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https://www.readbyqxmd.com/read/28528518/a-multi-gene-panel-study-in-hereditary-breast-and-ovarian-cancer-in-colombia
#1
A M Cock-Rada, C A Ossa, H I Garcia, L R Gomez
Germline mutations in BRCA1 and BRCA2 account for approximately 50% of inherited breast and ovarian cancers. Three founder mutations in BRCA1/2 have been reported in Colombia, but the pattern of mutations in other cancer susceptibility genes is unknown. This study describes the frequency and type of germline mutations in hereditary breast and/or ovarian cancer genes in a referral cancer center in Colombia. Eighty-five women referred to the oncogenetics unit of the Instituto de Cancerologia Las Americas in Medellin (Colombia), meeting testing criteria for hereditary breast and ovarian cancer syndrome (NCCN 2015), who had germline testing with a commercial 25-gene hereditary cancer panel, were included in the analysis...
May 20, 2017: Familial Cancer
https://www.readbyqxmd.com/read/28528517/loss-of-msh2-and-msh6-due-to-heterozygous-germline-defects-in-msh3-and-msh6
#2
Monika Morak, Sarah Käsbauer, Martina Kerscher, Andreas Laner, Anke M Nissen, Anna Benet-Pagès, Hans K Schackert, Gisela Keller, Trisari Massdorf, Elke Holinski-Feder
Lynch Syndrome (LS) is the most common dominantly inherited colorectal cancer (CRC) predisposition and is caused by a heterozygous germline defect in one of the DNA mismatch repair (MMR) genes MLH1, MSH2, MSH6, or PMS2. High microsatellite instability (MSI-H) and loss of MMR protein expression in tumours reflecting a defective MMR are indicators for LS, as well as a positive family history of early onset CRC. MSH2 and MSH6 form a major functional heterodimer, and MSH3 is an alternative binding partner for MSH2...
May 20, 2017: Familial Cancer
https://www.readbyqxmd.com/read/28528511/met-overexpression-and-gene-amplification-prevalence-clinico-pathological-characteristics-and-prognostic-significance-in-a-large-cohort-of-patients-with-surgically-resected-nsclc
#3
William Sterlacci, Michael Fiegl, Mathias Gugger, Lukas Bubendorf, Spasenija Savic, Alexandar Tzankov
The prevalence of overexpression and amplification of the proto-oncogene mesenchymal epithelial transition (MET) in non-small cell lung cancer (NSCLC) varies greatly in the literature. Since MET is a potential treatment target, knowledge of its prevalence and prognostic importance is crucial. We investigated MET expression and gene status in 735 NSCLC cases using tissue microarrays. Prognostic significance as well as correlations with various clinico-pathological parameters were evaluated. The prevalence of MET overexpression was 17% and MET amplification was present in 2...
May 20, 2017: Virchows Archiv: An International Journal of Pathology
https://www.readbyqxmd.com/read/28528510/immunogenomics-using-genomics-to-personalize-cancer-immunotherapy
#4
Rance C Siniard, Shuko Harada
While the use of genomic data has the potential to revolutionize patient care, there is still much work to be done with regard to the transformation of host-tumor interactions into favorable clinical outcomes for our patients. High-throughput technologies, such as next-generation sequencing (NGS), have rapidly advanced our understanding of oncology, and we are learning that most tumors do not simply possess consistently mutated genes that are responsible for tumorigenesis, facilitating the need for personalized cancer therapy...
May 20, 2017: Virchows Archiv: An International Journal of Pathology
https://www.readbyqxmd.com/read/28528497/microrna-30a-5p-mir-30a-regulates-cell-motility-and-emt-by-directly-targeting-oncogenic-tm4sf1-in-colorectal-cancer
#5
Y R Park, S L Kim, M R Lee, S Y Seo, J H Lee, S H Kim, I H Kim, S O Lee, S T Lee, Sang Wook Kim
PURPOSE: Colorectal cancer (CRC) is one of the leading causes of cancer death worldwide, and many oncogenes and tumor suppressor genes are involved in CRC. MicroRNAs (miRNAs) are small non-coding RNAs that can negatively regulate gene expression. Previous studies have revealed that miRNAs regulate the development and progression of many cancers. In this study, we investigated the role of microRNA-30a-5p (miR-30a) in CRC and its unknown mechanisms. METHODS: qRT-PCR was used to detect miR-30a and TM4SF1 mRNA expression in CRC specimens and cell lines...
