Ontology highlight
ABSTRACT:
SUBMITTER: Tricarico R
PROVIDER: S-EPMC4767479 | biostudies-literature | 2015 Dec
REPOSITORIES: biostudies-literature
Tricarico Rossella R Cortellino Salvatore S Riccio Antonio A Jagmohan-Changur Shantie S Van der Klift Heleen H Wijnen Juul J Turner David D Ventura Andrea A Rovella Valentina V Percesepe Antonio A Lucci-Cordisco Emanuela E Radice Paolo P Bertario Lucio L Pedroni Monica M Ponz de Leon Maurizio M Mancuso Pietro P Devarajan Karthik K Cai Kathy Q KQ Klein-Szanto Andres J P AJ Neri Giovanni G Møller Pål P Viel Alessandra A Genuardi Maurizio M Fodde Riccardo R Bellacosa Alfonso A
Oncotarget 20151201 40
The DNA glycosylase gene MBD4 safeguards genomic stability at CpG sites and is frequently mutated at coding poly-A tracks in mismatch repair (MMR)-defective colorectal tumors (CRC). Mbd4 biallelic inactivation in mice provided conflicting results as to its role in tumorigenesis. Thus, it is unclear whether MBD4 alterations are only secondary to MMR defects without functional consequences or can contribute to the mutator phenotype. We investigated MBD4 variants in a large series of hereditary/fam ...[more]