In this week's Nature Genetics, a team led by Dana-Farber Cancer Institute scientists report on the use of a novel method, dubbed STAR-FISH, to detect single-nucleotide and copy-number alterations in single cells in archived tissue, establishing a new tool for cancer genomics research. Using the method, the group determined that two genetic events, PIK3CA mutation and HER2 amplification, do not always occur in the same cells in HER2-positive breast cancer cell lines, suggesting that chemotherapy before HER2-targeted therapy may promote treatment resistance.
Also in Nature Genetics, a group of French researchers describes the identification of genes implicated in nonsyndromic mitral valve prolapse (MVP), a degenerative cardiac valvulopathy with no known cause that is linked to a number of serious heart conditions. By performing a meta-analysis of two genome-wide association studies in about 1,400 MVP patients and 2,400 controls, the team was able to identify six loci and provide functional evidence for several genes.