Silvo CONTICELLO

 Istituto di Fisiologia Clinica – CNR, Istituto per lo studio, le prevenzione e la rete oncologica (ISPRO), Firenze, ITALY 

 APOBECs in Cancer Evolution 

cell-free DNA Cancer Genomics via Third-Gen Sequencing 

Host: G. DEL SAL

 APOBECs, self-inflicted DNA damage, and cancer 

The AID/APOBECs are deaminases involved in the editing of cytosines in nucleic acids. They are mainly involved in the immune system, but their common ability to mutate nucleic acids represents a double edged sword, as their activity has been linked to the onset of mutations and chromosomal alterations in cancer. I will present the gene family and the many ways active deamination shapes the cancer genome and transcriptome (and also their use in biotechnology). 

Cancer genomics by Third Generation Sequencing of cell free DNA from liquid biopsy 

In the “precision oncology” era, characterisation of tumour genetic features is a pivotal step in cancer patients’ management. In contrast to the invasiveness of biopsies, liquid biopsy -the analysis of circulating tumour DNA from plasma cell-free DNA- represents a promising option for disease monitoring, but its use has been limited either to specific subsets of biomarkers or by financial/ logistical issues. In this part, I will show how shallow Whole genome Sequencing using Nanopore technology represents a competitive approach for cfDNA analysis, through which multiple features, both genetic and epigenetic can be extracted and exploited. 

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