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Cancer genomes tolerate deleterious coding mutations through somatic copy number amplifications of wild-type regions
Most of the mutations accumulated in cancer cells are deleterious, and it is unclear how such alterations are tolerated. Here, the authors propose that copy number amplifications could increase the tolerance to deleterious mutations, and analyse the features that could determine the underlying selection process.
- Fabio Alfieri
- , Giulio Caravagna
- & Martin H. Schaefer
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Article
| Open Access
Macrotene chromosomes provide insights to a new mechanism of high-order gene amplification in eukaryotes
Copy number variation is an important source of genetic variation in natural populations and may have a role in human disease. Here, the authors identify high-order amplification structures that form large extended chromosomes and suggest that these may occur due to accidental template switching in stress conditions.
- Agnès Thierry
- , Varun Khanna
- & Bernard Dujon
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Massive gene amplification drives paediatric hepatocellular carcinoma caused by bile salt export pump deficiency
Hepatocellular carcinoma (HCC) is associated with chronic inflammation, but the genetic basis of the disease remains unclear. Here, the authors report that defects in hepatocyte biliary transporters and subsequent liver inflammation induce genomic alterations that promote HCC in human and mouse.
- Fabio Iannelli
- , Agnese Collino
- & Francesca D. Ciccarelli
Oncogenic structural aberration landscape in gastric cancer genomes