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15P ClinBioNGS: An integrated clinical bioinformatics pipeline for the analysis of somatic NGS cancer panels

ESMO Open 2023年第1期8卷 101661-101661页

作者： Sole, X. Marín, R. Badosa, A. Alay Hijazo-Pechero, S. Aguado, V. Moreno Nadal, E. Molecular Biology CORE Hospital Clinic of Barcelona - IDIBAPS Barcelona Spain IDIBELL - Bellvitge Biomedical Research Institute Hospitalet de Llobregat Spain Institut Catala d'Oncologia - Hospital Duran i Reynals (ICO L'Hospitalet) Barcelona Spain Oncology Data Analytics Program ICO - Institut Català d'Oncologia l'Hospitalet (Hospital Duran i Reynals) Hospitalet de Llobregat Spain Medical Oncology Department ICO - Institut Català d'Oncologia l'Hospitalet (Hospital Duran i Reynals) L'Hospitalet de Llobregat Spain

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579P Intratumoral fusobacterium as prognostic factor in early stage colorectal cancer: Results of the FUSOMAP study

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Annals of oncology 2024年 35卷 S469-S470页

作者： P.G. Nuciforo F. Moratalla Navarro I. Baraibar Argota L. Alonso G. serna J. Vidal Barrull L. Aguilera Castro N. Mulet Margalef A. Fernandez Montes M. Cuatrecasas I. Gardeazabal Gonzalez E. Gonzalez P. García Alfonso S. Rosello Keranen R. Comas N. Bayo Puxan R. FASANI M. Obon M.E. Elez Fernandez V. Moreno Aguado Molecular Oncology Dept. Vall d'Hebron Institute of Oncology - Cellex Center Barcelona Spain Programa d’Analítica de Dades Oncològiques (PADO) ICO - Institut Català d'Oncologia l'Hospitalet (Hospital Duran i Reynals) L'Hospitalet De Llobregat Spain Oncology Department Vall d'Hebron University Hospital Barcelona Spain Medical Oncology Department Hospital del Mar Research Institute Universitat Pompeu Fabra CIBERONC Barcelona Spain Gastroenterology Vall d'Hebron University Hospital Barcelona Spain Medical Oncology ICO - Institut Català d'Oncologia Badalona (Hospital Universitario Germans Trias i Pujol) Badalona Spain Dept. Medical Oncology Complexo Hospitalario Universitario de Ourense Ourense Spain Pathology Hospital Clinic y Provincial de Barcelona Barcelona Spain Medical Oncology Department HUMV - Hospital Universitario Marques de Valdecilla Santander Spain Medical Oncology Hospital Universitario Virgen de las Nieves Granada Spain Medical Oncology Hospital Universitario Gregorio Marañón Universidad Complutense Madrid Spain Medical Oncology Hospital Clinico Universitario de Valencia Valencia Valencia Spain Oncology Data Science Group (ODysSey) VHIO - Vall d'Hebron Institute of Oncology Barcelona Spain Project Management VHIO - Vall d'Hebron Institute of Oncology Barcelona Spain Oncology Data Analytics Program ICO - Institut Català d'Oncologia l'Hospitalet (Hospital Duran i Reynals) Hospitalet De Llobregat Spain Medical Oncology Vall d’Hebron University Hospital and Vall d’Hebron Institute of Oncology UVic-UCC Barcelona Spain

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Nat Genet:单细胞分析解开结直肠癌细胞的神秘面纱

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现代生物医学进展 2017年第15期17卷 I0003-I0003页

