![]() About half of the multiple myeloma samples sequenced had defects in one or more of these genes, including FAM46C, which had never before been linked to cancer. In addition, mutations were found in genes that are involved in two cellular processes in normal cell function: RNA processing and protein folding. The study, published last year in the journal Nature, 1 found that 11 different genes involved in the NF-kappaB pathway were altered in at least one tumor sample. Although researchers had suspected that this pathway was involved in the development of the disease, they did not understand the chain of events that turned the pathway on. Golub and co-investigators at the Broad Institute and Dana-Farber Cancer Institute, Boston, found mutations in the nuclear factor (NF)-kappaB pathway, an important transcriptional regulator in multiple myeloma. Dana Investigator in Human Cancer Genetics at Dana-Farber Cancer Institute, is a coauthor of the first large-scale study to compare the entire genomes of malignant cells and normal cells from 38 patients with multiple myeloma. ![]() Golub, MD, Director of the Cancer Program at the Broad Institute, Charles A. ![]() And the results are revealing genes that had not previously been associated with cancer as well as multiple genetic mutations that disrupt common pathways and trigger cancer-related changes in a cell. We learned from this study how to start thinking about the complex analysis of not just seeing that a mutation exists in a tumor but learning to recognize whether a given mutation is likely to be important.Īdvances in next-generation DNA sequencing technologies are allowing scientists to decipher the whole genome or whole exome (ie, the coding region of the genome) of cancer specimens more quickly and inexpensively than ever before.
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