Mutation detection in exons 3, 10, 12 of BRCA1 gene in 30 patients affected with familial breast cancer

Breast Cancer is one of the most common causes of death due to Cancer in women. More than half of hereditary breast/ovarian Cancer families could be attributed to mutation in breast Cancer susceptibility gene BRCA1. This study was performed on blood samples of 30 women who affected with familial breast Cancer. Non-radioactive PCR-SSCP technique was utilized mutation screening in exons 3, 10, 12 of BRCA1 gene. Two shifts in exon 3 and also two in exon 12 was detected, but no shift in exon 10 was found. Due to low number of

Mutation analysis of BRCA1 and BRCA2 genes in Iranian high risk breast cancer families

Background: Telomerase is a ribonucleoprotein enzyme that synthesises telomeres after cell division and maintains chromosomal stability leading to cellular immortalization. Telomerase has been associated with negative prognostic indicators in some studies. The present study aims to detect any association between telomerase sub-units: hTERT and hTR and the prognostic indicators including tumour's size and grade, nodal status and patient's age. Methods: Tumour samples from 46 patients with primary invasive breast cancer and 3 patients with benign tumours were collected. RT-PCR analysis was used for the detection of hTR, hTERT, and PGM1 (as a housekeeping) genes expression. Results: The expression of hTR and hTERT was found in 31(67.4%) and 38 (82.6%) samples respectively. We observed a significant association between hTR gene expression and younger age at diagnosis (p = 0.019) when comparing patients ≤ 40 years with those who are older than 40 years. None of the benign tumours expressed hTR gene. However, the expression of hTERT gene was revealed in 2 samples. No significant association between hTR and hTERT expression and tumour's grade, stage and nodal status was seen. Conclusion: The expression of hTR and hTERT seems to be independent of tumour's stage. hTR expression probably plays a greater role in mammary tumourogenesis in younger women (≤ 40 years) and this may have therapeutic implications in the context of hTR targeting strategies

The association between telomerase activity and expression of its RNA component (hTR) in breast cancer patients: the importance of DNase treatment

Telomerase is a ribonucleoprotein enzyme that compensates for the telomere length shortening which occurs during the cell cycle. Telomerase activity has been detected in most tumours but not in somatic cells. However, hTR; the RNA component of telomerase; has been reported to be universally expressed in both cancerous and non-cancerous tissues. Tumour samples from 50 patients with primary invasive breast cancer were collected. The TRAP assay was used to detect telomerase activity. RT-PCR on cDNA and DNased cDNA samples and control groups was used to detect the expression of hTR, GAPDH and PGM1 genes. Seventy-two percent of samples showed telomerase activity. DNA contamination was detected in 36 (72%) of RNA samples. Without performing DNase treatment, 49 (98%) of all samples showed hTR expression, but with the application of this strategy, hTR expression decreased from 98% to 64%. A significant association (p < 0.001) between hTR expression and telomerase activity was observed. Among the 32 hTR positive samples, 30 had telomerase activity and among the 18 hTR negative samples, telomerase activity was observed in 6 cases. Thus the application of this strategy could provide an applicable tool to use instead of the TRAP assay thus facilitating telomerase research in cancer genetic investigations

Association of Follicular Fluid Antioxidants Activity with Aging and In Vitro Fertilization Outcome: A Cross-Sectional Study

Background: This research was aimed at assessing the relationship between the follicular fluid (FF) antioxidantsactivity, aging and in vitro fertilization (IVF) outcome.Materials and Methods: The present cross-sectional study was carried out on 65 women undergoing IVF/intracytoplasmicsperm injection (IVF/ICSI) cycles due to unexplained infertility. Ovarian stimulation was performed using thelong gonadotropin-releasing hormone (GnRH) agonist protocol. After ovum pickup, FF was collected and processedto measure the level of superoxide dismutase (SOD), catalase (CAT) activity, total antioxidant capacity (TAC) andglutathione (GSH). Day 3 after ICSI, fresh embryos were transferred and later, possible pregnancy was assessed.Patients participating in this study were divided into four groups on the basis of age and pregnancy outcome.Results: SOD activity was not significantly different between the groups (P=0.218). GSH in the group whose participantswere aged ≤35 years and were pregnant was higher than that in other groups. CAT activity in groups withyounger participants was higher compared to the other groups. The mean TAC was higher in groups with pregnantparticipants compared to the non-pregnant women. Correlation analysis showed that: GSH level had a significantnegative correlation with age (P<0.001, R -0.55) and a significant positive correlation with pregnancy (P=0.015,R=0.30). CAT level also had a significant negative correlation with age (P<0.001, R=-0.42) and the level of TAC hada significant positive correlation with pregnancy (P<0.001, R=0.59).Conclusion: According to our results, the levels of TAC, GSH and CAT in younger and pregnant women were highercompared with those undergoing ICSI cycles. Given the correlation of FF antioxidant activity with age and pregnancy,it is necessary to carry out more research on these compounds and the maintenance of pregnancy

