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Report for Mutation G135C

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

There is one clinical trial.

Clinical Trials


1 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

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 ---

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


HPO Nodes


Neoplasm of the pancreas
Genes 105
MGMT BRCA1 MLH1 PMS2 RAD51C TERC CDKN2B PALLD TSC2 CHEK2 SMAD4 NTHL1 RAD51D CTC1 MSH6 NOP10 KRAS NHP2 BAP1 PDGFRB FAN1 KRAS BRD4 RNF43 CDKN2B TP53 MSH2 CDKN2A SPINK1 RTEL1 CDKN2C VHL PIK3CA CDK4 PARN BRCA2 KRAS TERF2IP CHEK2 CDKN1A RPS20 BRCA1 USB1 PRKAR1A POT1 TERT APC CDKN2A CCND1 STK11 TP53 COL14A1 NUTM1 MDM2 TSC1 BRCA2 SLC12A3 EWSR1 CDC73 CDKN1B ACD CDC73 BRIP1 MRE11 GCGR TP53 STK11 EPCAM MEN1 NPM1 WRAP53 TGFBR2 SEMA4A TINF2 MITF BMPR1A TP53 NOTCH3 DKC1 BARD1 AAGAB SMAD4 RAD50 STK11 NBN MLH3 PALB2 PALB2 CDKN2A WT1 BRCA2 MAFA MC1R MEN1 RAD51 CDC73 CLCNKB TP53 CDKN1B FLI1 PTEN PMS1 CDKN2A TERT APC