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

2014-08-26 22:13:40 | BioPortfolio


This protocol compares use of single nucleotide polymorphism panels to common risk assessment models. Women undergoing screening mammography or breast biopsy due to BIRADS Category 4 lesion will be asked to provide buccal swabs and health information used to complete each risk model. These risk models will be compared to see whether either improves the positive predictive value of breast biopsy for BIRADS4 lesions. Subjects undergoing biopsy will be followed to examine cancer outcomes.


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=600), 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 Design

Observational Model: Cohort, Time Perspective: Prospective




Abramson Cancer Center of the University of Pennsylvania
United States




Abramson Cancer Center of the University of Pennsylvania

Results (where available)

View Results


Published on BioPortfolio: 2014-08-26T22:13:40-0400

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Medical and Biotech [MESH] Definitions

Radiographic examination of the breast.

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