Predisposition to colorectal cancer: exploiting copy number variation to identify novel predisposing genes and mechanisms

R Venkatachalam, M J L Ligtenberg, N Hoogerbrugge, A Geurts van Kessel, R P Kuiper

Research output: Contribution to journalReview articlepeer-review

Abstract

Although cancer is mostly regarded as an acquired disease, familial predisposition plays a significant role in many cancer types. Thus far, several high penetrant cancer predisposing genes have been identified. As yet, however, these genes explain only a fraction of the familial and/or hereditary cases of cancer. This has led to the exploration of the human genome for novel cancer predisposing genes. The identification of such genes will not only increase our understanding of cancer predisposition and development, but will also have direct implications for genetic counseling and personalized management of the patients and their family members. Here we provide an inventory of currently known molecular mechanisms related to familial colorectal cancer development and an outline of copy number analysis-based strategies to identify new predisposing genes. Finally, we discuss a novel copy number-associated epigenetic mechanism underlying the predisposition to colorectal cancer.

Original languageEnglish
Pages (from-to)188-94
Number of pages7
JournalCytogenetic and genome research
Volume123
Issue number1-4
DOIs
Publication statusPublished - 2008
Externally publishedYes

Keywords

  • Alleles
  • Colorectal Neoplasms/genetics
  • Gene Expression Profiling
  • Genetic Predisposition to Disease/genetics
  • Humans
  • Pedigree

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