Northern origin of the BRCA2 c.5286 T > G founder allele

Summary: This study investigates the distribution of BRCA1/2 pathogenic variants in Russian ovarian cancer patients. The most common variant identified was c.5266dup, followed by c.4035del, c.1961del, c.181 T > G, and others. The study also suggests that the c.5286 T > G variant in BRCA2 is a new founder mutation that occurred approximately 700 years ago.

Summary: This study identified a new founder effect mutation in hemophilia A patients from the Ural region of Russia. The patients shared the same haplotype, suggesting a common ancestor from the late 17th century. The Ural region did not experience recent bottlenecks or isolation, indicating that the founder effect may be a natural consequence of population structuring in a relatively stable population.