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

SNP Panels and Risk Assessment in Women Undergoing Mammography

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.

Study Overview

• Status: Completed
• Conditions: Mammography

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.

• Study Type: Observational
• Enrollment (Anticipated): 1600

Contacts and Locations

Study Locations

• United States
  • Pennsylvania
    • Philadelphia, Pennsylvania, United States, 19104
      • Abramson Cancer Center of The University of Pennsylvania

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 40 years to 65 years (Adult, Older Adult)
• Accepts Healthy Volunteers: Yes
• Genders Eligible for Study: Female

• Sampling Method: Probability Sample

Study Population

Adult women will be recruited for this study. Women undergoing screening mammography will be chosen if they are between the ages of 40 and 65. 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.

Description

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.

Study Plan

How is the study designed?

Number of groups / cohorts

2

Cohorts and Interventions

Group / Cohort
Random Sample; A random sample of 600 women undergoing screening mammography
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.

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description
Predicted Risk Category and Prevention Recommendations	The predicted risk category and prevention recommendations which are based upon the category each patient falls into after risk assessment using either a traditional or a SNP-based approach. Change in PPV of mannographic biopsy by stratification into low and high risk groups.

Secondary Outcome Measures

Outcome Measure	Measure Description
Tests and Evaluations	Secondary Outcome will be determining the number of women who are ordered and/or complete tests and/or evaluations if there are abnormal imaging results during mammography or if they have high lifetime risk. These will be measured through access to the electronic medical records (EMR) and/or through a follow up survey.

Collaborators and Investigators

• Sponsor: Abramson Cancer Center of the University of Pennsylvania
• Investigators: Principal Investigator: Susan Domchek, MD, Abramson Cancer Center of The University of Pennsylvania

Study record dates

Study Major Dates

• Study Start: February 1, 2010
• Primary Completion (Actual): October 1, 2012
• Study Completion (Actual): October 1, 2012

Study Registration Dates

• First Submitted: May 13, 2010
• First Submitted That Met QC Criteria: May 13, 2010
• First Posted (Estimate): May 14, 2010

Study Record Updates

• Last Update Posted (Actual): March 7, 2019
• Last Update Submitted That Met QC Criteria: March 6, 2019
• Last Verified: March 1, 2019

More Information

Terms related to this study

• Keywords: Women undergoing screening mammography will be chosen if they are between the ages of 40 and 65.
• Other Study ID Numbers: UPCC 17109