Usher Institute

Orkney cancer gene link revealed

People with grandparents from Orkney have a variation in a gene that could increase the chances of developing breast and ovarian cancer, research shows.

One in 100 women who are descendants of families in Westray, Orkney, have the same change in the BRCA1 gene - one of the commonest genes linked to breast and ovarian cancer, according to the results,

In Scotland, testing is currently available to people with a direct family connection to the BRCA1 gene, or who have a close history of ovarian or breast cancer in their family.

As a result of these findings, plans for a pilot trial to widen testing to Westray people with a locally born grandparent, regardless of a family history of cancer, are being put in place by NHS Grampian and local cancer charity Friends of ANCHOR.

If the pilot proves successful, it may be extended to anyone in Scotland with a Westray-born grandparent.

Gene variant

Around one in 1000 women across the UK have inherited a variation to the BRCA1 gene. A team of geneticists from the Universities of Aberdeen and Edinburgh repeatedly discovered the same single change to this gene in women from Orkney with breast and/or ovarian cancer.

Edinburgh Scientists studied genetic information from more than 2,000 volunteers with Orkney grandparents in the Orkney Complex Diseases Study (ORCADES). They discovered the BRCA1 variant in 1 per cent of men and women with historic Westray ancestors.

As the gene variant is hereditary can affect multiple members of families. Risk-reducing surgery, breast screening with MRI from age 30 and lifestyle advice can all improve health for women with the gene, experts say.

The findings are published in the European Journal of Human Genetics. This research, funded by the Medical Research Council, is part of Viking Genes, which aims to discover the genes and any changes in these that could influence the risk of disease.

The fact that one in a hundred Orcadian women carry a high-risk variant for breast and ovarian cancer highlights the value of population studies such as Viking Genes, without which we would not know this. It is imperative that Scottish island populations are represented in research, to allow equitable delivery of genomic medicine across the country.

Professor Jim WilsonProfessor of Human Genetics, University of Edinburgh

 Developing cancer is not solely down to carrying the BRCA1 variant alone. There are many complex factors, and some people with gene alterations will not get cancer. However, we know that testing and the right follow-up can save lives.”

Professor Zosia MiedzybrodzkaProfessor of Medical Genetics at the University of Aberdeen and Director of the NHS North of Scotland Genetic Service at NHS Grampian

NHS Grampian genetics clinic is running a helpline for queries about the gene variant linked to breast and ovarian cancer for those who have grandparents from Orkney. The number to call is 01224 553940. Email enquiries can be directed to GPs will not be able to assist with gene testing and any questions about this research and next steps should be directed to the helpline.

The Edinburgh Medical School hosted an Instagram Live from 3pm on 17 March with Professor Jim Wilson where he discussed new research findings and answer questions from the public. 

Visit Edinburgh Medical School on Instagram

Related links