A gene variant which is known to increase the risk of breast and ovarian cancer has been identified in people with Orkney heritage. The researchers al

Breast cancer gene linked to Orkney islands

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2023-03-16 20:00:06

A gene variant which is known to increase the risk of breast and ovarian cancer has been identified in people with Orkney heritage.

The researchers also discovered the specific Orkney gene variant in smaller numbers in genetic testing across the UK and even in the US.

Previous research has found that women from certain ethnic backgrounds, such as Ashkenazi Jews, also have a high rate of a specific BRCA gene variant.

Across the UK about 1 in 1,000 people have a BRCA1 mutation, which can leaves women at a higher risk of ovarian and breast cancer.

The BRCA genes are present in every person, both men and women, but when a fault occurs in one of them it can result in DNA damage and lead to cells becoming cancerous.

Awareness of the faulty gene was raised a decade ago when Hollywood actress Angelina Jolie underwent a double mastectomy after discovering she had a BRCA1 variant.

Identifying this variant - BRCA1 V1736A - is the result of 25 years of clinical research by Prof Zosia Miedzybrodzka, the director of the NHS Grampian Clinical Genetics service.

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