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Title: Heritable cancer predisposition testing in pediatric cancer patients excluding retinoblastoma in a middle-income country
Authors: El Khatib, Omar
Yahya, Yasser
Mahfouz, Rami
Hamadeh, Lama
Basbous, Maya
Abboud, Miguel R
Muwakkit, Samar
Rodriguez-Galindo, Carlos
Jeha, Sima
Saab, Raya
Affiliations: Faculty of Medicine 
Keywords: Cancer predisposition
Genetic testing
Heritable cancer
Pediatric oncology
Issue Date: 2022-11
Publisher: Wiley Online Library
Part of: Pediatric Blood and Cancer
Volume: 69
Issue: 11
Resource-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.
ISSN: 15455009
DOI: 10.1002/pbc.29982
Ezproxy URL: Link to full text
Type: Journal Article
Appears in Collections:Faculty of Medicine

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