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Ying Zhu, Kan Zhai, Juntao Ke, Jiaoyuan Li, Yajie Gong, Yang Yang, Jianbo Tian, Yi Zhang, Danyi Zou, Xiating Peng, Jing Gong, Rong Zhong, Kun Huang, Jiang Chang, Xiaoping Miao
Pancreatic cancer is a highly lethal disease with limited prognostic marker. BRAC1 and BRCA2 are two classic tumor suppressor genes which play an important role in DNA repair. Somatic mutations and germline genetic variants on BRCA1/2 have been found associated with the tumorigenesis of pancreatic cancer. However, the correlations between BRCA1/2 polymorphism and pancreatic cancer prognosis remained unknown. In this study, we genotyped three tag missense variants on BRCA1/2 in 603 sporadic pancreatic cancer patients in a Chinese population...
May 30, 2017: Oncotarget
Luis Humberto Mojica-Vázquez, Mikhail H Benetah, Aissette Baanannou, Sandra Bernat-Fabre, Bart Deplancke, David L Cribbs, Henri-Marc Bourbon, Muriel Boube
Drosophila leg morphogenesis occurs under the control of a relatively well-known genetic cascade, which mobilizes both cell signaling pathways and tissue-specific transcription factors. However, their cross-regulatory interactions, deployed to refine leg patterning, remain poorly characterized at the gene expression level. Within the genetically interacting landscape that governs limb development, the bric-à-brac2 (bab2) gene is required for distal leg segmentation. We have previously shown that the Distal-less (Dll) homeodomain and Rotund (Rn) zinc-finger activating transcription factors control limb-specific bab2 expression by binding directly a single critical leg/antennal enhancer (LAE) within the bric-à-brac locus...
April 2017: PLoS Genetics
Tasneem Kausar, Jason S Schreiber, David Karnak, Leslie A Parsels, Joshua D Parsels, Mary A Davis, Lili Zhao, Jonathan Maybaum, Theodore S Lawrence, Meredith A Morgan
To improve the efficacy of chemoradiation therapy for locally advanced pancreatic cancer and begin to establish patient selection criteria, we investigated the combination of the WEE1 inhibitor AZD1775 with gemcitabine-radiation in homologous recombination (HR) repair proficient and deficient pancreatic cancers. Sensitization to gemcitabine-radiation by AZD1775 was assessed in pancreatic cancer cells by clonogenic survival and in patient-derived xenografts by tumor growth. The contributions of HR repair inhibition and G2 checkpoint abrogation to sensitization were assessed by γH2AX, BRCA2 manipulation, and RAD51 focus formation and pHistone H3 flow cytometry, respectively...
October 2015: Neoplasia: An International Journal for Oncology Research
G Selmes, G Ferron, T Filleron, D Querleu, E Mery
OBJECTIVE: Tubal lesions detected in specimen of risk reducing salpingo oophorectomy (RRSO) for mutation BRCA1/2 seems to play a role in ovarian carcinogenesis. The main objective of this study is to evaluate the prevalence of occult neoplasia, of Serous Tubal Intraepithelial Carcinoma (STIC), and signature P53 in a cohort of patients who underwent a risk reducing salpingo oophorectomy. METHODS: From January 2010 to January 2014 unicentric, retrospective study on a consecutive cases cohort of RRSO for patients with a high risk of ovarian neoplasia (mutation BRCA 1/2 or family history)...
October 2015: Gynécologie, Obstétrique & Fertilité
Foteini Anifantaki, Ioannis Boutas, Theodoros Kalampokas, Emmanouil Kalampokas, Chrisostomos Sofoudis, Nikolaos Salakos
BACKGROUND: Endometriosis is a common, estrogen-dependent, gynecological disease, which is defined as the presence of endometrial tissue outside the uterine cavity. Current data have associated endometriosis with specific malignancies, including ovarian and breast cancer. PURPOSE: The purpose of our study is to summarize and present published literature providing evidence regarding the possible relationship between endometriosis and breast cancer. METHODS: Pubmed and Scopus databases were searched systematically for studies that sought to identify a potential association of endometriosis and breast cancer...
January 2016: Archives of Gynecology and Obstetrics
Aissette Baanannou, Luis Humberto Mojica-Vazquez, Gaylord Darras, Jean-Louis Couderc, David L Cribbs, Muriel Boube, Henri-Marc Bourbon
Most identified Drosophila appendage-patterning genes encode DNA-binding proteins, whose cross-regulatory interactions remain to be better characterized at the molecular level, notably by studying their direct binding to tissue-specific transcriptional enhancers. A fine-tuned spatio-temporal expression of bric-a-brac2 (bab2) along concentric rings is essential for proper proximo-distal (P-D) differentiation of legs and antennae. However, within the genetic interaction landscape governing limb development, no transcription factor directly controlling bab2 expression has been identified to date...
