SNPMiner Trials by Shray Alag


SNPMiner Trials: Clinical Trial Report


Report for Clinical Trial NCT01102569

Developed by Shray Alag, 2019.
SNP Clinical Trial Gene

Molecular Genetics and Epidemiology of Pancreatic Cancer in Ashkenazi Jewish Patients

The aim of this study is to determine the frequency of the three most common BRCA1 and BRCA2 genetic mutations that are commonly found in Ashkenazi Jewish patients with pancreatic cancer. Testing for BRCA1 and BRCA2 mutations in relatives of hereditary pancreatic cancer patients may have a significant impact; allowing for early screening, treatment, and resection of pre-malignant tissue or malignant lesions.

NCT01102569 Pancreatic Cancer
MeSH: Pancreatic Neoplasms
HPO: Neoplasm of the pancreas


Primary Outcomes

Description: The primary aim of this study is to determine the combined frequency of BRCA1 (185delAG, 5382insC) and BRCA2(6174delT) mutations in Ashkenazi Jewish pancreatic cancer patients.

Measure: Frequency of Three BRCA1/2 Mutations in Ashkenazi Jewish Patients

Time: 1 year

Secondary Outcomes

Description: Individual frequency of these mutations three mutations BRCA1 (185delAG, 5382insC) and BRCA2 (6174delT) mutations.

Measure: Individual Frequency of Three Mutations

Time: 1 year

Description: Determine the frequency of disease modifying mutations such as MSH2 A636P, APC I1307K, P53, R72P, CHEK2 S428F, RAD51 G135C and MTHFR V222A.

Measure: Frequency of disease modifying mutations

Time: 1 year

Time Perspective: Prospective

Cohort


There are 6 SNPs

SNPs


1 A636P

Determine the frequency of disease modifying mutations such as MSH2 A636P, APC I1307K, P53, R72P, CHEK2 S428F, RAD51 G135C and MTHFR V222A.. Inclusion Criteria: - Patients diagnosed with pancreatic cancer. --- A636P ---


2 G135C

Determine the frequency of disease modifying mutations such as MSH2 A636P, APC I1307K, P53, R72P, CHEK2 S428F, RAD51 G135C and MTHFR V222A.. Inclusion Criteria: - Patients diagnosed with pancreatic cancer. --- A636P --- --- I1307K --- --- R72P --- --- S428F --- --- G135C ---


3 I1307K

Determine the frequency of disease modifying mutations such as MSH2 A636P, APC I1307K, P53, R72P, CHEK2 S428F, RAD51 G135C and MTHFR V222A.. Inclusion Criteria: - Patients diagnosed with pancreatic cancer. --- A636P --- --- I1307K ---


4 R72P

Determine the frequency of disease modifying mutations such as MSH2 A636P, APC I1307K, P53, R72P, CHEK2 S428F, RAD51 G135C and MTHFR V222A.. Inclusion Criteria: - Patients diagnosed with pancreatic cancer. --- A636P --- --- I1307K --- --- R72P ---


5 S428F

Determine the frequency of disease modifying mutations such as MSH2 A636P, APC I1307K, P53, R72P, CHEK2 S428F, RAD51 G135C and MTHFR V222A.. Inclusion Criteria: - Patients diagnosed with pancreatic cancer. --- A636P --- --- I1307K --- --- R72P --- --- S428F ---


6 V222A

Determine the frequency of disease modifying mutations such as MSH2 A636P, APC I1307K, P53, R72P, CHEK2 S428F, RAD51 G135C and MTHFR V222A.. Inclusion Criteria: - Patients diagnosed with pancreatic cancer. --- A636P --- --- I1307K --- --- R72P --- --- S428F --- --- G135C --- --- V222A ---



HPO Nodes


HPO:
Neoplasm of the pancreas
Genes 80
RAD51 RAD51C CDKN1A PMS1 CDKN1B RAD51D VHL CDKN2A NUTM1 KRAS CDKN2B CDKN2C CDKN2D TGFBR2 FLI1 MRE11 STK11 MSH6 BMPR1A PMS2 MLH3 BRIP1 MGMT SLC12A3 BRCA1 ACD SPINK1 BRCA2 USB1 CLCNKB TINF2 RTEL1 PDGFRB CTC1 PIK3CA NTHL1 BRD4 POT1 MAFA MC1R MITF CHEK2 WT1 APC BARD1 MLH1 PRKAR1A DKC1 NBN COL14A1 RPS20 TSC1 PARN NOP10 TSC2 EWSR1 GCGR MSH2 CDC73 SEMA4A WRAP53 PTEN MDM2 NHP2 TERC AAGAB TERT EPCAM RNF43 PALLD PALB2 TERF2IP TP53 NOTCH3 SMAD4 BAP1 CDK4 MEN1 FAN1 RAD50