One in 100 people who have grandparents from Orkney have a gene variant that causes a higher risk of developing breast and ovarian cancer, a study has found. Published in the European Journal of Human Genetics, leading geneticists from the Universities of Aberdeen and Edinburgh have linked a variant in the gene BRCA1 to a historic origin in Westray, Orkney. Currently in Scotland the test is available to those who know of a direct family connection to the gene or have a history of ovarian or breast cancer in their family. Now planning is underway for a small pilot trial organised by NHS Grampian and funded by local cancer charity Friends of ANCHOR, that will offer testing for the gene variant to anyone living in Westray with a Westray-born grandparent, regardless of a family history. If the pilot is successful, the long-term aim is to offer the test to everyone in Scotland with a Westray-born grandparent who wants it. Most breast and ovarian cancers happen due to chance damage to genes. However, some cases are caused in part by inherited alterations which increase the chances that women will get one or both of these conditions. One of the most common of these predisposing genes is BRCA1. Around one in 1,000 women across the UK have a BRCA1 variant giving them a high lifetime chance of developing breast cancer and ovarian cancer. Over many years, the North of Scotland NHS genetics clinic team found the same specific single variant in the BRCA1 gene repeatedly in women from Orkney with breast and/or ovarian cancer. The genetics team used clinical genealogy to show that the patients with the variant linked into one large family with an origin in the Orkney outer isle of Westray. University of Edinburgh scientists, funded by the Medical Research Council, examined genetic data from more than 2000 volunteers with Orkney grandparents in the Orkney Complex Disease Study (ORCADES). The study is part of Viking Genes, a project which aims to discover the genes and variants that influence the risk of disease. They found the BRCA1 variant in 1% of men and women with Orkney grandparents. Many of the ORCADES participants with the variant are not closely related to branches of the family identified in the clinic, but all share historic Westray ancestors. Professor Zosia Miedzybrodzka, Professor of Medical Genetics at the University of Aberdeen, is Director of the NHS North of Scotland Genetic Service based within NHS Grampian in Aberdeen and has run the Orkney genetic clinic for over 20 years. She said: “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. “Many people who have the gene alteration are unaware of it. Not everyone wants to have a genetic test that looks into their future. In the long run we want to make a test available to those with Westray grandparents who want to know if they have the gene variant. “As it is hereditary, the gene variant 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. Men do not need to take any particular action for themselves, but they can pass the gene onto female descendants.” Professor Jim Wilson, Professor of Human Genetics, University of Edinburgh added: “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.” Orcadian Karen Scott was tested for this BRCA1 gene variant following her own cancer diagnosis in 2018. She also works for charity Clan Cancer Support in Kirkwall which provides emotional and practical support to people affected by a cancer diagnosis. She said: “This important medical finding reflects Orkney’s unique heritage. Having personally taken part in this test, I understand the significance of this research for my family and the Orkney community. We must act on this new knowledge to improve our children’s future.” Professor Henry Watson, from the pilot’s funding body Friends of ANCHOR said: “It is clear there is a strong case for offering this targeted testing. The Friends of ANCHOR committee promptly approved the application for funding so that this programme can be rolled out to the Westray population as soon as possible. “This project will give Westray residents who have a grandparent from the island, control over the decision to find out more about their heritage-related risk factors. “On a personal note my maternal grandmother came from Westray and so the outcomes of testing may have implications for my family. This shows why the research impacts beyond Westray.” Professors Miedzybrodzka and Wilson are outlining their findings at a special meeting for local residents only taking place on Westray tonight (Thursday 16 March) at 7.30pm. 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 gram.orkBRCAgene@nhs.scot. 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. A series of FAQs and a short video explainer which outlines the findings of the research will be available to the public, from 6pm on 16 March. It can be found on NHS Grampian’s website: www.nhsgrampian.org/BRCA1 More information on BRCA1 and breast and ovarian cancer in families is available via the NHS and MacMillan Cancer Support. Cancer support and advice is available from CLAN and Friends of Anchor can also provide practical and emotional support. Information about cancer symptoms and how to reduce your chances of getting cancer is available from the NHS Inform website. People worried that they might have cancer should read the advice on NHS Inform and consult their GP. NHS North of Scotland Genetics Service Clinical genetics services for the North of Scotland are based in the Clinical Genetics Centre in Ashgrove House on NHS Grampian’s Aberdeen Foresterhill Campus, and at Raigmore Hospital, Inverness. The multi-disciplinary team offers a comprehensive clinical genetics service for patients from NHS Grampian, NHS Highland, NHS Orkney, NHS Shetland and the northern half of the Western Isles. An important part of their work is education and teaching, and translational genetics-based healthcare research. They provide a clinical diagnostic and counselling service for patients and families affected by or at a risk of inherited disorders. About Clan Cancer Support Clan Cancer Support provides emotional and practical support to people affected by cancer across north-east Scotland, Moray, Orkney and Shetland. Over the last 39 years Clan’s services have grown significantly to address the emotional and social impacts of cancer and include counselling, children and families support and nutrition, health and wellbeing advice. The charity also operates Clan Haven which offers bed and breakfast accommodation near Aberdeen Royal Infirmary, providing affordable accommodation with onsite support for those who have to travel from home to Aberdeen for treatment. For more information please visit: https://www.clancancersupport.org About Friends of ANCHOR Friends of ANCHOR is a cancer and haematology charity that provides support to people living in the North-east of Scotland, including Orkney and Shetland. Founded in 1997, the charity’s aim is to make North-east cancer and haematology care the best it can possibly be, which it does by funding patient-centred wellbeing services, pioneering research, leading-edge equipment and clinical excellence initiatives. Friends of ANCHOR were major funders of Prof Miedzybrodzka’s “North-east Scotland gene machine”; equipment with gene scanning technology which has enabled treatment, diagnosis and prevention of cancer since 2012. The charity is unique in that its operating costs are fully covered by Aberdeen-based company Balmoral Group, freeing up 100% of donations and fundraising for the ultimate benefit of cancer and haematology patients. This article was published on 2024-08-14