May 20, 2017: Journal of Cancer Research and Clinical Oncology
https://www.readbyqxmd.com/read/28528452/tumor-suppressor-protein-p53-exerts-negative-transcriptional-regulation-on-human-sodium-iodide-symporter-gene-expression-in-breast-cancer
#6
Madhura G Kelkar, Bhushan Thakur, Abhishek Derle, Sushmita Chatterjee, Pritha Ray, Abhijit De
PURPOSE: Aberrant expression of human sodium iodide symporter (NIS) in breast cancer (BC) is well documented but the transcription factors (TF) regulating its aberrant expression is poorly known. We identify the presence of three p53 binding sites on the human NIS promoter sequence by conducting genome-wide TF analysis, and further investigate their regulatory role. METHODS: The differences in transcription and translation were measured by real-time PCR, luciferase reporter assay, site-directed mutagenesis, in vivo optical imaging, and chromatin immunoprecipitation...
May 20, 2017: Breast Cancer Research and Treatment
https://www.readbyqxmd.com/read/28528450/high-expression-of-cyclin-d1-is-associated-to-high-proliferation-rate-and-increased-risk-of-mortality-in-women-with-er-positive-but-not-in-er-negative-breast-cancers
#7
Cecilia Ahlin, Claudia Lundgren, Elin Embretsén-Varro, Karin Jirström, Carl Blomqvist, M -L Fjällskog
PURPOSE: Cyclin D1 has a central role in cell cycle control and is an important component of estrogen regulation of cell cycle progression. We have previously shown that high cyclin D expression is related to aggressive features of ER-positive but not ER-negative breast cancer. The aims of the present study were to validate this differential ER-related effect and furthermore explore the relationship between cyclin D overexpression and CCND1 gene amplification status in a node-negative breast cancer case-control study...
May 20, 2017: Breast Cancer Research and Treatment
https://www.readbyqxmd.com/read/28528332/the-persistent-m%C3%A3-llerian-duct-syndrome-an-update-based-upon-a-personal-experience-of-157-cases
#8
Jean-Yves Picard, Richard L Cate, Chrystèle Racine, Nathalie Josso
Male sex differentiation is driven by 2 hormones, testosterone and anti-müllerian hormone (AMH), responsible for the regression of müllerian ducts in male fetuses. Mutations inactivating AMH or its receptor AMHRII lead to the persistent müllerian duct syndrome (PMDS) in otherwise normally virilized 46,XY males. Our objective was to review the clinical, anatomical, and molecular features of PMDS based upon a review of the literature and upon 157 personal cases. Three clinical presentations exist: bilateral cryptorchidism, unilateral cryptorchidism with contralateral hernia, and transverse testicular ectopia...
May 20, 2017: Sexual Development: Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation
https://www.readbyqxmd.com/read/28528183/effects-of-quercetin-on-proliferation-and-migration-of-human-glioblastoma-u251-cells
#9
Yue Liu, Zhen-Gang Tang, Yi Lin, Xin-Guo Qu, Wei Lv, Guo-Bin Wang, Cai-Li Li
Quercetin is a flavonoid that has been shown to have anti-oxidation, anti-inflammation, anti-allergic, anti-viral, and anti-cancer activities. Here, we examined the effects of quercetin on cell viability, cell cycle progression, and migration in U251 cells, a human glioblastoma cell line. We found that quercetin inhibited cell proliferation after treating cells for 24 (IC50 of 113.65μg/ml) or 48h (IC50 of 48.61μg/ml). Quercetin treatment also induced apoptosis via deregulating the expression of apoptotic genes, including Bax and Bcl-2, and arrested cell cycle at G2/M phases...
May 18, 2017: Biomedicine & Pharmacotherapy, Biomédecine & Pharmacothérapie
https://www.readbyqxmd.com/read/28528167/cxcl1-inhibition-regulates-uvb-induced-skin-inflammation-and-tumorigenesis-in-xpa-deficient-mice
#10
Makoto Kunisada, Chieko Hosaka, Chihiro Takemori, Eiji Nakano, Chikako Nishigori
Xeroderma pigmentosum complementation group A (XP-A) is a hereditary disease characterized by early onset of skin cancers and freckles-like pigmented maculae in the sun-exposed sites. Although etiology of predisposition to UV-induced skin tumors in XP-A is well investigated as a repair deficiency in UV-induced DNA damage, the mechanism of exaggerated sunburn in patients with XP-A and whether UV-induced inflammation relates to skin tumor-prone phenotype remains to be elucidated. Using gene profiling of XP-A model mice, Xpa-deficient mice, we found that expression of CXCL1 in the skin and blood levels of in Xpa-deficient mice increased significantly after UVB exposure at an even a limited area in comparison to those of wild-type mice...
