A new study shows that mutations in the DIS3L2 gene cause Perlman syndrome – which is associated with Wilms tumor risk
Mutations in the DIS3L2 Gene Cause Perlman Syndrome: Another Key Clue in Unraveling the Puzzle of Wilms Tumor Development
Posted on February 7, 2012 Written by Leave a Comment
Childhood Cancer and Birth Defects
Posted on January 5, 2008 Written by 1 Comment
It is now well known that certain clinical genetic syndromes recognized in childhood are associated with an increased risk of cancer development. For example, in the Gorlin syndrome (also known as Nevoid Basal Cell Carcinoma Syndrome), which may affect ~1 in 40,000 individuals, a mutation in the PTCH gene leads to a number of unusual features including multiple jaw cysts, a very large head circumference, and prominent foreheads in addition to skeletal (bifid ribs and wedge-shaped vertebrae) and other anomalies.