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Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes
Journal Contribution - Journal Article
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.
Journal: Nature Genetics
ISSN: 1061-4036
Issue: 1
Volume: 52
Pages: 56 - 73
Publication year:2020
- WoS Id: 000508163500002
- Institutional Repository URL: https://lirias.kuleuven.be/2935595
- DOI: https://doi.org/10.1038/s41588-019-0537-1
- PubMed Id: 31911677
BOF-keylabel:yes
IOF-keylabel:yes
BOF-publication weight:10
CSS-citation score:4
Authors:International
Authors from:Government, Higher Education
Accessibility:Open
Authors/publisher
- Laura Fachal (First author)
- Hugues Aschard (Author)
- Jonathan Beesley (Author)
- Daniel R Barnes (Author)
- Jamie Allen (Author)
- Siddhartha Kar (Author)
- Karen A Pooley (Author)
- Joe Dennis (Author)
- Kyriaki Michailidou (Author)
- Constance Turman (Author)
- Penny Soucy (Author)
- Audrey Lemacon (Author)
- Michael Lush (Author)
- Jonathan P Tyrer (Author)
- Maya Ghoussaini (Author)
- Mahdi Moradi Marjaneh (Author)
- Xia Jiang (Author)
- Simona Agata (Author)
- Kristiina Aittomaki (Author)
- M Rosario Alonso (Author)
- Irene L Andrulis (Author)
- Hoda Anton-Culver (Author)
- Natalia N Antonenkova (Author)
- Adalgeir Arason (Author)
- Volker Arndt (Author)
- Kristan J Aronson (Author)
- Banu K Arun (Author)
- Bernd Auber (Author)
- Paul L Auer (Author)
- Jacopo Azzollini (Author)
- Judith Balmana (Author)
- Rosa B Barkardottir (Author)
- Daniel Barrowdale (Author)
- Alicia Beeghly-Fadiel (Author)
- Javier Benitez (Author)
- Marina Bermisheva (Author)
- Katarzyna Bialkowska (Author)
- Amie M Blanco (Author)
- Carl Blomqvist (Author)
- William Blot (Author)
- Natalia Bogdanova (Author)
- Stig E Bojesen (Author)
- Manjeet K Bolla (Author)
- Bernardo Bonanni (Author)
- Ake Borg (Author)
- Kristin Bosse (Author)
- Hiltrud Brauch (Author)
- Hermann Brenner (Author)
- Ignacio Briceno (Author)
- Ian W Brock (Author)
- Angela Brooks-Wilson (Author)
- Thomas Bruening (Author)
- Barbara Burwinkel (Author)
- Saundra S Buys (Author)
- Qiuyin Cai (Author)
- Trinidad Caldes (Author)
- Maria A Caligo (Author)
- Nicola J Camp (Author)
- Ian Campbell (Author)
- Federico Canzian (Author)
- Jason S Carroll (Author)
- Brian D Carter (Author)
- Jose E Castelao (Author)
- Jocelyne Chiquette (Author)
- Hans Christiansen (Author)
- Wendy K Chung (Author)
- Kathleen BM Claes (Author)
- Christine L Clarke (Author)
- J Margriet Collee (Author)
- Sten Cornelissen (Author)
- Fergus J Couch (Author)
- Angela Cox (Author)
- Simon S Cross (Author)
- Cezary Cybulski (Author)
- Kamila Czene (Author)
- Mary B Daly (Author)
- Miguel de la Hoya (Author)
- Peter Devilee (Author)
- Orland Diez (Author)
- Yuan Chun Ding (Author)
- Gillian S Dite (Author)
- Susan M Domchek (Author)
- Thilo Doerk (Author)
- Isabel dos-Santos-Silva (Author)
- Arnaud Droit (Author)
- Stephane Dubois (Author)
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- Lorraine Durcan (Author)
- Miriam Dwek (Author)
- Diana M Eccles (Author)
- Christoph Engel (Author)
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- D Gareth Evans (Author)
- Peter A Fasching (Author)
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