SNPMiner Trials by Shray Alag


SNPMiner SNPMiner Trials (Home Page)


Report for Clinical Trial NCT00588263

Developed by Shray Alag, 2020.
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: Gallbladder Neoplasms Bile Duct Neoplasms Cholangiocarcinoma Uterine Neoplasms
HPO: Cholangiocarcinoma Neoplasm of the gallbladder 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 TCF4 GPR35
Neoplasm of the gallbladder
Genes 5
PSAP MST1 TCF4 ARSA GPR35
Uterine neoplasm
Genes 58
POLE FLCN AKT1 SDHC MSH6 CDC73 CXCR4 NAB2 NRAS MSH3 CDKN1B SRC CDH1 FH APC GREM1 NTHL1 STAT6 STK11 DCC KLLN MSH2 TP53 SDHD SEC23B PTEN SEMA4A POLD1 PIK3CA CTNNB1 MSH3 POLD1 BMPR1A BUB1 SRY DLC1 STK11 HMGA2 MSH6 BMPR1A PIK3CA FGFR3 PTEN MSH6 PMS2 EP300 SDHB BUB1B AXIN2 FH RPS20 CDC73 PTPRJ PRKAR1A FLI1 MLH1 MLH3 AKT1