A Comprehensive Focus on Global Spectrum of BRCA1 and BRCA2 Mutations in Breast Cancer

Breast cancer (BC) is the most common cancer of women all over the world. BRCA1 and BRCA2 gene mutations comprise the most important genetic susceptibility of BC. Except for few common mutations, the spectrum of BRCA1 and BRCA2 mutations is heterogeneous in diverse populations. 185AGdel and 5382insC are the most important BRCA1 and BRCA2 alterations which have been encountered in most of the populations. After those Ashkenazi founder mutations, 300T>G also demonstrated sparse frequency in African American and European populations. This review affords quick access to the most frequent alterations among various populations which could be helpful in BRCA screening programs

Exploration of Involved Key Genes and Signaling Diversityin Brain Tumors

Abstract Brain tumors are becoming a major cause ofdeath. The classification of brain tumors has gone throughrestructuring with regard to some criteria such as thepresence or absence of a specific genetic alteration in the2016 central nervous system World Health Organizationupdate. Two categories of genes with a leading role intumorigenesis and cancer induction include tumor suppressorgenes and oncogenes; tumor suppressor genes areinactivated through a variety of mechanisms that result intheir loss of function. As for the oncogenes, overexpressionand amplification are the most common mechanisms ofalteration. Important cell cycle genes such as p53, ATM,cyclin D2, and Rb have shown altered expression patternsin different brain tumors such as meningioma and astrocytoma.Some genes in signaling pathways have a role inbrain tumorigenesis. These pathways include hedgehog,EGFR, Notch, hippo, MAPK, PI3K/Akt, and WNT signaling.It has been shown that telomere length in somebrain tumor samples is shortened compared to that innormal cells. As the shortening of telomere length triggerschromosome instability early in brain tumors, it could leadto initiation of cancer. On the other hand, telomeraseactivity was positive in some brain tumors. It is suggestivethat telomere length and telomerase activity are importantdiagnostic markers in brain tumors. This review focuses onbrain tumors with regard to the status of oncogenes, tumorsuppressors, cell cycle genes, and genes in signalingpathways as well as the role of telomere length andtelomerase in brain tumors.Keywords Brain tumors Oncogenes Tumor suppressorgenes Cell cycle genes Signaling pathways Telomerelength Telomerase activit

A cytogenetic study of couples with repeated spontaneous abortions

<b>Background</b> <b>and Objective :</b> The frequency of chromosomal aberrations in Iran is not definitely known. This study determined the frequency of chromosomal aberrations in a series of couples with two or more spontaneous abortions and compared the findings with that reported from other countries. <b>Methods</b> : This was a descriptive study conducted on 100 couples with recurrent abortions. Both partners were karyotyped as part of the primary investigation. Other probable causes of abortion were also investigated. <b>Results</b> : Chromosomal aberrations were found in 8 (8&#x0025;) of the females and 5 (5&#x0025;) of the males. The prevalence of chromosomal abnormalities was as follows: 4 (30.8&#x0025;) balanced reciprocal translocations, 3 (23&#x0025;) Robertsonian translocations, 3 (23&#x0025;) pericentric inversions, 1 (7.7&#x0025;) paracentric inversion, 1 (7.7&#x0025;) chromosomal marker, and 1 (7.7&#x0025;) polymorphism 9qh&#x002B;. <b>Conclusions</b> : The pattern of chromosomal aberrations was similar to that reported in other studies, but the prevalence of chromosomal aberrations was higher