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Role of ESR Pathway Genes in Breast Cancer: A Review

Advances in Breast Cancer Research 2018年第2期7卷 134-186页

作者： Deepak Kumar Marilyn Rae Myers ussama al homsi Valentin Ilyin Computational Biology Carnegie Mellon University in Qatar (CMU-Q) Doha Qatar Pennsylvania State University University Park USA Hematology and Oncology Department NCCCR Hamad Medical Corporation Doha Qatar

Breast cancer is the leading cause of death in women. Prognosis of breast cancer is often pessimistic because the tumors are prone to metastasizing to the bone, brain, and lung. The estrogen signaling receptor (ESR) pathway contains 39 main genes and proteins which makes it one of the larger signaling pathways. Predominately this pathway and the proteins within are involved in breast growth and development, making it a prospective area of study for breast cancer. While the healthy ESR pathway has been constructed and is well established, a mechanistic model of mutated genes of ESR pathway has not been delved upon. Such mutated models could be utilized for selecting combinational targets for drug therapies, as well as elucidating crosstalk between other pathways and feedback mechanisms. To construct the mutated models of the ESR pathway it is imperative to assess what is currently understood in the literature and what inconsistencies exist in order to resolve them. Without this information, a model of the ESR pathway will be unreliable and likely unproductive. This review is the detailed literature survey of the biological studies performed on ESR pathways genes, and their respective roles in breast cancer. Furthermore, the details mentioned in the review can be beneficial for the integrated study of the ESR pathway genes, which includes, structural and dynamics study of the genes products, to have a holistic understanding of the cancer mechanism.

关键词： Estrogen Signaling Receptor (ESR) Pathway Breast Cancer ESR Genes Mechanistic Modeling Integrated Study Kyoto Encyclopedia of Genes and Genomes (KEGG) PubMed Literature Survey

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Screening the RFX6-DNA binding domain for potential genetic variants in patients with type 2 diabetes

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World Journal of Diabetes 2019年第3期10卷 181-187页

作者： Ismail S Mahmoud Ayat homsi Hamzeh J al-Ameer Jihad alzyoud Mais Darras Mohammad al Shhab Malek Zihlif Ma’mon M Hatmal Walhan alshaer Department of Medical Laboratory Sciences Faculty of Allied Health Sciences The Hashemite University Zarqa 13133 Jordan Cell Therapy Centre The University of Jordan Amman 11942 Jordan Department of Pharmacology Faculty of Medicine The University of Jordan Amman 11942 Jordan

BACKGROUND The regulatory factor X6 (RFX6), a member of regulatory factor X family, is known to play a key role in the development and differentiation of pancreatic beta cells as well as insulin production and secretion. However, the potential role of RFX6 in type 2 diabetes (T2D) is still unclear. AIM Recent studies have indicated that RFX6 binding to DNA could be disrupted in diabetes. Therefore, in this study we investigated whether genetic mutations are present in the DNA binding domain of RFX6 gene that could abrogate its function in T2D. METHODS A cohort of T2D patients was enrolled in this study, and the gene encoding the DNA binding domain of RFX6 was amplified by polymerase chain reaction and then analysed by direct DNA sequencing. RESULTS The DNA sequence analysis revealed the absence of any exonic mutation. However, we have identified a new heterozygous single nucleotide polymorphism (IVS6+31 C>T) in the intronic region of DNA binding domain gene that is present in 9.2% and 8.5% of diabetic and control people, respectively (P = 0.97).CONCLUSION We report the absence of any significant genetic variant that could affect the function of RFX6-DNA binding domain in T2D.

关键词： Regulatory factor X6 Genetic variant Diabetes DNA binding domain

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Re-treatment Using Cetuximab and Chemotherapy in Patients with Metastatic Colorectal Cancer Harboring Wild-type RAS Gene

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Advances in Modern Oncology Research 2018年第6期4卷 18-21页

作者： Kakil Ibrahim Rasul Mohamed U al-homsi National Center for Cancer Care and Research(NCCCR) DohaQatar.

Colorectal cancer is a heterogeneous *** mutations in genes like K-RAS,BRAF,and PI3K contribute towards a poor prognosis of the *** this report,we present the case of re-treatment of a 58-year old patient of metastatic colorectal cancer with a combination of anti-EGFR and *** patient who harbored wild-type RAS gene was administered several lines of therapies including anti-EGFR *** spite of the different regimens involved,a significant progression of disease involving metastasis to the lungs and the brain was *** re-treatment with cetuximab and chemotherapy,the quality of life improved and the tumor biomarkers ***-treatment with anti-EGFR antibodies and chemotherapeutic agents can be an option for patients showing adverse prognosis after several lines of therapies.

关键词： Metastatic colorectal cancer anti-EGFR antibodies cetuximab K-RAS chemotherapy

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