Linking the genome and the clinic in leukaemia

June 20, 2011 in NEWS by Suzanne Elvidge

Chronic lymphocytic leukaemia (CLL) is one of the most common forms of leukaemia, and some families do show a genetic predisposition to different forms of leukaemia. A team of Spanish researchers have identified recurrent mutations in chronic lymphocytic leukaemia.

DNA helixThe research, published in Nature, looked at the full DNA sequence of cancer cells from four people, and compared them with the DNA sequence of healthy cells from the same people, finding around 1000 genome mutations. The researchers then looked at these sequences in around 300 people, and isolated mutations in four genes that were closely associated with CLL.

According to the researchers, this is the first comprehensive analysis of CLL combining whole-genome sequencing with clinical characteristics and clinical outcomes.