Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00209805%3A_____%2F20%3A00078372" target="_blank" >RIV/00209805:_____/20:00078372 - isvavai.cz</a>
Result on the web
<a href="https://www.nature.com/articles/s41588-019-0537-1" target="_blank" >https://www.nature.com/articles/s41588-019-0537-1</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1038/s41588-019-0537-1" target="_blank" >10.1038/s41588-019-0537-1</a>
Alternative languages
Result language
angličtina
Original language name
Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes
Original language description
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.
Czech name
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Czech description
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Classification
Type
J<sub>imp</sub> - Article in a specialist periodical, which is included in the Web of Science database
CEP classification
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OECD FORD branch
30204 - Oncology
Result continuities
Project
—
Continuities
I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace
Others
Publication year
2020
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
Nature genetics
ISSN
1061-4036
e-ISSN
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Volume of the periodical
52
Issue of the periodical within the volume
1
Country of publishing house
US - UNITED STATES
Number of pages
25
Pages from-to
56-73
UT code for WoS article
000508163500002
EID of the result in the Scopus database
2-s2.0-85077675544