Clinical trial NCT00945464: Scripps Polster Breast Care Center Investigational GeneBank
Official title: Scripps Polster Breast Care Center Investigational GeneBank
Study type: OBSERVATIONAL
Overall status: COMPLETED
Conditions: Breast Cancer
Lead sponsor: Scripps Translational Science Institute
Sponsor class: OTHER
First posted: 2009-07-24
Enrollment: 1136
Sex: FEMALE
Minimum age (years): 30
Standard ages: ADULT
OLDER_ADULT
Accepts healthy volunteers: yes
Observational model: COHORT
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Women over the age of 30 undergoing breast imaging at the Scripps Polster Breast Care Center.

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.

Eligibility criteria: 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

Primary outcomes:
measure: Genotyping
timeFrame: End of study
Secondary outcomes:
Other outcomes:
Locations:
city: La Jolla
country: United States
facility: Scripps Polster Breast Care Center
state: California
Study officials:
affiliation: Scripps Translational Science Institute and Genomic Medicine
name: Eric J Topol, MD
role: PRINCIPAL_INVESTIGATOR
References: