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GENetic Risk Estimation of Breast Cancer Prior to Decisions on Preventive Therapy Uptake, Risk Reducing Surgery or Intensive Imaging Surveillance (GENRE2)

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ClinicalTrials.gov Identifier: NCT04474834
Recruitment Status : Enrolling by invitation
First Posted : July 17, 2020
Last Update Posted : July 17, 2020
Sponsor:
Information provided by (Responsible Party):
Sandhya Pruthi, M.D., Mayo Clinic

Brief Summary:
The primary aim of this study is to determine if the addition of an individual polygenic risk score (PRS) in addition to the 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.

Condition or disease Intervention/treatment
Breast Cancer Genetic: Polygenic Risk Score

Detailed Description:
This is a minimal risk prospective multisite study with a single arm incorporating the PRS into a standard breast cancer risk reduction consultation, followed by annual surveys over 10 years to determine if and how the availability of the PRS influenced patient decisions regarding preventive medicine and medication compliance. Because women know beforehand that the PRS is pending, study participants will be advised that a final decision to take preventive medicine must be deferred until after the PRS results are made available. Nevertheless, a survey of understanding of risk and benefit and assessment of willingness to take preventive medicine will be done prior to receiving the PRS results and then another survey will be completed after receiving the PRS score.

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Study Type : Observational
Estimated Enrollment : 900 participants
Observational Model: Cohort
Time Perspective: Prospective
Official Title: GENetic Risk Estimation of Breast Cancer Prior to Decisions on Preventive Therapy Uptake, Risk Reducing Surgery or Intensive Imaging Surveillance: A Study to Determine if a Polygenic Risk Score Influences the Decision Making Options Amongst High Risk Women (GENRE 2)
Actual Study Start Date : October 17, 2019
Estimated Primary Completion Date : July 31, 2023
Estimated Study Completion Date : December 31, 2024

Resource links provided by the National Library of Medicine

MedlinePlus related topics: Breast Cancer

Group/Cohort Intervention/treatment
PRS
Providing polygenic risk score (PRS)
Genetic: Polygenic Risk Score
A Polygenic Risk Score (PRS) is a blood based genetic test which assesses 300 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 %).




Primary Outcome Measures :
  1. Patient self-reported intention to take a breast cancer preventing medication [ Time Frame: up to 6 months after initial consultation ]

Secondary Outcome Measures :
  1. Proportion of patients who are taking preventative medications each year for 10 years [ Time Frame: Each year for up to 10 years ]
  2. Endocrine related quality of life scores each year for 10 years [ Time Frame: Each year for up to 10 years ]
  3. Proportion of patient who are pursuing supplemental screening for 10 years [ Time Frame: Each year for up to 10 years ]


Information from the National Library of Medicine

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Ages Eligible for Study:   35 Years to 75 Years   (Adult, Older Adult)
Sexes Eligible for Study:   Female
Gender Based Eligibility:   Yes
Accepts Healthy Volunteers:   Yes
Sampling Method:   Non-Probability Sample
Study Population
Women attending the Mayo Clinic Breast Cancer clinics in Rochester, Arizona and Florida or the Mayo Clinic Health System in Austin or Albert Lea who meet eligibility criteria will be offered participation in this study after initial clinical calculation of the BCRAT or IBIS score and counseling as to the advisability of preventive therapy.
Criteria

Inclusion Criteria:

  1. Women > 35 years old and < 75 years old
  2. Women with any 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. IBIS (Tyrer-Cuzik) score for the 10 year risk of breast cancer of ≥8% 43 C. Biopsy proven atypical ductal hyperplasia or atypical lobular hyperplasia. D. History of lobular carcinoma in situ E. BRCA mutation carrier or other hereditary breast mutation carrier

  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 <8% for the 10 year risk
  2. Women with known contra-indications to Tamoxifen, raloxifene ,exemestane, or anastrazole
  3. Current or prior use of Tamoxifen, raloxifene, exemestane or anastrazole
  4. Unable to give informed consent
  5. Prior history of invasive breast cancer, ductal carcinoma in situ or other breast cancers
  6. At high risk due to prior radiation therapy to the chest
  7. Women who are pregnant or breastfeeding
  8. Prior risk reducing or prophylactic mastectomy

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT04474834


Locations
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United States, Minnesota
Mayo Clinic in Rochester
Rochester, Minnesota, United States, 55905
Sponsors and Collaborators
Mayo Clinic
Investigators
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Principal Investigator: Sandhya Pruthi, MD Mayo Clinic
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Responsible Party: Sandhya Pruthi, M.D., Principal Investigator, Mayo Clinic
ClinicalTrials.gov Identifier: NCT04474834    
Other Study ID Numbers: 19-003085
First Posted: July 17, 2020    Key Record Dates
Last Update Posted: July 17, 2020
Last Verified: July 2020
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: No

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Keywords provided by Sandhya Pruthi, M.D., Mayo Clinic:
BCRAT
IBIS
Breast Cancer
BRCA1
BRCA2
BRCA
BRCA 1/2
Tyrer-Cuzick
CEDM
PRS
Additional relevant MeSH terms:
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Breast Neoplasms
Neoplasms by Site
Neoplasms
Breast Diseases
Skin Diseases