SNPMiner Trials by Shray Alag

SNPMiner SNPMiner Trials (Home Page)

Report for Mutation S131F

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

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

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

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

HP:0009726: Renal neoplasm
Genes 169
POU6F2 MAP3K1 CCND1 VHL WT1 VHL GPC4 KCNQ1OT1 SDHB FOXE1 SLC25A11 FLCN SDHB SOX9 PIK3CA LMNA SDHAF2 GATA4 CCND1 TRIP13 ALX4 DIS3L2 PIK3CA APC STK11 EXT2 H19 VHL SDHD TSC2 AKT1 TSC2 FIBP BAP1 BUB1 NR5A1 WT1 FN1 SRY CTNNB1 TRIM28 SETBP1 KIF1B CDC73 FH DLC1 PIK3CA FGFR3 VAMP7 MDH2 FH HNF4A GPC4 TRIP13 EP300 WT1 TP53 FH WT1 DICER1 PRCC DMRT3 TRIM28 REST PTEN TP53 KEAP1 COL14A1 PTCH1 WT1 GPC3 MET CDKN1B AXIN2 HDAC4 CDKN1C TRIM37 HABP2 PAX6 SDHB GPC3 USF3 NOD2 LMNA AKT1 SDHC BUB3 H19-ICR WT1 BUB1B KCNQ1OT1 SEC23B WWOX NRAS H19 IGF2 AAGAB IGF2 DIS3L2 CDC73 CDC73 MAX PIK3CA H19 WT1 BRCA2 CDKN1B PHF21A MLH1 KLLN BMPER VHL GPC3 BUB1B DCC MSH6 HNF1A REST BUB1B DLST IFNG IGF2 WT1 OGG1 WRN NSD1 FLCN H19 DICER1 GPC3 TMEM127 SRC CEP57 GPC4 DIS3L2 SDHD MINPP1 RET SDHA KLLN TSC2 HNF1B H19 TRIP13 BRCA2 NR0B1 FLCN PALB2 MITF TSC1 TBX18 FIBP BUB1 MSH2 TFE3 KCNQ1 WT1 H19 TSC1 PTPRJ SDHC IGF2 HNF1B DICER1 FLCN POU6F2 TSC1 ZFPM2 RNF139
Protein Mutations 7
A133S F31I P13K S131F V57I V600E V617F
SNP 1
rs11568821
HP:0002667: Nephroblastoma
Genes 80
POU6F2 MAP3K1 HDAC4 CDKN1C WT1 TRIM37 GPC4 PAX6 KCNQ1OT1 GPC3 SOX9 BUB3 H19-ICR WT1 BUB1B KCNQ1OT1 WWOX H19 IGF2 GATA4 TRIP13 IGF2 DIS3L2 ALX4 DIS3L2 CDC73 PIK3CA CDC73 PIK3CA H19 EXT2 H19 WT1 BRCA2 PHF21A GPC3 BUB1B FIBP REST BUB1 NR5A1 WT1 IGF2 WT1 NSD1 SRY TRIM28 H19 DICER1 GPC3 SETBP1 CEP57 CDC73 GPC4 DIS3L2 VAMP7 H19 TRIP13 GPC4 TRIP13 BRCA2 NR0B1 PALB2 FIBP WT1 WT1 KCNQ1 WT1 DMRT3 TRIM28 REST H19 IGF2 TP53 DICER1 POU6F2 PTCH1 WT1 GPC3 ZFPM2
Protein Mutations 2
A133S S131F
SNP 0