“My twin sister Nicola got sick when she was 24 years old. It was determined that she had stomach cancer and passed away two months to the day she was diagnosed.”
Natasha Benn lost her sister to a rare and aggressive form of stomach cancer in 1993. Before Nicola, her mother had passed away from the same cancer when Benn was two. So did her grandmother, aunt, and great-grandfather.
“My dad always thought it might be some kind of hereditary component to the type of cancer that my mom had, but it was never confirmed at the time,” Benn said.
Shortly after Nicola's death, a gastroenterologist strongly suggested that Benn undergo surgery to remove her stomach, given the close genetic link between the twins.
Nine months later, the young woman decided to go forward with full gastrostomy, unbeknownst to her if she was carrying the same ailment.
Grieving the loss of her sister and uncertain if she had made the right decision, Benn received news six years later confirming her choice had been the correct one.
After performing a biopsy on the young woman’s stomach, pathologists discovered traces of cancer in the organ’s lining - something that could not have been detected even with an endoscopy.
Little did they know, the Benns, along with another family from Detroit, were part of a groundbreaking discovery that transformed the lives of countless families. For the first time in history, researchers identified a genetic mutation in Natasha’s stomach which they named CDH1. This mutation was found to carry an 83 per cent risk of developing stomach cancer and 60 per cent likelihood of lobular breast cancer.
Thanks to the technological advances and research, organizations like BC Cancer can find this mutation through risk-free, non-evasive, and efficient ways. A simple sample of saliva, or blood, can be all that’s needed to determine if one carries the rogue gene.
“Genetic testing can be helpful in clarifying whether or not you have an increased risk [of cancer] and then determining what's available in terms of screening and prevention for those specific types of cancer,” said Jennifer Nuk, leader in genetic counsellor for the BC Cancer Hereditary Cancer Program.
For decades, identifying hereditary cancer solely relied on analyzing one’s family history, without having certainty if members were carriers of the ailment, explained Nuk. In the early days of genetic testing, means were limited, costly, and slow.
Today, however, researchers can examine more genes than ever before with greater efficiency, at a higher rate, for a fraction of what it once cost.
“We've had families that were seen years ago where it looks like there was something going on in the family… and we didn't find anything,” said Nuk. “Now we go back to test that same family [and] we're actually picking up mutations because the technology has improved so much.”
Though many remain to be studied, Nuk and her team can now detect rogue genes causing numerous cancers including ovarian, breast, and colon.
The lead geneticist added that the services offered by the program are twofold; genetic testing to identify individuals carrying mutated genes, and the provision of personalized care plans for those at increased cancer risk.
“If we can figure out someone's at higher risk… we have a much better chance of offering better outcomes for the patient,” she said.
People are provided with comprehensive information and a range of options, allowing them to make informed decisions about their next steps. As prevention is key to combating cancer, Nuk and her team will discuss and propose to their patients appropriate screening options, such as mammograms or MRIs, as well as preventative measures like vaccines and surgeries suited to their respective conditions.
In turn, Nuk added that if one treatment can be given over another more invasive one, this will ultimately result in a better quality of life for individuals and benefit the overall health-care system.
Since its inception in 1997, the prevention program has not only saved thousands of lives but also reduced health-care costs for taxpayers, freed up time and resources for other cancer patients, and alleviated the burden on B.C.'s hospitals.
Benn and her sisters benefited from this very program.
“My older sister did have the gene and decided to go through with the surgery and had her stomach removed,” she said. “[It] was riddled with cancer and she's still living today.”
Her other sister, luckily, tested negative for the CDH1 mutation.
Benn herself, facing a significant breast cancer risk from possessing the gene, opted for a preventative mastectomy.
Reflecting on her journey, the self-proclaimed “cancer avoider” acknowledges the challenges she faced, including the grief of losing her sister and the uncertainty that followed her surgery. However, she strongly recommends the importance of prioritizing preventative care.
“To have that knowledge and to be willing to [use it] is so important,” said Benn. “I know a lot of people avoid going to the doctor, especially when you might be feeling completely healthy, but you don't know what else is happening in your body.
“Having a screening place that you can go to determine if you have a history of any kind of illness that you can prevent it in advance, why wouldn't you go?”