<clinical_study>
  <!-- This xml conforms to an XML Schema at:
    https://clinicaltrials.gov/ct2/html/images/info/public.xsd -->
  <required_header>
    <download_date>ClinicalTrials.gov processed this data on September 20, 2023</download_date>
    <link_text>Link to the current ClinicalTrials.gov record.</link_text>
    <url>https://clinicaltrials.gov/ct2/show/NCT04474834</url>
  </required_header>
  <id_info>
    <org_study_id>19-003085</org_study_id>
    <nct_id>NCT04474834</nct_id>
  </id_info>
  <brief_title>GENetic Risk Estimation of Breast Cancer Prior to Decisions on Preventive Therapy Uptake, Risk Reducing Surgery or Intensive Imaging Surveillance</brief_title>
  <acronym>GENRE2</acronym>
  <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)</official_title>
  <sponsors>
    <lead_sponsor>
      <agency>Mayo Clinic</agency>
      <agency_class>Other</agency_class>
    </lead_sponsor>
  </sponsors>
  <source>Mayo Clinic</source>
  <oversight_info>
    <has_dmc>No</has_dmc>
    <is_fda_regulated_drug>No</is_fda_regulated_drug>
    <is_fda_regulated_device>No</is_fda_regulated_device>
  </oversight_info>
  <brief_summary>
    <textblock>
      The primary aim of this study is to determine if the addition of an individual polygenic risk&#xD;
      score (PRS) in addition to the Breast Cancer Risk Assessment Tool (BCRAT) or Tyrer-Cuzick&#xD;
      (IBIS) score will aid women at risk of breast cancer in making a decision to take (or not&#xD;
      take) medications to prevent breast cancer.&#xD;
    </textblock>
  </brief_summary>
  <detailed_description>
    <textblock>
      This is a minimal risk prospective multisite study with a single arm incorporating the PRS&#xD;
      into a standard breast cancer risk reduction consultation, followed by annual surveys over 10&#xD;
      years to determine if and how the availability of the PRS influenced patient decisions&#xD;
      regarding preventive medicine and medication compliance. Because women know beforehand that&#xD;
      the PRS is pending, study participants will be advised that a final decision to take&#xD;
      preventive medicine must be deferred until after the PRS results are made available.&#xD;
      Nevertheless, a survey of understanding of risk and benefit and assessment of willingness to&#xD;
      take preventive medicine will be done prior to receiving the PRS results and then another&#xD;
      survey will be completed after receiving the PRS score.&#xD;
    </textblock>
  </detailed_description>
  <overall_status>Enrolling by invitation</overall_status>
  <start_date type="Actual">October 17, 2019</start_date>
  <completion_date type="Anticipated">December 2026</completion_date>
  <primary_completion_date type="Anticipated">July 2026</primary_completion_date>
  <study_type>Observational</study_type>
  <has_expanded_access>No</has_expanded_access>
  <study_design_info>
    <observational_model>Cohort</observational_model>
    <time_perspective>Prospective</time_perspective>
  </study_design_info>
  <primary_outcome>
    <measure>Patient self-reported intention to take a breast cancer preventing medication</measure>
    <time_frame>up to 6 months after initial consultation</time_frame>
  </primary_outcome>
  <secondary_outcome>
    <measure>Proportion of patients who are taking preventative medications each year for 10 years</measure>
    <time_frame>Each year for up to 10 years</time_frame>
  </secondary_outcome>
  <secondary_outcome>
    <measure>Endocrine related quality of life scores each year for 10 years</measure>
    <time_frame>Each year for up to 10 years</time_frame>
  </secondary_outcome>
  <secondary_outcome>
    <measure>Proportion of patient who are pursuing supplemental screening for 10 years</measure>
    <time_frame>Each year for up to 10 years</time_frame>
  </secondary_outcome>
  <number_of_groups>1</number_of_groups>
  <enrollment type="Anticipated">900</enrollment>
  <condition>Breast Cancer</condition>
  <arm_group>
    <arm_group_label>PRS</arm_group_label>
