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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

  • Czech description

Classification

  • Type

    J<sub>x</sub> - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)

  • CEP classification

    FD - Oncology and haematology

  • OECD FORD branch

Result continuities

  • Project

  • 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

  • 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