BIRC5 genomic copy number variation in early-onset breast cancer

Background: Baculoviral inhibitor of apoptosis repeat-containing 5 [BIRC5] gene is an inhibitor of apoptosis that expresses in human embryonic tissues but it is absent in most healthy adult tissues. The copy number of BIRC5 has been indicated to be highly increased in tumor tissues; however, its association with the age of onset in breast cancer is not well understood

Methods: Forty tumor tissues of breast cancer were obtained from Tumor Bank of Cancer Institute, Imam Khomeini Hospital, Tehran, Iran. BIRC5 gene copy number variation [CNV] was evaluated using Multiplex Ligation-dependent Probe Amplification [MLPA] and then compared with the age of onset for each patient

Results: BIRC5 amplification was seen in 17.5% of cases. Also, a significant association was observed between BIRC5 gene amplification and individuals under 40 years of age [P=0.04]

Conclusion: BIRC5 gene has the potential to be a marker for the detection and prognosis of cancer at an early age

[MIR-520d expression analysis in breast cancer]

Breast cancer is the most common cancer in women. Non-coding RNAs especially miRNAs have important regulatory roles in cancer. MiRNAs are 21-24 nucleotides which have different levels of expression between tumors and normal tissues. In this study, we have analyzed expression level of miR-520d in three different groups of breast cancer. Fifty nine samples were divided into different groups according to their immunohistochemistry [IHC] classification: estrogen receptor [ER] positive and/or progesterone receptor [PR] positive group [as group I]; human epidermal growth factor receptor 2 [HER2] positive group [as group II]; and Triple negative group [as group III]. After small RNA extraction from tissues, cDNAs were synthesized and Real time RTPCR carried out using DNA binding dye. Expression levels were analyzed by LinRegPCR and REST software. MiR-520d under- expressed in all of three different groups. The expression ratio in groups I, II, and III were 0.193, 0.167, 0.21, respectively, but only the result from group II was significant [P=0.017]. According to the different clinicopathological status of breast cancer, miR-520d underexpressed significantly not only in patients with metastatic lymph node [P=0.019] but also in patients which have cancer at stage three [P=0.036]. In this study, we found that miR-520d possibly acts as a tumor suppressor. It may be useful for diagnosis of tumor from normal tissue. In addition, miR-520d significantly underexpressed in HER-2 positive group of breast cancers. Therefore, it may be useful as an additional diagnostic test in this group of breast tumors along with other biomarkers.

Myelodysplastic syndrome with 6q deletion as the sole chromosome abnormality in an Iranian patient: a case report with review of literature

The myelodysplastic syndrome [MDS] is a highly heterogenous disorder and karyotype analysis is helpful for diagnostic and prognostic estimation. Deletion in long arm chromosome 6 [6q del] as a sole abnormality is a rare event in MDS. This is the first case report of del [6q] as the only observed diagnostic change in Iran. We also reviewed the literature of this cytogenetic lesion