Volume 8, Issue 1 (Vol.8 No.1 Apr 2019)                   rbmb.net 2019, 8(1): 91-101 | Back to browse issues page

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Soosanabadi M, Mirfakhraie R, Atanesyan L, Biglarian A, Aghakhani Moghadam F, Rahimi M, et al . Application of Multiplex Ligation-Dependent Probe Amplification in Determining the Copy Number Alterations of HER Gene Family Members in Invasive Ductal Breast Carcinoma. rbmb.net. 2019; 8 (1) :91-101
URL: http://rbmb.net/article-1-327-en.html
Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran & Clinical Research Development Center of Rofeideh Rehabilitation Hospital, Tehran, Iran.
Abstract:   (79 Views)
Background: The aim of this study was to assess the usability of multiplex ligation-dependent probe amplification (MLPA) for copy number determination of HER gene family members (ERBB1-4) in invasive breast carcinoma and to explore the association of ERBB1-4 gene copy numbers with clinicopathological characteristics of breast cancer (BC) patients.

Methods: Clinical and immunohistochemical characteristics were assessed in 104 BC patients and the molecular subtype was determined for each tumor sample. Furthermore, HER-2/neu status was assessed by immunohistochemistry (IHC) and equivocal results were confirmed by Fluorescent in situ hybridization (FISH). The copy numbers of ERBB1-4 genes were determined by MLPA.

Results: Twenty-five percent of all patients showed ERBB2 gene-amplification by MLPA, whereas 14.4% of cases showed ERBB-2/neu overproduction at the protein level (IHC). Moreover, only 2.9% and 1.9% of patients showed amplification in ERBB1 and ERBB4, respectively. No copy number changes were observed in ERBB3. Our results indicated a significant association between ERBB2 copy number gain and histological grade (p value= 0.01), stage (p value= 0.02), and tumor subtypes (p value= <0.001). In addition, we found MLPA more accurate in assessing HER2 status with 15.4% and 9.6% gene amplification detection in early stages (1, 2A and 2B) and advanced tumor