Germline mutation contribution to chromosomal instability

Sock Hoai Chan, Joanne Ngeow

Research output: Contribution to journalReview articlepeer-review

13 Citations (Scopus)

Abstract

Genomic instability is a feature of cancer that fuels oncogenesis through increased frequency of genetic disruption, leading to loss of genomic integrity and promoting clonal evolution as well as tumor transformation. A form of genomic instability prevalent across cancer types is chromosomal instability, which involves karyotypic changes including chromosome copy number alterations as well as gross structural abnormalities such as transversions and translocations. Defects in cellular mechanisms that are in place to govern fidelity of chromosomal segregation, DNA repair and ultimately genomic integrity are known to contribute to chromosomal instability. In this review, we discuss the association of germline mutations in these pathways with chromosomal instability in the background of related cancer predisposition syndromes. We will also reflect on the impact of genetic predisposition to clinical management of patients and how we can exploit this vulnerability to promote catastrophic genomic instability as a therapeutic strategy.

Original languageEnglish
Pages (from-to)T33-T46
JournalEndocrine-Related Cancer
Volume24
Issue number9
DOIs
Publication statusPublished - Sept 1 2017
Externally publishedYes

Bibliographical note

Publisher Copyright:
© 2017 Society for Endocrinology.

ASJC Scopus Subject Areas

  • Endocrinology, Diabetes and Metabolism
  • Oncology
  • Endocrinology
  • Cancer Research

Keywords

  • cancer
  • chromosome instability
  • molecular genetics

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