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    Item type:Publication,
    Variants in DNA double-strand break repair genes and risk of familial breast cancer in a South American population
    (Springer Science and Business Media LLC, 2010-01-07)
    Lilian Jara
    ;
    Karen Dubois
    ;
    Daniel Gaete
    ;
    Tomas de Mayo
    ;
    Nikalai Ratkevicius
    Scopus© Citations 41  3
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    Therapeutic alternatives for the treatment of type 1 hepatorenal syndrome: A Delphi technique-based consensus
    (2016)
    Juan P Arab
    ;
    Juan C Claro
    ;
    Juan P Arancibia
    ;
    JORGE SEBASTIAN CONTRERAS ROMO
    ;
    Fernando Gómez
    Scopus© Citations 8  2
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    Item type:Publication,
    Genetic variants in pre-miR-146a, pre-miR-499, pre-miR-125a, pre-miR-605, and pri-miR-182 are associated with breast cancer susceptibility in a south American population
    (2018)
    Sebastián Morales
    ;
    Tomas De Mayo
    ;
    Felipe Gulppi
    ;
    Patricio Gonzalez-Hormazabal
    ;
    Valentina Carrasco
    <jats:p>Breast cancer (BC) is one of the most frequent tumors affecting women worldwide. microRNAs (miRNAs) single-nucleotide polymorphisms (SNPs) likely contribute to BC susceptibility. We evaluated the association of five SNPs with BC risk in non-carriers of the BRCA1/2-mutation from a South American population. The SNPs were genotyped in 440 Chilean BRCA1/2-negative BC cases and 1048 controls. Our data do not support an association between rs2910164:G&gt;C or rs3746444:A&gt;G and BC risk. The rs12975333:G&gt;T is monomorphic in the Chilean population. The pre-miR-605 rs2043556-C allele was associated with a decreased risk of BC, both in patients with a strong family history of BC and in early-onset non-familial BC (Odds ratio (OR) = 0.5 [95% confidence interval (CI) 0.4–0.9] p = 0.006 and OR = 0.6 [95% CI 0.5–0.9] p = 0.02, respectively). The rs4541843-T allele is associated with increased risk of familial BC. This is the first association study on rs4541843 and BC risk. Previously, we showed that the TOX3-rs3803662:C&gt;T was significantly associated with increased risk of familial BC. Given that TOX3 mRNA is a target of miR-182, and that both the TOX3 rs3803662-T and pri-miR-182 rs4541843-T alleles are associated with increased BC risk, we evaluated their combined effect. Risk of familial BC increased in a dose-dependent manner with the number of risk alleles (p-trend = 0.0005), indicating an additive effect.</jats:p>
      3Scopus© Citations 24