1. Centenarian Exomes as a Tool for Evaluating the Clinical Relevance of Germline Tumor Suppressor Mutations
- Author
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Lubomir Balabanski MSc, Dimitar Serbezov PhD, Dragomira Nikolova PhD, Olga Antonova PhD, Desislava Nesheva PhD, Zora Hammoudeh PhD, Radoslava Vazharova PhD, Sena Karachanak-Yankova PhD, Rada Staneva PhD, Marta Mihaylova PhD, Vera Damyanova PhD, Savina Hadjidekova PhD, and Draga Toncheva PhD
- Subjects
Neoplasms. Tumors. Oncology. Including cancer and carcinogens ,RC254-282 - Abstract
Objectives: The aim of the present study was to evaluate the clinical relevance of mutations in tumor suppressor genes using whole-exome sequencing data from centenarians and young healthy individuals. Methods: Two pools, one of centenarians and one of young individuals, were constructed and whole-exome sequencing was performed. We examined the whole-exome sequencing data of Bulgarian individuals for carriership of tumor suppressor gene variants. Results: Of all variants annotated in both pools, 5080 (0.06%) are variants in tumor suppressor genes but only 46 show significant difference in allele frequencies between the two studied groups. Four variants (0.004%) are pathogenic/risk factors according to single nucleotide polymorphism database: rs1566734 in PTPRJ , rs861539 in XRCC3 , rs203462 in AKAP10 , and rs486907 in RNASEL . Discussion: Based on their high minor allele frequencies and presence in the centenarian group, we could reclassify them from pathogenic/risk factors to benign. Our study shows that centenarian exomes can be used for re-evaluating the clinically uncertain variants.
- Published
- 2020
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