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Detection of some mutations in some Mitotic Checkpoint Genes and their Association to Tissue Abnormalities in patients with Breast Cancer

Mahdi Saber Al-Deresawi
Aseel Razaq Al-Rekabi
Journal of Progressive Medical Sciences, Vol. 1 No. 2 (2025): Journal of Progressive Medical Sciences
Published: 2025-08-31

Abstract

Background: Breast cancer is a multifactorial disease, and several genetic and non-genetic factors contribute to its malignancy. The checkpoint genes Bub1, Bub1B, and MAD2L1 have been shown to be relatively uncommon mutations in cancer. This study aimed to screen for some mutations in some of the mitotic checkpoint genes, including MAD1L1, BUB1, and BUB1B. Materials and Methods: Thirty breast cancer biopsy specimens or formalin-fixed, paraffin-embedded (FFPE) tissue were isolated. Then, the patient information of the breast cancer patient was recorded. Histological examination and then genomic DNA extraction were performed for all samples. In the next step, DNA purity and concentration were estimated. For MAD1L1, BUB1 and BUB1B genes, initial design was performed and polymerase chain reaction (PCR) and then gel electrophoresis were performed for PCR products. Electrophoresis bands were cleaned and DNA was sequenced and finally statistical analysis was performed. Results: Histological examination showed differences in shape, orientation, and echo pattern between the invasive cancers and DCIS. An irregular shape (72% vs. 35%), a not parallel orientation (42% vs. 9%), and a hypoechoic or complex echo pattern (92% vs. 6%) were more frequent in invasive cancers when compared with the DCIS cases. The results of matching the sequence obtained according to Sanger method with Chromas version 2.6.6 software showed there were multiple mutations in study genes.  Conclusion: In the present study, after histological examining and PCR product sequencing of all samples, it was determined that all the samples studied had altered genotypes in terms and this alteration associated to histological abnormalities 

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Author Biography

Mahdi Saber Al-Deresawi
None
Aseel Razaq Al-Rekabi
None
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