作者： Huipeng Li, Elise T Courtois, Debarka Sengupta, Yuliana Tan Shyam Prabhakar Elise T Courtois, Yuliana Tan Paul Robson Debarka Sengupta Kok Hao Chen, Jolene Jie Lin Goh Paul Jongjoon Choi Say Li Kong, Axel M Hillmer Iain Beehuat Tan Clarinda Chua Iain Beehuat Tan Lim Kiat Hon Wah Siew Tan Mark Wong Lawrence J K Wee Iain Beehuat Tan Paul Robson Paul Robson Paul Robson Computational and Systems Biology Genome Institute of Singapore Singapore Developmental Cellomics Laboratory Genome Institute of Singapore Singapore Department of Computer Science and Engineering and Center for Computational Biology Indraprastha Institute of Information Technology Delhi India Synthetic Biology Genome Institute of Singapore Singapore Cancer Therapeutics and Stratified Oncology Genome Institute of Singapore Singapore Department of Medical Oncology National Cancer Centre Singapore Singapore Department of Pathology Singapore General Hospital Singapore Department of Colorectal Surgery Singapore General Hospital Singapore Data Analytics Department Institute for Infocomm Research Singapore Program in Cancer and Stem Cell Biology Duke-NUS Medical School Singapore The Jackson Laboratory for Genomic Medicine Farmington Connecticut USA Department of Genetics and Genome Sciences Institute for Systems Genomics University of Connecticut Farmington Connecticut USA Department of Biological Sciences National University of Singapore Singapore.

结合单细胞基因组学和计算机技术，一个研究团队（包括来自杰克逊实验室（JAx）单细胞生物学主任Paul Robson博士在内）鉴定出了11种结直肠癌肿瘤的癌细胞组成及邻近的非癌细胞。这对于更好的肿瘤靶向诊断和治疗很重要。”使用单细胞测... 详细信息

结合单细胞基因组学和计算机技术，一个研究团队（包括来自杰克逊实验室（JAx）单细胞生物学主任Paul Robson博士在内）鉴定出了11种结直肠癌肿瘤的癌细胞组成及邻近的非癌细胞。这对于更好的肿瘤靶向诊断和治疗很重要。”使用单细胞测序。”JAX科学家、这篇发表在Nature Genetics上的文章共同第一作者Elise Courtois说道。”我们可以根据肿瘤中的细胞组成将结直肠癌进一步分类。因为每种亚型的肿瘤病人生存率存在差别，我们的方法将为肿瘤医生提供更多的关于肿瘤预后和治疗的信息。”

关键词：单细胞分析结直肠癌癌细胞 Nat 细胞组成肿瘤病计算机技术细胞生物学

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1897P Germline and somatic mutational landscape in a cohort of malignant pleural mesothelioma patients

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Annals of oncology 2020年 31卷 S1077-S1077页

作者： M. Gausachs D. Azuara A. López-Doriga D. Cordero G. Vargas S. González M. Pineda L. Feliubadaló S. Padrones F. Rivas A. Urena R. Llatjós R. Palmero M. Arellano A. Teule J. Brunet G. Capellá X. Solé C. Lázaro E. Nadal Clinical Research in Solid Tumors Group IDIBELL - ICO L'Hospitalet de Llobregat Spain Hereditary Cancer Program IDIBELL - ICO L'Hospitalet de Llobregat Spain Oncology Data Analytics Program (ODAP) IDIBELL - ICO L'Hospitalet de Llobregat Spain Department of Respiratory Medicine Hospital Universitari de Bellvitge L'Hospitalet de Llobregat Spain Department of Thoracic Surgery Hospital Universitari de Bellvitge L'Hospitalet de Llobregat Spain Department of Pathology Hospital Universitari de Bellvitge L'Hospitalet de Llobregat Spain Medical Oncology ICO - Institut Català d'Oncologia l'Hospitalet (Hospital Duran i Reynals) Hospitalet de Llobregat Spain Medical Oncology ICO - Institut Català d'Oncologia l'Hospitalet (Hospital Duran i Reynals) Hospitalet de Llobregat Barcelona Spain

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201P Phase II study of taminadenant (A2AR antagonist) + spartalizumab (anti PD-1 antibody) in patients with triple-negative breast cancer (TNBC)

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Immuno-oncology and Technology 2022年 16卷 100312-100312页

