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2019-10-01

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cc-by-nc-nd (c) Bonjoch, Laia et al., 2019
Si us plau utilitzeu sempre aquest identificador per citar o enllaçar aquest document: https://hdl.handle.net/2445/175148

Approaches to functionally validate candidate genetic variants involved in colorectal cancer predisposition

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Recurs relacionat

https://doi.org/10.1016/j.mam.2019.03.004

Resum

Most next generation sequencing (NGS) studies identified candidate genetic variants predisposing to colorectal cancer (CRC) but do not tackle its functional interpretation to unequivocally recognize a new hereditary CRC gene. Besides, germline variants in already established hereditary CRC-predisposing genes or somatic variants share the same need when trying to categorize those with relevant significance. Functional genomics approaches have an important role in identifying the causal links between genetic architecture and phenotypes, in order to decipher cellular function in health and disease. Therefore, functional interpretation of identified genetic var iants by NGS platforms is now essential. Available approaches nowadays include bioinformatics, cell and mo lecular biology and animal models. Recent advances, such as the CRISPR-Cas9, ZFN and TALEN systems, have been already used as a powerful tool with this objective. However, the use of cell lines is of limited value due to the CRC heterogeneity and its close interaction with microenvironment. Access to tridimensional cultures or organoids and xenograft models that mimic the in vivo tissue architecture could revolutionize functional ana lysis. This review will focus on the application of state-of-the-art functional studies to better tackle new genes involved in germline predisposition to this neoplasm.

Matèries

Càncer colorectal, Malalties hereditàries, Cribratge genètic, Genòmica

Matèries (anglès)

Colorectal cancer, Genetic diseases, Genetic screening, Genomics

Citació

Col·leccions

Articles publicats en revistes (Ciències Clíniques)
Articles publicats en revistes (IDIBAPS: Institut d'investigacions Biomèdiques August Pi i Sunyer)
Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL))

Citació

BONJOCH GASSOL, Laia, et al. Approaches to functionally validate candidate genetic variants involved in colorectal cancer predisposition. Molecular Aspects of Medicine. 2019. Vol. 69, num. 27-40. ISSN 0098-2997. [consulted: 20 of August of 2026]. Available at: https://hdl.handle.net/2445/175148

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