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

Onderzoeksoutput: Bijdrage aan tijdschriftArtikel recenserenpeer review

Samenvatting

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.

Originele taal-2Engels
Pagina's (van-tot)188-94
Aantal pagina's7
TijdschriftCytogenetic and genome research
Volume123
Nummer van het tijdschrift1-4
DOI's
StatusGepubliceerd - 2008
Extern gepubliceerdJa

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