Predisposition Gene For Childhood Cancer

Neuroblastoma - a cancer of the nervous system - accounts for 15% of childhood cancer deaths and has bleak survival probabilities of less than 40%. There is a strong familial association and it was predicted over 30 years ago that there was a genetic element to the disease. John Maris and colleagues screened the genomes of 20 affected families, looking for single letter changes in the DNA code or SNPs. They identified inherited mutations in the gene encoding ALK, a tyrosine kinase receptor, as being responsible for causing the disease in the majority of families. Point mutations in this gene were also found in sporadic cases of neuroblastoma. The mutations mapped to a part of the receptor that cause it to be constantly active in promoting cell proliferation, explaining its ability to drive cancer.

The research opens the door for a long-sought-after molecular diagnostic test for predisposition to neuroblastoma, as well as identifying ALK as a promising drug target.

Author contact:

John Maris (The University of Pennsylvania School of Medicine, Philadelphia, PA, USA)
E-mail: maris@chop.edu

Abstract available online.

(C) Nature press release.

Message posted by: Trevor M. D'Souza