Authors
Laura Valle, Richarda M de Voer, Yael Goldberg, Wenche Sjursen, Asta Försti, Clara Ruiz-Ponte, Trinidad Caldés, Pilar Garré, Maren F Olsen, Margareta Nordling, Sergi Castellvi-Bel, Kari Hemminki
Publication date
2019/10/1
Source
Molecular aspects of medicine
Volume
69
Pages
10-26
Publisher
Pergamon
Description
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 …
Total citations
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Scholar articles
L Valle, RM de Voer, Y Goldberg, W Sjursen, A Försti… - Molecular aspects of medicine, 2019