Distinctive cancer-causing variant found in families from Orkney

Discussion in 'Other health news and research' started by Andy, Apr 7, 2023.

  1. Andy

    Andy Committee Member

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    "The origin of a distinctive BRCA1 gene variant has been found during the Orkney islands disease study, ‘Orcades’

    A BRCA1 gene variant that increases the risk of breast and ovarian cancer originates from the Orkney islands, according to research published last month in the European Journal of Human Genetics. The discovery of this type of ancestral link is among the first of its kind in the UK, and could have health implications for people with grandparents from the Scottish islands.

    What is a BRCA1 variant?
    BRCA1 is a gene that significantly affects a person’s risk of developing some types of cancer. It
    encodes a protein that helps repair breaks in chromosomal Deoxyribonucleic acid (DNA), thus protecting cells from accumulating genetic variants that could lead to cancer. If a person has a variant in their BRCA1 gene then the resulting protein can be less effective or may not even work. As such, that person’s chances of developing cancer increase. There are many different points within the gene where pathogenic genetic variants can arise, and some variants raise the cancer risk more than others.

    Pathogenic variants in the BRCA1 gene are associated with increased risk of breast cancer and ovarian cancer. According to the NHS, carrying a single faulty copy of the gene means that a woman has a 65%–79% chance of developing breast cancer and a 36%–53% chance of developing ovarian cancer in her lifetime.

    “Developing cancer is not solely down to carrying the BRCA1 variant alone,” points out NHS North of Scotland genetic service’s director Professor Zosia Miedzybrodska. “There are many complex factors, and some people with gene alterations will not get cancer.”"

    https://www.genomicseducation.hee.n...ausing-variant-found-in-families-from-orkney/
     
  2. Andy

    Andy Committee Member

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    Testing begins in Orkney for breast cancer gene variant

    "Genetic testing has begun on the Orkney island of Westray for a gene variant linked to a higher risk of breast cancer.

    A landmark study found one in 100 people with Orcadian grandparents had a specific mutation of the BRCA1 gene."

    https://www.bbc.co.uk/news/uk-scotland-66068544
     
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  3. Milo

    Milo Senior Member (Voting Rights)

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    Thing is, there is breast cancer associated with BRCA1 all around the world. Even in family history of breast cancer, testing for the gene variant for their offspring is not automatic or permitted unless you are diagnosed with breast cancer yourself.

    So I do not see in which way this info is useful.
     
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  4. Andy

    Andy Committee Member

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    Have you not read the article linked in the following post?
     
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  5. Milo

    Milo Senior Member (Voting Rights)

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    I had not, but I did (the article, not the paper) and still stand by my comments.
     
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