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Report for Mutation A133S

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

There is one clinical trial.

Clinical Trials


1 The Incidence, Inheritance, and Prognostic Significance of Polymorphisms in the RASSF1A Gene in Children With Wilms Tumors

RATIONALE: Studying samples of blood from patients with cancer in the laboratory may help doctors learn more about changes that may occur in DNA and identify biomarkers related to cancer. PURPOSE: This laboratory study is looking at DNA variations in the RASSF1A gene in young patients with Wilms' tumor.

NCT00088803 Kidney Cancer Genetic: molecular genetic technique Genetic: polymerase chain reaction Genetic: polymorphism analysis
MeSH:Kidney Neoplasms Wilms Tumor
HPO:Nephroblastoma Renal neoplasm

Presence of the A133S polymorphism of the RASSF1A tumor suppressor gene in germline DNAs of children with Wilms' tumor. --- A133S ---

Inheritance pattern of the A133S polymorphism in the parents of children who carry this polymorphism. --- A133S ---

Differences in age at diagnosis, stage, histology, site of primary tumor, and outcome between patients with vs without the A133S polymorphism. --- A133S ---

DISEASE CHARACTERISTICS: - Diagnosis of Wilms' tumor OR - Control participants matched for race, sex, and age - No prior or concurrent history of cancer OR - Parents of children involved in the study PATIENT CHARACTERISTICS: - Not specified PRIOR CONCURRENT THERAPY: - Not specified DISEASE CHARACTERISTICS: - Diagnosis of Wilms' tumor OR - Control participants matched for race, sex, and age - No prior or concurrent history of cancer OR - Parents of children involved in the study PATIENT CHARACTERISTICS: - Not specified PRIOR CONCURRENT THERAPY: - Not specified Kidney Cancer Kidney Neoplasms Wilms Tumor OBJECTIVES: Primary - Determine the presence of the A133S polymorphism in the RASSF1A tumor suppressor gene by screening germline DNAs of children with Wilms' tumor. --- A133S ---

- Determine the inheritance pattern of the A133S polymorphism by evaluating the parents of children who carry this polymorphism. --- A133S ---

Secondary - Determine the differences in age at diagnosis, stage, histology, site of primary tumor, and outcome, between patients with vs without the A133S polymorphism. --- A133S ---

DNA is also analyzed from parents of patients with the A133S polymorphism. --- A133S ---

Primary Outcomes

Measure: Presence of the A133S polymorphism of the RASSF1A tumor suppressor gene in germline DNAs of children with Wilms' tumor

Measure: Inheritance pattern of the A133S polymorphism in the parents of children who carry this polymorphism

Secondary Outcomes

Measure: Differences in age at diagnosis, stage, histology, site of primary tumor, and outcome between patients with vs without the A133S polymorphism

Measure: Whether the S131F RASSF1A variant is a true polymorphism

Measure: Polymorphic differences in this gene based on ethnicity and sex


HPO Nodes