Scripps Polster Breast Care Center Investigational GeneBank (PINK)
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.
|Study Design:||Observational Model: Cohort|
|Official Title:||Scripps Polster Breast Care Center Investigational GeneBank|
- Genotyping [ Time Frame: End of study ] [ Designated as safety issue: No ]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
Biospecimen Retention: Samples With DNA
Approximately 19.5 mls of blood will be collected from volunteers. The blood from each subject will be collected via venipuncture. If subject is unable/unwilling to provide blood sample, we can also collect 2 mls of saliva.
|Study Start Date:||July 2008|
|Estimated Study Completion Date:||July 2013|
|Estimated Primary Completion Date:||July 2013 (Final data collection date for primary outcome measure)|
Women over the age of 30 undergoing breast imaging at the Scripps Polster Breast Care Center.
Other: Blood/saliva samples, historic breast imaging
Subjects are required only to provide a blood or saliva sample, relevant personal and family history (if available), and 5 years of historic breast imaging reports.
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.
|United States, California|
|Scripps Polster Breast Care Center|
|La Jolla, California, United States, 92037|
|Principal Investigator:||Eric J Topol, MD||Scripps Translational Science Institute and Genomic Medicine|