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|Title:||Heritable cancer predisposition testing in pediatric cancer patients excluding retinoblastoma in a middle-income country||Authors:||El Khatib, Omar
Abboud, Miguel R
|Affiliations:||Faculty of Medicine||Keywords:||Cancer predisposition
|Issue Date:||2022-01-12||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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