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New study identifies genes linked to breast cancer

Carika Weldon, geneticist and founder of CariGenetics, and Kevin Hughes, of the Bermuda Cancer and Health Centre (Photograph by Owain Johnston-Barnes)

A genetic study of Bermudian women may help to unveil answers to the island’s high cancer rate and support solutions addressing the issue.

Carika Weldon, a geneticist and founder of CariGenetics, told attendees at a lecture on Saturday at Bermuda College that its recently completed study had identified genetic variants in the island’s gene pool linked to increased breast cancer risk.

She added that the study, Decoding Caribbean Breast Cancer using Genomics, also demonstrated the capability of performing genetic testing on the island, potentially reducing costs for the public.

Dr Weldon said that the project looked at the genes of 102 people, all of whom have four Caribbean grandparents.

Of those, half had been diagnosed with breast cancer while the other half had not, nor had their immediate family members.

Dr Weldon said those specifics differentiated the study from a larger study of the Caribbean which included 1,000 women.

“It was across seven countries. These were just women who had breast cancer, aggressive breast cancer,” she said. “They also only had to have one Caribbean grandparent from their country.

“They didn’t have any controls in that study, and it was not as pure as they only needed one Caribbean grandparent. We wanted to be more stringent.

“They also sent all of their samples to the US, and they were only looking at 30 genes. If a new gene comes out and is linked to breast cancer, they can’t look at it.

“One of the reasons why we wanted the full genome was so we have it if anything new comes out.”

Dr Weldon noted that as recently as last Monday a new paper came out in the US that identified 12 new genetic variants linked to breast cancer in African-American women.

“What did I do on Monday night? Look to see if we had that,” she said. “It took me ten minutes because we had everything. Out of the 12, I think two came up in a couple of people.

“It reinforces that even when we say African diaspora, within the diaspora we are unique and different in the different islands.”

Dr Weldon said the study found genetic variations linked to breast cancer in 19.7 per cent of those tested, more than double the 5 to 10 per cent found in the US and Britain.

She said compared with the countries included in the previous Caribbean breast cancer study, only one country had a higher rate of genetic variants linked to the cancer.

“Bahamas is 28 per cent, and we are coming in second at 20 per cent,” she said.

One of the discoveries in the study was genetic mutations linked to the body's mechanisms to address mismatched genes, which was not found in previous Caribbean studies.

“Usually there is a mechanism in our body that comes to fix it and it’s fine, but if you have a mutation in the gene that’s doing the correcting, it is not getting fixed,“ Dr Weldon said.

“If you have mismatches in your DNA, that leads to higher rates of cancer, so this might be what is happening.”

Dr Weldon added that identifying this issue could open the door to additional therapeutic options to address cancer.

“Pharma companies are designing a lot of the chemotherapies against a genetic target, so if you have a mutation they want to know which one so they can give you the treatment that matches that gene,” she said.

“That changes the ballgame not just for us as a community but for the hospital, for pharmacies, for the Ministry of Health, for insurers to know what we need.”

Dr Weldon said CariGenetics has already started to recruit members of the public for the next genetic study, which will focus on genetic markers for prostate cancer.

She said that six of the ten countries with the highest rate of prostate cancer are in the Caribbean, and a lot of Caribbean men have avoided getting tested.

“If we are top of the charts and not getting screened, that means there is a lot going on that we are not seeing, so this is a dire situation” she said.

“If you look at the top ten places where people are dying of prostate cancer, seven of the top ten countries in the world are Caribbean. There is something going on.

“There is a PSA test, where they test for an antigen in the bloodstream. Usually, it should be between zero and four. I went to Trinidad and, speaking to urologists, they said they constantly see men coming in for the first time with a PSA of 300.”

While she said the prostate cancer study is already 70 per cent full, they were still looking for eligible men with four Caribbean grandparents.

Those interested in taking part in the study can visit carigenetics.com/research/#joinourstudy

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Published May 20, 2024 at 7:48 am (Updated May 20, 2024 at 7:54 am)

New study identifies genes linked to breast cancer

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