Medical Journal of the Islamic Republic of Iran, 30, 369, 2016
The importance of BRCA1 and BRCA2 genes mutations in breast cancer development
Mansoureh Akouchekian , Amir Mehrgou
Author affiliations (2)
Assistant Professor, Department of Medical Genetics and Molecular Biology, School of Medicine, Iran University of Medical Sciences, Tehran, Iran. mackouch@yahoo.com , akouchekian.m@iums.ac.ir.
MSc Student, Department of Medical Genetics and Molecular Biology, School of Medicine, Iran University of Medical Sciences, Tehran, Iran. amirmehrgo@yahoo.com.
Many factors including genetic, environmental, and acquired are involved in breast cancer development across various societies. Among all of these factors in families with a history of breast cancer throughout several generations, genetics, like predisposing genes to develop this disease, should be considered more. Early detection of mutation carriers in these genes, in turn, can play an important role in its prevention. Because this disease has a high prevalence in half of the global population, female screening of reported mutations in predisposing genes, which have been seen in breast cancer patients, seems necessary. In this review, a number of mutations in two predisposing genes (BRCA1 and BRCA2) that occurred in patients with a family history was investigated. We studied published articles about mutations in genes predisposed to breast cancer between 2000 and 2015. We then summarized and classified reported mutations in these two genes to recommend some exons which have a high potential to mutate. According to previous studies, exons have been reported as most mutated exons presented in this article. Considering the large size and high cost of screening all exons in these two genes in patients with a family history, especially in developing countries, the results of this review article can be beneficial and helpful in the selection of exon to screen for patients with this disease.
BRCA1 BRCA2 mutations breast cancer, hereditary breast cancer genetic risk, tumor suppressor gene breast cancer, BRCA mutation carrier detection, genetic predisposition breast cancer, BRCA germline mutations screening, familial breast cancer genetics, DNA repair gene breast cancer, breast cancer susceptibility genes, early detection BRCA mutation carriers
PMID 27493913 27493913
Cite this article
Mehrgou, A., & Akouchekian, M. (2016). The importance of BRCA1 and BRCA2 genes mutations in breast cancer development. Medical Journal of the Islamic Republic of Iran, 30, 369.
Mehrgou A, Akouchekian M. The importance of BRCA1 and BRCA2 genes mutations in breast cancer development. Med J Islam Repub Iran. 2016;30:369.
Mehrgou, Amir, and Mansoureh Akouchekian. "The importance of BRCA1 and BRCA2 genes mutations in breast cancer development." Medical journal of the Islamic Republic of Iran, vol. 30, 2016, pp. 369.
Sexual dysfunction is a common disorder among women, especially during menopause. Metabolic syndrome is a multifactorial disease that, according to previous studies, there is a relationship between the metabolic syndrome and sexual dysfunction among women. The aim of this systematic review and meta-analysis is to obtain the prevalence of Female Sexual Dysfunction (FSD) among women with metabolic syndrome, and to analyze available related evidence. In this systematic review and meta-analysis, the keywords of MeSH, female sexual dysfunction, FSD, metabolic syndrome were searched in PubMed, Web of Science, Scopus, Science Direct and Google Scholar. The searches were conducted without a lower time limit and until May 2022. The prevalence of FSD among women with metabolic syndrome was found to be 39.3% (95% CI: 28.3-51.5). In the subgroup analysis and in the review of 4 studies, the prevalence of sexual dysfunction in postmenopausal women with metabolic syndrome was 49.8% (95% CI: 26.1-73.6). Analyzing the results of the meta-regression test in examining the effect of the three factors of sample size, year of the study, age, and BMI of the patients on the heterogeneity of the meta-analysis, showed that with the increase of the sample size, the prevalence of sexual dysfunction among women with metabolic syndrome decreases (p < 0.05). Moreover, the prevalence of sexual dysfunction among women with metabolic syndrome increases (p < 0.05) with the increase in the years of conducting studies and the mean of age of women with metabolic syndrome. Also, with increasing mean of BMI of female patients with metabolic syndrome, the prevalence of sexual dysfunction in these women also increases (p < 0.05). Female sexual dysfunction is a global health problem that can affect women's life to a great extent. Metabolic syndrome, which is a set of factors such as obesity, high blood pressure, and diabetes, affects sexual dysfunction in women. From this study, it can be concluded that there is a close relationship between metabolic syndrome and female sexual dysfunction.
