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Mutations in the Additional Sex Combs Like 1 (ASXL1) gene were first reported in myelodysplastic syndromes. Recent studies have clarified the relationship between ASXL1 mutations and the development of cancers. This study aims to review the roles of ASXL1 and ASXL1 CircRNAs, such as epigenetic regulation, chromatin modification, and transcription factor function in malignancies. This study is a review of articles related to the role of ASXL1 and ASXL1 CircRNAs in malignancies, retrieved from PubMed and Scopus. ASXL1 plays a role in malignancies and is also related to poor overall survival and cancer metastasis. ASXL1 encodes conserved and abundant Circular RNAs (circRNAs) that act as post-transcriptional regulators, regulating tumorigenesis and progression in cancer. ASXL1 circRNA was identified in the top 10% of differentially expressed circRNAs in clinically relevant tissues. Additionally, the role of ASXL1 gene circRNAs in cancer development is reviewed in this study. ASXL1 and ASXL1circRNA have dual functions in combination with different proteins, being involved in both transcriptional activation and repression in a context-dependent manner. Moreover, studies indicate these genes play an important role in epithelial-mesenchymal transition (EMT) and metastasis. Ongoing research is aimed at determining this gene family's function in biological events. [ABSTRACT FROM AUTHOR]

Background: The phosphatidylinositol 3-kinases are known as a family of lipid kinases, playing a role in various cellular processes. A member of this family is PIK3CA which is frequently mutated in breast cancer. In this study, the association between H1047R, E542K and E545K mutations, and therapy resistance was investigated in Iranian breast cancer patients treated by Trastuzumab. Methods: Resistance and sensitive groups were chosen from Iranian patients treated by Trastuzumab. A PCR-RFLP approach was designed for detecting the H1047R mutation. Mutations in positions of codons E542K and E545K were detected using PCR-based DNA Sanger sequencing assay. The overall survival and disease-free survival were assessed. Results: A significant relationship was observed between the presence and absence of H1047R mutation and the overall survival (P = 0.025). In addition, there was a significant relationship between the response to Trastuzumab and some clinicopathological features, including the age and the status of ER/PR receptors (Pvalue< 0.05). E542K and E545K mutations were not observed in the patients. Conclusion: It can be said that probably H1047R mutation is a prognostic marker in the Trastuzumab-based therapy resistant breast cancer. Further studies can be performed to evaluate this mutation before using Trastuzumab to predict the effectiveness of this treatment. [ABSTRACT FROM AUTHOR]

Pregnancy‐associated breast cancer (PABC) is a poor prognosis in women, and the mortality rate is higher in this subgroup of patients than in non‐PABC. This study aims to assess clinicopathological and ultrasound features of patients with PABC. Of 75 patients with breast cancer, 31 cases were in lactating, or pregnancy phase and 44 patients had no recent history of pregnancy/lactation at the time of cancer detection. The available pathological characteristics and ultrasound findings of the PABC and non‐PABC groups were compared. The analysis of ultrasound findings demonstrated that the percentages of antiparallel orientation (p = 0.04) and heterogeneous internal echo pattern (p = 0.002) were higher in the PABC group. The final Breast Imaging Reporting and Data System (BI‐RADS) assessment in the two groups was significantly different (p = 0.008). In this study, most PABCs were BI‐RADS 4c or 5; compared with age‐matched non‐PABC cases. There were significant differences in ER (p = 0.03), receptor groups (p = 0.007), and tumor grade (p = 0.02) in PABC compared to non‐PABC group. To conclude, radiologists should be careful about ultrasound findings of PABC and recommend core needle biopsy in suspected cases. [ABSTRACT FROM AUTHOR]

Menthol in its L -isomer is a key flavoring additive mainly due to its cold-mimicking characteristics. Production of menthol in preferred L -isoform has been studied in different ways through cell-based or multiple-step biocatalyst processes. Herein, we introduce a single-step, cell-free reaction for (-)-menthol production. In this study, recombinant MMR (Menthone Menthol Reductase) was codon-optimized and expressed in Escherichia coli (E. coli) BL21 (DE3). The His-tagged protein was purified with ~ 90% efficiency using Ni-NTA affinity chromatography. The identity of the recombinant MMR was confirmed using Matrix-Assisted Laser Desorption/Ionization Mass Spectrometry (MALDI-TOF MS) through in-gel digestion process and analyzing the extracted peptides in NCBIprot database. The reductase activity of recombinant MMR in the presence of NADPH (as a cofactor) was examined through monitoring the UV-Vis absorption by NADPH at 340 nm during NADP+/ NADPH oxidation-reduction reaction. The stereospecific activity of recombinant MMR was analyzed through its interaction with (-)-menthone substrate using Chiral GC and GC-MS techniques. We observed the expected chirality (minus) in resulted menthol with 68% yield. [Display omitted] • Codon optimized sequence of MMR was designed by Vector- NTI software. • MMR was expressed in E. coli BL21 (DE3) and purified using Ni- NTA Chromatography. • Recombinant enzyme identification was explored by MALDI- TOF MS. • Enantioselective MMR activity was analyzed by GC- MS and Chiral GC. [ABSTRACT FROM AUTHOR]

Background: Breast cancer is one of the most frequent causes of cancer death in women. The application of immunotoxins to target overexpressed biomarkers on the surface of cancer cells and delivery of the toxin molecules into these cells has attracted too much attention during the last decade., Objectives: This study was conducted to investigate the possible in-vitro cytotoxic and apoptotic activity of previously designed recombinant immunotoxin compromising anti-HER2 single-chain variable fragment (scFv) and alpha-luffin protein in human epidermal growth factor receptor type 2 (HER2)-positive and HER2-negative breast cancer cell lines., Materials and Methods: The previously designed recombinant immunotoxin and alpha-luffin protein were expressed in E. coli host cells and purified using Ni-affinity chromatography. The cytotoxicity of the proteins was tested through MTT and apoptosis studies on HER2-positive and HER2-negative breast cancer cell lines., Results: Treatment of SKBR3 and MDA-MB-468 cells with the immunotoxin caused differential cytotoxicity and apoptotic events. Flow cytometry analysis indicated that the immunotoxin could arrest SKBR3 cells at the G0/G1 phase and induce apoptosis and cell death which were not observed in HER2-negative MDA-MB-468 cells. Annexin V/PI staining revealed late apoptotic events in SKBR3 cells treated with the immunotoxin which was different from the early apoptosis induced by the alpha-luffin protein alone., Conclusions: This immunotoxin could be a promising tool in developing new targeted therapeutic agents against HER2-positive cancer cells. Animal experiments are needed before making firmed conclusions., Competing Interests: The authors declare that they have no conflicts of interest.Sponsorships or competing interests that may be relevant to content are disclosed at the end of this article., (Copyright © 2023 The Author(s). Published by Wolters Kluwer Health, Inc.)