Carlos Balcazar Lopez

Postdoctoral Fellow

Research areas and keywords

UKÄ subject classification

  • Cancer and Oncology
  • Cell and Molecular Biology


  • Sequencing, Breast cancer


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.

Recent research outputs

COG-UK Consortium COG-UK Consortium & Carlos Enrique Balcazar Lopez , 2021 Jan 7, In: Cell. 184, 1, p. 64-75.e11

Research output: Contribution to journalArticle

Ana da Silva Filipe, James G Shepherd, Thomas Williams, Joseph Hughes, Elihu Aranday-Cortes, Patawee Asamaphan, Shirin Ashraf, Carlos Enrique Balcazar Lopez , Kirstyn Brunker, Alasdair Campbell, Stephen Carmichael, Chris Davis, Rebecca Dewar, Michael D Gallagher, Rory Gunson, Verity Hill, Antonia Ho, Ben Jackson, Edward James, Natasha Jesudason & 31 others, Natasha Johnson, E Carol McWilliam Leitch, Kathy Li, Alasdair MacLean, Daniel Mair, David A McAllister, John T McCrone, Sarah E McDonald, Martin P McHugh, A Keith Morris, Jenna Nichols, Marc Niebel, Kyriaki Nomikou, Richard J Orton, Áine O'Toole, Massimo Palmarini, Benjamin J Parcell, Yasmin A Parr, Andrew Rambaut, Stefan Rooke, Sharif Shaaban, Rajiv Shah, Joshua B Singer, Katherine Smollett, Igor Starinskij, Lily Tong, Vattipally B Sreenu, Elizabeth Wastnedge, Matthew T G Holden, David L Robertson & COVID-19 Genomics UK (COG-UK) Consortium COVID-19 Genomics UK (COG-UK) Consortium, 2021 Jan, In: Nature Microbiology. 6, 1, p. 112-122 11 p.

Research output: Contribution to journalArticle

Frida Enoksson, Alicia Ruiz Rodriguez, Chikondi Peno, Carlos Balcazar Lopez, Fredrik Tjernström, Debby Bogaert, Anders P Hakansson & Caroline Bergenfelz, 2020 Sep, In: Infection and Immunity. 88, 10, e00147-20.

Research output: Contribution to journalArticle

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