Whole exome sequencing-based analysis to identify DNA damage repair deficiency as a major contributor to gliomagenesis in adult diffuse gliomas


Ulgen E., CAN Ö., Bilguvar K., OKTAY Y., AKYERLİ BOYLU C., Danyeli A., ...More

JOURNAL OF NEUROSURGERY, vol.132, no.5, pp.1435-1446, 2020 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 132 Issue: 5
  • Publication Date: 2020
  • Doi Number: 10.3171/2019.1.jns182938
  • Journal Name: JOURNAL OF NEUROSURGERY
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, BIOSIS, EMBASE, MEDLINE
  • Page Numbers: pp.1435-1446
  • Keywords: glioma, mutational signatures, DNA repair, exome sequencing, oncology, MUTATIONAL PROCESSES, PROMOTER MUTATIONS, GENE POLYMORPHISMS, NERVOUS-SYSTEM, IDH-MUTANT, CANCER, ASSOCIATION, SIGNATURES, PREDISPOSITION, PATTERNS
  • Acibadem Mehmet Ali Aydinlar University Affiliated: Yes

Abstract

OBJECTIVE Processes that cause or contribute to cancer, such as aging, exposure to carcinogens, or DNA damage repair deficiency (DDRd), create predictable and traceable nucleotide alterations in one's genetic code (termed "mutational signatures"). Large studies have previously identified various such mutational signatures across cancers that can be attributed to the specific causative processes. To gain further insight into the processes in glioma development, the authors analyzed mutational signatures in adult diffuse gliomas (DGs).