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Down syndrome: Behind the scenes of genetics, leukemia

Date:
August 8, 2014
Source:
Université de Genève
Summary:
A group of geneticists have 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, a type of cancer relative to the cells of the immune system in the bone marrow.

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 Leukemia (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.


Story Source:

The above story is based on materials provided by Université de Genève. Note: Materials may be edited for content and length.


Journal Reference:

  1. Sergey I. Nikolaev, Marco Garieri, Federico Santoni, Emilie Falconnet, Pascale Ribaux, Michel Guipponi, Aoife Murray, Jürgen Groet, Emanuela Giarin, Giuseppe Basso, Dean Nizetic, Stylianos E. Antonarakis. Frequent cases of RAS-mutated Down syndrome acute lymphoblastic leukaemia lack JAK2 mutations. Nature Communications, 2014; 5 DOI: 10.1038/ncomms5654

Cite This Page:

Université de Genève. "Down syndrome: Behind the scenes of genetics, leukemia." ScienceDaily. ScienceDaily, 8 August 2014. <www.sciencedaily.com/releases/2014/08/140808111735.htm>.
Université de Genève. (2014, August 8). Down syndrome: Behind the scenes of genetics, leukemia. ScienceDaily. Retrieved October 2, 2014 from www.sciencedaily.com/releases/2014/08/140808111735.htm
Université de Genève. "Down syndrome: Behind the scenes of genetics, leukemia." ScienceDaily. www.sciencedaily.com/releases/2014/08/140808111735.htm (accessed October 2, 2014).

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