title: Identification of microsatellite instability and mismatch repair gene mutations in breast cancer cell lines.
abstract: At present, there is conflicting evidence whether microsatellite instability (MSI) plays a role in the pathogenesis of breast cancer. Here we describe for the first time an MSI(+) phenotype in two breast cancer cell lines, CAL51 and MT-3, resembling that observed in colorectal cancers. These cell lines are characterized by near-diploid and hyperdiploid karyotypes, respectively. We detected MSI in these cell lines within two non-coding (BAT-25 and BAT-26) and within coding repeat sequences of genes known to be mutated in MSI(+) cancer (TGFBR2, IGF2R, BAX). We provide evidence that the inactivation of MMR genes is responsible for MSI in these cell lines.
authors.affiliation: Abteilung Tumorgenetik, Max-Delbrück-Centrum für Molekulare Medizin, Berlin, Germany. sseitz@mdc-berlin.de
authors.forename: Susanne
authors.initials: S
authors.lastname: Seitz
authors.forename: Peter
authors.initials: P
authors.lastname: Wassmuth
authors.forename: Jens
authors.initials: J
authors.lastname: Plaschke
authors.forename: Hans K
authors.initials: HK
authors.lastname: Schackert
authors.forename: Uwe
authors.initials: U
authors.lastname: Karsten
authors.forename: Mauro-F
authors.initials: MF
authors.lastname: Santibanez-Koref
authors.forename: Peter M
authors.initials: PM
authors.lastname: Schlag
authors.forename: Siegfried
authors.initials: S
authors.lastname: Scherneck
mesh_terms: D020137:Base Pair Mismatch / Q000235:genetics*; D001943:Breast Neoplasms / Q000235:genetics* / Q000473:pathology; D004252:DNA Mutational Analysis / Q000379:methods; D004260:DNA Repair / Q000235:genetics*; D004273:DNA, Neoplasm / Q000235:genetics; D005260:Female; D005784:Gene Amplification / Q000235:genetics; D020869:Gene Expression Profiling; D015972:Gene Expression Regulation, Neoplastic / Q000235:genetics; D006801:Humans; D018895:Microsatellite Repeats / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D009692:Nucleic Acid Heteroduplexes / Q000235:genetics; D010051:Ovarian Neoplasms / Q000235:genetics / Q000473:pathology; D010641:Phenotype; D011123:Polyploidy; D017346:Protein Serine-Threonine Kinases; D011518:Proto-Oncogene Proteins / Q000235:genetics; D019253:Proto-Oncogene Proteins c-bcl-2; D017527:Receptor, IGF Type 2 / Q000235:genetics; D000077294:Receptor, Transforming Growth Factor-beta Type II; D018125:Receptors, Transforming Growth Factor beta / Q000235:genetics; D014407:Tumor Cells, Cultured; D051028:bcl-2-Associated X Protein
chemical_list: C494826:BAX protein, human; D004273:DNA, Neoplasm; D009692:Nucleic Acid Heteroduplexes; D011518:Proto-Oncogene Proteins; D019253:Proto-Oncogene Proteins c-bcl-2; D017527:Receptor, IGF Type 2; D018125:Receptors, Transforming Growth Factor beta; D051028:bcl-2-Associated X Protein; D017346:Protein Serine-Threonine Kinases; D000077294:Receptor, Transforming Growth Factor-beta Type II