Study author Kenneth Offit, MD, MPH, Chief of the Clinical Genetics Service at Memorial Sloan-Kettering Cancer Center, said that at the very least the discovery gives us a new window into inherited causes of childhood leukemia.
Offit said that more immediately, testing for this mutation may allow affected families to prevent leukemia in future generations.
The mutation was first observed in a family treated at Memorial Sloan-Kettering of which several family members of different generations had been diagnosed with childhood acute lymphoblastic leukemia (ALL).
A second, non-related, leukemia-prone family cared for at a different hospital was later found to have the same mutation. A series of experiments were conducted confirming that the observed mutation compromised the normal function of the gene, which may increase the risk of developing ALL.
The inherited genetic mutation is located in a gene called PAX5, which is known to play a role in the development of some B cell cancers, including ALL.
The findings have been published in the journal Nature Genetics.
--ANI (Posted on 09-09-2013)