Breast cancer risk variants at 6q25 display different phenotype associations and regulate ESR1, RMND1 and CCDC170
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00209805%3A_____%2F16%3AN0000061" target="_blank" >RIV/00209805:_____/16:N0000061 - isvavai.cz</a>
Alternative codes found
RIV/00216224:14110/16:00093819
Result on the web
<a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4938803/pdf/nihms783876.pdf" target="_blank" >https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4938803/pdf/nihms783876.pdf</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1038/ng.3521" target="_blank" >10.1038/ng.3521</a>
Alternative languages
Result language
angličtina
Original language name
Breast cancer risk variants at 6q25 display different phenotype associations and regulate ESR1, RMND1 and CCDC170
Original language description
We analyzed 3,872 common genetic variants across the ESR1 locus (encoding estrogen receptor a) in 118,816 subjects from three international consortia. We found evidence for at least five independent causal variants, each associated with different phenotype sets, including estrogen receptor (ER+ or ER−) and human ERBB2 (HER2+ or HER2−) tumor subtypes, mammographic density and tumor grade. The best candidate causal variants for ER− tumors lie in four separate enhancer elements, and their risk alleles reduce expression of ESR1, RMND1 and CCDC170, whereas the risk alleles of the strongest candidates for the remaining independent causal variant disrupt a silencer element and putatively increase ESR1 and RMND1 expression.
Czech name
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Czech description
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Classification
Type
J<sub>x</sub> - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)
CEP classification
FD - Oncology and haematology
OECD FORD branch
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Result continuities
Project
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Continuities
I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace
Others
Publication year
2016
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
48
Issue of the periodical within the volume
4
Country of publishing house
US - UNITED STATES
Number of pages
16
Pages from-to
374-386
UT code for WoS article
000372908800009
EID of the result in the Scopus database
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