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Article

Rare variants in TP53 and susceptibility to neuroblastoma.

Journal of the National Cancer Institute - 1 Apr 2014

Diskin Sharon J, Capasso Mario, Diamond Maura, Oldridge Derek A, Conkrite Karina, Bosse Kristopher R, Russell Mike R, Iolascon Achille, Hakonarson Hakon, Devoto Marcella, Maris John M

Abstract excerpt

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'...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to TP53 gene
Share to Genetic Predisposition to Disease
Share to Germ-Line Mutation
Share to Linkage Disequilibrium
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Share to Neuroblastoma Research and Treatments
Share to Polymorphism, Single Nucleotide
Share to Tumor Suppressor Protein p53

Source

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Identifiers

PMID: 24634504
DOI: 10.1093/jnci/dju047
PMCID: PMC3982892

Genes

TP53

Provenance

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