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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 | Abstract: | 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. |
URI: | https://scholarhub.balamand.edu.lb/handle/uob/6080 | 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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