June 2013: PLoS Genetics
Clare Dyer
No abstract text is available yet for this article.
2012: BMJ: British Medical Journal
Kumaravel Somasundaram
The breast cancer associated genes BRCA1 and BRCA2 were discovered in 1994 and 1995 respectively. Since then in addition to our understanding how these proteins function in particular reference to DNA repair, enormous amount of knowledge has been gained regarding genetic epidemiology of inherited breast and ovarian cancer, mutation prevalence among different ethnic groups, presence of founder mutations, varying penetrance, genetic testing and potential management options of mutation carriers. This review will focus on the status of understanding of the role of BRCA1 and BRAC2 mutations among Indian women, structure and biology of these two genes, different methods used for mutation detection and different management options available for BRCA1 and BRCA2 mutation carriers...
September 2010: Indian Journal of Surgical Oncology
S M Edwards, D G R Evans, Q Hope, A R Norman, Y Barbachano, S Bullock, Z Kote-Jarai, J Meitz, A Falconer, P Osin, C Fisher, M Guy, S G Jhavar, A L Hall, L T O'Brien, B N Gehr-Swain, R A Wilkinson, M S Forrest, D P Dearnaley, A T Ardern-Jones, E C Page, D F Easton, R A Eeles
BACKGROUND: The germline BRCA2 mutation is associated with increased prostate cancer (PrCa) risk. We have assessed survival in young PrCa cases with a germline mutation in BRCA2 and investigated loss of heterozygosity at BRCA2 in their tumours. METHODS: Two cohorts were compared: one was a group with young-onset PrCa, tested for germline BRCA2 mutations (6 of 263 cases had a germline BRAC2 mutation), and the second was a validation set consisting of a clinical set from Manchester of known BRCA2 mutuation carriers (15 cases) with PrCa...
September 7, 2010: British Journal of Cancer
Douglas C Wallace
In the July 15, 2010, issue of Genes & Development, Yoon and colleagues (pp. 1507-1518) report that, in a siRNA knockdown survey of 6363 genes in mouse C2C12 cells, they discovered 150 genes that regulated mitochondrial biogenesis and bioenergetics. Many of these genes have been studied previously for their importance in regulating transcription, protein and nucleic acid modification, and signal transduction. Some notable examples include Brac1, Brac2, Pax4, Sin3A, Fyn, Fes, Map2k7, Map3k2, calmodulin 3, Camk1, Ube3a, and Wnt...
August 1, 2010: Genes & Development
Boris Pasche, Nengjun Yi
Epidemiologic studies of twins indicate that 20-40% of common tumors such as breast, colorectal, and prostate cancers are inherited. However, the effect of high penetrance tumor susceptibility genes such as APC, BRCA1, BRAC2, MSH1, MLH2 and MSH6 only accounts for a small fraction of these cancers. Low to moderate penetrance tumor susceptibility genes likely account for the large remaining proportion of familial cancer risk. Candidate tumor susceptibility genes have been identified based on the discovery of tumor-specific mutations, in vitro experiments, as well as animal models of cancer...
June 2010: Current Opinion in Genetics & Development
Anirban Maitra, Scott E Kern, Ralph H Hruban
Pancreatic cancer is fundamentally a disease of inherited and acquired mutations in cancer-related genes. The genes targeted in pancreatic cancer include tumor-suppressor genes (p16/CDKN2A, TP53 and SMAD4), oncogenes (KRAS, BRAF, AKT2, MYB, and AIB1), and genome-maintenance genes (MLH1, MSH2, BRAC2 and other Fanconi anemia genes). An understanding of the cancer-related genes that are altered in pancreatic cancer has a number of clinical applications including genetic counseling for individuals with a family history of cancer, early detection of pancreatic neoplasia, and mechanism-based therapies for patients with advanced disease...
April 2006: Best Practice & Research. Clinical Gastroenterology
Debbie Sprong, Hilde L Janssen, Conchita Vens, Adrian C Begg
PURPOSE: To determine the role of DNA repair in hypoxic radioresistance. METHODS AND MATERIALS: Chinese hamster cell lines with mutations in homologous recombination (XRCC2, XRCC3, BRAC2, RAD51C) or nonhomologous end-joining (DNA-PKcs) genes were irradiated under normoxic (20% oxygen) and hypoxic (<0.1% oxygen) conditions, and the oxygen enhancement ratio (OER) was calculated. In addition, Fanconi anemia fibroblasts (complementation groups C and G) were compared with fibroblasts from nonsyndrome patients...
