@misc{10818/60144,
year = {2020},
url = {http://hdl.handle.net/10818/60144},
abstract = {Genome-wide association studies have identified breast cancer risk variants in over 150 genomic regions, but the mechanisms underlying risk remain largely unknown. These regions were explored by combining association analysis with in silico genomic feature annotations. We defined 205 independent risk-associated signals with the set of credible causal variants in each one. In parallel, we used a Bayesian approach (PAINTOR) that combines genetic association, linkage disequilibrium and enriched genomic features to determine variants with high posterior probabilities of being causal. Potentially causal variants were significantly over-represented in active gene regulatory regions and transcription factor binding sites. We applied our INQUSIT pipeline for prioritizing genes as targets of those potentially causal variants, using gene expression (expression quantitative trait loci), chromatin interaction and functional annotations. Known cancer drivers, transcription factors and genes in the developmental, apoptosis, immune system and DNA integrity checkpoint gene ontology pathways were over-represented among the highest-confidence target genes. © 2020, The Author(s), under exclusive licence to Springer Nature America, Inc.},
publisher = {Nature Genetics},
title = {Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes},
doi = {10.1038/s41588-019-0537-1},
author = {Fachal L. and Aschard H. and Beesley J. and Barnes D.R. and Allen J. and Kar S. and Pooley K.A. and Dennis J. and Michailidou K. and Turman C. and Soucy P. and Lemaçon A. and Lush M. and Tyrer J.P. and Ghoussaini M. and Marjaneh M.M. and Jiang X. and Agata S. and Aittomäki K. and Alonso M.R. and Andrulis I.L. and Anton-Culver H. and Antonenkova N.N. and Arason A. and Arndt V. and Aronson K.J. and Arun B.K. and Auber B. and Auer P.L. and Azzollini J. and Balmaña J. and Barkardottir R.B. and Barrowdale D. and Beeghly-Fadiel A. and Benitez J. and Bermisheva M. and Bialkowska K. and Blanco A.M. and Blomqvist C. and Blot W. and Bogdanova N.V. and Bojesen S.E. and Bolla M.K. and Bonanni B. and Borg A. and Bosse K. and Brauch H. and Brenner H. and Briceno I. and Brock I.W. and Brooks-Wilson A. and Brüning T. and Burwinkel B. and Buys S.S. and Cai Q. and Caldés T. and Caligo M.A. and Camp N.J. and Campbell I. and Canzian F. and Carroll J.S. and Carter B.D. and Castelao J.E. and Chiquette J. and Christiansen H. and Chung W.K. and Claes K.B.M. and Clarke C.L. and Mari V. and Berthet P. and Castera L. and Vaur D. and Lallaoui H. and Bignon Y.-J. and Uhrhammer N. and Bonadona V. and Lasset C. and Révillion F. and Vennin P. and Muller D. and Gomes D.M. and Ingster O. and Coupier I. and Pujol P. and Collonge-Rame M.-A. and Mortemousque I. and Bera O. and Rose M. and Baurand A. and Bertolone G. and Faivre L. and Dreyfus H. and Leroux D. and Venat-Bouvet L. and Bézieau S. and Delnatte C. and Chiesa J. and Gilbert-Dussardier B. and Gesta P. and Prieur F.P. and Bronner M. and Sokolowska J. and Coulet F. and Boutry-Kryza N. and Calender A. and Giraud S. and Leone M. and Fert-Ferrer S. and Stoppa-Lyonnet D. and Jiao Y. and Lesueur F.L. and Mebirouk N. and Barouk-Simonet E. and Bubien V. and Longy M. and Sevenet N. and Gladieff L. and Toulas C. and Reimineras A. and Sobol H. and Paillerets B.B.-D. and Cabaret O. and Caron O. and Guillaud-Bataille M. and Rouleau E. and 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}