Gene mutation that increases cancer risk associated with the Orkney Islands

One in 100 people with grandparents from Orkney has a gene mutation that increases the risk of breast and ovarian cancer, researchers said.

The findings by geneticists from the Universities of Aberdeen and Edinburgh were presented to residents of Westray on Thursday evening (March 16), with attendees told that scientists had linked a variant in the BRCA1 gene to the island.

Researchers repeatedly saw the gene variant in Orkney women with the cancers, and clinical genealogy proved that patients with the variant had family roots going back to Westray. It likely originated with a founder of the island at least 250 years ago, according to the paper published in the European Journal of Human Genetics.

Professor Zosia Miedzybrodzka, director of the NHS North of Scotland Genetic Service, said: “Cancerous development is not just due to carrying the BRCA1 variant alone. There are many complex factors and some people with gene changes will not develop cancer.

“However, we know that testing and proper follow-up can save lives.”

Planning is now underway for a pilot programme, organized by NHS Grampian and funded by the Friends of Anchor charity, which will offer testing for the gene variant to anyone living on the tiny Scottish island with a Westray-born grandparent, regardless of family history of the diseases. If the pilot is successful, the long-term aim is to offer a test to anyone in Scotland with a Westray-born grandparent, if they want it.

Prof Miedzybrodzka said that because it is hereditary, the gene variant can affect several family members. She said: “Risk-reducing surgery, breast MRI from age 30 and lifestyle advice can all improve the health of women with the gene.

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