TRANSCRIPT

Clinical case study meets population cohort
Identification of a BRCA1 pathogenic founder variant in Orcadians
Nature, European Journal of Human Genetics
Publication led by the University of Edinburgh

2088 ORCADES study participants
of multiple Orkney, Scotland generations

Data showed a BRCA1 Gene variant, V1736A
In 13 males and 7 female carriers

~1% Orcadians have the variant
Higher than other populations