Walsh,K (2015) Cancer Research (Link to abstract)
There is an increased interest in heritable genetic variants and their association with cancer. Recent GWAS studies identified SNPs that modify ALL risk; in this study, the authors identify a CDKN2A missense variant that confers 3-fold increase in ALL risk in children of different ethnic backgrounds. The risk was even higher for CDKN2A-deleted ALL. Their findings show that leukemia cells preferentially retain the germline heritable genetic variation, suggesting that it confers a growth advantage. Further somatic loss of the protective CDKN2A allele is commonly observed, demonstrating a direct interaction between heritable and somatic genetic variation in CDKN2A in leukemogenesis.
* This is supportive evidence that there are hereditable genetic changes that raise the risk for developing ALL – another puzzle piece when trying to understand the etiology of this disease. Heritable and somatic alterations in CDKN2A are important for ALL etiology and progression.