SNPMiner Trials by Shray Alag


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Report for Mutation A636P

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

There are 3 clinical trials

Clinical Trials


1 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

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 ---

Primary Outcomes

Measure: determine the prevalence of recurring BRCA1 and BRCA2 mutations

Time: 5 years

2 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 ---

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

3 Cascade Testing in Families With Newly Diagnosed Hereditary Breast and Ovarian Cancer Syndrome

Identification of BRCA mutations in ovarian cancer patients may help guide cancer therapies, prognosis, post-operative screening, and other preventative treatments beyond the initial diagnosis. Likewise, genetic testing of ovarian cancer patients for these germline mutations provides invaluable information for families regarding cancer risk, genetic testing, and subsequently indication for risk-reducing surgery. Cascade testing provides a unique opportunity to identify carriers of a deleterious BRCA mutation which can allow for surgical and chemoprevention of prevention of ovarian cancer. There is currently no literature on the rates of referral for the family members.

NCT04009148 BRCA-Mutated Ovarian Carcinoma BRIP1 Gene Mutation MSH2 A636P MLH1 Gene Mutation MSH6 Gene Mutation PMS2 Gene Mutation EPCAM RAD51C Gene Mutation Other: CASCADE genetic screening
MeSH: Hereditary Breast and Ovarian Cancer Syndrome

BRCA-Mutated Ovarian Carcinoma BRIP1 Gene Mutation MSH2 A636P MLH1 Gene Mutation MSH6 Gene Mutation PMS2 Gene Mutation EPCAM RAD51C Gene Mutation Hereditary Breast and Ovarian Cancer Syndrome The objective of this study is to perform a pilot study, offering referral to a genetic counseling and genetic testing for family members of a probands known to have a mutation in BRCA1 or BRCA2. --- A636P ---

Primary Outcomes

Description: Number of relatives with successful cascade testing

Measure: Establishing the CASCADE Cohort

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
Neoplasm of the gallbladder
Genes 5
PSAP MST1 TCF4 ARSA GPR35
Cholangiocarcinoma
Genes 3
MST1 TCF4 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