptor, progesterone receptor and human epidermal growth factor receptor 2 status and tumor grade. We identified 32 novel susceptibility loci (P
- Published
- 2020
50. Amb les mans: espai dedicat a l'artesania mallorquina
- Author
-
Caldés Ortín, Clara, Noguera Nieto, Ana Maria, Ribas Seix, Carme, Ros Ballesteros, Jordi, Mir Teixidor, Enrique, Mendoza Ramírez, Héctor, and Zubelzu Viarje, Ana
- Subjects
Public spaces -- Spain -- Palma de Mallorca ,Arquitectura::Tipologies d'edificis [Àrees temàtiques de la UPC] ,Escoles bressol -- Illes Balears -- Palma ,Equipaments culturals -- Illes Balears -- Palma ,Urbanisme::Arquitectura del paisatge [Àrees temàtiques de la UPC] ,Visitors’ centers -- Spain -- Palma de Mallorca ,Arts facilities -- Spain -- Palma de Mallorca ,Centres d'interpretació -- Illes Balears -- Palma - Abstract
En el límite de la ciudad con el mar, sobre el talud del Jonquet, en Palma, el espacio para el desarrollo de la artesanía mallorquina conforma un nuevo paisaje, vinculado al recorrido marítimo de la Catedral con los elementos patrimoniales del conjunto, destinado a acoger y reunir las obras de los diferentes artistas locales, para celebrar lo que se hace con las manos y apoyar a los que mantienen viva la cultura y las tradiciones de la Isla.
- Published
- 2021
Catalog
Books, media, physical & digital resources
Discovery Service for Jio Institute Digital Library
For full access to our library's resources, please sign in.