Ontology highlight
ABSTRACT:
SUBMITTER: Diskin SJ
PROVIDER: S-EPMC3982892 | biostudies-literature | 2014 Apr
REPOSITORIES: biostudies-literature
Diskin Sharon J SJ Capasso Mario M Diamond Maura M Oldridge Derek A DA Conkrite Karina K Bosse Kristopher R KR Russell Mike R MR Iolascon Achille A Hakonarson Hakon H Devoto Marcella M Maris John M JM
Journal of the National Cancer Institute 20140314 4
TP53 is the most frequently mutated gene in human malignancies; however, de novo somatic mutations in childhood embryonal cancers such as neuroblastoma are rare. We report on the analysis of three independent case-control cohorts comprising 10290 individuals and demonstrate that rs78378222 and rs35850753, rare germline variants in linkage disequilibrium that map to the 3' untranslated region (UTR) of TP53 and 5' UTR of the Δ133 isoform of TP53, respectively, are robustly associated with neurobla ...[more]