GATA3 somatic mutations are associated with clinicopathological features and expression profile in TCGA breast cancer patients

Acknowledgments This work was mainly conducted in a sabbatical period at the Discipline of Genetics, Faculty of Medicine, Memorial University, St. John’s, Canada (FA), with the financial support from the Mashhad University of Medical Sciences, Mashhad, Iran. Authors gratefully acknowledge the use of data generated by TCGA Research Network (https://www.cancer.gov/tcga). Funding Information: This work was financially supported by Mashhad University of Medical Sciences under grant 931185. Supplementary Information: The online version contains supplementary material available at https://doi. org/10.1038/s41598-020-80680-9.Peer reviewedPublisher PD

Prevalence of Respiratory Disorders during Sleep among Subjects of Methadone Maintenance Therapy Program

Background: Respiratory disorders during sleep are considered a health problem affecting the life quality. There is some evidence indicating the higher prevalence of apnea in substance-dependent patients. However, there is no information on the prevalence of the disease in people under methadone maintenance therapy (MMT). Therefore, the present study was designed to estimate the disease rate in these patients and consider the relationship of the increasing risk of apnea with some psychiatric problems.Methods: Study group included 152 individuals under the MMT program. Baseline data were collected with the interview, and patients were considered using the STOP-BANG questionnaire to evaluate the risk of apnea. Furthermore, Epworth Sleepiness Scale (ESS), Fatigue Severity Scale (FSS), Hamilton Anxiety Rating Scale (HAM-A), and Hamilton Depression Rating Scale (HDRS) tests were performed for all participants. Data were analyzed using SPSS software.Findings: Based on the STOP-BANG score categories, 37.5%, 40.1%, and 22.4% of patients indicated low, intermediate, and high risk of apnea, respectively. Moreover, severe daytime sleepiness, fatigue, depression, and anxiety were observed in 5.3%, 5.5%, 6.0%, and 21.1% of participants, respectively. Sex (P = 0.007) and daytime sleepiness (P = 0.048) were significantly different between low and high-risk groups of apnea after adjustment. Besides, age (P < 0.001) and fatigue (P = 0.007) were factors predicting the STOP-BANG score.Conclusion: These findings revealed the higher prevalence of apnea in MMT patients compared to the general population of Iran and rising of the risk of apnea along with an increase in age and fatigue score. However, attention to the sleep disorders in MMT is a prominent factor that should be considered as a route of therapy

The Dilemma of TP53 Codon 72 Polymorphism (rs1042522) and Breast Cancer Risk : A Case-Control Study and Meta-Analysis in The Iranian Population

The authors would like to thank all participants in this research. We would also like to thank Mashhad University of Medical Sciences and Omid Hospital (Mashhad, Iran) for their support to the project. This work was financially supported by Mashhad University of Medical Sciences under Grant No. 930891. No potential conflict of interest was reported by the authors.Peer reviewedPublisher PD

Age-related Variation in Expression of Breast Cancer Tumour Markers in Iranian Patients

Background: There are believed to be several risk factors affecting the prognosis of breast cancer through their effect on the growth rate of tumour. In the present study, we investigated estrogen receptor (ER), progesterone receptor (PR), human epidermal growth factor receptor 2 (HER2), Ki-67, and tumor protein P53 (TP53) as well-known biomarkers, particularly in breast cancer prognosis, associated with age. Method: In a case-control study, 406 breast cancer patients were considered retrospectively. In order to extract the clinical and pathologic data, we employed the patients’ records. The extracted information was compared between two groups: for patients under 40 (group I) and above 40 years of age (group II). Herein, the researchers performed statistical analysis using SPSS Ver16. Results: The most prevalent type of cancer in both groups was found to be invasive ductal carcinoma. The major method of treatment was modified radical mastectomy. According to our observations, grade 3 breast cancer was more common in group I. Lymph node involvement significantly increased in group I, while oestrogen and progesterone receptor expressions were less in this group. HER2, TP53, and Ki-67 oncogenes were overexpressed in group I compared with group II. Conclusion: Expression of HER2, TP53, and Ki-67 biomarkers and a reduction in the number of hormonal receptors in younger patients (<40YO) indicated that breast cancer might be more invasive in younger women with breast cancer and therefore, they might have poorer prognosis and less favourable outcomes

Genetic contribution of caspase-8 variants and haplotypes to breast cancer risk and prognosis: a case-control study in Iran

Abstract Purpose Multiple genome-wide and candidate-gene association studies have been conducted to search for common risk variants of breast cancer. Recent large meta-analyses and consolidating evidence have highlighted the role of the caspase-8 gene in breast cancer pathogenesis. Therefore, this study aimed to identify common variations and haplotypes associated with risk and overall survival of breast cancer with respect to underlying susceptibility variants in the CASP8 gene region in a group of the Iranian population. Methods In a case-control study with a total of 1008 samples (455 cases and 553 controls), genotyping of 12 candidate polymorphisms, consisting of rs3834129, rs2037815, rs7608692, rs12990906, rs3769821, rs6435074, rs3754934, rs3817578, rs10931936, rs1045485, rs1045487, and rs13113, were performed using PCR-based methods, including ARMS-PCR, AS-PCR, RFLP-PCR, HRM-PCR, and TaqMan-PCR. Results rs3834129, rs3754934, rs12990906, and rs10931936 were associated with the risk and overall survival of breast cancer. Several haplotypes were also identified an associated with a higher risk of breast cancer, including a three-SNP haplotype rs3817578-rs10931936-rs1045485 [p < 0.001, OR = 1.78(1.32–2.41)]. rs3754934-C allele showed an association with a lower risk of death in all patients [p = 0.022; HR = 0.46(0.23–0.89)] and in the hormone-receptor-positive group [p = 0.038; HR = 0.37(0.14–0.95)], as well as CC genotype in the hormone-receptor-positive group [p = 0.002; HR = 0.09(0.02–0.43)]. Conclusion The present study suggests a diagnostic and prognostic role of CASP8 gene variations in breast cancer. The risky haplotypes are likely to have one or more underlying breast cancer susceptibility alleles. Understanding the mode of action of these alleles will aid individual-level risk prediction. It also may help identify at-risk patients to provide them with better surveillance

Evaluating the association between ccr5delta32 polymorphism (Rs333) and the risk of breast cancer in a cohort of Iranian population

Funding Information: This manuscript was supported by the Student Research Committee of Mashhad University of science (Grant Numbers: 951734 & 961689).Peer reviewedPublisher PD

Association of SMAD7 genetic markers and haplotypes with colorectal cancer risk

Funding Information: This work was based on the Master of Science thesis of Ms. Maryam Alidoust and was financially supported by Mashhad University of Medical Sciences (Grant No: 951659).Peer reviewedPublisher PD