Every human being, male or female, carries BRCA 1 and 2 genes. When there’s a mistake in the instruction of these genes, they lose their ability to help protect the body from developing cancer.
Women with BRCA 1/2 mutations have a 40 to 66 per cent chance of breast cancer — up from 10 to 12 per cent in the general population.
The risk for ovarian cancer is also heightened. Up to 46 per cent of women with BRCA 1/2 mutations develop ovarian cancer, depending on the type of mutation, compared to 1.5 per cent in the general population.
The Gauthier family is unfortunately too familiar with cancer. In 2005 Joan Gauthier was floored by a diagnosis of breast cancer.
She knew of no one in her family with cancer. She regularly checked her breasts for little pea-sized lumps like she’d been taught at her doctor’s office, yet her cancer was diagnosed larger than any pea and felt nothing like one.
Still, Joan and her husband, Yves, felt some relief. Genetic tests showed Joan carried no gene mutations that put their three teenage daughters at a heightened risk for developing the same disease.
And so, it came as a shock to the family nearly a decade later when they discovered their daughters could, indeed, be carrying those gene mutations — through their father’s side of the family. Yves’ sister, following a diagnosis of ovarian cancer, tested positive for mutations in the BRCA 2 gene.
The Gauthier sisters decided to undergo genetic testing, knowing it was a game of chance as to who had the mutation and who did not. Results showed Emily and Christiane carried the BRCA 2 gene mutation. Maddie did not.
While it’s not easy for a family to learn that they have this elevated risk, the knowledge helps direct screening in people who have not yet been diagnosed with cancer.
It can be the difference between catching cancer early or late.
Genetic testing allows people to be proactive instead of reactive.
To read the full story and learn more about genetic testing visit: https://myleapmagazine.ca