Clinical trial NCT01124019: Single Nucleotide Polymorphism (SNP) Panels and Risk Assessment in Women Undergoing Mammography
Official title: SNP Panels and Risk Assessment in Women Undergoing Mammography
Study type: OBSERVATIONAL
Overall status: COMPLETED
Conditions: Mammography
Keywords: Women undergoing screening mammography will be chosen if they are between the ages of 40 and 65.
Lead sponsor: Abramson Cancer Center at Penn Medicine
Sponsor class: OTHER
First posted: 2010-05-14
Enrollment: 1600
Sex: FEMALE
Minimum age (years): 40
Maximum age (years): 65
Standard ages: ADULT
OLDER_ADULT
Accepts healthy volunteers: yes
Observational model: COHORT
Time perspective: PROSPECTIVE
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.

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.

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.

Primary outcomes:
measure: Predicted Risk Category and Prevention Recommendations
Secondary outcomes:
measure: Tests and Evaluations
Other outcomes:
Locations:
city: Philadelphia
country: United States
facility: Abramson Cancer Center of the University of Pennsylvania
state: Pennsylvania
Study officials:
affiliation: Abramson Cancer Center at Penn Medicine
name: Susan Domchek, MD
role: PRINCIPAL_INVESTIGATOR
References: