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Gene mutation which increases risk of breast and ovarian cancer linked to Orkney islands | UK News

A gene mutation which increases the risk of breast and ovarian cancer has been linked to people with Orkney heritage.

Scientists from the universities of Aberdeen and Edinburgh have found that one in one hundred people with grandparents from the islands off the north-eastern coast of Scotland, have a mutation of the gene BRCA1.

It is likely the gene variant came from one of the founding members of Westray – an Orkney island which has a population of under 600 people – at least 250 years ago, according to the research.

The gene mutation was repeatedly spotted in women from Orkney who have the cancers, most of whom could also trace their family ancestry back to the small island of Westray.

As a result of the findings, planning is under way to offer free testing for the gene variant to anyone living on the Scottish islands with a Westray-born grandparent, regardless of their family history with the disease.

Professor Zosia Miedzybrodzka, director of NHS North of Scotland Genetic Service, made it clear that developing cancer is not solely down to carrying the BRCA1 variant alone.

What is a BRCA1 gene?

Genes are found in every cell in our body. They enable bodies to grow and function correctly.

BRCA1 is a tumour suppressor gene that helps to protect us from developing cancer, according to the NHS.

A variation can affect the function of the gene. This can increase the chance of developing breast, ovarian or prostate cancer, which is more likely to occur at a younger age.

A person’s genes can be examined from a blood sample. However, currently, it is usually only offered to families with a strong history of cancers.

Everyone has the BRCA genes, but not everyone has mutations in them.

“There are many complex factors, and some people with gene alterations will not get cancer,” Prof Miedzybrodzka said. “However, we know that testing and the right follow-up can save lives.”

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She recommended things like risk-reducing surgery, breast screening with MRI from the age of 30 and lifestyle advice to improve the health of women with the gene mutation.

Awareness of the faulty gene was raised when Hollywood actress Angelina Jolie underwent a double mastectomy a decade ago, after losing her mother to ovarian cancer and then discovering she had a BRCA1 variant.

The NHS recommends talking to your GP if cancer runs in the family, or if you are worried about your own risk. They may refer you for a genetics test, which will tell you if you have inherited one of the cancer risk genes.

Gene therapy cuts risk of bleeding in haemophilia B patients, study finds | UK News

A new gene therapy can substantially cut the risk of bleeding in people with the rare condition haemophilia B, according to a new study.

Researchers found people who received a single injection of the gene therapy, called FLT180a, did not need to inject themselves every week with clotting factors – proteins that help control bleeding.

Haemophilia is a rare condition that impacts the blood’s ability to clot.

It is typically inherited and mainly affects men.

People with the condition lack clotting factors, which mix with blood cells called platelets to stop bleeding after cuts and injuries.

They can still suffer debilitating joint damage – a consequence of the condition – even with the weekly injections currently available.

Haemophilia A is caused by a lack of factor VIII and is more common, while haemophilia B is caused by a deficiency of factor IX.

In a new 26-week trial led by the Royal Free Hospital, University College London and biotechnology company Freeline Therapeutics, experts found that a single treatment with FLT180a led to sustained production of the protein from the liver in nine out of 10 patients with severe or moderately severe haemophilia.

Lead author Professor Pratima Chowdary, from UCL, said: “Removing the need for haemophilia patients to regularly inject themselves with the missing protein is an important step in improving their quality of life.

“The long-term follow-up study will monitor the patients for durability of expression and surveillance for late effects.”

Patients on the trial had to take immune suppressing drugs over several weeks to several months to keep their immune systems from rejecting the treatment.

While the therapy was generally well received, all patients experienced side effects.

One who received the highest FLT180a dose developed an abnormal blood clot.

Professor Amit Nathwani, who co-founded Freeline, a company focused on liver-directed gene therapies, said: “Gene therapy is still a young field that pushes the boundaries of science for people with severe genetic diseases.”

He said the trial, which was published in the New England Journal of Medicine, adds to “the growing body of evidence that gene therapy has the potential to free patients from the challenges of having to adhere to lifelong therapy or could provide treatment where none exists today”.