There is a growing body of data reporting the association of genetic alterations in chromosome 9P21 with the risk of developing cancer. In the current study, we studied the association of a genetic variant in CDKN2A/B, rs1333049, with the risk of developing breast cancer. A total of 339 participants with and without breast cancer entered to the study. Genotyping was done by the TaqMan real‐time polymerase chain reaction (RT‐PCR) method and gene expression analysis was ran by RT‐PCR. Our data showed that the minor allele homozygote in the total population was 10%, whereas for heterozygote was 38%. The dominant genetic model demonstrated that individuals with breast cancer had advanced TNM classification. Moreover, the logistic regression revealed that individuals who had CC/CG genotypes might have an enhanced risk of developing breast cancer when compared to the holders of GG genotype (e.g., OR = 2.8; 95% CI,1.4–5.4; p = .001), after regulated for confounders; age and body mass index. Furthermore, our analysis showed that the CDKN2A/B gene was downregulated in patients (p < .001). We showed a meaningful relationship of CDKN2A/B with the risk of breast cancer, cancer, showing the importance of studies in great sample size and several centers for studying the value of the marker as a risk classification in the management of patients with breast cancer.
BackgroundFamilial adenomatous polyposis (FAP) is a familial colorectal cancer predisposition syndrome characterized by the development of numerous colorectal polyps, which is inherited in an autosomal dominant manner. FAP is caused by germ line mutations in adenomatous polyposis coli (APC) gene. Here, we described the identification of a causative APC gene deletion associated with FAP in an Iranian family.MethodsDiagnosis of FAP was based on clinical findings, family history, and medical records (colonoscopy and histopathological data) after the patients were referred to Reza Radiotherapy and Oncology Center, Iran, for colonoscopy. Blood samples were collected, and genomic DNA was extracted. APC mutation screening was conducted by target next‐generation sequencing and quantitative real‐time PCR.ResultsA novel heterozygous large deletion mutation, c.(135+1_136–1)_(*2113+1_*2114–1) spanning exon 3 to 16 [EX3_16 DEL] of APC gene (GenBank Accession# MG712911), was detected in a proband and all her affected relatives in five generations, which was absent in unaffected family members and normal controls.ConclusionsThis novel deletion is the first report, describing the largest deletion of APC gene. Our novel finding contributes to a more comprehensive database of germ line mutations of APC gene that could be used in medical practice for the molecular diagnosis, risk assessment susceptibility of the disease for the FAP patients.
Highlights Abstract Introduction: Snuffbox arteriovenous fistula (AVF) is one of the most common vascular accesses for hemodialysis. Despite all the advantages, it is not usually considered the first choice of treatment. This could be primarily due to difficulty in its technical procedure and a higher probability of failure than other sites such as cubital. Therefore, the present study aimed at comparing the efficacy and patency rate between the snuffbox and the wrist AVF. Methods: Seventy-eight patients with end-stage renal disease were enrolled in this study. They were randomly assigned into the snuffbox and the wrist groups. Each participant had an appropriate vein at the time of examination and was eligible for distal AVF creation. The procedure was conducted under local anesthesia, and arteriovenous anastomosis was done in an end-to-side configuration. AVF maturation was defined by initiation of successful dialysis through the AVF 8–10 weeks postoperatively. Results: The results showed that 61% of snuffbox AVFs and 65% of wrist AVFs became matured and were used for further dialysis. Diabetes and female sex had negative impacts on AVF patency. In addition, no significant relationship was found between the patency rate and demographic as well as clinical variables such as age, hypertension, and duration of the previous dialysis. Conclusions: No significant differences were found in the maturation and patency rate between the wrist and the snuffbox AVFs. Therefore, the snuffbox fistula is recommended in the first step, as there would be a possibility for re-creation on the ipsilateral wrist once the AVF fails.
The transforming growth factor-beta (TGF-β) signaling pathway has been reported to be dysregulated in the pathogenesis of several malignancies including gynecologic cancers. This provides a proof of concept of its potential value as a therapeutic target and prognostic biomarker in cervical cancer. Here we provide an overview on the biological role and clinical impact of TGF-β inhibitors either as a single agent or as a combinatorial therapy in gynecological cancers, concentrating on phase I to phase II/III clinical trials. Aberrant TGF-β signaling may lead to carcinogenesis. Inhibition of TGF-β represents an interesting area of focus for the treatment of gynecological cancer. There are several TGF-β inhibitors which are potential anticancer agents and are undergoing clinical trials in cancer, including galunisertib, dalantercept, and vigil. There is a growing body of data showing the potential therapeutic impact of targeting the TGF-β pathway in different cancer types, although further studies are still warranted to explore the value of this strategy and finding the most appropriate patients who could most benefit from therapy.
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