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

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.

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.