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Report for Mutation R337H

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

There is one clinical trial.

Clinical Trials


1 International Pediatric Adrenocortical Tumor Registry

This study aims to collect demographic and medical information including detailed family history of cancer of children and adolescents with adrenocortical tumors in order to learn more about the clinical and epidemiological aspects, treatment modalities, and outcome of patients with this rare disease, worldwide. In addition, investigators at St. Jude Children's Research Hospital (SJCRH) plan to perform molecular studies of tumor cells aimed to clarify the role of the TP53 gene and other genetic pathways in these tumors. They aim to obtain relevant biological material from participants with adrenocortical tumor (ACT), their biological parents, and relatives for determination of the TP53 germline status, molecular studies of the TP53 gene, and other molecular pathways.

NCT00700414 Adrenocortical Tumor
MeSH: Adrenal Cortex Neoplasms
HPO: Neoplasm of the adrenal cortex

Some mutations, as exemplified by the R337H TP53 germline mutation, in which the function of the mutant protein is relatively preserved, the history of cancer in the carriers and their families is relatively unremarkable. --- R337H ---

Primary Outcomes

Measure: Collect demographic/medical information, detailed family history of cancer of children/adolescents with adrenocortical tumors, learn more about the clinical and epidemiological aspects, treatment modalities, and outcome of patients

Time: Annually from diagnosis until no longer being followed, defined as up to 5 years from the date of last follow-up


HPO Nodes


Neoplasm of the adrenal cortex
Genes 33
SCN4A CACNA1S H19-ICR TP53 CDKN2B CDKN1C MDM2 TP53 CDKN2A CYP11B1 APC PTEN IDH1 KCNQ1OT1 H19 IGF2 CDKN2C CYP11B2 KCNQ1 CDKN1B KCNE3 MEN1 CHEK2 CDKN1A TP53 APC TP53 MEN1 PRKAR1A CDKN1B APC APC IDH2