Epigenetic Drivers of Somatic Mutations in Cancer

April 1, 2015
Epigenetic Drivers of Somatic Mutations in Cancer
With next-generation sequencing, it is possible to distinguish between inherited and de novo mutations. What's more, it is possible to distinguish between de novo mutations that drive cancer and those that are "along for the ride." [iStock/© royaltystockphoto]

Jeffrey S. Buguliskis, Ph.D.

Conventional wisdom has steered scientists for many years toward the assumption that disease-triggering genetic mutations were inherited by offspring from existing mutations within parental DNA, and that these mutations reside within all somatic cells, eventually emerging due to some perturbation of the cellular environment. However, over the past several years experimental and genomic data has shown that many of the mutations that lead to carcinogenesis originate somatically, i.e., de novo  mutations generated in offspring that are undetectable in either parent.

While inherited (germline) mutations are ascribable, since they follow familial genetic patterns, the underlying causes and traceability of somatic mutations has been problematic for many years. However, due to the increased accessibility and cost effectiveness of next-generation sequencing (NGS) techniques such as whole- genome sequencing (WGS) and whole-exome sequencing (WES), researchers have been able to readily identify somatic mutations and begin to categorize them based on the nature of the mutation, as well as the tissue from where it was derived.

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