Cancer genetics has become a crucial aspect in the practice of medical oncology.
Approximately 10% of all cancers develop in individuals who have inherited a genetic mutation conferring elevated susceptibility to specific cancer types. While these individuals comprise a small proportion of the overall burden of cancer, the ability to distinguish them from ‘sporadic’ cancer cases permits targeted efforts in cancer surveillance and prevention affecting whole families and future generations. Moreover, these targeted strategies successfully reducing
their cancer risks may be generalizable to the broader population. Genotyping such patients has become more effortless than ever with the introduction of Next Generation sequencing (NGS). However, this new technology brings new challenges in terms of data management and interpretation, which can be met with the use of bioinformatics. The proposed PhD study aims in developing and optimizing germline and somatic NGS data analysis pipelines, studying the correlation of germline and somatic genotypes and developing a unique for the Greek population cancer-specific mutation database.