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Title: Approaches to functionally validate candidate genetic variants involved in colorectal cancer predisposition
Author: Bonjoch Gassol, Laia
Mur, Pilar
Arnau Collell, Coral
Vargas Parra, Gardenía María
Shamloo, Bahar
Franch Expósito, Sebastià
Pineda Riu, Marta
Capellá, G. (Gabriel)
Erman, Batu
Castellví Bel, Sergi
Keywords: Càncer colorectal
Malalties hereditàries
Cribratge genètic
Colorectal cancer
Genetic diseases
Genetic screening
Issue Date: 1-Oct-2019
Publisher: Elsevier Ltd
Abstract: 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.
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It is part of: Molecular Aspects of Medicine, 2019, vol. 69, p. 27-40
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ISSN: 0098-2997
Appears in Collections:Articles publicats en revistes (IDIBAPS: Institut d'investigacions Biomèdiques August Pi i Sunyer)
Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL))
Articles publicats en revistes (Ciències Clíniques)

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