Topic: Genetics and Genomics of Cancer

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A special issue of Journal of Translational Genetics and Genomics.

Deadline for manuscript submissions: 31 Aug 2018

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Guest Editor(s)

  • David N. Cooper, PhD
    Professor of Human Molecular Genetics, Institute of Medical Genetics, School of Medicine, Cardiff University, UK.

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Special Issue Introduction:

Tumorigenesis is a multistep process that begins with the transformation of a single cell which acquires one or more of the “hallmarks of cancer”. Cells acquire these characteristics through numerous somatic mutations caused by errors of DNA replication, the action of exogenous mutagens or endogenous DNA damage, leading to the activation of oncogenes and the inactivation of tumour suppressors. Different tumours differ with respect to their mutational spectra and these patterns of mutation are often characteristic of the tumour in question. Genetic susceptibility to cancer is also conferred by inherited variants of cancer predisposition genes. As whole exome/genome sequencing becomes commonplace in a clinical genetics/personalised genomics setting, we are gradually developing an understanding of the role of both inherited and acquired variants in tumorigenesis. We plan to publish reviews of the molecular genetics of human cancers which we hope will allow the reader to compare and contrast some of the 100+ different human cancers in terms of their underlying mutational spectra.


Cancer genetics, genomics, genome, mutation, mutational spectra, personalized medicine

Submission Information:

Articles of special issue are free of charge for article processing.
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Submission Deadline: 31 Aug 2018
Contacts: Ruirui Zhang, Managing Editor,

Published Articles Download All Articles
  • Molecular genetics of Ewing sarcoma, model systems and finding novel (immuno-) therapeutic targets

    Wietske van der Ent , Laurens G.L. Sand , Pancras C.W. Hogendoorn
    Ewing sarcoma (EWS) is a bone- and soft tissue tumour affecting primarily children and young adults. A quarter of patients present with metastases at the time of diagnosis and have a poor outlook in terms of overall survival. Efforts are made across the field to gain deeper insight in the genetics of this enigmatic neoplasm. EWS is characterized by presence of an oncogenic translocation gene, EWSR1-ETS. In addition, there are a limited number of known recurrent DNA copy number variations and mutations. Subsequent of the above, the epigenetic profile of EWS is subject of interest. In this... Read more
    This article belongs to the Special Issue Genetics and Genomics of Cancer
    J Transl Genet Genom 2018;2:10. | doi:10.20517/jtgg.2018.09
    Published on: 16 Jul 2018  | Viewed:787  | Downloaded:27
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  • Parathyroid carcinoma

    Jessica Costa-Guda
    Parathyroid carcinoma is a rare but clinically-aggressive tumor. While most cases are sporadic, parathyroid cancer is overrepresented in hyperparathyroidism-jaw tumor syndrome, or rarely other heritable syndromes. Evidence suggests that sporadic parathyroid carcinomas rarely, if ever, evolve through an identifiable benign tumor intermediate. A few genes have been directly implicated in the pathogenesis of sporadic parathyroid cancer; somatic (and less common germline) mutations in the CDC73 tumor suppressor gene are the most frequent finding and the only firmly established molecular drivers... Read more
    This article belongs to the Special Issue Genetics and Genomics of Cancer
    J Transl Genet Genom 2018;2:5. | doi:10.20517/jtgg.2018.08
    Published on: 22 May 2018  | Viewed:662  | Downloaded:27
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Journal of Translational Genetics and Genomics ISSN 2578-5281 (Online)
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