1. Germline mutations in pediatric cancer cohort with mixed-ancestry Mexicans.
- Author
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Alonso-Luna O, Mercado-Celis GE, Melendez-Zajgla J, Barquera R, Zapata-Tarres M, Juárez-Villegas LE, Mendoza-Caamal EC, Rey-Helo E, and Borges-Yañez SA
- Subjects
- Adult, Humans, Child, Child, Preschool, Adolescent, Genetic Predisposition to Disease, Exome Sequencing, Ribonuclease III, DEAD-box RNA Helicases, Germ-Line Mutation, Neoplasms genetics, North American People
- Abstract
Background: Childhood cancer is one of the primary causes of disease-related death in 5- to 14-year-old children and currently no prevention strategies exist to reduce the incidence of this disease. Childhood cancer has a larger hereditary component compared with cancer in adults. Few genetic studies have been conducted on children with cancer. Additionally, Latin American populations are underrepresented in genomic studies compared with other populations. Therefore, the aim of this study is to analyze germline mutations in a group of mixed-ancestry Mexican pediatric patients with solid and hematological cancers., Methods: We analyzed genetic variants from 40 Mexican childhood cancer patients and their relatives. DNA from saliva or blood samples was used for whole-exome sequencing. All variants were identified following GATK best practices., Results: We found that six patients (15%) were carriers of germline mutations in CDKN2A, CHEK2, DICER1, FANCA, MSH6, MUTYH, NF1, and SBDS cancer predisposition genes, and additional new variants predicted to be deleterious by in silico algorithms. A population genetics analysis detected five components consistent with the demographic models assumed for modern mixed-ancestry Mexicans., Conclusions: This report identifies potential genetic risk factors and provides a better understanding of the underlying mechanisms of childhood cancer in this population., (© 2023 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals LLC.)
- Published
- 2024
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