BRCA1/2 potential founder variants in the Jordanian population: an opportunity for a customized screening panel.

ABSTRACT: A founder variant is a genetic alteration, that is inherited from a common ancestor together with a surrounding chromosomal segment, and is observed at a high frequency in a defined population. This founder effect occurs as a consequence of long-standing inbreeding of isolated populations. For high-risk cancer predisposition genes, such as BRCA1/2, the identification of founder variants in a certain population could help designing customized cost-effective cancer screening panels. This advantage has been best utilized in designing a customized breast cancer BRCA screening panel for the Ashkenazi Jews (AJ) population, composed of the three BRCA founder variants which account for approximately 90% of identified BRCA alterations. Indeed, the high prevalence of pathogenic BRCA1/2 variants amon

SUBMITTER: Ahmad O 

PROVIDER: S-EPMC10316545 | biostudies-literature | 2023 Jul

REPOSITORIES: biostudies-literature