Date of Award


Document Type

Thesis - Open Access

Degree Name

MS Human Genetics


Human Genetics Graduate Program


Genetic counselling and genetic testing of breast cancer patients can be helpful in estimating recurrence risks and guiding clinical management. Genetic testing results are useful for family members and their medical decisions as well. However, not all breast cancer patients are eligible for genetic counselling, but must meet eligibility criteria in Ontario to be referred. We studied two groups of patients – male breast cancer patients and young female patients aged 35 or under – who make up of a small subset of overall breast cancer patients. These groups should be offered genetic testing irrespective of family history. They could also potentially represent unique genetic profiles, different from the majority of breast cancer patients. Our study showed that the genetic testing uptake rates were 44% for male patients and 60% for young female patients, respectively. Pathogenic mutation rates were 4% for male patients and 25% for young patients, respectively. Our study demonstrated that 1) genetic referral rates and testing rates are low, and 2) pathogenic mutation rates are different from the general breast cancer population.