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New research reveals Orkney BRCA gene link

17 March 2023


A new study, published in the European Journal of Human Genetics, has found that one in 100 people who have grandparents from Orkney, Scotland have the BRCA1 gene fault that increases the risk of developing breast and ovarian cancer

Marie-Claire Platt, Head of Policy & Research at Ovarian Cancer Action said “This is hugely exciting research, adding to our understanding of who is at highest risk of carrying a BRCA gene fault. Most importantly it is fantastic to see a pilot already being planned to roll out testing for the Westray population. This will undoubtably prevent future BRCA related cancers and save lives.”  

The study was part of Viking Genes, a project which aims to discover the genes and variants that influence the risk of disease, was led by geneticists from the Universities of Aberdeen and Edinburgh. The genetics team used clinical genealogy to show that the patients with the BRCA1 variant linked into one large family with an origin in the Orkney outer isle of Westray.  

Everyone has BRCA1 (BReast Cancer 1) genes, which we inherit from our parents. They are tumour suppressor genes which prevent cells from growing and dividing too rapidly. A fault in the BRCA1 can increase the lifetime risk of breast cancer up to 85% and ovarian cancer up to 65%. 

University of Edinburgh scientists, funded by the Medical Research Council, looked at genetic data from more than 2000 volunteers with Orkney grandparents in the Orkney Complex Disease Study (ORCADES). The genetics team found the BRCA1 variant in 1% of men and women with Orkney grandparents. Many of the studies participants with the variant were not closely related to branches of the family identified in the clinic, but all share historic Westray ancestors. 

Currenting genetic testing is available in Scotland to those who know of a direct family connection to the BRCA gene fault or have a history of ovarian or breast cancer in their family. However, plans are now being developed for a small pilot trial organised by NHS Grampian and funded by local cancer charity Friends of ANCHOR, that will offer genetic testing for the BRCA gene fault to anyone living in Westray with a Westray-born grandparent, regardless of a family history. If successful, the long-term aim of the pilot is to offer genetic testing to everyone in Scotland with a Westray-born grandparent who wants it. 

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