TY  - JOUR
AU  - Ahmad, Olfat
AU  - Sutter, Christian
AU  - Hirsch, Steffen
AU  - Pfister, Stefan
AU  - Schaaf, Christian P
TI  - BRCA1/2 potential founder variants in the Jordanian population: an opportunity for a customized screening panel.
JO  - Hereditary cancer in clinical practice
VL  - 21
IS  - 1
SN  - 1731-2302
CY  - Heidelberg
PB  - Springer
M1  - DKFZ-2023-01342
SP  - 11
PY  - 2023
N1  - #EA:B062#
AB  - 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
KW  - BRCA1 (Other)
KW  - BRCA2 (Other)
KW  - Breast cancer (Other)
KW  - Customized screening panel (Other)
KW  - Founder variants (Other)
KW  - Jordan (Other)
KW  - Population-based screening (Other)
LB  - PUB:(DE-HGF)16
C6  - pmid:37400873
DO  - DOI:10.1186/s13053-023-00256-2
UR  - https://inrepo02.dkfz.de/record/277324
ER  -