Missense SNP rs3731249 Explains the CDKN2AAssociation with Childhood ALL and Shows Risk Allele Selection in Tumors with Somatic CDKN2AAlterations

Little is known about the interaction between constitutive and somatic genetic variation in carcinogenesis. Genome-wide association studies (GWAS) of childhood acute lymphoblastic leukemia (ALL) have identified 6 genetic associations, including the single nucleotide polymorphism (SNP) rs3731217, located between the CDKN2Aand CDKN2Bgenes. Somatic deletions of this chromosome 9p21.3 region are common in cancer, and occur in ~30% of childhood ALL.