Overview
This study evaluates whether adding a polygenic risk score evaluation to standard breast cancer risk assessment tools helps African American and Hispanic women make more informed decisions about accepting additional breast cancer screening and prevention strategies. Traditional breast cancer risk assessments rely mostly on the presence of standard clinical risk factors including family history, reproductive history, and mammographic breast density. This information can be combined with validated risk estimation models to provide a measure of a patient's 10 year and lifetime risk for breast cancer. A polygenic risk score helps to estimate breast cancer risk in a more individualized way by evaluating a patient's genetics. Adding a polygenic risk score evaluation to traditional screening techniques may help minority women make more informed decisions about screening and prevention strategies for breast cancer.
Description
PRIMARY OBJECTIVES:
I. To explore if the addition of an individual polygenic risk score (PRS) to the Breast Cancer Risk Assessment Tool (BCRAT) or Tyrer-Cuzick (IBIS) score will improve intentions to adhere to recommended breast cancer screening strategies such as mammography, magnetic resonance imaging (MRI), or molecular breast Imaging in women of underserved racial minorities.
II. To explore if the addition of the PRS to the BCRAT or IBIS risk score will aid women in deciding whether to take preventative endocrine therapy in women of racial minorities.
III. To understand how individualized risk assessment and information on PRS may alter perceived risk of breast cancer.
IV. To follow this cohort of women over 10 years to determine subsequent outcomes in regards to diagnoses of at-risk lesions or cancer.
OUTLINE: This is an observational study.
Patients complete a survey and undergo collection of a blood sample for PRS genotyping at baseline. Patients receive their PRS results and complete another survey 6 weeks to 6 months after baseline and then complete surveys annually over 10 years on study.
Eligibility
Inclusion Criteria:
- Women who self-identify as African American/Black or Hispanic/Latinx
- Women >= 30 years old and =< 75 years old
- Women with any of the following:
- IBIS (Tyrer-Cuzik) score of >= 5% for the 10 year risk OR
- BCRAT (Gail Model) score of > 3 % for the 5 year risk
- History of biopsy proven atypical ductal hyperplasia or atypical lobular hyperplasia (with risk calculator assessment A and B)
- History of biopsy proven lobular carcinoma in situ (with risk calculator assessment A and B)
- Able to participate in all aspects of the study
- Understand and signed the study informed consent
Exclusion Criteria:
- Women whose calculated risk for breast cancer falls below the threshold
- Unable to give informed consent
- Prior history of invasive breast cancer, ductal carcinoma in situ or other breast cancers
- Women who are pregnant or breastfeeding
- Prior use of prevention drugs for longer than 6 months
- Prior risk reducing or prophylactic mastectomy
- Known pathogenic genetic mutation linked to breast cancer (such as BRCA 1/2, PALB2, ATM, CHEK2)