Breast cancer is relatively common in the general population (12% lifetime risk) and the majority of cases occur sporadically. About 5-10% of breast cancer and about 15% of ovarian cancer is due to an inherited gene change. Pathogenic variants in the BRCA1 or BRCA2 genes are the most common cause of hereditary breast and ovarian cancer (HBOC) and BRCA1 and BRCA2 pathogenic carriers have a significant increased lifetime risk for breast and ovarian cancer in addition to other cancers. Risk-reducing surgeries and, for some women, chemoprevention, can reduce mortality from breast and ovarian cancers in both BRCA1 and BRCA2 carriers. Due to the overlap in clinical presentation and the advancement of genomic technology, genetic testing generally involves a large gene panel where several (>7) genes associated with breast/ovarian and other cancers are analysed. 

While not all individuals will qualify for genetic testing, some will qualify for modified cancer screening and a more appropriate relative (the youngest, affected individual) may be offered genetic testing.

Individuals with a personal and/or family history that are at high risk (generally >5%) to carry a pathogenic variant in a hereditary breast/ovarian cancer gene can be offered referral to genetics services for a discussion of the benefits, harms and limitations of genetic testing, while women whose family histories suggest a low risk of a hereditary predisposition can be reassured and offered screening following provincial guidelines. (For more information see the comprehensive GECKO deep dive or the concise GECKO on the run)

Point of care tool to assess risk of Hereditary Breast, Ovarian Cancer Syndrome. (July 2023)

This point of care tool has two parts. Part I of this tool is used to predict which individuals should be referred for genetic counselling due to increased risk for a predisposition to breast or ovarian cancer including but not limited to hereditary breast and ovarian cancer (HBOC) syndrome caused by pathogenic variants in BRCA1 and BRCA2 genes. Part II of this tool contatins a checklist of criteria to identify individuals at high risk for a predisposition to breast and ovarian cancer and who to strongly consider referral for a genetic assessment. While not all individuals will qualify for genetic testing, some will qualify for modified cancer screening and a more appropriate relative (the youngest, affected individual) may be offered genetic testing. 

Links to your provincial breast screening program can be found here.

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