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rare somatic variants

Friday 21 April 2017

Genome-wide sequencing studies have shown that individual malignancies contain many mutations that range from those commonly found in tumor genomes to rare somatic variants present only in a small fraction of lesions.

Such rare somatic variants dominate the landscape of genomic mutations in cancer, yet efforts to correlate somatic mutations found in one or few individuals with functional roles have been largely unsuccessful.

Traditional methods for identifying somatic variants that drive cancer are ‘gene-centric’ in that they consider only somatic variants within a particular gene and make no comparison to other similar genes in the same family that may play a similar role in cancer.

Results reveal a vast landscape of somatic variants that act at the level of domain families altering pathways known to be involved with cancer such as protein phosphorylation, signaling, gene regulation, and cell metabolism. doi : 10.1371/journal.pcbi.1005428

See also

- gene variants
- sequence variants

Open References

- Oncodomains: A protein domain-centric framework for analyzing rare variants in tumor samples. 2017. doi : 10.1371/journal.pcbi.1005428