Recently studies on structural abnormalities of chromosomes (Mosaicism) were conducted by two consortia, one led by scientists at the National Cancer Institute (NCI), and one by Gene Environment Association Studies (GENEVA). This study was sponsored by the National Human Genome Research Institute (NHGRI). These studies have found that mosaicism can be detected in a small fraction of people without a prior history of cancer. Mosaicism results from a DNA alteration that is present in some of the body’s cells but not in others. A person with mosaicism has a mixture of normal and mutated cells. ”These two studies provide large population-based evidence that genetic mosaicism increases with age and could be a risk factor for cancer” which may mean that detection of genetic mosaicism could be an early marker for detecting cancer, or perhaps other chronic diseases,” said Stephen Chanock, M.D., co-author and chief, Laboratory of Translational Genomics, Division of Cancer Epidemiology and Genetics, NCI.
NIH scientists say these findings will have important implications for the design and analysis of molecular studies of cancer, as well as ongoing studies looking at the characterization of cancer genomes, such as NIH’s The Cancer Genome Atlas and the International Cancer Genome Consortium.
NIH scientists recommended that additional analyses be conducted in groups of currently healthy people so that investigators may follow them over time for health outcomes.
The results of the studies were published online May 6, 2012, in Nature Genetics.