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 Overview

• Status: Completed
• Conditions: Breast Cancer
• Intervention / Treatment: Other: Blood/saliva samples, historic breast imaging

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 Type: Observational
• Enrollment (Actual): 1136

Contacts and Locations

Study Locations

• United States
  • California
    • La Jolla, California, United States, 92037
      • Scripps Polster Breast Care Center

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 30 years and older (Adult, Older Adult)
• Accepts Healthy Volunteers: Yes
• Genders Eligible for Study: Female

• Sampling Method: Non-Probability Sample

Study Population

Women over the age of 30 undergoing breast imaging at the Scripps Polster Breast Care Center.

Description

Inclusion Criteria:

1. Age 30 years or older
2. Be reliable, cooperative and willing to comply with all protocol-specified procedures
3. Able to understand and grant informed consent
4. Be undergoing screening or diagnostic breast imaging
5. Have at least 5 years of breast imaging data available

Exclusion Criteria:

1. Have a significant chronic medical condition which, in the Investigator's opinion, would interfere with the subject's participation in the study
2. Have undergone treatment with any investigational agents or devices within thirty days preceding enrollment in the study
3. Have taken any CNS sedation or depressants in past 12 hours

Study Plan

How is the study designed?

Number of groups / cohorts

1

Cohorts and Interventions

Group / Cohort	Intervention / Treatment
No treatment; 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.

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Genotyping	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	End of study

Collaborators and Investigators

• Sponsor: Scripps Translational Science Institute
• Investigators: Principal Investigator: Eric J Topol, MD, Scripps Translational Science Institute and Genomic Medicine

Study record dates

Study Major Dates

• Study Start: July 1, 2008
• Primary Completion (Actual): June 1, 2015
• Study Completion (Actual): June 1, 2015

Study Registration Dates

• First Submitted: July 22, 2009
• First Submitted That Met QC Criteria: July 23, 2009
• First Posted (Estimate): July 24, 2009

Study Record Updates

• Last Update Posted (Estimate): October 16, 2015
• Last Update Submitted That Met QC Criteria: October 14, 2015
• Last Verified: October 1, 2015

More Information

Terms related to this study

• Other Study ID Numbers: LAJ 08-8001