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

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.

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)

Conditions6

Locations1 site

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