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https://www.readbyqxmd.com/read/28944238/targeted-sequencing-of-36-known-or-putative-colorectal-cancer-susceptibility-genes
#1
Melissa S DeRycke, Shanaka Gunawardena, Jessica R Balcom, Angela M Pickart, Lindsey A Waltman, Amy J French, Shannon McDonnell, Shaun M Riska, Zachary C Fogarty, Melissa C Larson, Sumit Middha, Bruce W Eckloff, Yan W Asmann, Matthew J Ferber, Robert W Haile, Steven Gallinger, Mark Clendenning, Christophe Rosty, Aung K Win, Daniel D Buchanan, John L Hopper, Polly A Newcomb, Loic Le Marchand, Ellen L Goode, Noralane M Lindor, Stephen N Thibodeau
BACKGROUND: Mutations in several genes predispose to colorectal cancer. Genetic testing for hereditary colorectal cancer syndromes was previously limited to single gene tests; thus, only a very limited number of genes were tested, and rarely those infrequently mutated in colorectal cancer. Next-generation sequencing technologies have made it possible to sequencing panels of genes known and suspected to influence colorectal cancer susceptibility. METHODS: Targeted sequencing of 36 known or putative CRC susceptibility genes was conducted for 1231 CRC cases from five subsets: (1) Familial Colorectal Cancer Type X (n = 153); (2) CRC unselected by tumor immunohistochemical or microsatellite stability testing (n = 548); (3) young onset (age <50 years) (n = 333); (4) proficient mismatch repair (MMR) in cases diagnosed at ≥50 years (n = 68); and (5) deficient MMR CRCs with no germline mutations in MLH1, MSH2, MSH6, or PMS2 (n = 129)...
September 2017: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/28944037/clonal-structure-through-space-and-time-high-stability-in-the-holothurian-stichopus-chloronotus-echinodermata
#2
Agathe Pirog, Pauline Gélin, Alexandre Bédier, Grégoire Bianchetti, Stéphane Georget, Patrick Frouin, Hélène Magalon
Sea cucumbers are increasingly exploited for human consumption and for their curative properties, and many wild populations are now depleted or in danger of extinction. While aquaculture is seen as an alternative to fisheries and as a mean to restore wild populations, more knowledge is needed on their reproductive strategies to render this practice efficient, notably for fissiparous holothurians, which are some of the mobile animals able of asexual reproduction by transverse fission. Little information is available on their population genetic diversity and structure...
September 2017: Ecology and Evolution
https://www.readbyqxmd.com/read/28944033/timing-is-everything-fishing-season-placement-may-represent-the-most-important-angling-induced-evolutionary-pressure-on-atlantic-salmon-populations
#3
Alison C Harvey, Yongkai Tang, Vidar Wennevik, Øystein Skaala, Kevin A Glover
Fisheries-induced evolution can change the trajectory of wild fish populations by selectively targeting certain phenotypes. For important fish species like Atlantic salmon, this could have large implications for their conservation and management. Most salmon rivers are managed by specifying an angling season of predetermined length based on population demography, which is typically established from catch statistics. Given the circularity of using catch statistics to estimate demographic parameters, it may be difficult to quantify the selective nature of angling and its evolutionary impact...
September 2017: Ecology and Evolution
https://www.readbyqxmd.com/read/28944016/allometric-trajectories-of-body-and-head-morphology-in-three-sympatric-arctic-charr-salvelinus-alpinus-l-morphs
#4
Marianne Knutsdotter Simonsen, Anna Siwertsson, Colin Ean Adams, Per-Arne Amundsen, Kim Præbel, Rune Knudsen
A study of body and head development in three sympatric reproductively isolated Arctic charr (Salvelinus alpinus (L.)) morphs from a subarctic lake (Skogsfjordvatn, northern Norway) revealed allometric trajectories that resulted in morphological differences. The three morphs were ecologically assigned to a littoral omnivore, a profundal benthivore and a profundal piscivore, and this was confirmed by genetic analyses (microsatellites). Principal component analysis was used to identify the variables responsible for most of the morphological variation of the body and head shape...
September 2017: Ecology and Evolution
https://www.readbyqxmd.com/read/28944013/population-size-center-periphery-and-seed-dispersers-effects-on-the-genetic-diversity-and-population-structure-of-the-mediterranean-relict-shrub-cneorum-tricoccon
#5
Ana Lázaro-Nogal, Silvia Matesanz, Alfredo García-Fernández, Anna Traveset, Fernando Valladares
The effect of population size on population genetic diversity and structure has rarely been studied jointly with other factors such as the position of a population within the species' distribution range or the presence of mutualistic partners influencing dispersal. Understanding these determining factors for genetic variation is critical for conservation of relict plants that are generally suffering from genetic deterioration. Working with 16 populations of the vulnerable relict shrub Cneorum tricoccon throughout the majority of its western Mediterranean distribution range, and using nine polymorphic microsatellite markers, we examined the effects of periphery (peripheral vs...