May 17, 2017: Journal of Investigative Dermatology
https://www.readbyqxmd.com/read/28527894/hfe-genotype-affects-exosome-phenotype-in-cancer
#11
Oliver D Mrowczynski, A B Madhankumar, Becky Slagle-Webb, Sang Y Lee, Brad E Zacharia, James R Connor
Neuroblastoma is the third most common childhood cancer, and timely diagnosis and sensitive therapeutic monitoring remain major challenges. Tumor progression and recurrence is common with little understanding of mechanisms. A major recent focus in cancer biology is the impact of exosomes on metastatic behavior and the tumor microenvironment. Exosomes have been demonstrated to contribute to the oncogenic effect on the surrounding tumor environment and also mediate resistance to therapy. The effect of genotype on exosomal phenotype has not yet been explored...
May 17, 2017: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/28527674/analysis-of-full-coding-sequence-of-the-tp53-gene-in-invasive-vulvar-cancers-implications-for-therapy
#12
Karl Kashofer, Sigrid Regauer
OBJECTIVE: This study evaluates the frequency and type of TP53 gene mutations and HPV status in 72 consecutively diagnosed primary invasive vulvar squamous cell carcinomas (SCC) during the past 5years. METHODS: DNA of formalin-fixed and paraffin embedded tumour tissue was analysed for 32 HPV subtypes and the full coding sequence of the TP53 gene, and correlated with results of p53 immunohistochemistry. RESULTS: 13/72 (18%) cancers were HPV-induced squamous cell carcinomas, of which 1/13 (8%) carcinoma harboured a somatic TP53 mutation...
May 17, 2017: Gynecologic Oncology
https://www.readbyqxmd.com/read/28527622/genome-wide-copy-number-analysis-reveals-candidate-gene-loci-that-confer-susceptibility-to-high-grade-prostate-cancer
#13
Prevathe Poniah, Shamsul Mohd Zain, Azad Hassan Abdul Razack, Shanggar Kuppusamy, Shankar Karuppayah, Hooi Sian Eng, Zahurin Mohamed
BACKGROUND: Two key issues in prostate cancer (PCa) that demand attention currently are the need for a more precise and minimally invasive screening test owing to the inaccuracy of prostate-specific antigen and differential diagnosis to distinguish advanced vs. indolent cancers. This continues to pose a tremendous challenge in diagnosis and prognosis of PCa and could potentially lead to overdiagnosis and overtreatment complications. Copy number variations (CNVs) in the human genome have been linked to various carcinomas including PCa...
May 17, 2017: Urologic Oncology
https://www.readbyqxmd.com/read/28527578/tr2-and-tr4-orphan-nuclear-receptors-an-overview
#14
Shin-Jen Lin, Dong-Rong Yang, Guosheng Yang, Chang-Yi Lin, Hong-Chiang Chang, Gonghui Li, Chawnshang Chang
Testicular nuclear receptors 2 and 4 (TR2, TR4), also known as NR2C1 and NR2C2, belong to the nuclear receptor superfamily and were first cloned in 1989 and 1994, respectively. Although classified as orphan receptors, several natural molecules, their metabolites, and synthetic compounds including polyunsaturated fatty acids (PUFAs), PUFA metabolites 13-hydroxyoctadecadienoic acid, 15-hydroxyeicosatetraenoic acid, and the antidiabetic drug thiazolidinediones can transactivate TR4. Importantly, many of these ligands/activators can also transactivate peroxisome proliferator-activated receptor gamma (PPARγ), also known as NR1C3 nuclear receptor...
2017: Current Topics in Developmental Biology
https://www.readbyqxmd.com/read/28527407/mechanisms-of-resistance-to-systemic-therapy-in-metastatic-castration-resistant-prostate-cancer
#15
REVIEW
Giuseppe Galletti, Benjamin I Leach, Linda Lam, Scott T Tagawa
Patients with metastatic castration-resistant prostate cancer (mCPRC) now have an unprecedented number of approved treatment options, including chemotherapies (docetaxel, cabazitaxel), androgen receptor (AR)-targeted therapies (enzalutamide, abiraterone), a radioisotope (radium-223) and a cancer vaccine (sipuleucel-T). However, the optimal treatment sequencing pathway is unknown, and this problem is exacerbated by the issues of primary and acquired resistance. This review focuses on mechanisms of resistance to AR-targeted therapies and taxane-based chemotherapy...
