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Update on genetic predisposition to colorectal cancer and polyposis

Journal article
Authors L. Valle
R. M. de Voer
Y. Goldberg
W. Sjursen
A. Forsti
C. Ruiz-Ponte
T. Caldes
P. Garre
M. F. Olsen
Margareta Nordling
S. Castellvi-Bel
K. Hemminki
Published in Molecular Aspects of Medicine
Volume 69
Pages 10-26
ISSN 0098-2997
Publication year 2019
Published at Institute of Biomedicine, Department of Medical and Clinical Genetics
Pages 10-26
Language en
Keywords Hereditary colorectal cancer, Polyposis, Cancer-predisposing genes, Identification of causal genes, Next generation sequencing, mismatch repair-deficiency, hereditary mixed polyposis, pold1 germline, mutations, european consortium care, copy number variants, society, task-force, early-onset, hyperplastic polyposis, DNA-polymerase, adenomatous polyposis, Biochemistry & Molecular Biology, Research & Experimental Medicine
Subject categories Biochemistry and Molecular Biology


The present article summarizes recent developments in the characterization of genetic predisposition to colorectal cancer (CRC). The main themes covered include new hereditary CRC and polyposis syndromes, non-CRC hereditary cancer genes found mutated in CRC patients, strategies used to identify novel causal genes, and review of candidate genes that have been proposed to predispose to CRC and/or colonic polyposis. We provide an overview of newly described genes and syndromes associated with predisposition to CRC and polyposis, including: polymerase proofreading-associated polyposis, NTHL1-associated polyposis, mismatch repair gene biallelic inactivation-related adenomatous polyposis (including MSH3- and MLH3-associated polyposes), GREM1-associated mixed polyposis, RNF43-associated serrated polyposis, and RPS20 mutations as a rare cause of hereditary nonpolyposis CRC. The implementation of next generation sequencing approaches for genetic testing has exposed the presence of pathogenic germline variants in genes associated with hereditary cancer syndromes not traditionally linked to CRC, which may have an impact on genetic testing, counseling and surveillance. The identification of new hereditary CRC and polyposis genes has not deemed an easy endeavor, even though known CRC-related genes explain a small proportion of the estimated familial risk. Whole-genome sequencing may offer a technology for increasing this proportion, particularly if applied on pedigree data allowing linkage type of analysis. The final section critically surveys the large number of candidate genes that have been recently proposed for CRC predisposition.

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