Human Somatic Variation: It’s Not Just for Cancer Anymore

Abstract

It has long been known that cancer is caused by somatic changes. However, increasingly data are being collected that indicate that many other diseases can be caused by somatic mutation. This list is growing, as more and better data become available from high-throughput genetic analyses, to include neurological, hematological, and immune-related disorders. However, equally interest-ing is the observation that even in the absence of clear phenotypic effects individuals accumulate somatic varia-tion and that this variation includes the entire spectrum of mutations observed in the germline. Of note, in some cases (e.g., mitochondrial DNA heteroplasmy) the tissue distri-bution of this variation may not be random. In this review we present recent work describing the effects of somatic mutations, their types, and their distribution in humans.