    <description>Providing polygenic risk score (PRS)</description>
  </arm_group>
  <intervention>
    <intervention_type>Genetic</intervention_type>
    <intervention_name>Polygenic Risk Score</intervention_name>
    <description>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 (&lt;15% lifetime risk), Above Average Risk (15 to 40%), and high risk (&gt;40 %).</description>
    <arm_group_label>PRS</arm_group_label>
  </intervention>
  <eligibility>
    <study_pop>
      <textblock>
        Women attending the Mayo Clinic Breast Cancer clinics in Rochester, Arizona and Florida or&#xD;
        the Mayo Clinic Health System in Austin or Albert Lea who meet eligibility criteria will be&#xD;
        offered participation in this study after initial clinical calculation of the BCRAT or IBIS&#xD;
        score and counseling as to the advisability of preventive therapy.&#xD;
      </textblock>
    </study_pop>
    <sampling_method>Non-Probability Sample</sampling_method>
    <criteria>
      <textblock>
        Inclusion Criteria:&#xD;
&#xD;
          1. Women &gt; 35 years old and &lt; 75 years old&#xD;
&#xD;
          2. Women with any of the following:&#xD;
&#xD;
             A. A NCI-BCRAT 5 year risk of ≥ 3% which corresponds to the level in which there is&#xD;
             moderate evidence of treatment benefit outweighing risk according to the US&#xD;
             Preventative Services Task Force (32); or B. IBIS (Tyrer-Cuzik) score for the 10 year&#xD;
             risk of breast cancer of ≥8% 43 C. Biopsy proven atypical ductal hyperplasia or&#xD;
             atypical lobular hyperplasia. D. History of lobular carcinoma in situ E. BRCA mutation&#xD;
             carrier or other hereditary breast mutation carrier&#xD;
&#xD;
          3. Able to participate in all aspects of the study&#xD;
&#xD;
          4. Understand and signed the study informed consent&#xD;
&#xD;
        Exclusion Criteria:&#xD;
&#xD;
          1. Women whose BCRAT falls below the threshold (&lt;3 % 5 year risk) of moderate benefit&#xD;
             according to the US Preventative Task Force AND Women whose IBIS score is &lt;8% for the&#xD;
             10 year risk&#xD;
&#xD;
          2. Women with known contra-indications to Tamoxifen, raloxifene ,exemestane, or&#xD;
             anastrazole&#xD;
&#xD;
          3. Current or prior use of Tamoxifen, raloxifene, exemestane or anastrazole&#xD;
&#xD;
          4. Unable to give informed consent&#xD;
&#xD;
          5. Prior history of invasive breast cancer, ductal carcinoma in situ or other breast&#xD;
             cancers&#xD;
&#xD;
          6. At high risk due to prior radiation therapy to the chest&#xD;
&#xD;
          7. Women who are pregnant or breastfeeding&#xD;
&#xD;
          8. Prior risk reducing or prophylactic mastectomy&#xD;
      </textblock>
    </criteria>
    <gender>Female</gender>
    <gender_based>Yes</gender_based>
    <minimum_age>35 Years</minimum_age>
    <maximum_age>75 Years</maximum_age>
    <healthy_volunteers>Accepts Healthy Volunteers</healthy_volunteers>
  </eligibility>
  <overall_official>
    <last_name>Sandhya Pruthi, MD</last_name>
    <role>Principal Investigator</role>
    <affiliation>Mayo Clinic</affiliation>
  </overall_official>
  <location>
    <facility>
      <name>Mayo Clinic</name>
      <address>
        <city>Scottsdale</city>
        <state>Arizona</state>
        <zip>85259</zip>
        <country>United States</country>
      </address>
    </facility>
  </location>
  <location>
    <facility>
      <name>Mayo Clinic</name>
      <address>
        <city>Jacksonville</city>
        <state>Florida</state>
        <zip>32224-9980</zip>
        <country>United States</country>
      </address>
    </facility>
  </location>
  <location>
    <facility>
      <name>Northwestern University</name>
      <address>
        <city>Evanston</city>
        <state>Illinois</state>
        <zip>60208</zip>
        <country>United States</country>
      </address>
    </facility>
  </location>
  <location>
    <facility>
