Genetic Risk Estimation of Breast Cancer Prior to Preventive Medication Uptake

Mayo Clinic151 enrolled

Overview

The primary aim of this study is to determine if the addition of an individual polygenic risk score (PRS), in addition to the standard National Cancer Institute's Breast Cancer Risk Assessment Tool (BCRAT) or Tyrer-Cuzick (IBIS) score, will aid women at risk of breast cancer in making a decision to take (or not take) medications to prevent breast cancer

This trial is a prospective pilot study looking to integrate a novel and retrospectively validated polygenic risk score (PRS), based on 77 Single Nucleotide Polymorphisms (SNPs), into a standard breast cancer prevention consultation for non-BRCA women. In order to be eligible for trial participation, women will need to have a BCRAT estimate of ≥3% for the 5 year risk of developing breast cancer (which corresponds to the United States Preventative Services Task Force threshold for moderate to strong benefit from breast cancer preventing medications such as tamoxifen or raloxifene. At the time of the breast cancer prevention consultation, women will be offered participation in this study by a clinical trials nurse and informed written consent will be obtained. For consenting patients, a single 7 to 10 ml blood sample will be taken and couriered to the MAYO clinic for sample analysis and several surveys will be administered. One of the surveys will assess the participants understanding and intention to take or not take breast cancer preventing medications. The decision to take or not take a breast cancer preventing medication will be deferred until a subsequent follow up visit. On the second visit, the PRS test results will be reviewed with the patient and a recommendation regarding preventive medications will be made. The PRS score will risk stratify patients into one of three lifetime risk categories of developing breast cancer (low risk (\<15 % lifetime risk), above average risk (15 to \<40% risk) and high risk (\>40%)). Participants will then answer a second survey in which their understanding of their breast cancer risk and intention to take breast cancer preventing medications will be assessed.

Study Type

INTERVENTIONAL

Allocation

Purpose

PREVENTION

Masking

NONE

Enrollment

151

Conditions

Breast Cancer

Interventions

Polygenic Risk ScoreGENETIC

A Polygenic Risk Score (PRS) is a blood based genetic test which assesses 77 common breast cancer susceptibility loci (Single Nucleotide Polymorphisms). The PRS has been retrospectively validated and categorizes women into three categories of lifetime risk of developing breast cancer: Low Risk (\<15% lifetime risk), Above Average Risk (15 to 40%), and high risk (\>40%).

Eligibility

Sex: FEMALEMin age: 35 YearsMax age: 75 YearsHealthy volunteers:

Medical Language ↔ Plain English

Inclusion Criteria: 1. Women \> 35 years old and \< 75 years old 2. Women with either of the following: A. a NCI-BCRAT 5 year risk of ≥ 3% which corresponds to the level in which there is moderate evidence of treatment benefit outweighing risk according to the US Preventative Services Task Force (32); or B. Women with a IBIS (Tyrer-Cuzik) score for the 10 year risk of breast cancer of ≥5% 3. Able to participate in all aspects of the study 4. Understand and signed the study informed consent Exclusion Criteria: 1. Women whose BCRAT falls below the threshold (\<3 % 5 year risk) of moderate benefit according to the US Preventative Task Force AND Women whose IBIS score is \<5% for the 10 year risk 2. Women with known BRCA1 and BRCA2 mutations 3. Women with known contra-indications to Tamoxifen, raloxifene or exemestane 4. Unable to give informed consent 5. Prior history of invasive breast cancer or ductal carcinoma in situ 6. At risk due to prior radiation therapy to the chest

Locations (2)

Mayo Clinic in Rochester

Rochester, Minnesota, United States

CancerCare Manitoba

Winnipeg, Manitoba, Canada

Outcomes

Primary Outcomes

Patient self-reported intention to take a breast cancer preventing medication

Time frame: up to 6 months after initial consultation

Secondary Outcomes

Proportion of patients who are taking preventive medications at year 1

Time frame: 1 year

Proportion of patients who are taking preventive medications at year 2

Time frame: 2 years

Endocrine related quality of life scores at 1 year

Functional Assessment of Cancer Therapy (FACT) - Endocrine Subscale Quality of Life Tool

Time frame: 1 year

Endocrine related quality of life scores at 2 years

Functional Assessment of Cancer Therapy (FACT) - Endocrine Subscale Quality of Life Tool

Time frame: 2 years

Data from ClinicalTrials.gov

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