Adding a Genetic Risk Evaluation to Standard Breast Cancer Risk Assessment for African American and Hispanic Women

Mayo Clinic

Status

Enrolling

Conditions

Breast Atypical Ductal Hyperplasia

Breast Carcinoma

Breast Atypical Lobular Hyperplasia

Breast Lobular Carcinoma In Situ

Treatments

Procedure: Genotyping

Other: Survey Administration

Procedure: Biospecimen Collection

Study type

Observational

Funder types

Other

Identifiers

NCT05755269

22-003513 (Other Identifier)

NCI-2022-10133 (Registry Identifier)

MC220303

Details and patient eligibility

About

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.

Full 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.

Enrollment

50 estimated patients

Sex

Female

Ages

30 to 75 years old

Volunteers

No Healthy Volunteers

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)