Single Nucleotide Polymorphism (SNP) Panels and Risk Assessment in Women Undergoing Mammography

NCT ID: NCT01124019

Last Updated: 2019-03-07

Basic Information

• Recruitment Status: COMPLETED
• Total Enrollment: 1600 participants
• Study Classification: OBSERVATIONAL
• Study Start Date: 2010-02-28
• Study Completion Date: 2012-10-31

Brief Summary

The primary objective is to compare the predicted lifetime risk values produced by SNP panel assessment to the risk values produced by the prediction models that are most commonly used. A second objective is to examine whether the incorporation of risk assessment panels (standard or SNP based) can improve the positive value of breast biopsies in women with BIRADS 4 mammograms.

Detailed Description

Calculating the risk that a woman will develop breast cancer in her lifetime can lead to decreased mortality rates as a result of increased screening and prevention methods when a person is known to be at high risk. Though there are several risk assessment models that are commonly used, it is important to continue to improve the process of calculating risk. Several genetic markers have been noted to potentially indicate risk of developing breast cancer. New tests, called SNP panels, can detect some of these genetic markers. This study aims to use both these SNP panels and the commonly used risk models to calculate risk and examine outcomes in women coming in to do screening mammography. This study will enroll women between the ages of 40-65 who are undergoing screening mammography (n=1000), in addition to women with BIRADS category 4 mammogram readings who are about to undergo biopsy (n=600), all with no personal history of breast or ovarian cancer, ductal carcinoma in situ (DCIS), mantle radiation, or known BRCA 1/2/mutation in self or family members. The participants will only be expected rto provide consent, swabs of the inside of the cheek of her mouth, and baseline questionnaire answers that will allow for a risk assessment to be performed.

Conditions

Mammography

Study Design

• Observational Model Type: COHORT
• Study Time Perspective: PROSPECTIVE

Study Groups

Random Sample

A random sample of 600 women undergoing screening mammography

No interventions assigned to this group

BIRADS score of 4

An additional 600 women determined to have a Breast Imaging Reporting and Data System (BIRADS) score of 4 as determined by final mammogram results.

No interventions assigned to this group

Eligibility Criteria

Inclusion Criteria

• Women between the ages of 40 and 65 years old undergoing screening mammography at the University of Pennsylvania Health System and women undergoing biopsy as the result of a BIRADS category 4 mammogram result.

Exclusion Criteria

• Women will be excluded if they have a personal history of breast or ovarian cancer, DCIS, or mantle radiation, or known BRCA 1/2 mutation in self or in family members.
• In addition, women younger than 40 or older than 65 will be excluded if they are in the screening mammography population of potential participants.

• Minimum Eligible Age: 40 Years
• Maximum Eligible Age: 65 Years
• Eligible Sex: FEMALE
• Accepts Healthy Volunteers: Yes

Sponsors

Abramson Cancer Center at Penn Medicine

OTHER

Sponsor Role: lead

Responsible Party

Responsibility Role: SPONSOR

Principal Investigators

Susan Domchek, MD

Role: PRINCIPAL_INVESTIGATOR

Abramson Cancer Center at Penn Medicine

Locations

Abramson Cancer Center of the University of Pennsylvania

Philadelphia, Pennsylvania, United States

Countries

United States

Other Identifiers

UPCC 17109

Identifier Type: -

Identifier Source: org_study_id