Genomic instability—an evolving hallmark of cancer

S Negrini, VG Gorgoulis, TD Halazonetis - Nature reviews Molecular …, 2010 - nature.com
S Negrini, VG Gorgoulis, TD Halazonetis
Nature reviews Molecular cell biology, 2010nature.com
Genomic instability is a characteristic of most cancers. In hereditary cancers, genomic
instability results from mutations in DNA repair genes and drives cancer development, as
predicted by the mutator hypothesis. In sporadic (non-hereditary) cancers the molecular
basis of genomic instability remains unclear, but recent high-throughput sequencing studies
suggest that mutations in DNA repair genes are infrequent before therapy, arguing against
the mutator hypothesis for these cancers. Instead, the mutation patterns of the tumour …
Abstract
Genomic instability is a characteristic of most cancers. In hereditary cancers, genomic instability results from mutations in DNA repair genes and drives cancer development, as predicted by the mutator hypothesis. In sporadic (non-hereditary) cancers the molecular basis of genomic instability remains unclear, but recent high-throughput sequencing studies suggest that mutations in DNA repair genes are infrequent before therapy, arguing against the mutator hypothesis for these cancers. Instead, the mutation patterns of the tumour suppressor TP53 (which encodes p53), ataxia telangiectasia mutated (ATM) and cyclin-dependent kinase inhibitor 2A (CDKN2A; which encodes p16INK4A and p14ARF) support the oncogene-induced DNA replication stress model, which attributes genomic instability and TP53 and ATM mutations to oncogene-induced DNA damage.
nature.com