Scripps Polster Breast Care Center Investigational GeneBank
Trial Snapshot
- Phase
- Not Applicable
- Status
- Completed
- Sponsor
- Enrollment
- 1,136
- Locations
- 1
- Primary Endpoint
- Genotyping
Study Overview
Brief Summary
Breast cancer is a disease of complex origin with a strong genetic component. The incidence of breast cancer is very high in monozygotic twins of patients, and it is thought that a high proportion and perhaps the majority of breast cancers arise in a small number of genetically susceptible women. Recent studies in human genetics have discovered several intervals in the human genome containing inherited variants that are statistically associated with the propensity to develop breast cancer. The investigators plan to use this knowledge to design a genetic screening test to guide recommendations for breast cancer screening with mammography. If the small group of genetically susceptible women can be identified, more effective breast cancer screening strategies can be implemented. In contrast, a very large proportion of women who undergo yearly mammography are at exceptionally low risk from a genetic perspective. Using genomic guidance could eventually reconfigure the most efficacious strategy to screen women for early detection of breast cancer.
By developing a genetic screening panel based on genetic markers for breast cancer, the investigators will be able to more accurately determine a woman's individual risk for developing breast cancer.
Detailed Description
Women the age of 30 or over who are undergoing screening or diagnostic breast imaging as an out patient at the Scripps Polster Breast Care Center in La Jolla, CA, with at least 5 years of historic breast imaging data available will be eligible to enroll. For this study, consecutive subjects who have completed screening or diagnostic breast imaging at the Scripps Polster Breast Care Center will be enrolled for one day. It is estimated that up to 5000 subjects will be included in the cohort.
Study Design
- Study Type
- Observational
- Observational Model
- Cohort
Eligibility Criteria
- Ages
- 30 Years to — (Adult, Older Adult)
- Sex
- Female
- Accepts Healthy Volunteers
- Yes
Inclusion Criteria
- •Age 30 years or older
- •Be reliable, cooperative and willing to comply with all protocol-specified procedures
- •Able to understand and grant informed consent
- •Be undergoing screening or diagnostic breast imaging
- •Have at least 5 years of breast imaging data available
Exclusion Criteria
- •Have a significant chronic medical condition which, in the Investigator's opinion, would interfere with the subject's participation in the study
- •Have undergone treatment with any investigational agents or devices within thirty days preceding enrollment in the study
- •Have taken any CNS sedation or depressants in past 12 hours
Outcomes
Primary Outcomes
Genotyping
Time Frame: End of study
Genotype a panel of single nucleotide polymorphisms (SNPs) previously shown to be highly associated with increased risk to breast cancer in a cohort of women with either at least 5 years of historical breast imaging data available or 30-45 year old breast cancer patients with at least one year imaging data
Secondary Outcomes
No secondary outcomes reported
Investigators
Eric Topol, MD
Director, Scripps Translational Science Institute
Scripps Translational Science Institute