Genetic Risk Estimation of Breast Cancer Prior to Preventive Medication Uptake

NCT ID: NCT02517593

Last Updated: 2020-12-30

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

COMPLETED

Clinical Phase

PHASE1/PHASE2

Total Enrollment

151 participants

Study Classification

INTERVENTIONAL

Study Start Date

2016-03-31

Study Completion Date

2019-12-01

Brief Summary

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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

Detailed Description

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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.

Conditions

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Breast Cancer

Keywords

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BCRAT IBIS PRS breast cancer Tyrer-Cuzick

Study Design

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Allocation Method

NA

Intervention Model

SINGLE_GROUP

Primary Study Purpose

PREVENTION

Blinding Strategy

NONE

Study Groups

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PRS

Providing polygenic risk score (PRS)

Group Type OTHER

Polygenic Risk Score

Intervention Type GENETIC

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%).

Interventions

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Polygenic Risk Score

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%).

Intervention Type GENETIC

Other Intervention Names

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PRS

Eligibility Criteria

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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
Minimum Eligible Age

35 Years

Maximum Eligible Age

75 Years

Eligible Sex

FEMALE

Accepts Healthy Volunteers

Yes

Sponsors

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CancerCare Manitoba

OTHER

Sponsor Role collaborator

Mayo Clinic

OTHER

Sponsor Role lead

Responsible Party

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Sandhya Pruthi, M.D.

Principal Investigator

Responsibility Role PRINCIPAL_INVESTIGATOR

Principal Investigators

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Sandhya Pruthi, MD

Role: PRINCIPAL_INVESTIGATOR

Mayo Clinic

Locations

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Mayo Clinic in Rochester

Rochester, Minnesota, United States

Site Status

CancerCare Manitoba

Winnipeg, Manitoba, Canada

Site Status

Countries

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United States Canada

Related Links

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Other Identifiers

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CCM-003

Identifier Type: OTHER

Identifier Source: secondary_id

15-006204

Identifier Type: -

Identifier Source: org_study_id