Mutations in Exon 4 of ESR1 Gene in Iraqi Women with Breast Cancer

This study was aimed to determine the mutations and single nucleotide polymorphisms (SNPs) in exon 4 in women with breast cancer from Iraq. Different samples (blood, fresh tissue with blood from same patient, and formalin fixed paraffin embedded, FFPE). Molecular analysis of exon 4 has been studied by using PCR. It was found that exon 4 appeared as a single band with size 370. Single nucleotide polymorphisms (SNPs) were determined in exon 4 ESR1 using DNA sequence. Then, nucleotide sequences of this exon were aligned with control group (healthy women) and with NCBI. It was detected five polymorphisms (AAA, TTT, AAA, CCG, AAA, and AAC) in exon 4 of ESR1; all of them were novel SNPs, all types of polymorphism in exon 4 of ESR1were substitution. Keywords: SNPs in ESR1, ESR1 gene mutations, Breast cancer mutation

Heavy Metal Pollution and Men Infertility in Al-Falluja City

Infertilityis oneuof the most problemsathatufacingaadvancedunations. In the general, about halfof allacasesaof the infertility are causedby factors thaturelated toathe male partner. Propos educausesvofumalev infertility include evgeneticuand environmental factors. Blood samples from 64 infertileumen allawere living in urban its al-Fallujah city (30 azospermeiauand 34 oligospermeia) and 32 fertile men (asuthe control group) were collected. Heavy metal concentrations inusera of infertile and fertile groupswereumeasured by using Atomic Absorption Spectrophotometer. Y- chromosomemicrodeletions were detected by using PCR techniques. Significantdifferences (P?0.05)uin the concentration ofucopper (0.0267±0.0147 and 0.0278±0.0273, for infertileuand fertile group respectively), cadmium (0.0477± 0.0038 and 0.0446±0.0059, respectively) and zinc (1.08 ± 0.16) in fertile groupamoreover wereadetected, no deletionsawere recorded in Y Chromosome in peopleuwho exposed to heavy metals in each a azospermiavor severe oligospermia groups. Spermatogenesis disruption in theamale at any phase of cell differentiationamay be increased the abnormaluof sperm count also decrease theutotalspermucount, impair the stability of sperm chromatinuordamageain the sperm DNA

Epigenetics in Male Infertility

Male infertility is a complex medical condition, in which epigenetic factors play an important role. Epigenetics has recently gained significant scientific attention since it has added a new dimension to genomic and proteomic research. As a mechanism for maintaining genomic integrity and controlling gene expression, epigenetic modifications hold a great promise in capturing the subtle, yet very important, regulatory elements that might drive normal and abnormal sperm functions. The sperm’s epigenome is known to be marked by constant changing over spermatogenesis, which is highly susceptible to be influenced by a wide spectrum of environmental stimuli. Recently, epigenetic aberrations have been recognized as one of the causes of idiopathic male infertility. Recent advances in technology have enabled humans to study epigenetics role in male infertility

Association of Cytochrome CYP1A1 Gene Polymorphisms and Tobacco Smoking With the Risk of Breast Cancer in Women From Iraq

BackgroundCYP1A1 gene polymorphisms and tobacco smoking are among several risk factors for various types of cancers, but their influence on breast cancer remains controversial. We analyzed the possible association of CYP1A1 gene polymorphisms and tobacco smoking-related breast cancer in women from Iraq.Materials and methodsIn this case–control study, gene polymorphism of CYP1A1 gene (CYP1A1m1, T6235C and CYP1A1m2, A4889G) of 199 histologically verified breast cancer patients’ and 160 cancer-free control women’s specimens were performed by using PCR-based restriction fragment length polymorphism.ResultsThree genotype frequencies (TT, TC, and CC) of CYP1A1m1T/C appeared in 16.1, 29.6, and 54.3% of women with breast cancer, respectively, compared with 41.2, 40, and 18.8% in the control group, respectively. CYP1A1m1 CC genotype and C allele were significantly associated with increased risks for breast cancer in patients (54.3 and 69%, respectively) compared with controls (18.8 and 39%, respectively). While the three genotype frequencies (AA, AG, and GG) of CYP1A1m2A/G were detected in 20.1, 31.2, and 48.7% in patients compared with 46.3, 40.6, and 13.1% in controls, respectively. The frequency of GG genotypes and G allele was significantly higher in patients (48.7 and 64%, respectively) than in the controls (13.1 and 33%, respectively). Smoking women having either CC or GG genotypes showed a highly significant association with increased risk of breast cancer [odds ratio (OR) = 1.607, 95% confidence interval (CI) 0.91–1.64, p = 0.0001, and OR, 1.841, 95% CI, 0.88–1.67, p = 0.0001, respectively]. On the other hand, the T and A alleles of predominantly seen in healthy smoking women (83 and 85%, p = 0.0001, respectively).ConclusionThese findings indicated that both C and G alleles of CYP1A1m1 and m2 were significantly associated with elevated risk of breast cancer in Iraqi women, while the T and A alleles were predominantly seen in healthy controls which may indicate their protective role. The C and G association with breast cancer incidence was more prevalent among tobacco smoking patients. These polymorphisms may be used as biomarkers of breast cancer in women from Iraq