A pancreatic cancer survivor's French-Canadian genes held the clue that helped save his life

Story transcript

When Richard Beauchamp was diagnosed with pancreatic cancer in 2014, he was told it was inoperable and that he would likely die within a year.

It's a common story for pancreatic cancer patients. The aggressive disease produces few early symptoms, and by the time doctors diagnose it, it's usually too late.

"It made a little shock inside, that's for sure," the Montreal man told As It Happens host Carol Off.  "But I put myself in solution mode: What should I do? What should I change?"

Three years later, Beauchamp is happy, healthy and cancer-free.

And it's thanks in part to his French-Canadian genes — and a $5-million pan-Canadian study.

• Quirks & Quarks: The cancer that killed CBC's Arthur Black
• Pancreatic cancer survivor hits milestone

In searching for a solution, Beauchamp discovered the study, funded by the Terry Fox Research Institute, called Enhanced Pancreatic Cancer Profiling for Individualized Care (EPPIC).

EPPIC aims to sequence the tumours of pancreatic cancer patients across the country and provide personalized treatment based on their particular subtype of the disease.

They aim to test 400 patients in Quebec, Ontario, Alberta and British Columbia over the next five years.

"They have an opportunity for a personalized medicine — what we call targeted therapies — and they may have the same clinical outcome as Richard had," said EPPIC co-principal investigator Dr. George Zogopoulos, a pancreatic surgeon at the McGill University Health Centre.

"He went from an inoperable, incurable cancer to something that was operated, and he's alive and cancer free 3.5 years later."

The French-Canadian connection 

Beauchamp had his tumour sequenced through EPPIC and learned he has a rare hereditary mutation that occurs only in French-Canadians.

"What really helped with Richard was our ability to really understand his cancer," said Zogopoulos, who helped treat Beauchamps.

"That gave us encouragement that the type of chemotherapy we picked for Richard would work to control his cancer and hopefully even shrink the cancer and bring him to the point where I could offer him surgery."

Beauchamp's genetic mutation was one of four that Zogopoulos and his colleagues had pinpointed in an earlier study as a major cause of pancreatic cancer in French-Canadians.

Their study, published in the journal Precision Oncology, found eight per cent of French-Canadians with pancreatic cancer had these mutated genes. 

That's because of something called the founder population effect — the loss of genetic variation that happens whenever new population is established by a small number of individuals from a larger population.

Similar mutations linked to cancer have previously been found in Ashkenazi Jewish population, Zogopoulos said.

By screening French-Canadians for the mutation, Zogopoulos said doctors could help more patients with targeted treatments.

And by screening patients' family members for similar genes, doctors could catch some cancers early enough to treat.

"Even though it's only eight per cent of patients who will benefit from this genetic test, we think these eight per cent of patients will benefit tremendously in the context that we're having a very difficult time fighting this cancer with their current approaches," he said.

Better than ever

In Beauchamp's case, doctors were able to tailor chemotherapy to attack the specific pancreatic cancer subtype that he had.

Eventually, they shrunk it enough to operate and remove the tumour. 

The whole time, Beauchamp said, he knew he was "being taken care by good hands."

"I was working on my side too — inside, spiritually, positively. I knew that could help too," he said.

"I feel even better than I was before."