Behind the scenes of genetics, leukemia in Down syndrome
Published 2014-08-08 · Original archive entry · Explore research explainers
Children affected by trisomy 21 (or Down syndrome) are 50 to 500 times
more likely to develop leukemia than other children. A group of
geneticists working in the Faculty of Medicine at the University of
Geneva (UNIGE) focused for many years on the genetic characteristics of
Down syndrome. They have sequenced the exome, a specific part of our
genome, in a cohort of patients affected both by Down Syndrome and
Acute Lymphoblastic Leukaemia (DS-ALL), a type of cancer relative to
the cells of the immune system in the bone marrow. They were able to
sketch an outline of the "genetic identity card" of this disease. They
found that RAS, an important oncogene in many cancers, is involved in
the tumorigenesis of one third of DS-ALL cases. This work is being
published in the latest issue of the journal Nature Communications.
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