Genetic characterisation of invasive breast cancer: a comparison of CGH and PCR based multiplex microsatellite analysis

Abstract

Aims-Comparative genomic hybridisation (CGH) is a reliable tool to gain an overview of all unbalanced chromosomal alterations within a tumour. Nevertheless, the high numbers of tumour cells required and the comparatively low resolution are drawbacks of this technique. Polymerase chain reaction (PCR) based multiplex microsatellite analysis represents a semiautomated, highly reproducible method, which requires small amounts of tumour cells. This is a comparative study of CGH and microsatellite analysis. Methods-Eighty one samples of invasive breast cancer were investigated by two sensitive multiplex PCRs containing three microsatellites each of six markers (D6S261, D11S907, D6S300, D11S927, D8S272, and D11S925), and two additional microsatellite markers located within intron 1 of the epidermal growth factor recepter gene (egfr) and p53 (p53CA). Results-At least one example of loss of heterozygosity was detectable in all breast cancer tissues. However, the overall rate of accordance between the two methods tested was only 61%. An increasing rate of the number of genetic alterations in each case was mirrored by a constantly increasing fractional allelic loss index. Conclusions-PCR based multiplex microsatellite analysis using this panel of eight microsatellite markers not only enables the characterisation of cells that have malignant potential in a high frequency of patients with breast cancer, but can also give an estimate of the degree of genetic progression. (J Clin Pathol 2001;54:836-840)

High‐resolution analysis of 16q22.1 in breast carcinoma using DNA amplifiable probes (multiplex amplifiable probe hybridization technique) and immunohistochemistry

“…31,53 The percentage of 16q deletion reported varies in studies published in the medical literature according to the sensitivity of the technique used and the distribution of types of breast cancer within the series. For example, Buerger et al 54 found that the overall rate of concordance between LOH and CGH in detection of genomic copy alterations in breast cancer was 61%. In our study, deletion at 16q22.1 was detected in 63% of cases (22/35).…”

Tiling Path Genomic Profiling of Grade 3 Invasive Ductal Breast Cancers

“…These studies have also shown that deletions of the whole arm of 16q seem to be more frequently found in grade 1 luminal A breast cancers (9 -12), whereas the majority of basal-like and HER-2 cancers (which are usually of high histologic grade) lack this genetic aberration. There is now increasing evidence suggesting that grade 3 and 1 breast cancers are clinically and genetically distinct entities and that progression from grade 1 to 3 breast cancer is an uncommon biological phenomenon (9,10,12). In fact, concurrent presence of grade 1 and 3 areas in the same specimen is seen in <10% of cases (13).…”

Clinical application of array-based comparative genomic hybridization to define the relationship between multiple synchronous tumors

“…[14][15][16][17][18][19][20] The cumulative data have contributed to our understanding of the genomic heterogeneity of breast tumors and work is ongoing to determine how genomics determines both tumor phenotype and prognosis. However, there has been no single platform on which this work has been conducted, and in an era of array CGH, lack of array standardization has impeded direct comparison among groups.…”