SNPMiner Trials (Home Page)
Report for Mutation I1307K
Developed by Shray Alag, 2020.
SNP Clinical Trial Gene
There are 2 clinical trials
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 ---
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 yearSecondary Outcomes
Description: Individual frequency of these mutations three mutations BRCA1 (185delAG, 5382insC) and BRCA2 (6174delT) mutations.
Measure: Individual Frequency of Three Mutations Time: 1 yearDescription: 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 year2 GENetic Education Risk Assessment and TEsting Study (GENERATE)
The goal of the GENERATE Study is to improve genetic testing and cancer prevention in family members of pancreatic cancer patients who may have genetic mutations (inherited changes). The study will measure how different methods of genetic education increase the rate of genetic testing in these families. This is an investigational study to measure the effects of two methods of genetic education. Participants may elect to undergo genetic testing as part of the study and will be asked to provide a saliva sample via a saliva-testing kit. The genetic testing done in this study is FDA approved and will be processed in a Clinical Laboratory Improvement Amendments (CLIA) certified laboratory. Up to 1,000 participants will be enrolled in this study.
NCT03762590 Candidates for Hereditary Pancreatic Cancer Testing Other: Doxy.me genetic education +/- Color Genomics genetic education Other: Color Genomics genetic education MeSH:Pancreatic Neoplasms
HPO:Neoplasm of the pancreas
leukemia or lymphoma) - Individual who is unable to sign the informed consent because of mental incompetency or psychiatric illness - Individual who is unwilling to complete baseline and follow-up questionnaires - Individual who has a life expectancy of less than 1 year - Individual with only APC I1307K mutation within their family - Individual with only PMS2 exons 12-15 deletion mutation within their family Inclusion Criteria: - Individual who is 18 years or older - Individual who has signed the informed consent - Individual with: --A first-degree relative who has (or had) pancreatic ductal adenocarcinoma (PDAC) OR a second-degree relative who has (or had) PDAC and has a known germline mutation in APC, ATM, BRCA1, BRCA2, CDKN2A, EPCAM, MLH1, MSH2, MSH6, PALB2, PMS2, STK11, or TP53 - The germline mutation and history of PDAC must be on the maternal side or paternal side of the individual's family - Individual with a valid United States mailing address - Individual with access to a healthcare provider and is willing to share genetic test results with that provider/the study team Exclusion Criteria: - Individual with a known cancer susceptibility gene - Individual who has received genetic counseling for cancer risk within the last 3 years - Individual who has received a bone marrow transplant, who has had a blood transfusion within the last 7 days, or who has an active hematologic malignancy (i.e. --- I1307K ---
leukemia or lymphoma) - Individual who is unable to sign the informed consent because of mental incompetency or psychiatric illness - Individual who is unwilling to complete baseline and follow-up questionnaires - Individual who has a life expectancy of less than 1 year - Individual with only APC I1307K mutation within their family - Individual with only PMS2 exons 12-15 deletion mutation within their family Candidates for Hereditary Pancreatic Cancer Testing Pancreatic Neoplasms Around 1 in 10 (10%) pancreatic cancer patients carries an inherited change (mutation) in a gene which can increase the risk of cancer. --- I1307K ---
Primary Outcomes
Description: Measure the effect that alternative methods of genetic education and delivery models have on the increase of genetic testing among family members of mutation positive PDAC patients, among family members of mutation positive individuals with a family history of PDAC and among first-degree relatives of PDAC patients in each arm of the intervention study. We will document how many relatives per family elect to undergo genetic testing and compare the results of this measure between both arms of the study.
Measure: Change of genetic testing among family members of mutation positive PDAC patients, among family members of mutation positive individuals with a family history of PDAC and among first-degree relatives of PDAC patients Time: 2 yearsSecondary Outcomes
Description: Measure the degree that individuals worry about getting cancer using the adapted Lerman Breast Cancer Worry Scale. This is an 8 item scale with a total score ranging from 8-32, with high scores indicating more frequent worries. A cut-off of equal to or greater than 14 will indicate moderate to high cancer worry.
Measure: Level of cancer-risk distress Time: Baseline, immediately post intervention, 3-4 months post intervention, 15 months post interventionDescription: Assess the participants' understanding of general concepts learned within a genetic counseling session targeted towards multigene panel testing, including inheritance, inherited cancer risks, possible test results of multi-gene panel testing and limitations, and changes in medical management related to an inherited cancer risk
Measure: Increase of knowledge of genetic testing Time: Immediately post interventionDescription: Assess the participants perception of how helpful the genetic education was in deciding to pursue genetic testing using a validated 10 item Preparation for Decision Making Scale. This is a brief validated 10 item measure that assesses the participants perception of how useful a decision support intervention is in preparing the participant to make a health decision. Items are summed and scored, and higher scores indicate higher perceived level of preparation.
Measure: Factors in decision making Time: Immediately post interventionDescription: Measure items pertaining to disclosure of genetic test results to relatives which includes asking if participants communicated at all with specific family members and if they disclosed results of genetic testing to anyone in their family
Measure: Degree of family communication about genetic test results Time: 3-4 months post intervention, 15 months post interventionDescription: Examine appropriate screening (such as mammography, colonoscopy) uptake and health behaviors (i.e. smoking, alcohol use) for those who test positive or negative in both arms of the study
Measure: Uptake of surveillance for pancreatic, other associated cancers and health behaviors Time: Baseline and 15 months post intervention