Orkney will start testing for breast cancer gene variants

Profesjonalista Zosia Miedzybrodzka

On the island of Westray in Orkney, genetic testing for a gene variant associated with an increased risk of breast cancer has started.

According to a seminal study, one in 100 people with Orcadian grandparents had a particular BRCA1 gene mutation.

The majority of them, according to research, can be traced to Westray, a town with a 600-person population.

The test for the gene variant is made available to every adult on Westray who has grandparents who are from the island.

There are numerous additional BRCA gene variants that can increase a woman's risk of developing ovarian and breast cancer.

However, the Orkney variant BRCA1 V1736A is thought to be the first in the UK to be linked to a specific geographic ancestor.

One of the first individuals taking part in the testing program is Gina Rendall, operations manager at the Westray development Trust.

"It is crucial that testing is implemented; we are only a small part of the puzzle overall," she said.

"In this case, having knowledge is power because it enables you to make an informed decision about your long-term healthcare needs.

There are many anxious people out there; if we can prevent this, it will save money and lives. ".

One of the first people to participate in the plan will be Gina Rendall.

The testing program will receive £15,000 from the Westray Development Trust.

"The news had a profound impact on our small community when the link to the variant was discovered," Ms. Rendall continued.   .

"The Trust's promise to support the pilot makes me incredibly proud to be from Westray. ".

A group of geneticists traveled to Westray earlier this year to inform the locals about the gene and the initiatives to provide testing and assistance.

Zosia Miedzybrodzka, professor of genetics at Aberdeen University and head of the NHS North of Scotland Genetic Service, spent 25 years studying the variant before discovering it.

Lighthouse powered with solar energy, Westray, Orkney islands, Scotland - stock photo
The Orkney connection, according to researchers, originated from a single founder on the island of Westray hundreds of years ago.

We emphasized that this gene alteration began about 400 years ago in Westray, according to Prof. Miedzybrodzka.

It won't have been free, though. That may have been frightening, overwhelming, or even a little upsetting to some people.

"What we are offering is the chance for individuals to take charge of their future by taking preventative healthcare measures. ".

In order to expand the testing to other people in Orkney and the rest of Scotland, Prof. Miedzybrodzka says she wants the testing to be successful.

Everybody, both men and women, has BRCA genes, but if one of them has a flaw, it can cause DNA damage and cause cells to develop cancer.

A person's chance of passing on a genetic variant to their offspring is 50%.


Hollywood actress Angelina Jolie's double mastectomy, which she underwent after learning about the BRCA1 variant a decade ago, helped to increase awareness of the defective gene.

According to reports, the surgery lowered her risk of developing breast cancer from 87 to 5 percent.

The NHS cautions, however, that this is not the only option available.

Additionally, it suggests being aware of breast changes. Annual breast exams and MRIs can help detect breast cancer, and lifestyle adjustments like regular exercise and a healthy diet can "sometimes reduce risk.".

It continues that there is currently no trustworthy screening method for ovarian cancer.

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