September 2017: Ecology and Evolution
https://www.readbyqxmd.com/read/28942235/the-pattern-of-lymph-node-metastases-in-microsatellite-unstable-gastric-cancer
#6
Karol Polom, Daniele Marrelli, Valeria Pascale, Francesco Ferrara, Costantino Voglino, Mario Marini, Franco Roviello
BACKGROUND: Microsatellite instability (MSI) is one of the new groups of molecular divisions of gastric cancer (GC). The aim of this study was to investigate the pattern of lymph node metastasis according to MSI status. METHODS: MSI analysis of 361 GC patients with information about lymph node stations was performed using 5 quasimonomorphic mononucleotide repeats. The metastasis rates for each lymphatic station was analyzed, combined with clinicopathologic characteristics...
September 14, 2017: European Journal of Surgical Oncology
https://www.readbyqxmd.com/read/28940664/a-novel-histological-examination-with-dynamic-3d-reconstruction-from-multiple-immunohistochemically-stained-sections-of-a-programmed-cell-death-ligand-1-positive-colon-cancer
#7
Shotaro Korehisa, Tetsuo Ikeda, Shinji Okano, Hiroshi Saeki, Eiji Oki, Yoshinao Oda, Makoto Hashizume, Yoshihiko Maehara
AIMS: Programmed cell death-ligand 1 (PD-L1) expression is observed in patients with high level microsatellite instability (MSI-H) colon cancer, which is susceptible to immune checkpoint blockade. The aim of this study was to investigate the interrelationship between PD-L1-positive cells and cytotoxic T cells, lymphatic vessels, and vascular endothelium using histological examination with the three-dimensional (3D) reconstruction of a PD-L1-positive colon cancer. METHODS AND RESULTS: Serial sections of MSI-H colon cancer tissue were stained with haematoxylin and eosin (H&E) and Masson trichrome stains; PD-L1, CD8, D2-40, and CD31 immunohistochemistry were performed...
September 21, 2017: Histopathology
https://www.readbyqxmd.com/read/28940104/an-american-termite-in-paris-temporal-colony-dynamics
#8
Guillaume Baudouin, Franck Dedeine, Nicolas Bech, Stéphanie Bankhead-Dronnet, Simon Dupont, Anne-Geneviève Bagnères
Termites of the genus Reticulitermes are widespread invaders, particularly in urban habitats. Their cryptic and subterranean lifestyle makes them difficult to detect, and we know little about their colony dynamics over time. In this study we examined the persistence of Reticulitermes flavipes (Kollar) colonies in the city of Paris over a period of 15 years. The aim was (1) to define the boundaries of colonies sampled within the same four areas over two sampling periods, (2) to determine whether the colonies identified during the first sampling period persisted to the second sampling period, and (3) to compare the results obtained when colonies were delineated using a standard population genetic approach versus a Bayesian clustering method that combined both spatial and genetic information...
September 22, 2017: Genetica
https://www.readbyqxmd.com/read/28938605/combined-prognostic-effect-of-pd-l1-expression-and-immunoscore-in-microsatellite-unstable-advanced-gastric-cancers
#9
Kyung-Ju Kim, Han Kwang Yang, Woo Ho Kim, Gyeong Hoon Kang
BACKGROUND: The aim of this study was to evaluate how programmed death-ligand-1 (PD-L1) expression is linked to the immunoscore in the context of the tumor microenvironment and to assess the differential prognostic value of PD-L1 expression according to the immunoscore in 153 patients with microsatellite instability-high (MSI-H) advanced gastric cancer (GC). RESULTS: We found that T-PD-L1 (+) and I-PD-L1 (+) were significantly associated with a high immunoscore...
August 29, 2017: Oncotarget
https://www.readbyqxmd.com/read/28937020/unique-characteristics-of-arid1a-mutation-and-protein-level-in-gastric-and-colorectal-cancer-a-meta-analysis
#10
REVIEW
Young-Sik Kim, Hoiseon Jeong, Jung-Woo Choi, Hwa Eun Oh, Ju-Han Lee
BACKGROUND/AIM: Recently, AT-rich interactive domain-containing 1A protein (ARID1A) has been identified as a novel tumor suppressor gene in gastric cancer (GC) and colorectal cancer (CRC). However, the clinicopathologic value of ARID1A mutation or protein level in GC and CRC patients is controversial. Hence, we conducted a meta-analysis on the relationship between ARID1A aberrations and clinicopathologic parameters in GC and CRC. MATERIALS AND METHODS: Relevant published studies were selected from PubMed and EMBASE...
