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oai:recercat.cat:11351/37902026-03-26T05:29:40Zcom_2072_378070com_2072_378040col_2072_378092

Shared heritability and functional enrichment across six solid cancers Jiang, Xia Finucane, Hilary K Schumacher, Fredrick R Schmit, Stephanie L Han, Younghun Diez Gibert, Orland Tyrer, Jonathan Institut Català de la Salut [Jiang X] Program in Genetic Epidemiology and Statistical Genetics, Harvard T.H. Chan School of Public Health, Boston, MA, USA. Unit of Cardiovascular Epidemiology, Institute of Environmental Medicine, Karolinska Institutet, Stockholm, Sweden. [Finucane HK] Department of Epidemiology, Harvard T.H. Chan School of Public Health, Boston, MA, USA. Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, , Cambridge, MA, USA. [Schumacher FR] Department of Population and Quantitative Health Sciences, Case Western Reserve University, Cleveland, OH, USA. Seidman Cancer Center, University Hospitals, Cleveland, OH, USA. [Schmit SL] Department of Cancer Epidemiology, H. Lee Moffitt Cancer Center and Research Institute, Tampa, FL, USA. Department of Gastrointestinal Oncology, H. Lee Moffitt Cancer Center and Research Institute, Tampa, FL, USA. [Tyrer JP] Centre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Cambridge, UK. [Han Y] Department of Biomedical Data Science, The Geisel School of Medicine at Dartmouth, Lebanon, NH, USA. [Diez O] Grup d'Oncogenètica, Vall d'Hebron Institut d'Oncologia, Barcelona, Spain. Hospital Universitari Vall d'Hebron, Barcelona, Spain Vall d'Hebron Barcelona Hospital Campus Codi genètic Càncer - Aspectes genètics Càncer - Estudi de casos DISEASES::Neoplasms Other subheadings::Other subheadings::Other subheadings::/genetics Other subheadings::Other subheadings::Other subheadings::Other subheadings::/ethnology PHENOMENA AND PROCESSES::Genetic Phenomena::Inheritance Patterns ANALYTICAL, DIAGNOSTIC AND THERAPEUTIC TECHNIQUES AND EQUIPMENT::Investigative Techniques::Epidemiologic Methods::Epidemiologic Study Characteristics::Epidemiologic Studies::Case-Control Studies ENFERMEDADES::neoplasias Otros calificadores::Otros calificadores::Otros calificadores::/genética Otros calificadores::Otros calificadores::Otros calificadores::Otros calificadores::/etnología FENÓMENOS Y PROCESOS::fenómenos genéticos::patrones de herencia TÉCNICAS Y EQUIPOS ANALÍTICOS, DIAGNÓSTICOS Y TERAPÉUTICOS::técnicas de investigación::métodos epidemiológicos::características de los estudios epidemiológicos::estudios epidemiológicos::estudios de casos y controles Cancer; Heritability; Functional enrichment Càncer; Heretabilitat; Enriquiment funcional Cáncer; Heredabilidad; Enriquecimiento funcional Quantifying the genetic correlation between cancers can provide important insights into the mechanisms driving cancer etiology. Using genome-wide association study summary statistics across six cancer types based on a total of 296,215 cases and 301,319 controls of European ancestry, here we estimate the pair-wise genetic correlations between breast, colorectal, head/neck, lung, ovary and prostate cancer, and between cancers and 38 other diseases. We observed statistically significant genetic correlations between lung and head/neck cancer (rg = 0.57, p = 4.6 × 10−8), breast and ovarian cancer (rg = 0.24, p = 7 × 10−5), breast and lung cancer (rg = 0.18, p =1.5 × 10−6) and breast and colorectal cancer (rg = 0.15, p = 1.1 × 10−4). We also found that multiple cancers are genetically correlated with non-cancer traits including smoking, psychiatric diseases and metabolic characteristics. Functional enrichment analysis revealed a significant excess contribution of conserved and regulatory regions to cancer heritability. Our comprehensive analysis of cross-cancer heritability suggests that solid tumors arising across tissues share in part a common germline genetic basis. 2019-02-18T12:03:07Z 2019-02-18T12:03:07Z 2019-01-25 info:eu-repo/semantics/article info:eu-repo/semantics/publishedVersion Jiang X, Finucane H, Schumacher F, Schmit S, Tyrer J, Han Y, et al. Shared heritability and functional enrichment across six solid cancers. Nat Commun. 2019;10(1). 2041-1723 https://hdl.handle.net/11351/3790 10.1038/s41467-018-08054-4 30683880 WOS:000456696700007 eng Nature Communications;10(1) https://www.nature.com/articles/s41467-018-08054-4 Attribution-NonCommercial-NoDerivatives 4.0 International http://creativecommons.org/licenses/by-nc-nd/4.0/ info:eu-repo/semantics/openAccess application/pdf Nature Research Scientia