Hereditary Breast and Ovarian Cancer Clinical Trial
— HCPOfficial title:
University of Southern California (USC) Norris Comprehensive Cancer Center and Stanford Cancer Institute Cancer Genetics Hereditary Cancer Panel Testing
Verified date | April 2017 |
Source | University of Southern California |
Contact | n/a |
Is FDA regulated | No |
Health authority | |
Study type | Observational |
This study is about understanding the use of a genetic test (Myriad Genetics myRisk panel) that analyzes 25 genes related to different hereditary cancer conditions. The investigators hope to learn more about how this type of genetic test is used clinically. The investigators also hope to understand more about the experience of individuals and families who undergoing this test of genetic testing.
Status | Completed |
Enrollment | 1511 |
Est. completion date | January 5, 2017 |
Est. primary completion date | January 5, 2017 |
Accepts healthy volunteers | No |
Gender | All |
Age group | N/A and older |
Eligibility |
Inclusion Criteria:Screening Criteria Patients meeting one of the following criteria will
be eligible for screening the study. - Any individual with multiple primary cancers - Any individual diagnosed with cancer under age 50 - Individuals with two or more first or second-degree relatives with cancer. - Individuals from families where at least one family member was diagnosed with cancer under age 50 - Individuals meeting a phenotypic diagnosis of specific hereditary cancer syndromes including, but not limited to: - Hereditary Breast and Ovarian Cancer - Lynch Syndrome - Familial or Attenuated Adenomatous Polyposis Syndrome - Hereditary Melanoma Syndrome - Hereditary Pancreatic Syndrome - Li Fraumeni Syndrome - Cowden Syndrome - Hereditary Diffuse Gastric Cancer - Peutz Jeghers Syndrome - Juvenile Polyposis Syndrome - Ataxia Telangiectasia (Louis-Bar syndrome) Individuals with a pretest mutation probability of > 2.5% based on validated published models 15 - Mismatch Repair (MMR)pro - Prediction model for mutL homolog 1 (MLH1), muS homolg 2 (MSH2), and mutS homolog 6 (MSH6) gene mutations (Premm 1,2,6) - Pancreas (Panc)Pro - Melanoma (Mela)Pro - Breast cancer (BRCA)Pro - Breast and Ovarian Analysis of Disease Incidence and Carrier Estimation Algorithm (BOADICEA) - International Breast Cancer Intervention Study (IBIS) (Tyler-Cuzick) - Myriad II - Phosphatase and tensin homolog (PTEN) Cleveland Clinic Score - Clinical probability of > 2.5% where models are not available Or one of the following: Individuals with a phenotypic diagnosis of the following recognized cancer genetic syndromes which automatically confers a clinical chance of > 2.5%: - Hereditary Breast and Ovarian Cancer - Lynch Syndrome - Familial or Attenuated Adenomatous Polyposis Syndrome - Hereditary Melanoma Syndrome - Hereditary Pancreatic Syndrome - Li Fraumeni Syndrome - Cowden Syndrome - Hereditary Diffuse Gastric Cancer - Peutz Jeghers Syndrome - Juvenile Polyposis Syndrome - Ataxia Telangiectasia (Louis-Bar syndrome) Participation will be open to patients of both sexes, all races and ethnic backgrounds, and of all ages. Subjects will include healthy individuals, cancer survivors, and patients actively being treated for cancer. Individuals at-risk for a hereditary cancer syndrome under age 18 will eligible for HCP testing if they meet the eligibility criteria with written parental consent and child assent where appropriate. Cognitively impaired adult subjects will be invited to participate through the written, informed consent of a legal representative designated on the consent form. Exclusion Criteria: Patients meeting one of the following criteria will be excluded the study - Individuals with a pretest mutation probability of < 2.5% based on validated published models - Prior genetic testing for germline cancer susceptibility - Inability to provide written informed consent |
Country | Name | City | State |
---|---|---|---|
United States | University of Southern California/ Kenneth Norris, Jr. Comprehensive Cancer Center and Hospital | Los Angeles | California |
United States | Stanford University | Stanford | California |
Lead Sponsor | Collaborator |
---|---|
University of Southern California | Stanford University |
United States,
Type | Measure | Description | Time frame | Safety issue |
---|---|---|---|---|
Primary | Develop Hereditary Cancer panel repository | Develop a resource (repository and database) with banked specimens, HCP panel results, pre-clinical and follow up information and impact of the HCP results | 3 years | |
Secondary | Analyze frequency of genes found on HCP panel in high-risk population | Summarize results of the HCP testing in terms of genes found with mutations and the frequency of mutation. The investigators will review expected versus actual off target or incidental findings from HCP testing. Off target findings will be classified into clinical actionable versus variants of uncertain significance (VUS). Incidence rates of off target mutations will be quantified and types of mutations will be qualitatively described. | 3 years | |
Secondary | Follow medical management of subjects after multi-gene panel testing | Summarize the medical management of these subjects - prior to testing after results disclosure of testing, and over the subsequent 5 years. The investigators will descriptively report changes to medical management from pre-cancer risk assessment and HCP testing and post-cancer risk assessment and HCP testing. For each patient, the investigators will determine whether the HCP result leads to a change in recommendation in regards to the risk reducing interventions and treatment. | 5 years | |
Secondary | Descriptive analysis of patient information gained through process | Perform descriptive analyses of information gained, in terms of reported patient experience and understanding of HCP testing. The investigators will measure the time it takes to reach a diagnosis with panel testing as compared to the sum of the average turnaround time (based on measurements supplied by Myriad Genetics) for sequential testing of single candidate genes. Bayesian models will be developed to measure the effect of an HCP actionable mutation result or an HCP VUS results on the final differential diagnosis of the patient. The Bayesian paradigm allows one to update the likelihood or probability of the event under consideration as more information becomes available. In addition to the questionnaire that subjects will complete about their intent to undergo risk-reducing interventions (Specific Aim 5), subjects will also complete a questionnaire to measure concerns and psychosocial issues associated with genetic testing. |
5 years |
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