Journal
TECHNOLOGY IN CANCER RESEARCH & TREATMENT
Volume 19, Issue -, Pages -Publisher
SAGE PUBLICATIONS INC
DOI: 10.1177/1533033820911082
Keywords
tumor suppressor genes; whole-exome sequencing; centenarians; Bulgarian; reevaluation of clinical significance
Categories
Funding
- National Science Fund of Bulgaria [DN 03/7/18.12.2016]
- Bulgarian Ministry of Education and Science under the National Program for Research Young Scientists and Postdoctoral Students
Ask authors/readers for more resources
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.
Authors
I am an author on this paper
Click your name to claim this paper and add it to your profile.
Reviews
Recommended
No Data Available