Microbiology and Biotechnology Research Lab, Department of Environmental Sciences, Fatima Jinnah Women University, Rawalpindi, Pakistan.
Microbiology and Biotechnology Research Lab, Department of Biotechnology, Fatima Jinnah Women University, Rawalpindi, Pakistan.
Afr Health Sci. 2022 Dec;22(4):1-9. doi: 10.4314/ahs.v22i4.2.
Increasing trend of breast cancer incidence worldwide is a known fact. This curable disease may become fatal if drug resistance is developed leading to metastatic cancerous tissue.
This is a two parts study; a meta-analysis exploring association of drug resistance (mdr1 and ABCG2) genes with breast cancer and mutational association with molecular subtypes of cancer. Methods: PCR-SSCP for genomic polymorphisms and RT-PCR for expression analysis were performed.
C3435T polymorphism of mdr1 gene was most commonly studied mutation with contradictory results. Association of ABCG2 gene mutations with untreated breast cancer was reported only by one study so far. Regarding current genomic analysis of mdr1 gene, three novel mutations were found in exon 12 and 2 mutations were found in exon 26. In ABCG2 gene, addition of C and T were found in intron 8 at the intron-exon junction. A positive correlation was observed between these mutations and tumor grade. Levels of mRNA expression revealed that they were over expressed in cancerous tissues compared with controls.
These findings suggest that these genes are associated with breast cancer.
全世界乳腺癌发病率呈上升趋势，这是一个已知的事实。如果产生耐药性导致转移性癌组织，这种可治愈的疾病可能会变得致命。
这是一项两部分的研究；一项探索耐药性（mdr1 和 ABCG2）基因与乳腺癌的相关性以及与癌症分子亚型突变相关性的荟萃分析。方法：进行了聚合酶链式反应-单链构象多态性（PCR-SSCP）用于基因组多态性分析和逆转录聚合酶链式反应（RT-PCR）用于表达分析。
mdr1 基因的 C3435T 多态性是最常研究的突变，但结果存在争议。迄今为止，只有一项研究报道了 ABCG2 基因突变与未经治疗的乳腺癌之间的关联。关于目前对 mdr1 基因的基因组分析，在exon 12 中发现了三个新的突变，在 exon 26 中发现了两个突变。在 ABCG2 基因中，在内含子-外显子交界处的内含子 8 中发现了 C 和 T 的添加。这些突变与肿瘤分级之间存在正相关关系。mRNA 表达水平表明，与对照相比，它们在癌组织中过度表达。
这些发现表明这些基因与乳腺癌有关。
