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Centenarian Exomes as a Tool for Evaluating the Clinical Relevance of Germline Tumor Suppressor Mutations
- Source :
- Technology in Cancer Research & Treatment, Vol 19 (2020)
- Publication Year :
- 2020
- Publisher :
- SAGE Publishing, 2020.
-
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.
- Subjects :
- Neoplasms. Tumors. Oncology. Including cancer and carcinogens
RC254-282
Subjects
Details
- Language :
- English
- ISSN :
- 15330338
- Volume :
- 19
- Database :
- Directory of Open Access Journals
- Journal :
- Technology in Cancer Research & Treatment
- Publication Type :
- Academic Journal
- Accession number :
- edsdoj.0fe8fad5d789431cae223b2e68b77e63
- Document Type :
- article
- Full Text :
- https://doi.org/10.1177/1533033820911082