作者： Jerusalem, G. De Braud, F.G.M. de Jonge, M.J.A. Grell, P. Gonçalves, A. Tan, T.J.Y. Greil, R. Yap, T.A. Lin, C-C. Kornbluth, K.A. Yang, X. Vong, C. Choudhury, S. Mataraza, J. Lee, L.H. Otero, J.A. Garralda, E. Medical Oncology CHU Liege and Liege University Liège Belgium Medical Oncology & Haemathology Department University of Milan and Fondazione IRCCS Istituto Nazionale dei Tumori Milan Italy Medical Oncology Department Erasmus MC Cancer Institute Rotterdam Netherlands Medical Oncology Masaryk Memorial Cancer Institute Brno Czech Republic Medical Oncology Department Institut Paoli-Calmettes and Aix-Marseille University Marseille France Medical Oncology Department National Cancer Centre Singapore Medical Oncology Paracelsus Medical University Hospital Cancer Research Institute-Center for Clinical Cancer and Immunology Trials Gmbh and Cancer Cluster Salzburg Austria Investigational Cancer Therapeutics Dept. (Phase I Program) The University of Texas M. D. Anderson Cancer Center Houston TX USA Department of Oncology National Taiwan University Hospital Taipei Taiwan Translational Clinical Oncology Novartis Institutes for BioMedical Research Cambridge MA USA Early Development Biostatistics Novartis Institutes for BioMedical Research Cambridge MA USA Early Development Analytics Novartis Institutes for BioMedical Research Basel Switzerland Clinical Pharmacology Novartis Institutes for BioMedical Research Cambridge MA USA Oncology Novartis Institutes for BioMedical Research Cambridge MA USA Oncology Data Science Novartis Institutes for BioMedical Research Cambridge MA USA Early Drug Development Group Hospital Universitari Vall d'Hebron Barcelona Spain

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LGG-52. Volumetry-based response characterization of recurrent pediatric low-grade gliomas in PNOC clinical Neuro-oncology trials

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Neuro-oncology 2022年第SUPPLEMENT_1期24卷 i100–i100页

作者： Marc von Reppert MingDe Lin Khaled Bousabarah Ariana Familiar Ryan Velasco Angela Waanders Arastoo Vossough Amanda Haddock Theodore Nicolaides Kristin Swanson Anahita Kazerooni Cassie Kline Ali Nabavizadeh Daphne Haas-Kogan Michael Prados Joshua Rubin Sabine Mueller Mariam Aboian Department of Radiology &amp Biomedical Imaging Yale School of Medicine New Haven CT USA Visage Imaging Inc San Diego CA USA Visage Imaging GmbH Berlin Germany Center for Data Driven Discovery in Biomedicine Perelman School of Medicine University of Pennsylvania Philadelphia PA USA Department of Pediatrics Feinberg School of Medicine Northwestern University Chicago IL USA Department of Radiology Perelman School of Medicine University of Pennsylvania Philadelphia PA USA Children' s Brain Tumor Network Center for Biomedical Image Computing and Analytics Perelman School of Medicine University of Pennsylvania Philadelphia PA USA Division of Pediatric Hematology/Oncology NYU Langone Medical Center New York NY USA Mathematical NeuroOncology Lab Precision Neurotherapeutics Innovation Program Mayo Clinic Phoenix AZ USA Center for Biomedical Image Computing and Analytics Perelman School of Medicine University of Pennsylvania Philadelphia PA USA Division of Oncology Children’s Hospital of Philadelphia Philadelphia PA USA Department of Radiation Oncology Dana-Farber Cancer Institute Brigham and Women's Hospital Harvard Medical School Boston MA USA Division of Neuro-Oncology Department of Neurological Surgery University of California San Francisco CA USA Department of Pediatrics and Neuroscience Washington University School of Medicine St. Louis MO USA Departments of Pediatrics Neurology and Neurological Surgery University of California San Francisco San Francisco CA USA

