Hereditary Colorectal Cancer and Polyposis Syndromes Caused by Variants in Uncommon Genes.

Autor: Bouras A; Laboratory of Constitutional Genetics for Frequent Cancer HCL-CLB, Centre Léon Bérard, Lyon, France.; Inserm U1052, Lyon Cancer Research Center, Lyon, France., Fabre A; Department of Genetics, Hôpital d'Enfants de La Timone, AP-HM, Marseille, France., Zattara H; Department of Genetics, Hôpital d'Enfants de La Timone, AP-HM, Marseille, France., Handallou S; Cancer Genetics Unit, Department of Public Health, Centre Léon Bérard, Lyon, France., Desseigne F; Department of Medicine, Centre Léon Bérard, Lyon, France., Kientz C; Department of Clinical, Chromosomal and Molecular Genetics, Hôpital Nord, CHU Saint Etienne, Saint Etienne, France., Prieur F; Department of Clinical, Chromosomal and Molecular Genetics, Hôpital Nord, CHU Saint Etienne, Saint Etienne, France., Peysselon M; Genetic Service, Department of Genetics and Procreation, CHU Grenoble Alpes, Grenoble, France., Legrand C; Genetic Service, Department of Genetics and Procreation, CHU Grenoble Alpes, Grenoble, France., Calavas L; Department of Gastroenterology and Endoscopy, Edouard Herriot Hospital, Lyon, France., Saurin JC; Department of Gastroenterology and Endoscopy, Edouard Herriot Hospital, Lyon, France., Wang Q; Laboratory of Constitutional Genetics for Frequent Cancer HCL-CLB, Centre Léon Bérard, Lyon, France.; Inserm U1052, Lyon Cancer Research Center, Lyon, France.
Jazyk: angličtina
Zdroj: Genes, chromosomes & cancer [Genes Chromosomes Cancer] 2024 Aug; Vol. 63 (8), pp. e23263.
DOI: 10.1002/gcc.23263
Abstrakt: A substantial number of hereditary colorectal cancer (CRC) and colonic polyposis cannot be explained by alteration in confirmed predisposition genes, such as mismatch repair (MMR) genes, APC and MUTYH. Recently, a certain number of potential predisposition genes have been suggested, involving each a small number of cases reported so far. Here, we describe the detection of rare variants in the NTLH1, AXIN2, RNF43, BUB1, and TP53 genes in nine unrelated patients who were suspected for inherited CRC and/or colonic polyposis. Seven of them were classified as pathogenic or likely pathogenic variants (PV/LPV). Clinical manifestations of carriers were largely consistent with reported cases with, nevertheless, distinct characteristics. PV/LPV in these uncommon gene can be responsible for up to 2.7% of inherited CRC or colonic polyposis syndromes. Our findings provide supporting evidence for the role of these genes in cancer predisposition, and contribute to the determination of related cancer spectrum and cancer risk for carriers, allowing for the establishment of appropriate screening strategy and genetic counseling in affected families.
(© 2024 The Author(s). Genes, Chromosomes and Cancer published by Wiley Periodicals LLC.)
Databáze: MEDLINE
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