Identification of somatic mutations in dementia-related genes in cancer patients

Research output: Contribution to journalJournal articlepeer-review

Abstract

Background: Dementia is an overall term of brain diseases, including Alzheimer’s disease (AD), tauopathies and synucleinopathies. To date, somatic mutations in dementia-related genes, including the amyloid precursor protein (APP) gene, presenilin 1 (PSEN1) gene, PSEN2 gene, microtubule-associated protein tau (MAPT) gene, alpha-synuclein (SNCA) gene and leucine-rich repeat kinase 2 (LRRK2) gene, have been considered one cause of dementia. We have questioned the impact of somatic mutations in dementia-related genes on cancer. Methods: In the present study, we investigated somatic mutations in the APP, PSEN1, PSEN2, MAPT, SNCA and LRRK2 genes and the impact of these somatic mutations. Results: From The Cancer Genome Atlas (TCGA) database, we found 1,643 somatic mutations in the APP, PSEN1, PSEN2, MAPT, SNCA and LRRK2 genes in cancer patients. Strikingly, compared to the distributions of cancer types in total cancer patients, somatic mutations in the dementia-related genes showed an extremely low distribution in glioblastoma patients. Conclusion: To the best of our knowledge, this is the first investigation of dementia-related genes in cancer patients.

Original languageEnglish
Pages (from-to)835-844
Number of pages10
JournalCurrent Alzheimer Research
Volume17
Issue number9
DOIs
StatePublished - 2020

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

  1. SDG 3 - Good Health and Well-being
    SDG 3 Good Health and Well-being

Keywords

  • APP
  • Dementia
  • Glioblastoma
  • LRRK2
  • MAPT
  • PSEN1
  • PSEN2
  • SNCA
  • Somatic mutation

Quacquarelli Symonds(QS) Subject Topics

  • Medicine

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