BACKGROUND : Endpoints in clinical trials using novel treatments are evaluated by RANO criteria, which provide an estimate of tumor size from two-dimensional measurements along the most prominent axial slice. However, pediatric low-grade gliomas (pLGG) commonly have variegated shapes with solid and cystic components, potentially resulting in misevaluation of true tumor volume and thus, ultimately, trial outcome. OBJECTIVES : We aim to characterize treatment response through volumetric assessment of progressive/recurrent pLGGs treated with single-agent everolimus on PNOC001 clinical trial. We seek to identify clinically relevant criteria that provide added value to response assessment beyond 2D measurements. METHODS : In a cohort of 44 patients we performed 3D-segmentation of solid, cystic and whole tumor within our PACS-framework and compared results to previously carried-out central imaging review by RANO criteria which had yielded 15 PD, 27 SD, 2 PR and 0 CR. RESULTS : 8 tumors were solid only and 36 had a mixed solid-cystic appearance. When evaluating the entire tumor (i.e. solid and cystic components combined) and using the same RANO cutoff criteria, one case changed from PR to SD, one changed from SD to PR, 3 changed from SD to PD, and 7 changed from PD to SD, resulting in an overall discordance of 27% of cases. CONCLUSION : We propose that incorporation of volumetrics into response assessment provides additional and potentially more accurate information beyond RANO-based measurements. It is crucial to note that the above-reported changes represent numerical discrepancies as opposed to true-to-reality changes in clinical outcome. Determining representative thresholds for the deployment of volumetric measures in clinical trials will be critical. Future work will include data from the PNOC002 clinical trial and evaluate inter-reader agreement and reader discordance. With the availability of PACS-based 3D-tools in neuroradiology practice, well-defined volumetric c

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CHARACTERIZATION OF THE ONCOGENIC PHENOTYPE IN EXTRANODAL NATURAL KILLER/T-CELL LYMPHOMA, NASAL TYPE THROUGH GENE EXPRESSION PROFILE. SPANISH LYMPHOMA GROUP GELTAMO

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Hematological oncology 2021年第S2期39卷

作者： E González-Barca L Gato A Esteve R Sanz-Pamplona L Tomás M Rodriguez A Martín García-Sancho R Córdoba A Monter M Bastos J. M Bergua Burgues M. J Sayas M. C Viguria Alegria J. J Sánchez Blanco M Roig H. D Luzardo Henriquez R Oña E Cabezudo M. S Infante J. A Queizan O Blanco Nuñez A Mozos F Climent M. A Piris Institut Català d’Oncologia Hospital Duran i Reynals Institut d’Investigació Biomèdica de Bellvitge (IDIBELL) Universitat de Barcelona Hematology L’Hospitalet de Llobregat Barcelona Spain Fundación Jiménez Díaz CIBERONC Pathology Madrid Spain nsititut Català d'Oncologia Unit of Biomarkers and Susceptibility Oncology Data Analytics Program (ODAP) Medical Oncology Department B-ARGO Badalona Badalona Barcelona Spain Catalan Institute of Oncology (ICO) Oncobell Program Bellvitge Biomedical Research Institute (IDIBELL) and CIBERESP Unit of Biomarkers and Susceptibility Oncology Data Analytics Program (ODAP) L'Hospitalet de Llobregat Barcelona Spain Hospital Universitario de Salamanca IBSAL Hematology Salamanca Spain Fundación Jimenez Díaz Hematology Madrid Spain Hospital de la Santa Creu i Sant Pau Hematology Barcelona Spain Gregorio Marañón General University Hospital (HGUGM) Hematology Madrid Spain Hospital San Pedro de Alcántara Hematology Cáceres Spain Hospital Universitario Dr Peset Hematology Valencia Spain Complejo Hospitalario de Navarra Hematology Pamplona Spain Hospital Morales Messeguer Hematology Murcia Spain Hospital La Fe Hematology Valencia Spain Hospital Dr Negrín Hematology Las Palmas de Gran Canaria Spain MD Anderson Cancer Center Hematology Madrid Spain Insititut Català d'Oncologia Hospital Moises Broggi Hematology San Juan Despí Barcelona Spain Hospital Infanta Leonor Hematology Madrid Spain Hospital General de Segovia Hematology Segovia Spain Hospital Universitario de Salamanca IBSAL Pathology Salamanca Spain Hospital de la Santa Creu i Sant Pau Pathology Barcelona Spain Hospital Universitario de Bellvitge Institut d'Investigaciò Biomédica de Bellvitge IDIBELL Pathology Hospitalet de LLobregat Barcelona Spain Fundación Jiménez Díaz Pathology Madrid Spain

