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https://www.readbyqxmd.com/read/28528517/loss-of-msh2-and-msh6-due-to-heterozygous-germline-defects-in-msh3-and-msh6
#1
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/28528233/sex-versus-parthenogenesis-immune-function-in-a-facultatively-parthenogenetic-phasmatid-extatosoma-tiaratum
#2
Yasaman Alavi, Mark Adrian Elgar, Therésa Melanie Jones
Facultative parthenogenetic species, in which females can alternate between sex and parthenogenesis, are useful models to investigate the costs and benefits of sex and parthenogenesis, an ongoing issue in biology. The necessary empirical studies comparing the outcomes of alternative reproductive modes on life history traits are rare and focus mainly on traits directly associated with reproductive fitness. Immune function determines the ability of individuals to defend themselves against injury and disease and is therefore likely to have a significant impact on fitness...
May 17, 2017: Journal of Insect Physiology
https://www.readbyqxmd.com/read/28525661/comparison-between-mononucleotide-and-dinucleotide-marker-panels-in-gastric-cancer-with-loss-of-hmlh1-or-hmsh2-expression
#3
Jeong Goo Kim, Soyoung Shin, Joonhong Park
BACKGROUND: DNA mismatch repair deficiency is an important molecular mechanism of genetic instability in gastric cancer, and a high instability at microsatellites is associated with favorable prognosis. We compared mononucleotide and dinucleotide microsatellite instability (MSI) marker panels in 56 paired gastric tumor and normal samples. METHODS: The mononucleotide marker panel (mono panel) consisted of 8 markers: BAT25, BAT26, BAT40, BAT-RII, NR21, NR22, NR24 and NR27...
May 16, 2017: International Journal of Biological Markers
https://www.readbyqxmd.com/read/28522861/comparative-analysis-of-dendrobium-plastomes-and-utility-of-plastomic-mutational-hotspots
#4
Niu Zhitao, Zhu Shuying, Pan Jiajia, Li Ludan, Sun Jing, Ding Xiaoyu
Dendrobium is one of the largest genera in Orchidaceae, comprising about 800-1500 species mainly distributed in tropical Asia, Australasia, and Australia. There are 74 species and two varieties of this genus in China. Because of their ornamental and commercial value, Dendrobium orchids have been studied at low taxonomic levels. However, structural changes and effective mutational hotspots of Dendrobium plastomes have rarely been documented. Here, 30 Dendrobium plastomes were compared, comprising 25 newly sequenced in this study and five previously published...
May 18, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28522602/can-microsatellite-status-of-colorectal-cancer-be-reliably-assessed-after-neoadjuvant-therapy
#5
Jennifer B Goldstein, William Wu, Ester Borras, Gita Masand, Amanda Cuddy, Maureen E Mork, Sarah Bannon, Patrick M Lynch, Miguel Rodriguez-Bigas, Melissa Taggart, Ji Wu, Paul Scheet, Scott Kopetz, Y Nancy You, Eduardo Vilar
Purpose: Determination of microsatellite instability (MSI) by PCR is the gold standard; however, immunohistochemistry (IHC) of mismatch repair (MMR) proteins is frequently performed instead. The reliability of these methods on post-neoadjuvant-therapy specimens is unknown.  We examined the effect of neoadjuvant therapy on MSI results by PCR and IHC. Experimental design: A total of 239 colorectal cancers resected after neoadjuvant therapy were assessed for MSI with PCR and IHC. PCR and IHC results for matched paired pre- and post-treatment specimens were compared...
May 18, 2017: Clinical Cancer Research: An Official Journal of the American Association for Cancer Research
https://www.readbyqxmd.com/read/28521483/use-of-laser-capture-microdissection-allows-detection-of-loss-of-heterozygosity-in-chromosome-9p-in-breast-cancer
#6
Margarida Figueiredo Dias, Robert Blumenstein, Jose Russo
The present study was designed to determine whether loss of heterozygosity (LOH) in the p arm of chromosome 9 in invasive ductal carcinoma of the breast is detected during the neoplastic progression of the disease. Using laser capture microdissection (LCM) epithelial cells were isolated from 14 invasive ductal carcinoma cases (IDC), ductal carcinomas in situ (DCIS), normal mammary lobules, skin and/or lymph nodes of paraffin embedded tissue sections. LOH analysis of chromosome 9p was performed utilizing the microsatellite markers D9S199, D9S157, D9S171, D9S265 and D9S270...
