Foto av Carlos Balcazar Lopez

Carlos Balcazar Lopez

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    Personlig profil

    Forskning

    High-throughput sequencing is driving biomarker discovery and is used as a clinical tool in oncology for the identification of both germline variants in cancer susceptibility and somatic mutations in tumors. Many detected mutations are currently poorly understood and classified as “variants of unknown significance” (VUS); defining their function and consequent clinical impact is urgently needed, as their disease penetrance is controversial, and their molecular effects are not known. A subset of these has been described as ‘silent’ or synonymous since they only affect DNA and mRNA but not the resulting protein.

    Existing exome and whole genome synonymous variants data for established high-risk genes in familial breast cancer that might be significant at the population level are generally not perceived as likely to be causative and largely ignored, leading to a significant gap in knowledge. This project hypothesizes that the effects of synonymous variants will be strong enough to associate with patient outcome and aims to clarify the impact on the pathogenesis of identified synonymous variants in familial breast cancer susceptibility genes, which will build a risk prediction model and inform clinical decision-making regarding surveillance, screening, and prophylactic surgery.

    Ämnesklassifikation (UKÄ)

    • Cancer och onkologi
    • Cell- och molekylärbiologi

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