SNPMiner Trials by Shray Alag


SNPMiner Trials: Clinical Trial Report


Report for Clinical Trial NCT00588263

Developed by Shray Alag, 2019.
SNP Clinical Trial Gene

Anonymous Testing of Pathology Specimens for BRCA Mutations in Ashkenazi Jewish Individual With Cancer

The intent of the proposed study is to describe the prevalence of the most common recurring mutations in BRCA1 and BRCA2, blmAsh , and the A636P MSH2 mutation among Ashkenazi Jewish individuals with a variety of cancer diagnoses. If a substantial proportion of these samples contain such mutations, future patients presenting with these diseases may wish to undergo genetic counseling and, if appropriate, formal genetic testing. The benefit from such a process would pertain mainly to the families of these individuals.

NCT00588263 Extrahepatic Bile Duct Cancer Gallbladder Cancer Gastric Cancer Lung Cancer Melanoma Non-Hodgkin's Lymphoma Uterine Cancer CORPUS UTERI,ENDOMETRIUM LUNG OVARY
MeSH: Lymphoma, Non-Hodgkin Gallbladder Neoplasms Bile Duct Neoplasms Cholangiocarcinoma Uterine Neoplasms
HPO: Cholangiocarcinoma Neoplasm of the gallbladder Non-Hodgkin lymphoma Uterine neoplasm


Primary Outcomes

Measure: determine the prevalence of recurring BRCA1 and BRCA2 mutations

Time: 5 years

Time Perspective: Prospective

Cohort


There is one SNP

SNPs


1 A636P

Anonymous Testing of Pathology Specimens for BRCA Mutations in Ashkenazi Jewish Individuals Who Have Cancer The intent of the proposed study is to describe the prevalence of the most common recurring mutations in BRCA1 and BRCA2, blmAsh , and the A636P MSH2 mutation among Ashkenazi Jewish individuals with a variety of cancer diagnoses. --- A636P ---



HPO Nodes


HPO:
Cholangiocarcinoma
Genes 3
MST1 GPR35 TCF4
Neoplasm of the gallbladder
Genes 5
MST1 ARSA GPR35 PSAP TCF4
Non-Hodgkin lymphoma
Genes 22
MYC FAS ADA FASLG IGH KIT BIRC3 CASP10 NBN CD28 MALT1 PRKCD RASGRP1 FOXP1 PIK3R1 NTHL1 POLE CCND1 BCL10 CTLA4 ATM TNFRSF1B
Uterine neoplasm
Genes 41
CDKN1B APC MLH1 PRKAR1A FLCN FLI1 STK11 MSH6 AKT1 RPS20 SRY BMPR1A PMS2 MSH2 KLLN FGFR3 MSH3 CDC73 GREM1 SEMA4A CTNNB1 DLC1 HMGA2 NRAS DCC FH PTEN CDH1 PIK3CA CXCR4 POLD1 EP300 NTHL1 POLE SEC23B SDHB SDHC SDHD AXIN2 SRC BUB1B