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Author Correction: COLONOMICS - integrative omics data of one hundred paired normal-tumoral samples from colon cancer patients

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Scientific data 2022年第1期9卷 712页

作者： Anna Díez-Villanueva Rebeca Sanz-Pamplona Xavier Solé David Cordero Marta Crous-Bou Elisabet Guinó Adriana Lopez-Doriga Antoni Berenguer Susanna Aussó Laia Paré-Brunet Mireia Obón-Santacana Ferran Moratalla-Navarro Ramon Salazar Xavier Sanjuan Cristina Santos Sebastiano Biondo Virginia Diez-Obrero Ainhoa Garcia-Serrano Maria Henar Alonso Robert Carreras-Torres Adria Closa Víctor Moreno Oncology Data Analytics Program Catalan Institute of Oncology (ICO). Hospitalet de Llobregat Barcelona Spain. Colorectal Cancer Group ONCOBELL Bellvitge Biomedical Research Institute (IDIBELL). Hospitalet de Llobregat Barcelona Spain. Biomedical Research Centre Network for Epidemiology and Public Health (CIBERESP) Madrid Spain. Molecular Biology CORE Center for Biomedical Diagnostics Hospital Clínic de Barcelona 08036 Barcelona Spain. Translational Genomic and Targeted Therapeutics in Solid Tumors August Pi i Sunyer Biomedical Research Institute (IDIBAPS) 08036 Barcelona Spain. Unit of Nutrition and Cancer Cancer Epidemiology Research Program Catalan Institute of Oncology (ICO) - Bellvitge Biomedical Research Institute (IDIBELL). L'Hospitalet de Llobregat Barcelona 08908 Spain. Department of Epidemiology Harvard T.H. Chan School of Public Health Boston MA 02115 USA. Rheumatology Department - Parc Taulí Research and Innovation Institute (I3PT) Barcelona Spain. TIC Salut Social Foundation. Ministry of Health of Generalitat de Catalunya Barcelona Spain. Reveal Genomics. S.L. Barcelona Spain. Department of Clinical Sciences Faculty of Medicine and health Sciences and Universitat de Barcelona Institute of Complex Systems (UBICS) University of Barcelona Barcelona Spain. Medical Oncology Department. Catalan Institute of Oncology (ICO) Hospitalet de Llobregat Barcelona Spain. Biomedical Research Centre Network for Oncology (CIBERONC) Madrid Spain. Pathology Service Bellvitge University Hospital (HUB) Hospitalet de Llobregat Barcelona Spain. Digestive Surgery Service Bellvitge University Hospital (HUB). Hospitalet de Llobregat Barcelona Spain. The John Curtin School of Medical Research Australian National University Canberra Australia. EMBL Australia Partner Laboratory Network at the Australian National University Canberra Australia. Oncology Data Analytics Program Catalan Institute of Oncology (ICO). Hospitalet de Llobregat Barcelona Spain. v.moreno@iconcologia.ne

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Corrigendum to "HPV vaccination introduction worldwide and WHO and UNICEF estimates of national HPV immunization coverage 2010-2019" [Preventive Medicine 144 (2021) 106399]

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Preventive medicine 2022年 155卷 106925页

