Researchers saved from certain death

Photo courtesy
Richard Beauchamp, aged 60 years, in the company of the doctor who saved her life, George Zogopoulos of the MUHC. He had a rare genetic mutation, but two times more common in Quebec, which caused his pancreatic cancer.

Hugo Duchaine

Saturday, 10 march, 2018 01:00

UPDATE
Saturday, 10 march, 2018 01:00

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A Montreal at the age of only 56 years old was sentenced to death by an aggressive tumor that is inoperable in the pancreas. But quebec researchers have saved by finding the rare genetic mutation responsible for their cancer.

Four years later, Richard Beauchamp feels better than ever, to such an extent that he is training for a first triathlon this summer.

“This is a second chance,” says the 60-year old man.

“[The doctor] had told me that I would no longer be as before, and he was right. I’ve become a better man both physically and inwardly. It is a lesson of life, ” says Mr. Beauchamp, adding to have had an incredible luck that he did not intend to waste it.

Detected in December 2013 because of a bad back, his tumor had almost doubled two months later. The time was pressing, all the more that only 8% of patients like him live for more than five years.

Ready for anything, he had even sent his file at the prestigious Johns Hopkins Hospital, Baltimore, Usa. But was told that the team that could save his life was… in Montreal !

This team was that of Dr. George Zogopoulos and his colleagues at the Center for research on the Goodman cancer at McGill University. They have investigated the frequency of inherited mutations in four genes, which are recognized as being at the origin of breast cancer, in patients with cancer of the pancreas.

Now diabetic

They were able to identify the mutation of one of these genes, in Richard Beauchamp, the PALB2, which has allowed him to give a targeted therapy.

Not only were they able to reduce the size of the tumor, but the doctors were able to operate and take it away. Previously, it was too big and, more importantly, it used to encircle too much important blood vessels.

However, the doctors had to remove the whole pancreas. As well, Richard Beauchamp is now diabetes, since the pancreas is the organ that produces insulin, allowing sugar to enter the cells of the body to produce energy.

Nevertheless, having to inject insulin and monitor his diet is already better than the dark fate that awaited him, joking today the sexagenarian.

Strong family

Contractor and retailer of carpet, he was able to work again. The father of four adult children, who also has four brothers, has also been found that the disease has brought the family.

His relatives have also all undergone genetic testing to determine if they are at risk as him. This is the case of two of his brothers, and his daughter of 34 years who carry the same mutation, likely to be at the origin of a cancer of the pancreas or breast. They will therefore be monitored more carefully.

Quebecers are more at risk, according to experts

Quebecers are almost two times more at risk of having a genetic mutation causing a cancer of the pancreas, according to researchers from the Centre for research on the Goodman cancer at McGill University.

This is the conclusion of a study conducted by Dr. George Zogopoulos in Montreal. He and his colleagues have examined the frequency of inherited mutations in BRCA1, BRCA2, PALB2 and ATM – known most often as being the cause of breast cancer in patients with pancreatic cancer.

The mutation of the gene BRCA1 is the one that has the actress Angelina Jolie and for which she has revealed to have undergone a double mastectomy in 2013 by prevention.

The researchers found that nearly 8 percent of patients having ancestors the French canadians were carriers of mutations in any of these four genes, compared to approximately 5 % of the general population.

The extensive study was done on 350 patients, of which Richard Beauchamp, that the doctors have saved him from a certain death.

“The founder Effect “

Dr. Zogopoulos explains the prevalence of what he calls ” the founder effect “. This effect occurs when a new population is established by a very small number of individuals from a large population, that is, when the first settlers arrived in New France, ” he says.

The identification of these genetic mutations is very important since the medicine has “failed” in its fight against the highly aggressive pancreatic cancer, according to the researcher.

Chemotherapy, unfortunately, has often little impact on this cancer. However, Dr. Zogopoulos said that with chemotherapy plus targeted, it is possible to damage the DNA of cancerous cells, stopping them from repair, as was the case in the treatment of Mr. Beauchamp.

New study

However, he said that it is possible to have the mutation do not develop cancer, as a cancer of the pancreas can be born without this mutation.

A vast research project the pan-canadian launched this week aims to sequence the tumors of the pancreas of 400 patients in Quebec, Ontario, Alberta and British Columbia. The goal is to better understand the biology of this cancer in order to personalize treatments and to develop new ones.