September 2017: Saudi Journal of Gastroenterology: Official Journal of the Saudi Gastroenterology Association
https://www.readbyqxmd.com/read/28934671/the-hnf1a-mutant-ala180val-clinical-challenges-in-determining-causality-of-a-rare-hnf1a-variant-in-familial-diabetes
#11
J V Sagen, L Bjørkhaug, B I Haukanes, L Grevle, J Molnes, B G Nedrebø, O Søvik, P R Njølstad, S Johansson, A Molven
AIMS: Heterozygous mutations in hepatocyte nuclear factor-1A (HNF1A) cause maturity-onset diabetes of the young type 3 (MODY3). Our aim was to compare two families with suspected dominantly inherited diabetes and a new HNF1A variant of unknown clinical significance. METHODS: The HNF1A gene was sequenced in two independently recruited families from the Norwegian MODY Registry. Both familes were phenotyped clinically and biochemically. Microsatellite markers around and within the HNF1A locus were used for haplotyping...
September 1, 2017: Diabetes Research and Clinical Practice
https://www.readbyqxmd.com/read/28932924/when-gis-zooms-in-spatio-genetic-maps-of-multipaternity-in-armadillidium-vulgare
#12
Nicolas Bech, Charlotte Depeux, Sylvine Durand, Catherine Debenest, Alexandra Lafitte, Sophie Beltran-Bech
Geographic information system (GIS) tools are designed to illustrate, analyse and integrate geographic or spatial data, usually on a macroscopic scale. By contrast, genetic tools focus on a microscopic scale. Because in reality, landscapes have no predefined scale, our original study aims to develop a new approach, combining both cartographic and genetic approaches to explore microscopic landscapes. For this, we focused on Armadillidium vulgare, a terrestrial isopod model in which evolutionary pressures imposed by terrestrial life have led to the development of internal fertilisation and, consequently, to associated physiological changes...
September 20, 2017: Genetica
https://www.readbyqxmd.com/read/28931078/microgeographic-population-structuring-of-aedes-aegypti-diptera-culicidae
#13
André Barretto Bruno Wilke, Ramon Wilk-da-Silva, Mauro Toledo Marrelli
Aedes aegypti is one of the species most favored by changes in the environment caused by urbanization. Its abundance increases rapidly in the face of such changes, increasing the risk of disease transmission. Previous studies have shown that mosquito species that have adapted to anthropogenic environmental changes benefit from urbanization and undergo population expansion. In light of this, we used microsatellite markers to explore how urbanization processes may be modulating Ae. aegypti populations collected from three areas with different levels of urbanization in the city of São Paulo, Brazil...
2017: PloS One
https://www.readbyqxmd.com/read/28931071/the-origin-of-multiple-clones-in-the-parthenogenetic-lizard-species-darevskia-rostombekowi
#14
Alexey P Ryskov, Fedor A Osipov, Andrey V Omelchenko, Seraphima K Semyenova, Anastasiya E Girnyk, Vitaly I Korchagin, Andrey A Vergun, Robert W Murphy
The all-female Caucasian rock lizard Darevskia rostombekowi and other unisexual species of this genus reproduce normally via true parthenogenesis. Typically, diploid parthenogenetic reptiles exhibit some amount of clonal diversity. However, allozyme data from D. rostombekowi have suggested that this species consists of a single clone. Herein, we test this hypothesis by evaluating variation at three variable microsatellite loci for 42 specimens of D. rostombekowi from four populations in Armenia. Analyses based on single nucleotide polymorphisms of each locus reveal five genotypes or presumptive clones in this species...
2017: PloS One
https://www.readbyqxmd.com/read/28929497/genetic-diversity-and-paternal-origin-of-domestic-donkeys
#15
H Han, N Chen, J Jordana, C Li, T Sun, X Xia, X Zhao, C Ji, S Shen, J Yu, F Ainhoa, H Chen, C Lei, R Dang
Numerous studies have been conducted to investigate genetic diversity, origins and domestication of donkey using autosomal microsatellites and the mitochondrial genome, whereas the male-specific region of the Y chromosome of modern donkeys is largely uncharacterized. In the current study, 14 published equine Y chromosome-specific microsatellites (Y-STR) were investigated in 395 male donkey samples from China, Egypt, Spain and Peru using fluorescent labeled microsatellite markers. The results showed that seven Y-STRs-EcaYP9, EcaYM2, EcaYE2, EcaYE3, EcaYNO1, EcaYNO2 and EcaYNO4-were male specific and polymorphic, showing two to eight alleles in the donkeys studied...
