Monday, April 6, 2015

Scientists Discover a Heritable Leukemia Mutation



A study conducted by The University of Colorado Cancer Centre discovered a mutation on the ETV6 gene that causes Acute Lymphoblastic Leukemia (ALL). This was found by investigating the genome of a family with abnormally high rates of ALL.The family had similar traits of big red blood cells, low platelet counts and a tendency to bleed. This observation showed that there must be some genetic linkage that runs in the family. When comparing their high risk genome to a “healthy” family, a mutation in the ETV6 gene was the key difference.

ALL is one type of leukemia, which is a blood cancer. Development begins in the white blood cells called lymphocytes in the bone marrow. From the bone marrow it spreads quickly to the blood and other systems. If not treated it is usually fatal in a few months. Children are born with this “broken” gene that causes them to develop these leukemia causing white blood cells at a young age. Most of the 30,000 ALL cases in the US each year are in children ages 2-5. With this new genetic discovery, families that have a history of leukemia can now be tested to see their risk of passing on this gene to offspring.

This is a great genetic discovery that will hopefully lead to a cure of ALL. Identifying the cause will give families a chance to prevent passing this mutation on to their children or give those who already have the disease a fighting chance to beat this childhood cancer. 

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