[HTML][HTML] Prevalence and functional consequence of TP53 mutations in pediatric adrenocortical carcinoma: a children's oncology group study
JD Wasserman, A Novokmet… - Journal of Clinical …, 2015 - ncbi.nlm.nih.gov
JD Wasserman, A Novokmet, C Eichler-Jonsson, RC Ribeiro, C Rodriguez-Galindo…
Journal of Clinical Oncology, 2015•ncbi.nlm.nih.govPurpose Adrenocortical carcinoma (ACC) is a rare pediatric malignancy. It occurs in excess
among individuals with the Li-Fraumeni syndrome, which results primarily from germline
mutations in the TP53 gene. Prior series exploring frequencies of germline TP53 mutation
among children with ACC have been small, geographically limited, or subject to referral
bias. The functional consequence of mutations has not been related to phenotype. We
provide a genotype-phenotype analysis of TP53 mutations in pediatric ACC and propose a …
among individuals with the Li-Fraumeni syndrome, which results primarily from germline
mutations in the TP53 gene. Prior series exploring frequencies of germline TP53 mutation
among children with ACC have been small, geographically limited, or subject to referral
bias. The functional consequence of mutations has not been related to phenotype. We
provide a genotype-phenotype analysis of TP53 mutations in pediatric ACC and propose a …
Abstract
Purpose
Adrenocortical carcinoma (ACC) is a rare pediatric malignancy. It occurs in excess among individuals with the Li-Fraumeni syndrome, which results primarily from germline mutations in the TP53 gene. Prior series exploring frequencies of germline TP53 mutation among children with ACC have been small, geographically limited, or subject to referral bias. The functional consequence of mutations has not been related to phenotype. We provide a genotype-phenotype analysis of TP53 mutations in pediatric ACC and propose a model for tissue-specific effects based on adrenocortical ontogeny.
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