Covariation of copy number located at 16q22.1: New evidence in mammary ductal carcinoma

Abstract

Copy number variation (CNV) is crucial for gene regulation in humans. A number of studies have revealed that CNV contributes to the initiation and progression of cancer. In this study, we analysed four breast cancer cell lines and six fresh frozen tissues from patients to evaluate the CNV present in the genome using microarray-based comparative genomic hybridization (aCGH). Six genes located at 16q22.1 were analysed by real-time PCR. The real-time PCR analysis revealed that the loss of CDH1/E2F4 may be associated with worse clinical and pathological findings. Interestingly, covariation of CDH1, CDH3, CTCF and E2F4 was found to be associated with triple negative breast cancer and HER-2 receptor status. In conclusion, our study supports the idea that CNV at 16q22.1 in breast cancer is a frequent event; furthermore, it reveals the covariation of CDH1, CDH3, CTCF and E2F4. The role of the covariation is more complex than a simple additive effect of these four separate genes, which may provide a novel target for breast cancer.

Comparative genomic hybridization analysis of invasive ductal breast carcinomas in the Chinese population

“…Han et al used microarray CGH to reveal the existence of a significant association between deletion of 17p12 and resistance to chemotherapy in breast cancer ( 21 ). Sun et al reported that a copy number variation at 16q22.1 in breast cancer is a frequent event ( 22 ). A study performed using 11 primary breast cancers and their matched lymph node metastasis lesions revealed gains on chromosomes 1q, 8q and 17q and losses on chromosomes 6q, 8p, 9q, 13q, 16q, 17p and Xp ( 23 ).…”

Copy Number Variation of Immune-Related Genes and Their Association with Iodine in Adults with Autoimmune Thyroid Diseases

“…Therefore, it is not surprising that copy number gains or losses are critical genetic factors for diseases. To date, there have been many studies demonstrating that CNVs play important roles in the pathogenetic mechanism of complex diseases, but fewer about their relation with AITD [ 8 – 10 ].…”

Molecular Evaluation of Mmp9 in Iraqi Breast Cancer Patients.

“…Cancer is an abnormal growth of cells caused by multiple changes in gene expression leading to dysregulated balance of cell proliferation and cell death and ultimately evolving into a population of cells that can invade tissues and metastasize to distant sites (Ruddon, 2007). Breast cancer is the most frequently diagnosed cancer and is the leading cause of cancer deaths in females worldwide (Sun et al, 2012). Despite continued improvements in diagnosis, surgical techniques and chemotherapy, lethality from breast cancer remains high (Hallet et al, 2013).…”