New Computer Program Can Help Uncover Hidden Genomic Alterations that Drive Cancers

Cancer is rarely the result of a single mutation in a single gene. Rather, tumors arise from the complex interplay between any number of mutually exclusive abnormal changes in the genome, the combinations of which can be unique to each individual patient. To better characterize the functional context of genomic variations in cancer, researchers at University of California San Diego School of Medicine and the Broad Institute developed a new computer algorithm they call REVEALER.

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Subclonal evolution involving SF3B1 mutations in chronic lymphocytic leukemia

In this report, Dr. Schwaederlé and other research associates at the UC San Diego BCRF lab investigate the progression of SF3B1 mutations in the CLL B cells over time in an attempt to elucidate whether there exists subclonal evolution involving SF3B1 mutations in CLL. Accumulation of CLL cells harboring mutations in SF3B1 suggests that such subclones have some competitive advantage, which might account for accelerated progression of the disease in some patients over time. Alternatively, subclones of CLL cells might be selected during therapy, similar to what has been observed in mutations involving TP53 in CLL cells of patients treated with standard chemotherapy.

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