Publications by authors named "Lesley Snadden"
Article Synopsis
- The study focuses on assessing breast and ovarian cancer risks in the isolated populations of Orkney and Shetland, particularly through identifying genetic variants in the BRCA1 and BRCA2 genes.
- A specific BRCA2 variant (c.517-2A>G) was found to have a significantly higher frequency among individuals with Shetland ancestry, indicating a strong link with breast and ovarian cancer cases in these families.
- The researchers emphasize the potential for targeted genetic screening for this variant in women of Orcadian and Shetlandic descent, as most pathogenic BRCA variants in the region are due to this and another related variant.
Background: The m.3243A>G variant is the commonest mitochondrial (mt) DNA pathogenic variant and a frequent cause of mitochondrial disease. Individuals present with a variety of clinical manifestations from diabetes to neurological events resembling strokes.
View Article and Find Full Text PDFPublished guidelines adopted in many countries recommend that women whose family history of breast cancer places them at a risk>or=1.7 times that of the age-matched general population, should be considered for inclusion in special surveillance programmes. However validation of risk assessment models has been called for as a matter of urgency.
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