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Gene mutation increasing breast and ovarian cancer risk linked to Orkney Islands | UK News

March 17, 2023

A gene mutation that increases the risk of breast and ovarian cancer has been linked to people of Orkney heritage.

Scientists from the Universities of Aberdeen and Edinburgh have found that one in 100 people has grandparents from the islands off the north east coast Scotlandhave a mutation in the BRCA1 gene.

It’s likely that the gene variant came from one of the founding members of Westray — an Orkney island of fewer than 600 people — at least 250 years ago, the research says.

The gene mutation has been repeatedly detected in Orkney women who have it Cancermost of whom could trace their family lineage back to the small island of Westray.

As a result of the findings, planning is underway to offer free testing for the gene variant to anyone living in the Scottish Isles with a Westray-born grandparent, regardless of their family history with the disease.

Professor Zosia Miedzybrodzka, director of the NHS North of Scotland Genetic Service, made it clear that it is not just because you carry the BRCA1 variant that you get cancer.

What is a BRCA1 gene?

Genes are found in every cell in our body. They allow the body to grow and function properly.

BRCA1 is a tumor suppressor gene that the NHS says helps protect us from developing cancer.

A variation can affect the function of the gene. This can increase the likelihood of developing breast, ovarian or prostate cancer, which are more likely to occur at a younger age.

A person’s genes can be checked using a blood sample. Currently, however, it’s usually only offered to families with a strong history of cancer.

Everyone has the BRCA genes, but not everyone has mutations in them.

“There are many complex factors, and some people with gene changes will not get cancer,” said Prof. Miedzybrodzka. “However, we know that testing and the right follow-up care can save lives.”

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She recommended things like risk-reducing surgeries, breast screening with MRI for those in their 30s and lifestyle advice to improve the health of women with the gene mutation.

Awareness of the faulty gene has been raised in the Hollywood actress Angelina Jolie underwent a double mastectomy a decade ago after losing her mother to ovarian cancer and then discovering she had a BRCA1 variant.

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The NHS recommends speaking to your GP if there is a family history of cancer or if you are concerned about your own risk. They can refer you for a genetic test that will tell you if you have inherited any of the cancer risk genes.

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