May 2017: Oncology Letters
https://www.readbyqxmd.com/read/28515943/evaluation-of-dosing-strategy-for-pembrolizumab-for-oncology-indications
#7
Tomoko Freshwater, Anna Kondic, Malidi Ahamadi, Claire H Li, Rik de Greef, Dinesh de Alwis, Julie A Stone
BACKGROUND: Traditionally, most monoclonal antibodies (mAbs) have been dosed based on body weight because of perceived contribution of body size in pharmacokinetic variability. The same approach was used in the initial pembrolizumab studies; however, following availability of PK data, the need for weight-based dosing for pembrolizumab was reassessed. METHODS: A previously established population PK (popPK) model as well as exposure-response results from patients with advanced melanoma or non-small cell lung cancer (NSCLC) were used to evaluate the potential application of a fixed dosing regimen with the aim of maintaining pembrolizumab exposures within the range demonstrated to provide near maximal efficacy and acceptable safety...
2017: Journal for Immunotherapy of Cancer
https://www.readbyqxmd.com/read/28515868/postglacial-recolonization-shaped-the-genetic-diversity-of-the-winter-moth-operophtera-brumata-in-europe
#8
Jeremy C Andersen, Nathan P Havill, Adalgisa Caccone, Joseph S Elkinton
Changes in climate conditions, particularly during the Quaternary climatic oscillations, have long been recognized to be important for shaping patterns of species diversity. For species residing in the western Palearctic, two commonly observed genetic patterns resulting from these cycles are as follows: (1) that the numbers and distributions of genetic lineages correspond with the use of geographically distinct glacial refugia and (2) that southern populations are generally more diverse than northern populations (the "southern richness, northern purity" paradigm)...
May 2017: Ecology and Evolution
https://www.readbyqxmd.com/read/28515867/the-evolution-of-the-major-histocompatibility-complex-in-upstream-versus-downstream-river-populations-of-the-longnose-dace
#9
Erika Crispo, Haley R Tunna, Noreen Hussain, Silvia S Rodriguez, Scott A Pavey, Leland J Jackson, Sean M Rogers
Populations in upstream versus downstream river locations can be exposed to vastly different environmental and ecological conditions and can thus harbor different genetic resources due to selection and neutral processes. An interesting question is how upstream-downstream directionality in rivers affects the evolution of immune response genes. We used next-generation amplicon sequencing to identify eight alleles of the major histocompatibility complex (MHC) class II β exon 2 in the cyprinid longnose dace (Rhinichthys cataractae) from three rivers in Alberta, upstream and downstream of municipal and agricultural areas along contaminant gradients...
May 2017: Ecology and Evolution
https://www.readbyqxmd.com/read/28515782/ecotypic-differentiation-under-farmers-selection-molecular-insights-into-the-domestication-of-pachyrhizus-rich-ex-dc-fabaceae-in-the-peruvian-andes
#10
Marc Delêtre, Beatriz Soengas, Prem Jai Vidaurre, Rosa Isela Meneses, Octavio Delgado Vásquez, Isabel Oré Balbín, Monica Santayana, Bettina Heider, Marten Sørensen
Understanding the distribution of crop genetic diversity in relation to environmental factors can give insights into the eco-evolutionary processes involved in plant domestication. Yam beans (Pachyrhizus Rich. ex DC.) are leguminous crops native to South and Central America that are grown for their tuberous roots but are seed-propagated. Using a landscape genetic approach, we examined correlations between environmental factors and phylogeographic patterns of genetic diversity in Pachyrhizus landrace populations...
June 2017: Evolutionary Applications
https://www.readbyqxmd.com/read/28515483/refuges-and-host-shift-pathways-of-host-specialized-aphids-aphis-gossypii
#11
Xiang-Dong Liu, Ting-Ting Xu, Hai-Xia Lei
Polyphagous cotton-melon aphid populations usually comprise cotton- and cucurbit-specialized biotypes. Host-specialized aphids are prone to food shortages. Cucumber, the favourite food of cucurbit-specialized aphids, is usually absent during autumn and winter in Nanjing, China. Therefore, suboptimal host plants act as refuges and govern the population dynamics of this aphid. The species, growth stages and leaf ages of host plants that cotton- and cucurbit-specialized aphids potentially could use were explored in this study...
