BRCA1/2 potential founder variants in the Jordanian population: an opportunity for a customized screening panel
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-...
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| Main Authors: | , , , , |
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| Format: | Article (Journal) |
| Language: | English |
| Published: |
2023
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| In: |
Hereditary cancer in clinical practice
Year: 2023, Volume: 21, Pages: 1-9 |
| ISSN: | 1897-4287 |
| DOI: | 10.1186/s13053-023-00256-2 |
| Online Access: | Verlag, kostenfrei, Volltext: https://doi.org/10.1186/s13053-023-00256-2 Verlag, kostenfrei, Volltext: https://hccpjournal.biomedcentral.com/articles/10.1186/s13053-023-00256-2 
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| Author Notes: | Olfat Ahmad, Christian Sutter, Steffen Hirsch, Stefan M. Pfister and Christian P. Schaaf |
| Summary: | 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 among AJ (~ 2%) has additionally contributed to make population-based screening cost-effective in comparison to family-history-based screening. In Jordan there are multiple demographic characteristics supporting the proposal of a founder effect. A high consanguinity rate of ~ 57% in the nineties of the last century and ~ 30% more recently is a prominent factor, in addition to inbreeding which is often practiced by different sub-populations of the country. |
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| Item Description: | Veröffentlicht: 3. Juli 2023 Gesehen am 22.08.2023 |
| Physical Description: | Online Resource |
| ISSN: | 1897-4287 |
| DOI: | 10.1186/s13053-023-00256-2 |