Andy
Retired committee member
"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/
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/