000277324 001__ 277324
000277324 005__ 20240229155014.0
000277324 0247_ $$2doi$$a10.1186/s13053-023-00256-2
000277324 0247_ $$2pmid$$apmid:37400873
000277324 0247_ $$2ISSN$$a1731-2302
000277324 0247_ $$2ISSN$$a1897-4287
000277324 0247_ $$2altmetric$$aaltmetric:150951326
000277324 037__ $$aDKFZ-2023-01342
000277324 041__ $$aEnglish
000277324 082__ $$a610
000277324 1001_ $$0P:(DE-He78)d22bc86a498d1be5f5e75a7d5d0647e3$$aAhmad, Olfat$$b0$$eFirst author$$udkfz
000277324 245__ $$aBRCA1/2 potential founder variants in the Jordanian population: an opportunity for a customized screening panel.
000277324 260__ $$aHeidelberg$$bSpringer$$c2023
000277324 3367_ $$2DRIVER$$aarticle
000277324 3367_ $$2DataCite$$aOutput Types/Journal article
000277324 3367_ $$0PUB:(DE-HGF)16$$2PUB:(DE-HGF)$$aJournal Article$$bjournal$$mjournal$$s1688460300_5208$$xReview Article
000277324 3367_ $$2BibTeX$$aARTICLE
000277324 3367_ $$2ORCID$$aJOURNAL_ARTICLE
000277324 3367_ $$00$$2EndNote$$aJournal Article
000277324 500__ $$a#EA:B062#
000277324 520__ $$aA 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.This review explains the concept of founder effect, then applies it to analyze published Jordanian BRCA variants, and concludes that nine pathogenic (P) and likely pathogenic (LP) BRCA2 variants together with one pathogenic BRCA1 variant are potential founder variants. Together they make up 43% and 55% of all identified BRCA1/2 alterations in the two largest studied cohorts of young patients and high-risk patients respectively. These variants were identified based on being recurrent and either specific to ethnic groups or being novel. In addition, the report highlights the required testing methodologies to validate these findings, and proposes a health economic evaluation model to test cost-effectiveness of a population-based customized BRCA screening panel for the Jordanian population. The aim of this report is to highlight the potential utilization of founder variants in establishing customized cancer predisposition services, in order to encourage more population-based genomic studies in Jordan and similar populations.
000277324 536__ $$0G:(DE-HGF)POF4-312$$a312 - Funktionelle und strukturelle Genomforschung (POF4-312)$$cPOF4-312$$fPOF IV$$x0
000277324 588__ $$aDataset connected to CrossRef, PubMed, , Journals: inrepo02.dkfz.de
000277324 650_7 $$2Other$$aBRCA1
000277324 650_7 $$2Other$$aBRCA2
000277324 650_7 $$2Other$$aBreast cancer
000277324 650_7 $$2Other$$aCustomized screening panel
000277324 650_7 $$2Other$$aFounder variants
000277324 650_7 $$2Other$$aJordan
000277324 650_7 $$2Other$$aPopulation-based screening
000277324 7001_ $$aSutter, Christian$$b1
000277324 7001_ $$0P:(DE-He78)5e3d4de4b59cd068969e101847794267$$aHirsch, Steffen$$b2$$udkfz
000277324 7001_ $$0P:(DE-He78)f746aa965c4e1af518b016de3aaff5d9$$aPfister, Stefan$$b3$$udkfz
000277324 7001_ $$aSchaaf, Christian P$$b4
000277324 773__ $$0PERI:(DE-600)2233352-6$$a10.1186/s13053-023-00256-2$$gVol. 21, no. 1, p. 11$$n1$$p11$$tHereditary cancer in clinical practice$$v21$$x1731-2302$$y2023
000277324 909CO $$ooai:inrepo02.dkfz.de:277324$$pVDB
000277324 9101_ $$0I:(DE-588b)2036810-0$$6P:(DE-He78)d22bc86a498d1be5f5e75a7d5d0647e3$$aDeutsches Krebsforschungszentrum$$b0$$kDKFZ
000277324 9101_ $$0I:(DE-588b)2036810-0$$6P:(DE-He78)5e3d4de4b59cd068969e101847794267$$aDeutsches Krebsforschungszentrum$$b2$$kDKFZ
000277324 9101_ $$0I:(DE-588b)2036810-0$$6P:(DE-He78)f746aa965c4e1af518b016de3aaff5d9$$aDeutsches Krebsforschungszentrum$$b3$$kDKFZ
000277324 9131_ $$0G:(DE-HGF)POF4-312$$1G:(DE-HGF)POF4-310$$2G:(DE-HGF)POF4-300$$3G:(DE-HGF)POF4$$4G:(DE-HGF)POF$$aDE-HGF$$bGesundheit$$lKrebsforschung$$vFunktionelle und strukturelle Genomforschung$$x0
000277324 9141_ $$y2023
000277324 915__ $$0StatID:(DE-HGF)0113$$2StatID$$aWoS$$bScience Citation Index Expanded$$d2022-11-09
000277324 915__ $$0StatID:(DE-HGF)0160$$2StatID$$aDBCoverage$$bEssential Science Indicators$$d2022-11-09
000277324 915__ $$0StatID:(DE-HGF)0561$$2StatID$$aArticle Processing Charges$$d2022-11-09
000277324 915__ $$0StatID:(DE-HGF)0700$$2StatID$$aFees$$d2022-11-09
000277324 915__ $$0StatID:(DE-HGF)0200$$2StatID$$aDBCoverage$$bSCOPUS$$d2023-10-25
000277324 915__ $$0StatID:(DE-HGF)0300$$2StatID$$aDBCoverage$$bMedline$$d2023-10-25
000277324 915__ $$0StatID:(DE-HGF)0320$$2StatID$$aDBCoverage$$bPubMed Central$$d2023-10-25
000277324 915__ $$0StatID:(DE-HGF)0501$$2StatID$$aDBCoverage$$bDOAJ Seal$$d2023-04-12T15:09:24Z
000277324 915__ $$0StatID:(DE-HGF)0500$$2StatID$$aDBCoverage$$bDOAJ$$d2023-04-12T15:09:24Z
000277324 915__ $$0StatID:(DE-HGF)0030$$2StatID$$aPeer Review$$bDOAJ : Open peer review$$d2023-04-12T15:09:24Z
000277324 915__ $$0StatID:(DE-HGF)0199$$2StatID$$aDBCoverage$$bClarivate Analytics Master Journal List$$d2023-10-25
000277324 915__ $$0StatID:(DE-HGF)0150$$2StatID$$aDBCoverage$$bWeb of Science Core Collection$$d2023-10-25
000277324 915__ $$0StatID:(DE-HGF)0600$$2StatID$$aDBCoverage$$bEbsco Academic Search$$d2023-10-25
000277324 915__ $$0StatID:(DE-HGF)0030$$2StatID$$aPeer Review$$bASC$$d2023-10-25
000277324 9201_ $$0I:(DE-He78)B062-20160331$$kB062$$lB062 Pädiatrische Neuroonkologie$$x0
000277324 9201_ $$0I:(DE-He78)HD01-20160331$$kHD01$$lDKTK HD zentral$$x1
000277324 9200_ $$0I:(DE-He78)B062-20160331$$kB062$$lB062 Pädiatrische Neuroonkologie$$x0
000277324 980__ $$ajournal
000277324 980__ $$aVDB
000277324 980__ $$aI:(DE-He78)B062-20160331
000277324 980__ $$aI:(DE-He78)HD01-20160331
000277324 980__ $$aUNRESTRICTED