Inherited Breast Cancer Study


  • Study type

  • Study IDs

  • Describes the nature of a clinical study. Types include:

    • Observational study — observes people and measures outcomes without affecting results.
    • Interventional study (clinical trial) — studies new tests, treatments, drugs, surgical procedures or devices.
    • Medical records research — uses historical information collected from medical records of large groups of people to study how diseases progress and which treatments and surgeries work best.
  • Site IRB
    • Rochester, Minnesota: 14-001806
    • Scottsdale/Phoenix, Arizona: 14-001806
    • Jacksonville, Florida: 14-001806
    Sponsor Protocol Number: 14-001806

About this study

A group of doctors and scientists led by Dr. Fergus Couch at the Mayo Clinic in Rochester, Minnesota, are conducting this study to advance our understanding of how breast cancer is inherited through families. Genetic testing of breast cancer genes is often done to find the cause of breast cancer tracking through families. Testing often identifies deleterious (cancer causing) mutations and Variants of Uncertain Significance (VUS), that may or may not cause breast cancer. Because of uncertainties about the meaning of many of these results, patients and their family members often cannot benefit from the knowledge that they have one of these mutations. In this study we aim to establish the risks of cancer for deleterious mutations and VUS in each of the clinically tested breast cancer genes, so that families and their health care providers can better manage their risk of breast cancer. To answer these questions, we plan to use mutation results from genes currently included on genetic testing panels for breast cancer, along with information on the history of cancer in families and on breast cancer risk factors collected using a questionnaire.

Participation eligibility

Participant eligibility includes age, gender, type and stage of disease, and previous treatments or health concerns. Guidelines differ from study to study, and identify who can or cannot participate. If you need assistance understanding the eligibility criteria, please contact the study team.

See eligibility criteria

Inclusion Criteria:

  • Females and males between the ages of 18 and 90 
  • Family or personal history of cancer and/or a family or personal history of genetic variants (deleterious or variant of unknown significance) in cancer predispotion genes.

Exclusion Criteria:

  • This project does not involve prisoners, or children


Participating Mayo Clinic locations

Study statuses change often. Please contact us for help.

Mayo Clinic Location Status Contact

Rochester, Minn.

Mayo Clinic principal investigator

Fergus Couch, Ph.D.

Open for enrollment

Contact information:

Jodie Cogswell


Scottsdale/Phoenix, Ariz.

Mayo Clinic principal investigator

Fergus Couch, Ph.D.

Contact us for the latest status

Contact information:

Donald Northfelt M.D.


Jacksonville, Fla.

Mayo Clinic principal investigator

Fergus Couch, Ph.D.

Contact us for the latest status

Contact information:

Stephanie Hines M.D.



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