作者： Laia Bruni Anna Saura-Lázaro Alexandra Montoliu Maria Brotons Laia Alemany Mamadou Saliou Diallo Oya Zeren Afsar D Scott LaMontagne Liudmila Mosina Marcela Contreras Martha Velandia-González Roberta Pastore Marta Gacic-Dobo Paul Bloem Cancer Epidemiology Research Program Catalan Institute of Oncology (ICO) - IDIBELL l'Hospitalet de Llobregat Spain Centro de Investigación Biomédica en Red: Epidemiología y Salud Pública (CIBERESP CB06/02/0073) Madrid Spain. Electronic address: lbruni@***. Cancer Epidemiology Research Program Catalan Institute of Oncology (ICO) - IDIBELL l'Hospitalet de Llobregat Spain. Centro de Investigación Biomédica en Red: Epidemiología y Salud Pública (CIBERESP CB06/02/0073) Madrid Spain. Data and Analytics Unit Department of Analysis Planning & Monitoring UNICEF New York USA. Maternal Neonatal & Adolescent Health Unit Health Section UNICEF New York USA. Center for Vaccine Innovation and Access PATH Seattle USA. Division of Country Health Programmes Vaccine-preventable Diseases and Immunization (VPI) World Health Organization Regional Office for the Europe Copenhagen Denmark. Comprehensive Family Immunization Unit Pan American Health Organization PAHO/WHO Washington DC USA. Immunization Analysis & Insights Vaccines and Biologicals World Health Organization Geneva Switzerland. Life Course and Integration/ EPI Department of Immunization Vaccines and Biologicals World Health Organization Geneva Switzerland.

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Deciphering colorectal cancer genetics through multi-omic analysis of 100,204 cases and 154,587 controls of European and east Asian ancestries (vol 55, pg 89, 2023)

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NATURE GENETICS 2023年第3期55卷 519-520页