February 1, 2006: International Journal of Radiation Oncology, Biology, Physics
Jesus M de Celis Ibeas, Sarah J Bray
In the Drosophila leg, activation of Notch leads to the establishment of the joints that subdivide the appendage into segments. We find that mutations in bowl result in similar phenotypes to Notch, causing fusion and truncations of tarsal segments (tarsomeres) and, like its close relative Odd-skipped, Bowl is produced in response to Notch signalling at a subset of segment boundaries. However, despite the fact that bowl mutant clones result in fusion of tarsomeres, Bowl protein is only found at the t1/tibial and t5/pretarsal boundaries, not at tarsomere joints...
December 2003: Development
Nicolas Gompel, Sean B Carroll
Some morphological traits differ greatly between related species, but it is not clear whether diversity evolves through changes in the same genes and whether similar, independent (that is, convergent) changes occur by the same mechanism. Pigmentation in fruitflies presents an attractive opportunity to explore these issues because pigmentation patterns are diverse, similar patterns have arisen in independent clades, and numerous genes governing their formation have been identified in Drosophila melanogaster...
August 21, 2003: Nature
Michel Aubé, Matthieu Lafrance, Isabelle Brodeur, Marie-Chantal Delisle, Madeleine Carreau
BACKGROUND: Fanconi anemia (FA) is a complex recessive genetic disease characterized by progressive bone marrow failure (BM) and a predisposition to cancer. We have previously shown using the Fancc mouse model that the progressive BM failure results from a hematopoietic stem cell defect suggesting that function of the FA genes may reside in primitive hematopoietic stem cells. METHODS: Since genes involved in stem cell differentiation and/or maintenance are usually regulated at the transcription level, we used a semiquantitative RT-PCR method to evaluate FA gene transcript levels in purified hematopoietic stem cells...
June 16, 2003: BMC Blood Disorders
Greg Donoho, Mark A Brenneman, Tracy X Cui, Dorit Donoviel, Hannes Vogel, Edwin H Goodwin, David J Chen, Paul Hasty
The Brca2 tumor-suppressor gene contributes to genomic stability, at least in part by a role in homologous recombinational repair. BRCA2 protein is presumed to function in homologous recombination through interactions with RAD51. Both exons 11 and 27 of Brca2 code for domains that interact with RAD51; exon 11 encodes eight BRC motifs, whereas exon 27 encodes a single, distinct interaction domain. Deletion of all RAD51-interacting domains causes embryonic lethality in mice. A less severe phenotype is seen with BRAC2 truncations that preserve some, but not all, of the BRC motifs...
April 2003: Genes, Chromosomes & Cancer
E Gross, N Arnold, K Pfeifer, K Bandick, M Kiechle
Denaturing high performance liquid chromatography (DHPLC) is generating increasing interest in clinical genetics as a reliable tool for the analysis of genetic alterations. In the work presented here our intentions were to optimize primer design and DHPLC analysis conditions for a qualitative detection of BRCA1 and BRCA2 variations. The BRCA1 and BRAC2 genes display a high proportion of polymorphisms. Sequencing efforts geared towards the distinction of tumor-related mutations and benign variants still remain time-consuming and expensive...
October 2000: Human Mutation
K M Dubowski, N A Essary
Recent federal rules and traffic law changes impose breath-alcohol thresholds of 0.02 and 0.04 g/210 L upon some classes of motor vehicle operators, such as juveniles and commercial vehicle operators. In federally regulated alcohol testing in the workplace, removal of covered workers from safety-sensitive duties, and other adverse actions, also occur at breath-alcohol concentrations (BrACs) of 0.02 and 0.04 g/210 L. We therefore studied performance of vapor-alcohol and breath-alcohol measurement at low alcohol concentrations in the laboratory and in the field, with current-generation evidential analyzers...
October 1999: Journal of Analytical Toxicology
R G Gullberg
Breath alcohol measurements for forensic purposes are typically not made at the time of a driving incident but at some later time. Therefore, the magnitude of variation in breath alcohol concentration (BrAC) following the time of arrest is of concern. The use of roadside preliminary breath test (PBT) instruments can provide data on BrAC closer to the time of a driving incident and allow for comparison with later evidential analysis. This retrospective study evaluates two distributions (N = 968): differences between PBT results and the first evidential breath test (PBT-BrAC1) and differences between two (duplicate) evidential breath alcohol tests (BrAC1-BrAC2)...
July 1991: Journal of Studies on Alcohol
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