Locating Structural Mutations in Genes

Locating Structural Mutations in Genes

In the June 6 issue of NatureMethods, Alexander Maslov, Ph.D., and Jan Vijg, Ph.D., described the first assay for detecting and quantifying genomic mutations known as somatic structural variants (somSVs) in normal cells. They include large deletions, inversions and translocations of DNA sequences that are known to cause cancers and aging. Dr. Maslov’s Structural Variant Search (SVS) technique allows for genomic structural mutations to be detected in non-cancerous cells and tissues. The search technique can be used to test whether certain chemicals cause somSVs, to check if people have been exposed to radiation and are at risk for disease and to assess whether somSVs are responsible for the higher breast cancer risk in women who have BRCA 1/2 mutations. Dr. Maslov is research assistant professor of genetics and Dr. Vijg is professor chair of genetics.