May 17, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28515078/shifting-quaternary-migration-patterns-in-the-bahamian-archipelago-evidence-from-the-zamia-pumila-complex-at-the-northern-limits-of-the-caribbean-island-biodiversity-hotspot
#12
Dayana E Salas-Leiva, Alan W Meerow, Michael Calonje, Javier Francisco-Ortega, M Patrick Griffith, Kyoko Nakamura, Vanessa Sánchez, Lindy Knowles, David Knowles
PREMISE OF THE STUDY: The Bahamas archipelago is formed by young, tectonically stable carbonate banks that harbor direct geological evidence of global ice-volume changes. We sought to detect signatures of major changes on gene flow patterns and reconstruct the phylogeographic history of the monophyletic Zamia pumila complex across the Bahamas. METHODS: Nuclear molecular markers with both high and low mutation rates were used to capture two different time scale signatures and test several gene flow and demographic hypotheses...
May 17, 2017: American Journal of Botany
https://www.readbyqxmd.com/read/28512763/impact-of-mlh1-expression-on-tumour-evolution-after-curative-surgical-tumour-resection-in-a-murine-orthotopic-xenograft-model-for-human-msi-colon-cancer
#13
Katy Meunier, Marianne Ferron, Claire Calmel, Jean-François Fléjou, Marc Pocard, Françoise Praz
Colorectal cancers (CRCs) displaying microsatellite instability (MSI) most often result from MLH1 deficiency. The aim of this study was to assess the impact of MLH1 expression per se on tumour evolution after curative surgical resection using a xenograft tumour model. Transplantable tumours established with the human MLH1-deficient HCT116 cell line and its MLH1-complemented isogenic clone, mlh1-3, were implanted onto the caecum of NOD/SCID mice. Curative surgical resection was performed at day 10 in half of the animals...
May 16, 2017: Genes, Chromosomes & Cancer
https://www.readbyqxmd.com/read/28510250/a-set-of-novel-microsatellite-markers-developed-for-an-economically-important-tree-dracontomelon-duperreanum-in-china
#14
Z F Wang, H L Cao, L F Wu, Y Guo, Q M Mei, M Li, Y Wang, Z M Wang
Dracontomelon duperreanum, the most representative species of the family Anacardiaceae, is an important multipurpose tree in China and Vietnam. However, no genetic diversity studies have been reported on this species. In this study, we identified 11 microsatellite markers for D. duperreanum by using the restriction-site-associated DNA sequencing (RAD-seq) method and examined their polymorphisms in 22 samples obtained from the South China Botanical Garden, South China. We could detect only two or three alleles for each microsatellite marker...
May 10, 2017: Genetics and Molecular Research: GMR
https://www.readbyqxmd.com/read/28510247/characterization-and-development-of-56-est-ssr-markers-derived-from-the-transcriptome-of-odontobutis-potamophila
#15
P P Wang, M Ren, S Q Chen, S W Yin, C Zhao, H Y Zhang, X R Li, Q Q Cao, G Q Zhou
Expressed sequence tags (ETSs) are the sources of microsatellite development. In this study, we isolated and characterized microsatellite markers for Odontobutis potamophila by using Illumina RNA-sequencing. We sequenced a large number of ESTs and screened 200 potential microsatellites. Consequently, a total of 56 novel polymorphic microsatellite repeat markers were identified in thirty-two individuals from a wild population area (Jiande, Zhejiang Province, China). The number of alleles per locus varied from two to eight, the observed heterozygosity (HO) ranged from 0...
May 10, 2017: Genetics and Molecular Research: GMR
https://www.readbyqxmd.com/read/28510098/body-mass-index-and-risk-of-colorectal-carcinoma-subtypes-classified-by-tumor-differentiation-status
#16
Akiko Hanyuda, Yin Cao, Tsuyoshi Hamada, Jonathan A Nowak, Zhi Rong Qian, Yohei Masugi, Annacarolina da Silva, Li Liu, Keisuke Kosumi, Thing Rinda Soong, Iny Jhun, Kana Wu, Xuehong Zhang, Mingyang Song, Jeffrey A Meyerhardt, Andrew T Chan, Charles S Fuchs, Edward L Giovannucci, Shuji Ogino, Reiko Nishihara
Previous studies suggest that abnormal energy balance status may dysregulate intestinal epithelial homeostasis and promote colorectal carcinogenesis, yet little is known about how host energy balance and obesity influence enterocyte differentiation during carcinogenesis. We hypothesized that the association between high body mass index (BMI) and colorectal carcinoma incidence might differ according to tumor histopathologic differentiation status. Using databases of the Nurses' Health Study and Health Professionals Follow-up Study, and duplication-method Cox proportional hazards models, we prospectively examined an association between BMI and the incidence of colorectal carcinoma subtypes classified by differentiation features...
