乳腺癌细胞系中微卫星不稳定性及错配修复基因突变的鉴定

Identification of microsatellite instability and mismatch repair gene mutations in breast cancer cell lines.

作者信息

Seitz Susanne, Wassmuth Peter, Plaschke Jens, Schackert Hans K, Karsten Uwe, Santibanez-Koref Mauro-F, Schlag Peter M, Scherneck Siegfried

机构信息

Abteilung Tumorgenetik, Max-Delbrück-Centrum für Molekulare Medizin, Berlin, Germany.

出版信息

Genes Chromosomes Cancer. 2003 May;37(1):29-35. doi: 10.1002/gcc.10196.

DOI:10.1002/gcc.10196

PMID:12661003

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.

摘要

目前，关于微卫星不稳定性（MSI）是否在乳腺癌发病机制中起作用，证据存在冲突。在此我们首次描述了两种乳腺癌细胞系CAL51和MT - 3中的MSI(+)表型，类似于在结直肠癌中观察到的情况。这些细胞系分别以近二倍体和超二倍体核型为特征。我们在这些细胞系的两个非编码序列（BAT - 25和BAT - 26）以及已知在MSI(+)癌症中发生突变的基因（TGFBR2、IGF2R、BAX）的编码重复序列中检测到了MSI。我们提供证据表明，错配修复（MMR）基因的失活是这些细胞系中MSI的原因。