Breakthrough Geographic Ancestral Link Made Between Breast Cancer & Orkney Islands in New Study
The research carried out by scientists from the Universities of Aberdeen and Edinburgh found that a certain "tumor suppressor gene" that typically guards our bodies from developing cancer had mutated in women residing in a specific geographical location. The "faulty" gene left them susceptible to the disease.
Trailblazing research has linked a certain gene mutation which heightens the risk of breast and ovarian cancer to a specific geographical location – the Orkney Islands. One in 100 people whose grandparents hail back to the archipelago have a gene variant fraught with a higher risk of developing breast and ovarian cancer
, the study carried out by Scottish universities claims.
Furthermore, the mutation of the gene BRCA1 likely originated in an individual on the archipelago's island of Westray, off the north coast of Scotland around 250 years ago.
The North of Scotland NHS genetics clinic team has repeatedly spotted the mutation in women living in the Orkney Islands who have been diagnosed with breast and/or ovarian cancer. The team resorted to clinical genealogy to draw a connection between patients with the variant and an ancestor originating from the outer isle of Westray, with its tiny population of just under 600 people.
The findings have prompted plans to offer free testing for the specific gene mutation for residents of the Scottish islands who boast a grandparent from Westray. While the risk of developing cancer is not exclusively linked to the BRCA1 variant, Professor Zosia Miedzybrodzka, director of NHS North of Scotland Genetic Service, stressed:
"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."
Miedzybrodzka, a professor of medical genetics at the University of Aberdeen, added:
"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. 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."