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

This study has been completed.
Sponsor:
Information provided by (Responsible Party):
Abramson Cancer Center of the University of Pennsylvania
ClinicalTrials.gov Identifier:
NCT01124019
First received: May 13, 2010
Last updated: October 10, 2014
Last verified: October 2014

May 13, 2010
October 10, 2014
February 2010
October 2012   (final data collection date for primary outcome measure)
Predicted Risk Category and Prevention Recommendations [ Designated as safety issue: No ]
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.
Same as current
Complete list of historical versions of study NCT01124019 on ClinicalTrials.gov Archive Site
Tests and Evaluations [ Designated as safety issue: No ]
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.
Same as current
Not Provided
Not Provided
 
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.

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.

Observational
Observational Model: Cohort
Time Perspective: Prospective
Not Provided
Not Provided
Probability Sample

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.

Mammography
Not Provided
  • 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.
Not Provided

*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Completed
1600
October 2012
October 2012   (final data collection date for primary outcome measure)

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.
Female
40 Years to 65 Years
Yes
Contact information is only displayed when the study is recruiting subjects
United States
 
NCT01124019
UPCC 17109
No
Abramson Cancer Center of the University of Pennsylvania
Abramson Cancer Center of the University of Pennsylvania
Not Provided
Principal Investigator: Susan Domchek, MD Abramson Cancer Center of the University of Pennsylvania
Abramson Cancer Center of the University of Pennsylvania
October 2014

ICMJE     Data element required by the International Committee of Medical Journal Editors and the World Health Organization ICTRP