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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

HP:0009726: Renal neoplasm
Genes 180
FLCN WT1 PIK3CA CDC73 CEP57 MLH1 PTPRJ MINPP1 HNF1B KLLN WT1 TSC2 KLLN OGG1 FH KEAP1 DCC DLST SDHB REST SDHAF2 GPC4 VHL WT1 TSC1 STK11 IFNG TBX18 BMPER NF1 GPC3 MCC DIS3L2 MAP3K1 FGFR3 SDHB ZFPM2 WWOX CDC73 H19 AURKA VHL HNF4A VAMP7 IGF2 CDKN1B PALB2 TSC1 NSD1 PTCH1 DLC1 TP53 DIS3L2 IGF2 HABP2 REST FH DHX37 MLH3 AKT1 SDHD GPC3 TRIP13 MSH2 TRIP13 DIS3L2 FLCN PAX6 SDHC FH PIK3CA HNF1B TSC2 FLCN CDKN1B LMNA GPC4 SOX9 TRIP13 LMNA SEC23B BRCA2 FIBP WT1 TMEM127 BUB1B VHL TRIM37 FN1 SETBP1 PTPN12 FOXE1 AAGAB MDH2 AKT1 H19-ICR PLA2G2A PIK3CA PHF21A COL14A1 CCND1 TP53 BUB1B NR5A1 DICER1 EP300 EXT2 GPC4 WT1 WRN BRCA2 TSC1 SRY KCNQ1OT1 RAD54B H19 SDHB HNF1A RNF139 SDHA BAP1 MSH6 WT1 POU6F2 BUB3 IGF2 NOD2 MAX GPC3 CTNNB1 NR0B1 BUB1 DMRT3 KIF1B BUB1 H19-ICR CDKN1C PDGFRL POU6F2 USF3 PTEN AXIN2 KCNQ1OT1 RET H19 TFE3 MET MITF NRAS SDHC SLC25A11 VHL HDAC4 FIBP PIK3CA TLR2 TRIM28 DICER1 KCNQ1 WT1 DICER1 CDC73 WT1 WT1 IGF2 CCND1 GATA4 H19-ICR ODC1 BUB1B ALX4 TSC2 TRIM28 BAX SRC APC FLCN GPC3 PRCC SDHD
Protein Mutations 7
A133S F31I P13K S131F V57I V600E V617F
SNP 1
rs11568821
HP:0002667: Nephroblastoma
Genes 80
H19-ICR WT1 PIK3CA PHF21A CDC73 CEP57 WT1 NR5A1 DICER1 REST EXT2 GPC4 GPC4 WT1 WT1 BRCA2 SRY KCNQ1OT1 H19 GPC3 DIS3L2 MAP3K1 WT1 POU6F2 BUB3 ZFPM2 IGF2 WWOX CDC73 GPC3 H19 NR0B1 DMRT3 BUB1 H19-ICR CDKN1C POU6F2 VAMP7 IGF2 PALB2 KCNQ1OT1 NSD1 PTCH1 H19 TP53 DIS3L2 IGF2 HDAC4 REST FIBP PIK3CA TRIM28 DHX37 KCNQ1 WT1 GPC3 TRIP13 DICER1 CDC73 WT1 WT1 TRIP13 DIS3L2 IGF2 GATA4 H19-ICR PAX6 BUB1B ALX4 GPC4 SOX9 TRIM28 TRIP13 BRCA2 FIBP WT1 GPC3 BUB1B TRIM37 SETBP1
Protein Mutations 3
A133S F1174L S131F
SNP 0