David N. Cooper, PhD
Professor of Human Molecular Genetics, Institute of Medical Genetics, School of Medicine, Cardiff University, Cardiff, UK.
Special Issue Introduction
Tumorigenesis is a multistep process that begins with the transformation of a single cell which acquires one or more of the “hallmarks of cancer”. Cells acquire these characteristics through numerous somatic mutations caused by errors of DNA replication, the action of exogenous mutagens or endogenous DNA damage, leading to the activation of oncogenes and the inactivation of tumour suppressors. Different tumours differ with respect to their mutational spectra and these patterns of mutation are often characteristic of the tumour in question. Genetic susceptibility to cancer is also conferred by inherited variants of cancer predisposition genes. As whole exome/genome sequencing becomes commonplace in a clinical genetics/personalised genomics setting, we are gradually developing an understanding of the role of both inherited and acquired variants in tumorigenesis. We plan to publish reviews of the molecular genetics of human cancers which we hope will allow the reader to compare and contrast some of the 100+ different human cancers in terms of their underlying mutational spectra.
Cancer genetics, genomics, genome, mutation, mutational spectra, personalized medicine
30 Apr 2019