From APC to the genetics of hereditary and familial colon cancer syndromes.

Autor:	Olkinuora AP; Department of Medical and Clinical Genetics, Medicum, University of Helsinki, 00014 Helsinki, Finland.; iCAN Digital Precision Cancer Medicine Flagship, University of Helsinki, 00014 Helsinki, Finland., Peltomäki PT; Department of Medical and Clinical Genetics, Medicum, University of Helsinki, 00014 Helsinki, Finland.; iCAN Digital Precision Cancer Medicine Flagship, University of Helsinki, 00014 Helsinki, Finland., Aaltonen LA; Department of Medical and Clinical Genetics, Medicum, University of Helsinki, 00014 Helsinki, Finland.; iCAN Digital Precision Cancer Medicine Flagship, University of Helsinki, 00014 Helsinki, Finland.; Applied Tumor Genomics Research Program, Research Programs Unit, University of Helsinki, 00014 Helsinki, Finland., Rajamäki K; Department of Medical and Clinical Genetics, Medicum, University of Helsinki, 00014 Helsinki, Finland.; Applied Tumor Genomics Research Program, Research Programs Unit, University of Helsinki, 00014 Helsinki, Finland.
Jazyk:	angličtina
Zdroj:	Human molecular genetics [Hum Mol Genet] 2021 Oct 01; Vol. 30 (R2), pp. R206-R224.
DOI:	10.1093/hmg/ddab208
Abstrakt:	Hereditary colorectal cancer (CRC) syndromes attributable to high penetrance mutations represent 9-26% of young-onset CRC cases. The clinical significance of many of these mutations is understood well enough to be used in diagnostics and as an aid in patient care. However, despite the advances made in the field, a significant proportion of familial and early-onset cases remains molecularly uncharacterized and extensive work is still needed to fully understand the genetic nature of CRC susceptibility. With the emergence of next-generation sequencing and associated methods, several predisposition loci have been unraveled, but validation is incomplete. Individuals with cancer-predisposing mutations are currently enrolled in life-long surveillance, but with the development of new treatments, such as cancer vaccinations, this might change in the not so distant future for at least some individuals. For individuals without a known cause for their disease susceptibility, prevention and therapy options are less precise. Herein, we review the progress achieved in the last three decades with a focus on how CRC predisposition genes were discovered. Furthermore, we discuss the clinical implications of these discoveries and anticipate what to expect in the next decade. (© The Author(s) 2021. Published by Oxford University Press.)
Databáze:	MEDLINE
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