Clinical case study meets population cohort: Identification of a BRCA1 pathogenic founder variant in Orcadians
Shona M. Kerr, Emma Cowan, Lucija Klarić, Christine Bell, Dawn O’Sullivan, David Buchanan, Joseph J. Grzymski, Cristopher V. Van Hout, Gannie Tzoneva, Alan R. Shuldiner, James F. Wilson, Zosia Miedzybrodzka
The paper identifies a BRCA1 founder variant in Orcadians and estimates its high prevalence, suggesting population screening for this variant.
European Journal of Human Genetics · Mar 16, 2023Peer-reviewedGenetic & Genomic Medicine