title: Association of The IDH1 C.395G>A (R132H) Mutation with Histological Type in Malay Brain Tumors
abstract: Background: Brain tumors, constituting one of the most deadly forms of cancer worldwide, result from the
  accumulation of multiple genetic and epigenetic alterations in genes and signaling pathways. Isocitrate dehydrogenase
  enzyme isoform 1 (IDH1) mutations are frequently identified in primary brain tumors and acute myeloid leukemia. Studies
  on IDH1 gene mutations have been extensively performed in various populations worldwide but not in Malaysia. This
  work was conducted to study the prevalence of IDH1 c.395G>A (R132H) hotspot mutations in a group of Malaysian
  patients with brain tumors in order to gain local data for the IDH1 mutation profile in our population. Methods:
  Mutation analysis of c.395G>A (R132H) of IDH1 was performed in 40 brain tumor specimens by the polymerase
  chain reaction-restriction fragment length polymorphism method (PCR-RFLP) and then verified by direct sequencing.
  Associations between the IDH1 c.395G>A (R132H) mutation and clinicopathologic characteristics were also analyzed.
  Results: The IDH1 c.395G>A (R132H) mutation was detected in 14/40 patients (35%). A significant association was
  found with histological tumor types, but not with age, gender and race. Conclusions: IDH1 is frequently mutated and
  associated with histological subtypes in Malay brain tumors.
authors.affiliation: Department of Neurosciences School of Medical Sciences Universiti Sains Malaysia, 16150 Kubang Kerian, Kelantan MALAYSIA. Email: azizmdy@yahoo.com
authors.forename: Abdul Aziz
authors.initials: AA
authors.lastname: Mohamed Yusoff
authors.forename: Fatin Najwa
authors.initials: FN
authors.lastname: Zulfakhar
authors.forename: Mohd Dasuki
authors.initials: MD
authors.lastname: Sul’ain
authors.forename: Zamzuri
authors.initials: Z
authors.lastname: Idris
authors.forename: Jafri Malin
authors.initials: JM
authors.lastname: Abdullah
keywords: Brain tumors; IDH1 mutation; Malaysia