الفهرس 
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Abstract
Multiple myeloma is the most common malignant neoplasm of plasma cells that accumulate in the bone marrow, leading to bone destruction and marrow failure.
MM is characterized by the presence of monoclonal protein in the serum and/or urine and evidence of organ failure.
The disease spans a wide range of presentations from asymptomatic disease discovered accidentally in routine work up to severe symptoms related to BM infiltration or due to end organ damage (hypercalcemia, renal dysfunction, anemia and bone disease; i.e: CRAB)
Studying the genetic architecture of MM has come into focus due to the role of cytogenetics and molecular aberrations in disease diagnosis, prognosis and response to treatment.
Adenosine triphosphate-binding cassette transporter subfamily G (ABCG2) encodes breast cancer resistance protein (BCRP) that acts as an efflux pump and plays a critical role in protecting cells against xenobiotics and toxic compounds.
Polymorphism in the ABCG2 gene may affect protein expression and function. Moreover, it is associated with low levels of BCRP expression.
C421A polymorphism in the ABCG2 gene may affect susceptibility to cancer development such as in hematological and solid tumors. Therefore, several studies have tried to identify the role of SNPs with susceptibility, survival, and treatment outcomes of different malignancies.
The aim of the present work was to study the association between ABCG2 gene SNP C421A in exon 5 (rs2231142) and the clinico-pathological findings and prognostic factors of multiple myeloma in a cohort of the Egyptian population.
The current study was carried out on fifty MM patients of both sexes admitted to Alexandria main university hospital and fifty healthy individuals of matching age and sex as a control group.
All subjects included in the current study were subjected to history taking, clinical examination, laboratory investigations, radiological investigations and molecular study of DNA polymorphism which was performed by TaqMan SNP genotyping assay ( Applied BiosystemsTM) using QIAamp DNA Blood Mini kit followed by quantitative real-time PCR using specific TaqMan SNP genotyping assay and TaqMan genotyping master mix.
The present study showed that there was significant correlation between ABCG2 C421A polymorphism and increased susceptibility to MM. CA + AA genotypes might contribute to the prediction of MM risk.
Furthermore, there was a significant correlation between C/A genotype and serum calcium concentration.
In addition, it was demonstrated that cases showing CA + AA genotypes might contribute to the prediction of MM risk as estimated by univariate and multivariate analysis.
ABCG2 gene C421A polymorphism might be used as a marker to identify individuals that are more predisposed to MM.