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

NCT05755269 | Terminated

• 2 other identifiers: MC22030322-003513
• Study Type: observational
• Target: 19
• Locations: 1 country
• Sites: 1

Brief Summary

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.

Conditions

Breast Atypical Lobular Hyperplasia; Breast Carcinoma; Breast Lobular Carcinoma In Situ; Breast Atypical Ductal Hyperplasia

Outcome Measures

Primary Outcomes (7)

• Whether the addition of an individual polygenic risk score (PRS) to the Breast Cancer Risk Assessment Tool (BCRAT) will improve intentions to adhere to recommended breast cancer screening strategies

  Continuous variables will be summarized as mean (standard deviation) or median (range) and categorical variables will be reported as frequency (percentage).

  Up to 10 years

• Whether the addition of an individual polygenic risk score (PRS) to the Tyrer-Cuzick (IBIS) score will improve intentions to adhere to recommended breast cancer screening strategies

  Continuous variables will be summarized as mean (standard deviation) or median (range) and categorical variables will be reported as frequency (percentage).

  Up to 10 years

• Whether the addition of the PRS to the BCRAT will aid women in deciding whether to take preventative endocrine therapy in women of racial minorities

  PRS score will be generated using a statistical model to determine a woman's absolute risk of breast cancer, by adding the PRS to the predictions based on either the BCRAT or IBIS models. Continuous variables will be summarized as mean (standard deviation) or median (range) and categorical variables will be reported as frequency (percentage).

  Up to 10 years

• Whether the addition of the PRS to the IBIS risk score will aid women in deciding whether to take preventative endocrine therapy in women of racial minorities

  PRS score will be generated using a statistical model to determine a woman's absolute risk of breast cancer, by adding the PRS to the predictions based on either the BCRAT or IBIS models. Continuous variables will be summarized as mean (standard deviation) or median (range) and categorical variables will be reported as frequency (percentage).

  Up to 10 years

• How individualized risk assessment on PRS may alter perceived risk of breast cancer

  PRS score will be generated using a statistical model to determine a woman's absolute risk of breast cancer, by adding the PRS to the predictions based on either the BCRAT or IBIS models. Will use the R package Individualized Coherent Absolute Risk Estimators (iCare) a tool that allows researchers to quickly build models for absolute risk and apply them to estimate individuals' risk based on a set of user defined input. Continuous variables will be summarized as mean (standard deviation) or median (range) and categorical variables will be reported as frequency (percentage).

  Up to 10 years

• How individualized information on PRS may alter perceived risk of breast cancer

  The information used to calculate risk based on either the BCRAT or IBIS models accounts for known risk factors other than the PRS, creating a baseline hazard rate for each woman. Continuous variables will be summarized as mean (standard deviation) or median (range) and categorical variables will be reported as frequency (percentage).

  Up to 10 years

• Long-term cumulative risk of cancer for the at-risk lesion

  Kaplan-Meier method will be used to estimate the long-term cumulative risk of cancer for the at-risk lesion.

  Up to 10 years

Study Arms (1)

Observational (blood collection, genotyping, surveys)

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.

Procedure: Biospecimen Collection; Procedure: Genotyping; Other: Survey Administration

Interventions

Biospecimen Collection PROCEDURE

Undergo collection of blood samples

Also known as: Biological Sample Collection, Biospecimen Collected, Specimen Collection

Observational (blood collection, genotyping, surveys)

Genotyping PROCEDURE

Undergo genotyping

Also known as: GENOTYPE, Genotype Analysis, Genotype Assay

Observational (blood collection, genotyping, surveys)

Survey Administration OTHER

Complete surveys

Observational (blood collection, genotyping, surveys)

Eligibility Criteria

• Age: 30 Years - 75 Years
• Sex: female
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

African American/Black or Hispanic/Latinx women attending the Mayo Clinic Breast Center.

You may qualify if:

• 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

You may not qualify if:

• 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)

Sponsors & Collaborators

• Mayo Clinic: lead

Study Sites (1)

Mayo Clinic in Florida

Jacksonville, Florida, 32224-9980, United States

Location

Related Links

• Mayo Clinic Clinical Trials

MeSH Terms

Conditions

Carcinoma, Intraductal, Noninfiltrating; Breast Neoplasms; Breast Carcinoma In Situ

Interventions

Specimen Handling; Genotype

Condition Hierarchy (Ancestors)

Adenocarcinoma; Carcinoma; Neoplasms, Glandular and Epithelial; Neoplasms by Histologic Type; Neoplasms; Carcinoma in Situ; Neoplasms, Ductal, Lobular, and Medullary; Neoplasms by Site; Breast Diseases; Skin Diseases; Skin and Connective Tissue Diseases

Intervention Hierarchy (Ancestors)

Clinical Laboratory Techniques; Diagnostic Techniques and Procedures; Diagnosis; Investigative Techniques; Genetic Phenomena

Study Officials

• Sabrina Sahni, M.D.

  Mayo Clinic

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: February 14, 2023
• First Posted: March 6, 2023
• Study Start: March 14, 2023
• Primary Completion: December 31, 2025
• Study Completion: December 31, 2025
• Last Updated: May 1, 2026

Record last verified: 2026-04

Locations

US (1)