%0 Journal Article
%A Ahmad, Olfat
%A Sutter, Christian
%A Hirsch, Steffen
%A Pfister, Stefan
%A Schaaf, Christian P
%T BRCA1/2 potential founder variants in the Jordanian population: an opportunity for a customized screening panel.
%J Hereditary cancer in clinical practice
%V 21
%N 1
%@ 1731-2302
%C Heidelberg
%I Springer
%M DKFZ-2023-01342
%P 11
%D 2023
%Z #EA:B062#
%X 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
%K BRCA1 (Other)
%K BRCA2 (Other)
%K Breast cancer (Other)
%K Customized screening panel (Other)
%K Founder variants (Other)
%K Jordan (Other)
%K Population-based screening (Other)
%F PUB:(DE-HGF)16
%9 Journal Article
%$ pmid:37400873
%R 10.1186/s13053-023-00256-2
%U https://inrepo02.dkfz.de/record/277324