May 8, 2017: Cancer Treatment Reviews
https://www.readbyqxmd.com/read/28527373/-i-don-t-believe-it-acceptance-and-skepticism-of-genetic-health-information-among-african-american-and-white-smokers
#16
Erika A Waters, Linda Ball, Sarah Gehlert
RATIONALE: Effective translation of genomics research into practice depends on public acceptance of genomics-related health information. OBJECTIVE: To explore how smokers come to accept or reject information about the relationship between genetics and nicotine addiction. METHODS: Thirteen focus groups (N = 84) were stratified by education (seven < Bachelor's degree, six ≥ Bachelor's degree) and race (eight black, five white). Participants viewed a 1-min video describing the discovery of a genetic variant associated with increased risk of nicotine addiction and lung cancer...
May 3, 2017: Social Science & Medicine
https://www.readbyqxmd.com/read/28527352/a-cbr-framework-with-gradient-boosting-based-feature-selection-for-lung-cancer-subtype-classification
#17
Juan Ramos-González, Daniel López-Sánchez, Jose A Castellanos-Garzón, Juan F de Paz, Juan M Corchado
Molecular subtype classification represents a challenging field in lung cancer diagnosis. Although different methods have been proposed for biomarker selection, efficient discrimination between adenocarcinoma and squamous cell carcinoma in clinical practice presents several difficulties, especially when the latter is poorly differentiated. This is an area of growing importance, since certain treatments and other medical decisions are based on molecular and histological features. An urgent need exists for a system and a set of biomarkers that provide an accurate diagnosis...
May 13, 2017: Computers in Biology and Medicine
https://www.readbyqxmd.com/read/28526951/pyrocincholic-acid-3%C3%AE-o-%C3%AE-d-quinovopyranosyl-28-o-%C3%AE-d-glucopyranoside-suppresses-adipogenesis-and-regulates-lipid-metabolism-in-3t3-l1-adipocytes
#18
Li Peng, Yanting Lu, Yuhui Xu, Jing Hu, Fang Wang, Yumei Zhang, Wenyong Xiong
Obesity is crucially involved in many metabolic diseases, such as type 2 diabetes, cardiovascular disease and cancer. Regulating the number or size of adipocytes has been suggested to be a potential treatment for obesity. In this study, we investigated the effect of pyrocincholic acid 3β-O-β-D-quinovopyranosyl-28-O-β-D-glucopyranoside (PAQG), a 27-nor-oleanolic acid saponin extracted from Metadina trichotoma, on adipogenesis and lipid metabolism in 3T3-L1 adipocytes. The 3T3-L1 pre-adipocytes were incubated with vehicle or PAQG for 6 days in differentiation process...
May 19, 2017: Natural Products and Bioprospecting
https://www.readbyqxmd.com/read/28526879/musashi-1-promotes-a-cancer-stem-cell-lineage-and-chemoresistance-in-colorectal-cancer-cells
#19
Guang-Yuh Chiou, Tzu-Wei Yang, Chi-Chou Huang, Chia-Ying Tang, Jung-Yi Yen, Ming-Chang Tsai, Hsuan-Yi Chen, Nurul Fadhilah, Chun-Che Lin, Yuh-Jyh Jong
Colorectal cancers (CRCs) are a critical health issue worldwide. Cancer stem cell (CSC) lineages are associated with tumour transformation, progression, and malignant transformation. However, how lineages are transformed and how chemoresistance is acquired by CRCs remain largely unknown. In this report, we demonstrated that the RNA-binding protein Musashi-1 enhanced the development of CD44(+) colorectal CSCs and triggered the formation of anti-apoptotic stress granules (SGs). Our results indicated that CD44(+) CSC lineage-specific induction of tumour malignancies was controlled by Musashi-1...
May 19, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28526868/chitosan-dextran-sulfate-coated-doxorubicin-loaded-plga-pva-nanoparticles-caused-apoptosis-in-doxorubicin-resistance-breast-cancer-cells-through-induction-of-dna-damage
#20
Sumit Siddharth, Anmada Nayak, Deepika Nayak, Birendra Kumar Bindhani, Chanakya Nath Kundu
To overcome the toxicity, pharmacokinetics and drug resistance associated with doxorubicin (DOX), a strategy was developed by encapsulating DOX- loaded-PLGA-PVA- nanoparticles within chitosan-dextran sulfate nanoparticles (CS-DS) [CS-DS-coated-DOX-loaded -PLGA-PVA-NP] and study the sensitivity against DOX- resistance- breast cancer cells (MCF-7-DOX-R). These CS-DS and PLGA-PVA double coated DOX are spherical, stable, polydispersed and have zeta potential +2.89 mV. MCF-7- DOX-R cells were derived by exposing increasing doses of DOX in MCF-7 cells...
May 19, 2017: Scientific Reports
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