作者： Fernandez-Rozadilla, Ceres Timofeeva, Maria Chen, Zhishan Law, Philip Thomas, Minta Schmit, Stephanie Diez-Obrero, Virginia Hsu, Li Fernandez-Tajes, Juan Palles, Claire Sherwood, Kitty Briggs, Sarah Svinti, Victoria Donnelly, Kevin Farrington, Susan Blackmur, James Vaughan-Shaw, Peter Shu, Xiao-ou Long, Jirong Cai, Qiuyin Guo, Xingyi Lu, Yingchang Broderick, Peter Studd, James Huyghe, Jeroen Harrison, Tabitha Conti, David Dampier, Christopher Devall, Mathew Schumacher, Fredrick Melas, Marilena Rennert, Gad Obon-Santacana, Mireia Martin-Sanchez, Vicente Moratalla-Navarro, Ferran Oh, Jae Hwan Kim, Jeongseon Jee, Sun Ha Jung, Keum Ji Kweon, Sun-Seog Shin, Min-Ho Shin, Aesun Ahn, Yoon-Ok Kim, Dong-Hyun Oze, Isao Wen, Wanqing Matsuo, Keitaro Matsuda, Koichi Tanikawa, Chizu Ren, Zefang Gao, Yu-Tang Jia, Wei-Hua Hopper, John Jenkins, Mark Win, Aung Ko Pai, Rish Figueiredo, Jane Haile, Robert Gallinger, Steven Woods, Michael Newcomb, Polly Duggan, David Cheadle, Jeremy Kaplan, Richard Maughan, Timothy Kerr, Rachel Kerr, David Kirac, Iva Bohm, Jan Mecklin, Lukka-Pekka Jousilahti, Pekka Knekt, Paul Aaltonen, Lauri Rissanen, Harri Pukkala, Eero Eriksson, Johan Cajuso, Tatiana Hanninen, Ulrika Kondelin, Johanna Palin, Kimmo Tanskanen, Tomas Renkonen-Sinisalo, Laura Zanke, Brent Mannisto, Satu Albanes, Demetrius Weinstein, Stephanie Ruiz-Narvaez, Edward Palmer, Julie Buchanan, Daniel Platz, Elizabeth Visvanathan, Kala Ulrich, Cornelia Siegel, Erin Brezina, Stefanie Gsur, Andrea Campbell, Peter Chang-Claude, Jenny Hoffmeister, Michael Brenner, Hermann Slattery, Martha Potter, John Tsilidis, Konstantinos Schulze, Matthias Gunter, Marc Murphy, Neil Castells, Antoni Castellvi-Bel, Sergi Moreira, Leticia Arndt, Volker Shcherbina, Anna Stern, Mariana Pardamean, Bens Bishop, Timothy Giles, Graham Southey, Melissa Idos, Gregory McDonnell, Kevin Abu-Ful, Zomoroda Greenson, Joel Shulman, Katerina Lejbkowicz, Flavio Offit, Kenneth Su, Yu-Ru Steinfelder, Robert Keku, Temitope van Guelpen, Bethany Hudson, Thomas Hampel, Heather Pearlman, Edinburgh Cancer Research Centre Institute of Genomics and Cancer University of Edinburgh Edinburgh UK Genomic Medicine Group Instituto de Investigacion Sanitaria de Santiago Santiago de Compostela Spain Colon Cancer Genetics Group Medical Research Council Human Genetics Unit Institute of Genetics and Cancer University of Edinburgh Edinburgh UK Danish Institute for Advanced Study Department of Public Health University of Southern Denmark Odense Denmark Division of Epidemiology Department of Medicine Vanderbilt-Ingram Cancer Center Vanderbilt Epidemiology Center Vanderbilt University Medical Center Nashville TN USA Division of Genetics and Epidemiology Institute of Cancer Research London UK Public Health Sciences Division Fred Hutchinson Cancer Research Center Seattle WA USA Genomic Medicine Institute Cleveland Clinic Cleveland OH USA Population and Cancer Prevention Program Case Comprehensive Cancer Center Cleveland OH USA Colorectal Cancer Group ONCOBELL Program Bellvitge Biomedical Research Institute Barcelona Spain Oncology Data Analytics Program Catalan Institute of Oncology Barcelona Spain Consortium for Biomedical Research in Epidemiology and Public Health Madrid Madrid Spain Department of Clinical Sciences Faculty of Medicine University of Barcelona Barcelona Spain Department of Biostatistics School of Public Health University of Washington Seattle WA USA Institute of Cancer and Genomic Sciences College of Medical and Dental Sciences University of Birmingham Birmingham UK Department of Public Health Richard Doll Building University of Oxford Oxford UK Department of Biomedical Informatics Vanderbilt University School of Medicine Nashville TN USA Department of Preventive Medicine USC Norris Comprehensive Cancer Center Keck School of Medicine University of Southern California Los Angeles CA USA Center for Public Health Genomics Department of Public Health Sciences University of Virginia Charlottesville VA USA Department of Populat

Colorectal cancer (CRC) is a leading cause of mortality worldwide. We conducted a genome-wide association study meta-analysis of 100,204 CRC cases and 154,587 controls of European and east Asian ancestry, identifying 205 independent risk associations, of which 50 were unreported. We performed integrative genomic, transcriptomic and methylomic analyses across large bowel mucosa and other tissues. Transcriptome- and methylome-wide association studies revealed an additional 53 risk associations. We identified 155 high-confidence effector genes functionally linked to CRC risk, many of which had no previously established role in CRC. These have multiple different functions and specifically indicate that variation in normal colorectal homeostasis, proliferation, cell adhesion, migration, immunity and microbial interactions determines CRC risk. Crosstissue analyses indicated that over a third of effector genes most probably act outside the colonic mucosa. Our findings provide insights into colorectal oncogenesis and highlight potential targets across tissues for new CRC treatment and chemoprevention strategies.

关键词： Colorectal cancer Epigenomics Genome-wide association studies Transcriptomics

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