      <name>Mayo Clinic in Rochester</name>
      <address>
        <city>Rochester</city>
        <state>Minnesota</state>
        <zip>55905</zip>
        <country>United States</country>
      </address>
    </facility>
  </location>
  <location>
    <facility>
      <name>Cleveland Clinic</name>
      <address>
        <city>Cleveland</city>
        <state>Ohio</state>
        <zip>44195</zip>
        <country>United States</country>
      </address>
    </facility>
  </location>
  <location_countries>
    <country>United States</country>
  </location_countries>
  <link>
    <url>https://www.mayo.edu/research/clinical-trials</url>
    <description>Mayo Clinic Clinical Trials</description>
  </link>
  <verification_date>September 2023</verification_date>
  <study_first_submitted>July 14, 2020</study_first_submitted>
  <study_first_submitted_qc>July 14, 2020</study_first_submitted_qc>
  <study_first_posted type="Actual">July 17, 2020</study_first_posted>
  <last_update_submitted>September 7, 2023</last_update_submitted>
  <last_update_submitted_qc>September 7, 2023</last_update_submitted_qc>
  <last_update_posted type="Actual">September 8, 2023</last_update_posted>
  <responsible_party>
    <responsible_party_type>Principal Investigator</responsible_party_type>
    <investigator_affiliation>Mayo Clinic</investigator_affiliation>
    <investigator_full_name>Sandhya Pruthi, M.D.</investigator_full_name>
    <investigator_title>Principal Investigator</investigator_title>
  </responsible_party>
  <keyword>BCRAT</keyword>
  <keyword>IBIS</keyword>
  <keyword>Breast Cancer</keyword>
  <keyword>BRCA1</keyword>
  <keyword>BRCA2</keyword>
  <keyword>BRCA</keyword>
  <keyword>BRCA 1/2</keyword>
  <keyword>Tyrer-Cuzick</keyword>
  <keyword>CEDM</keyword>
  <keyword>PRS</keyword>
  <condition_browse>
    <!-- CAUTION:  The following MeSH terms are assigned with an imperfect algorithm            -->
    <mesh_term>Breast Neoplasms</mesh_term>
  </condition_browse>
  <patient_data>
    <sharing_ipd>No</sharing_ipd>
  </patient_data>
  <!-- Results have not yet been posted for this study                                          -->
</clinical_study>


download date: ClinicalTrials.gov processed this data on September 20, 2023
link text: Link to the current ClinicalTrials.gov record.
url: https://clinicaltrials.gov/ct2/show/NCT04474834
org study id: 19-003085
nct id: NCT04474834
lead sponsor: 
has dmc: No
is fda regulated drug: No
is fda regulated device: No
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.
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.
observational model: Cohort
time perspective: Prospective
measure: Patient self-reported intention to take a breast cancer preventing medication
time frame: up to 6 months after initial consultation
measure: Proportion of patients who are taking preventative medications each year for 10 years
time frame: Each year for up to 10 years
measure: Endocrine related quality of life scores each year for 10 years
time frame: Each year for up to 10 years
measure: Proportion of patient who are pursuing supplemental screening for 10 years
time frame: Each year for up to 10 years
arm group label: PRS
description: Providing polygenic risk score (PRS)
intervention type: Genetic
intervention name: Polygenic Risk Score
description: 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 %).
arm group label: PRS
study pop: 
sampling method: Non-Probability Sample
criteria: 
gender: Female
gender based: Yes
minimum age: 35 Years
maximum age: 75 Years
healthy volunteers: Accepts Healthy Volunteers
last name: Sandhya Pruthi, MD
role: Principal Investigator
affiliation: Mayo Clinic
facility: 
facility: 
facility: 
facility: 
facility: 
country: United States
url: https://www.mayo.edu/research/clinical-trials
description: Mayo Clinic Clinical Trials
responsible party type: Principal Investigator
investigator affiliation: Mayo Clinic
investigator full name: Sandhya Pruthi, M.D.
investigator title: Principal Investigator
mesh term: Breast Neoplasms
sharing ipd: No