Testing under way for 'faulty' Orkney breast cancer gene

One in 100 people with grandparents from Orkney has a gene mutation that increases cancer risk, scientists believe.

Testing has begun on the Orkney island of Westray for a gene variant linked to a higher risk of developing breast and ovarian cancer.

It comes after a study which was published earlier this year which found that one in 100 people with grandparents from Orkney has a gene mutation that increases the risk of the cancers.

The variant in the gene BRCA1 was linked to a historic origin in Westray by geneticists from the Universities of Aberdeen and Edinburgh, with the findings published in the European Journal of Human Genetics in March.

Now, a small pilot trial organised by NHS Grampian and funded by the Westray Development Trust is offering testing for the variant to anyone living in Westray with a Westray-born grandparent.

“When the link to the variant was discovered, the news had a deep impact on our small community,” said Gina Rendall, operations manager at the Trust, who is among those planning to take part.

“As a trust we are delighted to offer the funding which means that members of our community can be tested and supported by [Professor] Zosia’s team.

“I’m really proud to be from Westray and of the trust’s pledge to support the pilot.”

Zosia Miedzybrodzka, professor of medical genetics at Aberdeen and director of the NHS North of Scotland Genetic Service, led the research that established the Westray link with Professor Jim Wilson from Edinburgh.

“The NHS Grampian genetics clinic and lab teams are delighted to offer this pioneering new service to Westray residents which will improve care and save lives,” said Prof Miedzybrodzka.

“I am grateful to every single person that has made this pilot happen. We are setting up a system that will hopefully extend to the rest of Orkney and Scotland as soon as funding allows.”

Residents with a Westray-born grandparent who wish to be tested can pick up a kit from the local GP Practice or from the Westray Development Trust office.

Completed saliva kits should be returned to the practice, which will send them on to the laboratory at NHS Grampian’s Aberdeen Foresterhill Campus.

Anyone found to have the variant will be offered a rapid-access genetic counselling video call or telephone appointment to access ongoing specialist care, support and testing of relatives resident in Scotland.

If the pilot is successful, the long-term aim is to offer the test to everyone in Scotland with a Westray-born grandparent, then to assess which more distant relatives should be offered a test.

Currently in Scotland, the test is only available to Westray residents, those who know of a direct family connection to the BRCA1 gene or have a significant history of ovarian or breast cancer in their family.

Around one in 1,000 women across the UK has a BRCA1 variant, giving them a high chance of developing breast cancer and ovarian cancer.

Hollywood star Angelina Jolie underwent a double mastectomy after she discovered she carries a faulty copy of the BRCA1.

She lost her mother to ovarian cancer and carrying the faulty gene put her at very high risk of getting both forms of the disease.

Professor Nick Fluck, medical director for NHS Grampian, said: “Our genetic counselling team has done an outstanding job of fielding more than 1,000 calls and emails about this important new discovery, and the roll-out of further testing will mean our researchers will continue to contribute to world-leading knowledge in this field.”

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