September 19, 2017: Animal Genetics
https://www.readbyqxmd.com/read/28928870/the-impact-of-microsatellite-instability-status-and-sidedness-of-the-primary-tumor-on-the-effect-of-cetuximab-containing-chemotherapy-in-patients-with-metastatic-colorectal-cancer
#16
Seung Tae Kim, Su-Jin Lee, Jeeyun Lee, Se Hoon Park, Joon Oh Park, Ho Yeong Lim, Won Ki Kang, Young Suk Park
Background: Colorectal cancer (CRC) has been reconsidered as a heterogeneous disease. Among advances of genomic analysis in CRC, the sidedness of tumors (left-sided colon vs. right-sided colon) and microsatellite instability (MSI)-high (H) tumors have been highlighted. Methods: We analyzed 153 CRC patients who were available for evaluation of MSI status and had been treated with cetuximab-containing chemotherapy between April 2008 and January 2013. KRAS mutational status was available in all 153 patients, but BRAF mutational status was only available in 72 patients (47...
2017: Journal of Cancer
https://www.readbyqxmd.com/read/28927196/the-intricate-interplay-between-msi-and-polymorphisms-of-dna-repair-enzymes-in-gastric-cancer-h-pylori-associated
#17
Isabelle Joyce de Lima Silva-Fernandes, Emanuele Silva de Oliveira, Juliana Carvalho Santos, Marcelo Lima Ribeiro, Adriana Camargo Ferrasi, Maria Inês de Moura Campos Pardini, Rommel Mário Rodriguez Burbano, Silvia Helena Barem Rabenhorst
Gastric cancer is the fourth most common type of cancer worldwide. Helicobacter pylori is a well-established risk factor and may cause injuries to genomic integrity through an inefficient DNA repair. This study aimed to examine the influence of polymorphisms in DNA repair enzymes using markers for microsatellite instability (MSI). Polymorphisms of DNA repair enzymes were detected by PCR-RFLP and MSI, by high resolution melt (HRM) analysis. Helicobacter pylori detection and genotyping were accomplished by PCR...
July 1, 2017: Mutagenesis
https://www.readbyqxmd.com/read/28927079/new-use-of-microsatellite-instability-analysis-in-endometrial-cancer
#18
Haruko Kunitomi, Kouji Banno, Megumi Yanokura, Takashi Takeda, Moito Iijima, Kanako Nakamura, Miho Iida, Masataka Adachi, Keiko Watanabe, Yusuke Matoba, Yusuke Kobayashi, Eiichiro Tominaga, Daisuke Aoki
The increasing incidence of obesity and diabetes due to changes in diet, earlier menarche, delayed menopause, late marriage, and declining birth rate have resulted in an increase in the number of endometrial cancer cases over the last few decades. Although surgical therapy is sufficient for early endometrial cancer, there is no effective therapy for patients with advanced and recurrent endometrial cancer. The oncogenic mechanism of endometrial cancer involves microsatellite instability (MSI) caused by dysfunction of DNA mismatch repair genes in 30% of patients...
September 2017: Oncology Letters
https://www.readbyqxmd.com/read/28924516/characterization-and-transferability-of-microsatellites-for-the-kangaroo-paw-anigozanthos-manglesii-haemodoraceae
#19
Bronwyn M Ayre, Janet M Anthony, David G Roberts, Richard J N Allcock, Siegfried L Krauss
PREMISE OF THE STUDY: Microsatellites were developed for the future assessment of population genetic structure, mating system, and dispersal of the perennial kangaroo paw, Anigozanthos manglesii (Haemodoraceae), and related species. METHODS AND RESULTS: Using a Personal Genome Machine (PGM) semiconductor sequencer, ca. 4.03 million sequence reads were generated. QDD pipeline software was used to identify 190,000 microsatellite-containing regions and priming sites...
August 2017: Applications in Plant Sciences
https://www.readbyqxmd.com/read/28924515/characterization-of-microsatellite-markers-for-broussonetia-papyrifera-moraceae
#20
Johany Peñailillo, Wenhsi Kuo, Gabriela Olivares, Gerardo Silva-Poblete, Barbara Peña-Ahumada, Sofía Muñoz, Ximena Moncada, Kuo-Fang Chung, Daniela Seelenfreund, Andrea Seelenfreund
PREMISE OF THE STUDY: Broussonetia papyrifera (Moraceae) is native to Asia and is used as a medicinal plant and as a source of fiber for making paper. It was dispersed into the Pacific region as a fiber source for making nonwoven textiles (barkcloth). Microsatellites were developed to trace the human-mediated dispersal of this species into the Pacific region. METHODS AND RESULTS: A set of 36 microsatellites was isolated and initially assayed on 10 accessions to assess polymorphism...
August 2017: Applications in Plant Sciences
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