Genomic Instability with Non- Homologues Chromosomes in Aneuploid Cell Increase Risk Factor for the Development of BreastCancer Patients

Abstract

Chromosome aberrations (CAs) play an important role in tumor initiation, followed by metastasis. Short-term peripheral blood lymphocyte (PBL) cultures using RPMI-1640 media with 5 % FBS were used to evaluate the frequency of structural and numerical chromosome aberrations in breast cancer patients. Highest frequency of aneuploidy (11.53%) were observed followed by trisomy -21(8.93%) in karyotypes. De-novo mutation involving 12q21 with loss of 16.38 Mbp DNA fragment is the most relevant finding in breast cancer (BC) patients and has not been reported earlier. Secondly, role of trisomy-21 (8.93%) might have increase genetic susceptibility of disease because of “giant satellites”, are the active sites of rRNA sub unit of 18S and 28S. These active sites might have increase gene-expression of truncated protein during tumor Significant increase in the frequency of aneuploidy with increased number of non-homologous chromosome was the striking feature due to increase of non-disjunction event followed by unequal crossing-over and synapse formation by known environmental factors like arsenic. However, the present study is small, but interesting to explore the etiopathology of BC patients associated chromosome instability. However, further study is required to confirm these changes, whether these mutations are either familial (inherited) or spontaneous in nature.