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Genetic Testing

Patients with a new diagnosis of breast cancer benefit from testing certain genes (“genetic testing”) for a change (“also referred to as a pathogenic variant”) that may have predisposed them to developing cancer. The most common pathogenic variants are found in the genes BRCA1, BRCA2 and PALB2. When someone has a pathogenic variant in BRCA1, BRCA2, PALB2 or other genes, they and their blood-relatives have an up to 70% lifetime risk of developing breast cancer, as well as ovarian cancer and other types of cancers. For the patient, genetic testing results can influence their choice of breast surgery, access to specific treatments, and other preventive surgeries. Testing relatives (referred to as “cascade testing”) can also change recommendations for screening or prevention in family members without cancer. We have designed a new program called “breast oncology initiated genetic testing” (BRIGHT) to streamline testing so results are available to patients, families, and their doctors faster. We will also study the impact on cost and patient satisfaction with how genetics information and results are conveyed to patients in this program.

Criteria for Mainstream Genetic Testing:

1) Breast cancer diagnosed before or at 50 years old; 
2) Triple negative breast cancer at any age; 
3) Breast cancer in a male at any age; 
4) Contralateral breast cancer with a first primary diagnosed before or at 50 years old; 
5) Breast cancer AND at least one grandparent of Ashkenazi Jewish descent; 
6) Breast cancer AND testing requested to aid in systemic treatment decisions for PARP inhibitor eligibility; 

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If patients do not meet the above criteria but are being seen by a JGH oncologist who believes they would benefit from genetic testing, standard referrals can be made to the cancer genetics team for counselling and to evaluate eligibility. 

Do you have other questions?

If you are a JGH patient who has been offered genetic testing and has questions or concerns about testing, you may contact a genetic counsellor by phone: (514) 934-1934 (ext 38787)

For diagnostic breast imaging and biopsy (CRID) referrals, please fax imaging requisitions to: (514) 340-7942

Download our imaging requisition here

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For breast surgery or high risk breast clinic referrals, please fax consultations to: (514) 340-8302

© 2021 JGH Breast Clinic

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