Heritable cancer predisposition testing in pediatric cancer patients excluding retinoblastoma in a middle-income country

Autor:	Omar El Khatib, Yasser Yahya, Rami Mahfouz, Lama Hamadeh, Maya Basbous, Miguel R. Abboud, Samar Muwakkit, Carlos Rodriguez‐Galindo, Sima Jeha, Raya Saab
Rok vydání:	2022
Předmět:	Oncology Brain Neoplasms Neoplastic Syndromes Hereditary Retinal Neoplasms Pediatrics Perinatology and Child Health Retinoblastoma Humans Genetic Predisposition to Disease Hematology Genetic Testing Colorectal Neoplasms DNA Mismatch Repair Retrospective Studies
Zdroj:	Pediatric bloodcancerREFERENCES. 69(11)
ISSN:	1545-5017 2014-2021
Popis:	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.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1d8517bd77fbf085f54e18b1a33318a4 https://pubmed.ncbi.nlm.nih.gov/36094320 Zobrazit plný text záznamu Plný text