Genetic score may guide breast cancer prevention choices
NCT ID NCT04474834
First seen Jun 27, 2026 · Last updated Jun 27, 2026
Summary
This study looks at whether adding a polygenic risk score (a blood test that estimates genetic risk) to standard risk tools helps high-risk women make decisions about breast cancer prevention. About 737 women aged 35-75 with elevated risk are involved. The goal is to see if the score influences their choice to take preventive medication, have risk-reducing surgery, or get more frequent imaging.
What this could mean
Our plain-language read of the trial. This is informational only, not medical advice or a prediction.
- Active substance
- Polygenic risk score (genetic test)
- What this could lead to
- If successful, this could help doctors and patients make more informed decisions about breast cancer prevention, potentially reducing unnecessary treatments or improving early detection.
- What could go wrong
- This is an observational study, not a treatment trial. The polygenic risk score may not significantly change decisions, and its long-term impact on cancer rates is not being directly measured.
This is an AI summary of the original study and may miss details. Read our disclaimer.
Study facts
What this study's own registry entry says, in plain language.
- Participants
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737 people
The number who actually took part.
- Started
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Oct 2019
- Expected to finish
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Dec 2029
An estimate. End dates often move.
- Lead sponsor
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Other sponsor
The registry's catch-all category, for sponsors it does not file as a company, a government agency, or a research network.
Who can take part
This study's own entry requirements. Only the study team can say for certain whether you qualify.
Who is studied
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.
- Ages
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35 to 75 years
- Sex
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Female participants only
- Healthy volunteers
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Accepted
You do not need to have the condition being studied to take part.
Show the full entry requirements Hide the full entry requirements
Copied word for word from the study's registry entry, so the wording is the study team's rather than ours.
Inclusion Criteria: * Women \>= 35 years old and =\< 75 years old with at least one of the following: * A National Cancer Institute (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 United States (US) Preventative Services Task Force * IBIS (Tyrer-Cuzik) score for the 10 year risk of breast cancer of \>= 5% * History atypical ductal hyperplasia or atypical lobular hyperplasia with a BCRAT \>= 3% or IBIS \>= 5% * History of lobular carcinoma in situ with a BCRAT \>= 3% or IBIS \>= 5% OR * Women \>= 18 years old or =\< 75 years old with a BRCA 1 or 2 mutation, CHEK 2, PALB 2, ATM, or other hereditary breast mutation carrier per investigator * Willing and able to provide an email address to receive study surveys * Able to participate in all aspects of the study * Understand and sign the study informed consent Exclusion Criteria: * 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 * Women with known contra-indications to Tamoxifen, raloxifene ,exemestane, or anastrazole * Current or prior use of Tamoxifen, raloxifene, exemestane or anastrazole * Unable to give informed consent * Prior history of invasive breast cancer, ductal carcinoma in situ or other breast cancers * At high risk due to prior radiation therapy to the chest * Women who are pregnant or breastfeeding * Prior risk reducing or prophylactic mastectomy * Unwilling or unable to provide an email address for study surveys to be sent to * Subject has a known history or any condition or factor judged by the investigator to preclude participation in the study or which might hinder adherence
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Conditions
The condition(s) this trial relates to.
As listed by the trial registrant
The condition terms exactly as the trial's registrant entered them.
Contacts and locations
Locations
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Cleveland Clinic
Cleveland, Ohio, 44195, United States
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Mayo Clinic
Scottsdale, Arizona, 85259, United States
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Mayo Clinic
Jacksonville, Florida, 32224-9980, United States
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Mayo Clinic in Rochester
Rochester, Minnesota, 55905, United States
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Northwestern University
Evanston, Illinois, 60208, United States
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