Cesarean delivery is a major source of maternal morbidity, and repeat cesarean delivery accounts for 40% of cesarean delivery, but recent data on the trial of labor after cesarean and vaginal birth after cesarean are limited. This study aimed to report the national rates of trial of labor after cesarean and vaginal birth after cesarean by number of previous cesarean deliveries and examine the effect of demographic and clinical characteristics on these rates. This was a population-based cohort study using the US natality data files. The study sample was restricted to 4,135,247 nonanomalous singleton, cephalic deliveries between 37 and 42 weeks of gestation, with a history of previous cesarean delivery and delivered in a hospital between 2010 and 2019. Deliveries were grouped by number of previous cesarean deliveries (1, 2, or ≥3). The trial of labor after cesarean (deliveries with labor among deliveries with previous cesarean delivery) and vaginal birth after cesarean (vaginal deliveries among trial of labor after cesarean) rates were computed for each year. The rates were further subgrouped by history of previous vaginal delivery. Year of delivery, number of previous cesarean deliveries, history of previous cesarean delivery, age, race and ethnicity, maternal education, obesity, diabetes mellitus, hypertension, inadequate prenatal care, Medicaid payer, and gestational age were examined concerning the trial of labor after cesarean and vaginal birth after cesarean using multiple logistic regression. SAS software (version 9.4) was used for all analyses. The trial of labor after cesarean rates increased from 14.4% in 2010 to 19.6% in 2019 (P<.001). This trend was seen in all categories of number of previous cesarean deliveries. Moreover, vaginal birth after cesarean rates increased from 68.5% in 2010 to 74.3% in 2019. The trial of labor after cesarean and vaginal birth after cesarean rates were the highest for deliveries with a history of both 1 previous cesarean delivery and a vaginal delivery (28.9% and 79.7%, respectively) and the lowest for those with a history of ≥3 previous cesarean deliveries and no history of vaginal delivery (4.5% and 46.9%, respectively). Factors associated with the trial of labor after cesarean and vaginal birth after cesarean rates are similar, but several factors have different directions of effect, such as non-White race and ethnicity, which is associated with a higher likelihood of trial of labor after cesarean but a lower likelihood of successful vaginal birth after cesarean. More than 80% of patients with a history of previous cesarean delivery deliver by repeat scheduled cesarean delivery. With vaginal birth after cesarean rates increasing among those who attempt a trial of labor after cesarean, emphasis should be put on safely increasing the trial of labor after cesarean rates.
Approximately 60% of women develop a uterine niche after a cesarean delivery (CD). A niche is associated with various gynecological symptoms including abnormal uterine bleeding, pain, and infertility, but there is little consensus in the literature on the distinction between the sonographic finding of a niche and the constellation of associated symptoms. To achieve consensus on defining the clinical condition that constitutes a symptomatic uterine niche and agree upon diagnostic criteria and uniform nomenclature for this condition.
Design, Setting, A consensus based modified electronic Delphi (eDelphi) study, with a predefined Rate of Agreement (RoA) of 70% or higher. Experts were selected according to their expertise with niche-related consultations, publications, and participation in expert groups and received online questionnaires between November 2021 and May 2022. Definition, nomenclature, symptoms, conditions to exclude, and diagnostic criteria of an illness caused by a symptomatic uterine niche. In total, 31 of the 60 invited experts (51.7%) participated, of whom the majority worked in university-affiliated hospitals (28 of 31 [90.3%]), specialized in benign gynecology (20 of 31 [64.5%]), and worked in Europe (24 of 31 [77.4%]). Three rounds were required to achieve consensus on all items. All participants underlined the relevance of a new term for a condition caused by a symptomatic niche and its differentiation from a sonographic finding only. Experts agreed to name this condition cesarean scar disorder, defined as a uterine niche in combination with at least 1 primary or 2 secondary symptoms (RoA, 77.8%). Defined primary symptoms were postmenstrual spotting, pain during uterine bleeding, technical issues with catheter insertion during embryo transfer, and secondary unexplained infertility combined with intrauterine fluid. Secondary symptoms were dyspareunia, abnormal vaginal discharge, chronic pelvic pain, avoiding sexual intercourse, odor associated with abnormal blood loss, secondary unexplained infertility, secondary infertility despite assisted reproductive technology, negative self-image, and discomfort during participation in leisure activities. Consensus was also achieved on certain criteria that should be met and conditions that should be excluded before making the diagnosis. In this modified Delphi study, a panel of 31 international niche experts reached consensus for the constellation of symptoms secondary to a uterine niche and named it cesarean scar disorder.
Modern urban human activities are largely restricted to the indoors, deprived of direct sunlight containing visible and near-infrared (NIR) wavelengths at high irradiance levels. Therapeutic exposure to doses of red and NIR, known as photobiomodulation (PBM), has been effective for a broad range of conditions. In a double-blind, randomized, placebo-controlled study, we aimed to assess the effects of a PBM home set-up on various aspects of well-being, health, sleep, and circadian rhythms in healthy human subjects with mild sleep complaints. The effects of three NIR light (850 nm) doses (1, 4, or 6.5 J·cm(-2)) were examined against the placebo. Exposure was presented five days per week between 9:30 am and 12:30 pm for four consecutive weeks. The study was conducted in both summer and winter to include seasonal variation. The results showed PBM treatment only at 6.5 J·cm(-2) to have consistent positive benefits on well-being and health, specifically improving mood, reducing drowsiness, reducing IFN-γ, and resting heart rate. This was only observed in winter. No significant effects on sleep or circadian rhythms were noted. This study provides further evidence that adequate exposure to NIR, especially during low sunlight conditions, such as in the winter, can be beneficial for human health and wellness.