May 16, 2017: European Journal of Epidemiology
https://www.readbyqxmd.com/read/28510097/ago-austria-recommendation-on-screening-and-diagnosis-of-lynch-syndrome-ls
#17
Alain G Zeimet, Harald Mori, Edgar Petru, Stephan Polterauer, Alexander Reinthaller, Christian Schauer, Tonja Scholl-Firon, Christian Singer, Katharina Wimmer, Johannes Zschocke, Christian Marth
PURPOSE: This manuscript reports the consensus recommendations on screening and diagnosis of Lynch syndrome (LS) in patients with endometrial or ovarian cancer as well as on possible preventive measures in effectively LS-diagnosed women. The recommendations are issued by the Austrian Arbeitsgemeinschaft für Gynäkologische Onkologie (AGO) of the Österreichischen Gesellschaft für Gynäkologie und Geburtshilfe (OEGGG) after consultation of the most recent and relevant literature and following deliberation by the Genetic Task-Force convoked May, 2015 by the AGO Council...
May 16, 2017: Archives of Gynecology and Obstetrics
https://www.readbyqxmd.com/read/28509323/triple-negative-endometrial-cancer
#18
Michał Bulsa, Elżbieta Urasińska
Endometrial cancer (EC) is the most common malignancy of the female genital tract in the developed countries. In Poland, EC incidence increased from 3.496 to 5.251 between 2000 and 2011, with 5.251 new cases were diagnosed in 2011 alone, and this upward trend is expected to continue. There are two types of endometrial cancer: estrogen- related type I (approximately 80% of the cases) and unrelated to estrogen type II. Type I includes adenocarcinomas which grow slowly, have better prognosis, superficially infiltrate the myometrium, originate from endometrial hyperplasia without atypia, and occur before and after menopause...
2017: Ginekologia Polska
https://www.readbyqxmd.com/read/28507809/t-cell-therapy-targeting-a-public-neoantigen-in-microsatellite-instable-colon-cancer-reduces-in-vivo-tumor-growth
#19
Else M Inderberg, Sébastien Wälchli, Marit R Myhre, Sissel Trachsel, Hilde Almåsbak, Gunnar Kvalheim, Gustav Gaudernack
T-cell receptor (TCR) transfer is an attractive strategy to increase the number of cancer-specific T cells in adoptive cell therapy. However, recent clinical and pre-clinical findings indicate that careful consideration of the target antigen is required to limit the risk of off-target toxicity. Directing T cells against mutated proteins such as frequently occurring frameshift mutations may thus be a safer alternative to tumor-associated self-antigens. Furthermore, such frameshift mutations result in novel polypeptides allowing selection of TCRs from the non-tolerant T-cell repertoire circumventing the problem of low affinity TCRs due to central tolerance...
2017: Oncoimmunology
https://www.readbyqxmd.com/read/28507641/a-case-report-of-muir-torre-syndrome-in-a-woman-with-breast-cancer-and-msi-low-skin-squamous-cell-carcinoma
#20
Caroline Kientz, Marie-Odile Joly, Laurence Faivre, Alix Clemenson, Sophie Dalac, Côme Lepage, Caroline Chapusot, Caroline Jacquot, Renaud Schiappa, Marine Lebrun
BACKGROUND: The tumor spectrum in the Lynch syndrome is well defined, comprising an increased risk of developing colonic and extracolonic malignancies. Muir-Torre syndrome is a variant with a higher risk of skin disease. Patients have been described carrying mutations in the mismatch repair genes and presenting tumors with unusual histology or affected organ not part of the Lynch syndrome spectrum. Hence, the real link between Lynch syndrome, or Muir-Torre syndrome, and these tumors remains difficult to assess...
2017: Hereditary Cancer in Clinical Practice
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