Most tumours arising in individuals affected with hereditary non-polyposis colorectal cancer (HNPCC) are characterized by microsatellite instability (MSI). MSI is also detected in a subset of sporadic colorectal and extracolonic carcinomas. We recently identified a new human DNA repair gene, MBD4 (also known as MED1, for methyl-CpG binding endonuclease), that encodes an MLH1 interactor. We detected MBD4 mutations in 14 of 56 (25%) primary MSI tumours, 11 of 42 (26.2%) colorectal carcinomas, 2 of 9 (22.2%) endometrial carcinomas and 1 of 5 (20%) pancreatic tumours. Analysis of the corresponding normal DNAs indicated that the mutations were somatic.Overall, these studies further illustrate that in a subset of human carcinomas a mutational process is set in motion that progressively targets DNA repair genes and steadily increases genomic instability.
The DNA repair gene MBD4 (MED1) is mutated in human carcinomas with microsatellite instability / Riccio, A; Aaltonen, La; Godwin, Ak; Loukola, A; Percesepe, Antonio; Salovaara, R; Masciullo, V; Genuardi, M; Paravatou Petsotas, M; Bassi, De; Ruggeri, Ba; Klein Szanto, Ajp; Testa, Jr; Neri, G; Bellacosa, A.. - In: NATURE GENETICS. - ISSN 1061-4036. - STAMPA. - 23:(1999), pp. 266-268.
The DNA repair gene MBD4 (MED1) is mutated in human carcinomas with microsatellite instability
PERCESEPE, Antonio;
1999
Abstract
Most tumours arising in individuals affected with hereditary non-polyposis colorectal cancer (HNPCC) are characterized by microsatellite instability (MSI). MSI is also detected in a subset of sporadic colorectal and extracolonic carcinomas. We recently identified a new human DNA repair gene, MBD4 (also known as MED1, for methyl-CpG binding endonuclease), that encodes an MLH1 interactor. We detected MBD4 mutations in 14 of 56 (25%) primary MSI tumours, 11 of 42 (26.2%) colorectal carcinomas, 2 of 9 (22.2%) endometrial carcinomas and 1 of 5 (20%) pancreatic tumours. Analysis of the corresponding normal DNAs indicated that the mutations were somatic.Overall, these studies further illustrate that in a subset of human carcinomas a mutational process is set in motion that progressively targets DNA repair genes and steadily increases genomic instability.
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