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Using Long-Read Sequencing to Reveal Unknown Hereditary Links to Cancer

By November 25, 2024No Comments

The first thing most doctors think about when one of their patients is diagnosed with cancer at a young age or has a strong family history of the disease is that they carry a hereditary predisposition to cancer. Confirming this suspicion has big implications for both the patient and their family members, as targeted therapies and screening protocols can be activated by identifying the mutations that cause cancer.

But despite huge advances in the development of sequencing technologies to identify these hereditary risk factors, traditional DNA sequencing technologies often fail to identify the hereditary mutations responsible for their disease.

 

To change this and bring new hope to these patients, the Terry Fox Research Institute and the Marathon of Hope Cancer Centres Network will be funding a team of researchers, including UBC’s Dr. Marco Marra (Michael Smith Laboratories, Department of Medical Genetics), Intan Schrader (Medical Genetics), Janessa Laskin (Medical Oncology), and Daniel Renouf (Medical Oncology).

The pan-Canadian team, led by Dr. George Zogopoulos at the Research Institute of the McGill University Health Centre, will pilot the use of a new technology known as long-read sequencing to uncover these elusive genetic mutations associated with hereditary cancer.