SNPMiner Trials by Shray Alag


SNPMiner Trials: Clinical Trial Report


Report for Clinical Trial NCT00088803

Developed by Shray Alag, 2019.
SNP Clinical Trial Gene

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
MeSH: Kidney Neoplasms Carcinoma, Renal Cell Wilms Tumor
HPO: Clear cell renal cell carcinoma Nephroblastoma Papillary renal cell carcinoma Renal cell carcinoma Renal neoplasm

3 Interventions

Name: molecular genetic technique

Type: Genetic

Name: polymerase chain reaction

Type: Genetic

Name: polymorphism analysis

Type: Genetic


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

Time Perspective: Prospective

Case Control


There are 2 SNPs

SNPs


1 A133S

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 Carcinoma, Renal Cell 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 ---


2 S131F

Whether the S131F RASSF1A variant is a true polymorphism. --- S131F ---

- Determine whether the S131F RASSF1A variant is a true polymorphism in these patients. --- S131F ---



HPO Nodes


HPO:
Clear cell renal cell carcinoma
Genes 1
NOD2
Nephroblastoma
Genes 44
GATA4 WT1 CDKN1C NSD1 FIBP SOX9 KCNQ1 H19-ICR SRY POU6F2 EXT2 NR5A1 PAX6 CDC73 IGF2 REST DIS3L2 DMRT3 WWOX HDAC4 GPC3 PTCH1 BUB3 BRCA2 CEP57 TRIP13 KCNQ1OT1 PIK3CA TRIM28 DICER1 TRIM37 ALX4 PALB2 H19 PHF21A TP53 MAP3K1 ZFPM2 SETBP1 BUB1 BUB1B VAMP7 NR0B1 GPC4
Papillary renal cell carcinoma
Genes 8
FOXE1 LMNA HABP2 CDC73 MET MINPP1 PRCC FH
Renal cell carcinoma
Genes 52
FOXE1 VHL MET STK11 HNF1A HNF1B KLLN DLC1 NRAS FN1 LMNA SDHAF2 PIK3CA PRCC MAX KIF1B SRC SLC49A4 BUB1B APC FLCN COL14A1 AKT1 TSC1 TSC2 HABP2 FGFR3 CDC73 KEAP1 MINPP1 CTNNB1 RET DCC FH MDH2 PTEN RNF139 HNF4A AAGAB TMEM127 OGG1 DICER1 EP300 SEC23B SDHA SDHB TFE3 SDHC SDHD AXIN2 BAP1 NOD2
Renal neoplasm
Genes 99
FOXE1 CDKN1B CDKN1C VHL SOX9 H19-ICR HNF1A HNF1B POU6F2 DIS3L2 WWOX NRAS HDAC4 FN1 MAX KIF1B SRC WRN GATA4 WT1 APC NSD1 SRY TSC1 TSC2 EXT2 MSH2 KEAP1 MINPP1 REST RET DCC MDH2 PTCH1 PTEN HNF4A AAGAB TMEM127 TRIP13 OGG1 DICER1 ALX4 PALB2 PHF21A MAP3K1 TFE3 ZFPM2 AXIN2 BAP1 NOD2 TBX18 MET STK11 MSH6 KLLN IGF2 DLC1 DMRT3 GPC3 LMNA BRCA2 SDHAF2 PIK3CA PRCC TRIM28 SETBP1 BUB1 SLC49A4 BUB1B VAMP7 NR0B1 GPC4 MLH1 FIBP KCNQ1 FLCN COL14A1 AKT1 HABP2 NR5A1 FGFR3 PAX6 CDC73 BMPER CTNNB1 FH BUB3 RNF139 CEP57 KCNQ1OT1 TRIM37 EP300 SEC23B H19 SDHA TP53 SDHB SDHC SDHD