Heritable cancer predisposition testing in pediatric cancer patients excluding retinoblastoma in a middle-income country
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John Wiley and Sons Inc
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. © 2022 Wiley Periodicals LLC.
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Cancer predisposition, Genetic testing, Heritable cancer, Pediatric oncology, Brain neoplasms, Colorectal neoplasms, Dna mismatch repair, Genetic predisposition to disease, Humans, Neoplastic syndromes, hereditary, Retinal neoplasms, Retinoblastoma, Retrospective studies, Apc protein, Oncogene protein v cbl, Platelet derived growth factor beta receptor, Protein p53, Protein patched 1, Acute lymphoblastic leukemia, Article, Bone marrow depression, Brain cancer, Cancer patient, Cancer susceptibility, Child, Childhood cancer, Choroid plexus tumor, Clinical article, Congenital generalized fibromatosis, Constitutional mismatch repair deficiency syndrome, Female, Gardner syndrome, Gene mutation, Gene sequence, Genetic screening, Glioblastoma, Hereditary tumor syndrome, Human, Leiomyoma, Lymphoblastoma, Male, Medical record review, Middle income country, Neurofibromatosis, Osteosarcoma, Phenotype, Pheochromocytoma, Pilocytic astrocytoma, Positivity rate, Retrospective study, Rhabdoid tumor, Solid malignant neoplasm, T cell lymphoma, Task performance, Brain tumor, Colorectal tumor, Genetic predisposition, Genetics, Mismatch repair, Pathology, Retina tumor