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

Ulgen, Ege; CAN, ÖZGE; Bilguvar, KAYA; OKTAY, YAVUZ; AKYERLİ BOYLU, CEMALİYE; Danyeli, Ayça; Yakicier, M.; Sezerman, Osman; Pamir, M.; Ozduman, KORAY

doi:10.3171/2019.1.jns182938

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

Atıf İçin Kopyala

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

JOURNAL OF NEUROSURGERY, cilt.132, sa.5, ss.1435-1446, 2020 (SCI-Expanded)

Yayın Türü: Makale / Tam Makale
Cilt numarası: 132 Sayı: 5
Basım Tarihi: 2020
Doi Numarası: 10.3171/2019.1.jns182938
Dergi Adı: JOURNAL OF NEUROSURGERY
Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, BIOSIS, EMBASE, MEDLINE
Sayfa Sayıları: ss.1435-1446
Anahtar Kelimeler: glioma, mutational signatures, DNA repair, exome sequencing, oncology, MUTATIONAL PROCESSES, PROMOTER MUTATIONS, GENE POLYMORPHISMS, NERVOUS-SYSTEM, IDH-MUTANT, CANCER, ASSOCIATION, SIGNATURES, PREDISPOSITION, PATTERNS
Acıbadem Mehmet Ali Aydınlar Üniversitesi Adresli: Evet

Özet

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).