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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


Renal neoplasm
Genes 167
GPC3 REST GPC3 TSC2 VAMP7 TRIP13 HNF1B BUB1B KCNQ1OT1 SOX9 FLCN SDHC TRIM37 SDHAF2 LMNA EXT2 GATA4 TSC2 BRCA2 SRC BUB1 FH APC SLC49A4 SDHB WT1 HDAC4 SLC25A11 SDHD BAP1 ALX4 SRY VHL KLLN CTNNB1 NR5A1 KEAP1 DICER1 DIS3L2 WT1 FIBP DLC1 FN1 PIK3CA NOD2 SDHC FGFR3 VHL MAP3K1 EP300 FOXE1 WT1 AXIN2 MITF PAX6 SDHD IFNG NSD1 TBX18 H19 H19 TRIM28 MDH2 PTCH1 GPC4 MLH1 POU6F2 AKT1 WT1 CCND1 ZFPM2 H19-ICR TP53 TRIP13 GPC4 COL14A1 TRIM28 VHL WT1 MET TSC1 TRIP13 AKT1 MSH6 POU6F2 HABP2 CDC73 H19 KCNQ1OT1 H19 IGF2 NRAS BUB1B KCNQ1 FLCN CDKN1B DIS3L2 CDC73 REST PRCC IGF2 CDKN1B STK11 WT1 WT1 NR0B1 BUB3 DCC WT1 TSC1 KLLN MSH2 HNF1B TSC2 TP53 SEC23B GPC3 PTEN HNF1A KIF1B MAX DICER1 PIK3CA PIK3CA DIS3L2 RNF139 MINPP1 DMRT3 BRCA2 BUB1 RET CDKN1C AAGAB TSC1 WT1 FH GPC3 WRN PIK3CA TMEM127 VHL IGF2 FLCN H19 OGG1 SETBP1 SDHB BUB1B SDHA IGF2 CEP57 TFE3 FH CDC73 GPC4 DICER1 PTPRJ LMNA HNF4A DLST H19 SDHB BMPER PALB2 FLCN PHF21A WWOX
Nephroblastoma
Genes 79
GPC3 REST GPC3 WT1 VAMP7 ZFPM2 H19-ICR TP53 TRIP13 GPC4 TRIM28 TRIP13 WT1 BUB1B KCNQ1OT1 SOX9 TRIP13 TRIM37 POU6F2 CDC73 H19 KCNQ1OT1 H19 IGF2 EXT2 GATA4 BUB1B KCNQ1 BRCA2 BUB1 DIS3L2 CDC73 REST IGF2 WT1 WT1 NR0B1 BUB3 WT1 WT1 HDAC4 GPC3 DICER1 ALX4 SRY PIK3CA DIS3L2 DMRT3 BRCA2 NR5A1 CDKN1C DIS3L2 WT1 FIBP WT1 GPC3 PIK3CA IGF2 MAP3K1 H19 SETBP1 WT1 IGF2 PAX6 CEP57 CDC73 GPC4 DICER1 NSD1 H19 H19 H19 TRIM28 PTCH1 PALB2 GPC4 POU6F2 PHF21A WWOX