Please use this identifier to cite or link to this item: https://scholarhub.balamand.edu.lb/handle/uob/6080
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dc.contributor.authorEl Khatib, Omaren_US
dc.contributor.authorYahya, Yasseren_US
dc.contributor.authorMahfouz, Ramien_US
dc.contributor.authorHamadeh, Lamaen_US
dc.contributor.authorBasbous, Mayaen_US
dc.contributor.authorAbboud, Miguel Ren_US
dc.contributor.authorMuwakkit, Samaren_US
dc.contributor.authorRodriguez-Galindo, Carlosen_US
dc.contributor.authorJeha, Simaen_US
dc.contributor.authorSaab, Rayaen_US
dc.date.accessioned2022-09-26T05:59:23Z-
dc.date.available2022-09-26T05:59:23Z-
dc.date.issued2022-11-
dc.identifier.issn15455009-
dc.identifier.urihttps://scholarhub.balamand.edu.lb/handle/uob/6080-
dc.description.abstractResource-limited settings often have financial barriers to genetic testing for heritable cancer. This retrospective study investigated the pattern of heritable cancer predisposition testing in a middle-income country over the period 2014-2021, excluding retinoblastoma. After establishing a specific fund in 2019, rate of tests increased from 1.1% to 10.9% of new diagnoses. Most common testing was for constitutional mismatch repair deficiency (CMMRD), rhabdoid predisposition syndrome, TP53 (tumor protein 53) mutation, and hereditary cancer panel. Of 33 patients, 13 (39%) tested positive, 12 (36%) negative, and eight (24%) had variants of unknown significance. Positivity rate was 43% for a clinical phenotype and 44% for a tumor type indication.en_US
dc.language.isoengen_US
dc.publisherWiley Online Libraryen_US
dc.subjectCancer predispositionen_US
dc.subjectGenetic testingen_US
dc.subjectHeritable canceren_US
dc.subjectPediatric oncologyen_US
dc.titleHeritable cancer predisposition testing in pediatric cancer patients excluding retinoblastoma in a middle-income countryen_US
dc.typeJournal Articleen_US
dc.identifier.doi10.1002/pbc.29982-
dc.identifier.pmid36094320-
dc.identifier.scopus2-s2.0-85137905761-
dc.identifier.urlhttps://api.elsevier.com/content/abstract/scopus_id/85137905761-
dc.contributor.affiliationFaculty of Medicineen_US
dc.description.volume69en_US
dc.description.issue11en_US
dc.date.catalogued2022-09-26-
dc.description.statusPublisheden_US
dc.identifier.ezproxyURLhttp://ezsecureaccess.balamand.edu.lb/login?url=https://onlinelibrary.wiley.com/doi/full/10.1002/pbc.29982en_US
dc.relation.ispartoftextPediatric Blood and Canceren_US
dc.description.campusSGH campusen_US
Appears in Collections:Faculty of Medicine
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