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.

A high-resolution integrated analysis of genetic and expression profiles of breast cancer cell lines

“…As expected, HMECs and MCF10A cells displayed a simplex profile. Interestingly, CAL51, which harbours DNA mismatch repair (MMR) deficiency and is known to have microsatellite instability [32], displayed minimal changes in the genome, corroborating the hypothesis that cancers/cell lines with MMR deficiency usually have simple karyotypes [33]. No correlation between ER expression and genomic architecture was observed in the cell lines analysed.…”

Microsatellite instability analysis of bilateral breast tumors suggests treatment-related origin of some contralateral malignancies

“…Surprisingly, we observed several tumors with the "colonic" type MSI, which is very uncommon for cancers of the breast (Adem et al 2003;Anbazhagan et al 1999;Halford et al 2003;Seitz et al 2003;Siah et al 2000;Zhou et al 1998). Here we present an update of our earlier investigation, which contains the following improvements: (1) contrary to the report (Imyanitov et al 2000), the analysis of MSI was the primary goal of this study; therefore, MSI-speciWc markers were used instead of the ones designed for the analysis of losses of heterozygosity; (2) the collection of biBC tumors was signiWcantly enlarged; (3) the control group of unilateral breast carcinomas (BC) was examined as well.…”

Molecular Mechanisms Associated with Chromosomal and Microsatellite Instability in Sporadic Glioblastoma multiforme

“…Primer sequences and PCR conditions were described previously [23]. The breast cancer cell line CAL51 was used as positive control [38]. …”