Genes and cancer: a close relationship

Between 10-20 per cent of men with prostate cancer can trace their diagnosis back to a gene mutation they inherited from their parents. One such gene is BRCA2. Every man and woman has a BRCA2 gene, but when it is changed, or mutated, their risk of developing breast, ovarian and prostate cancer increases.

Studying these genetic mutations passed on through generations is important. “By looking at genes like BRCA2, we can find men who are at higher risk of prostate cancer. We can then help with early detection, prevention and personalized treatments,” says Dr. Danny Vesprini, a radiation oncologist at Sunnybrook Health Sciences Centre. “We can also understand how cancers become more aggressive. This in turn could help us treat all men, not just the ones who have an inherited mutation.”

Dr. Vesprini, who is also an Assistant Professor at the University of Toronto, has been researching the relationship between genes and prostate cancer for 22 years. “Studying prostate cancer in men who have mutations in their BRCA2 gene gives us clues to fight other cancers that have similar mutations,” he says. 

“If you can show that it works in one situation, you can then use the solution for other, similar situations and cure more men with aggressive cancer.”

Finding the right treatment for each man

Dr. Vesprini hopes his research will provide evidence that all men with prostate cancer should be considered for genetic testing – soon after being diagnosed. This way, doctors can better personalize their treatment.

“If you have a mutation in gene X, you get X treatment. If you have a mutation in gene Y, you get Y treatment. And maybe if you have a mutation in gene Z, neither of those treatments will work, so we need to figure something else out,” he explains.

Using technology

Aside from his work on genetics, Dr. Vesprini has an ongoing trial looking at whether MRI (magnetic resonance imaging) scans should be used as an early tool to catch prostate cancer in men with BRCA2 gene mutations. MRI uses magnet and radio waves to paint a detailed picture of internal organs in the body using a computer. Doctors are already doing this for women with genetic mutations who have a high chance of developing breast cancer.

“We’re hopeful MRI could catch the disease before it becomes aggressive, giving men who would otherwise have a poor prognosis hope that their cancer has been caught early.”

Turning research into action

Dr. Vesprini and genetic counsellor Justin Lorentz are working directly with patients to take research from the lab, and translate it into clinical practice.
 

“I love that the research I’m doing is with gracious study volunteers who have agreed to be involved,” Dr. Vesprini says. “The majority are my patients. It’s inspiring to be working on something that affects them every day, and someday, hopefully, we will change things for them personally and all men that this research applies to.”

One such patient is Mark, who, after he found out he carries the BRCA2 gene mutation, has been seeing Dr. Vesprini and Lorentz once a year for 4 years. Mark’s family has a history of cancer: His grandmother, mother and aunt all died young from breast cancer when there were no genetic tests. 

Once genetic screening became available, Mark was tested to determine if he was at higher risk of certain cancers. Armed with the knowledge that he is at higher risk, he and his medical team now closely monitor his health. He started with an MRI as part of Dr. Vesprini’s trial. Now, his PSA levels are regularly tested, and he undergoes routine digital rectal exams. Knowing that he’s at higher risk of developing prostate cancer hasn’t changed Mark’s mentality: “Some people diagnosed with the BRCA2 gene mutation are emotionally affected and might constantly think about the worst that could happen. I’ll be honest – I don’t,” says Mark.

“I’m probably checked out more often than others who don’t have that gene mutation. As a result, I’m probably safer than the average person on the street because I have my health monitored out of routine,” he says. “It’s a matter of making the time and looking after yourself. If anything, I just fit it into my schedule.”
 

Funding this research

Prostate Cancer Canada’s donors have been supporting Dr. Vesprini’s work since he began his career as an independent clinician-investigator in 2008. With his first grant, he developed a database of men with BRCA gene mutations, which has grown into a larger project to find genetic clues for aggressive disease.

“Donors are the reason we can continue to translate our passion into knowledge and progress,” says Dr. Vesprini. “We’re so privileged to live in a society where people will donate their money so that someone they don’t know – me – can do research on something they may not fully understand – genetic mutations – that may help people they don’t know – men living with prostate cancer in the future.”

“This selfless help of others is why researchers including myself approach our work with such responsibility and respect. I’m looking forward to updating our supporters on what comes next!”