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Hereditary Breast Cancer Treatment Study

The Familial Breast Cancer Research Unit at Women’s College Hospital is conducting a research study to better understand breast cancer treatment among people with PALB2, ATM and CHEK2 gene mutations.

Research shows that mutations in PALB2, ATM, and CHEK2 increase the risk of developing breast cancer. However, it remains unclear how to best treat or reduce the risk of breast cancer in women with these mutations. Gaining more knowledge about breast cancer in patients with PALB2, ATM, or CHEK2 mutations will help to better understand:

  • The most effective treatment for individuals with a PALB2, ATM, or CHEK2 mutation and breast cancer to increase survival chances
  • Whether patients with PALB2-, ATM-, or CHEK2-associated breast cancer are at increased risk of developing a new breast cancer
  • The best strategies for managing cancer risks in healthy family members who carry a PALB2, ATM, or CHEK2 mutation (through screening, preventive surgery, etc.)

By gaining a better understanding of hereditary breast cancer, we can personalize treatment to improve survival rates and identify the best strategies for managing at-risk family members, helping to detect cancer early or prevent it.

You are eligible to participate in this study if you meet all of the following criteria:

  • You have a pathogenic or likely pathogenic mutation in PALB2, ATM, or CHEK2
  • You were diagnosed with breast cancer in 2000 or later
  • Breast cancer was your first cancer diagnosis
  • You were assigned female sex at birth
  • You can read and understand English

If you choose to participate, you will be asked to:

  • Complete a consent form indicating your willingness to participate
  • Provide contact information for yourself and an alternate contact
  • Complete a questionnaire about your breast cancer at the start of the study, as well as follow-up questionnaires every two years for 10 years to track any changes in your health (a total of six questionnaires)
  • Provide information about your family history
  • Grant permission for the study to collect your medical records, including genetic test results and information related to your cancer diagnosis and treatment

All study forms can be completed from home, either online or through the mail. You will not be asked to come into the hospital for any in-person visits.

How to get more information:

If you are interested in participating or would like to learn more about the Treatment Study, please: