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.
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.
“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.”
Breast and Ovarian Cancers
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.
The Orkney Genetic Connection
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 Westray, Orkney.
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 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.
“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 in 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
Categories: Local News, Science
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