Abstract

ABSTRACT Over the last decade since the provision of the reference human genome DNA sequence, increasingly extensive sequence analyses of cancer genomes have led to the discovery of new mutated cancer genes and have explored the extant patterns of somatic mutation. The scope of these investigations has been constrained by sequence throughout and cost. However, the recent advent of novel sequencing technologies has ushered in a new era of cancer genome characterisation leading to partial or complete catalogues of somatic mutations in individual cancers. The combinations of mutated cancer genes and the mutational processes that are operative in the subclasses of breast cancer are becoming apparent. These studies are bringing new insights into the etiology, pathogenesis and classification of the genetically heterogeneous set of diseases that are collectively termed breast cancer. Disclosure The author has declared no conflicts of interest.

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