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Microsatellite instability

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https://www.readbyqxmd.com/read/28927196/the-intricate-interplay-between-msi-and-polymorphisms-of-dna-repair-enzymes-in-gastric-cancer-h-pylori-associated
#1
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
#2
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/28923119/alk-positive-gastric-inflammatory-myofibroblastic-tumor-in-an-adult-with-familial-adenomatous-polyposis-and-diffuse-fundic-polyposis
#3
Jun Fan, Bo Huang, Xiuping Yang, Ming Yang, Jun He, Xiu Nie
BACKGROUND: Inflammatory myofibroblastic tumor (IMT) of the stomach is extremely rare in adults and exhibits a variable biological behavior that ranges from frequently benign lesions to more aggressive variants. Here we report a case of gastric IMT with lymph node metastasis in an adult who had undergone total colectomy for familial adenomatous polyposis (FAP). CASE PRESENTATION: A 37-year-old man presented gradual-onset epigastric discomfort; he had undergone total colectomy for FAP 6 years before...
September 18, 2017: Diagnostic Pathology
https://www.readbyqxmd.com/read/28922790/the-balance-between-cytotoxic-t-cell-lymphocytes-and-immune-checkpoint-expression-in-the-prognosis-of-colon-tumors
#4
Laetitia Marisa, Magali Svrcek, Ada Collura, Etienne Becht, Pascale Cervera, Kristell Wanherdrick, Olivier Buhard, Anastasia Goloudina, Vincent Jonchère, Janick Selves, Gerard Milano, Dominique Guenot, Romain Cohen, Chrystelle Colas, Pierre Laurent-Puig, Sylviane Olschwang, Jérémie H Lefèvre, Yann Parc, Valérie Boige, Côme Lepage, Thierry André, Jean-François Fléjou, Valentin Dérangère, François Ghiringhelli, Aurélien de Reynies, Alex Duval
Background: Immune checkpoint (ICK) expression might represent a surrogate measure of tumor-infiltrating T cell (CTL) exhaustion and therefore be a more accurate prognostic biomarker for colorectal cancer (CRC) patients than CTL enumeration as measured by the Immunoscore. Methods: The expression of ICKs, Th1, CTLs, cytotoxicity-related genes, and metagenes, including Immunoscore-like metagenes, were evaluated in three independent cohorts of CRC samples (260 microsatellite instable [MSI], 971 non-MSI)...
January 1, 2018: Journal of the National Cancer Institute
https://www.readbyqxmd.com/read/28921583/associations-of-alcohol-intake-smoking-physical-activity-and-obesity-with-survival-following-colorectal-cancer-diagnosis-by-stage-anatomic-site-and-tumor-molecular-subtype
#5
Harindra Jayasekara, Dallas R English, Andrew Haydon, Allison M Hodge, Brigid M Lynch, Christophe Rosty, Elizabeth J Williamson, Mark Clendenning, Melissa C Southey, Mark A Jenkins, Robin Room, John L Hopper, Roger L Milne, Daniel D Buchanan, Graham G Giles, Robert J MacInnis
The influence of lifestyle factors on survival following a diagnosis of colorectal cancer (CRC) is not well established. We examined associations between lifestyle factors measured before diagnosis and CRC survival. The Melbourne Collaborative Cohort Study collected data on alcohol intake, cigarette smoking and physical activity, and body measurements at baseline (1990-94) and wave 2 (2003-07). We included participants diagnosed to 31 August 2015 with incident stage I-III CRC within 10-years post exposure assessment...
September 16, 2017: International Journal of Cancer. Journal International du Cancer
https://www.readbyqxmd.com/read/28915720/pseudoprogression-in-microsatellite-instability-high-colorectal-cancer-during-treatment-with-combination-t-cell-mediated-immunotherapy-a-case-report-and-literature-review
#6
Young Kwang Chae, Si Wang, Halla Nimeiri, Aparna Kalyan, Francis J Giles
Evading tumor-mediated immunosuppression through antibodies to immune checkpoints has shown clinical benefit in patients with select solid tumors. There is a heterogeneity of responses in patients receiving immunotherapy, including pseudoprogression in which the tumor burden increases initially before decreasing to reach disease control. The characteristics and basis of pseudoprogression, however, remains poorly understood. We hereby report a case of microsatellite instability (MSI)-high metastatic colorectal cancer treated with combination of OX40 agonist and programmed death ligand-1 (PD-L1) antagonist that demonstrated pseudoprogression reaching 163% increase from baseline tumor burden...
August 22, 2017: Oncotarget
https://www.readbyqxmd.com/read/28903902/single-cell-gene-variation-analysis-method-for-single-gland
#7
Yan Zhou, Chao-Jie Wang, Chun-Chao Zhu, Jiang-Rong Chen, Ming Cheng, Yu-Liang Deng, Yan Guo
Single-cell analysis of heterogeneity has become the cutting-edge technology for profound understandings of relationships between cell populations. At present, common methods used in single cellular genomic research are mainly microfluidic technologies (Fluidigm) or based on microwells, both requiring a uniform size of cells at the entrance. However, the size of cells in specific tissues can vary from type to type. To address this issue, we need to establish a method to identify genomic features of individual cells of different sizes...
August 20, 2017: Yi Chuan, Hereditas
https://www.readbyqxmd.com/read/28895526/molecular-testing-for-lynch-syndrome-in-people-with-colorectal-cancer-systematic-reviews-and-economic-evaluation
#8
Tristan Snowsill, Helen Coelho, Nicola Huxley, Tracey Jones-Hughes, Simon Briscoe, Ian M Frayling, Chris Hyde
BACKGROUND: Inherited mutations in deoxyribonucleic acid (DNA) mismatch repair (MMR) genes lead to an increased risk of colorectal cancer (CRC), gynaecological cancers and other cancers, known as Lynch syndrome (LS). Risk-reducing interventions can be offered to individuals with known LS-causing mutations. The mutations can be identified by comprehensive testing of the MMR genes, but this would be prohibitively expensive in the general population. Tumour-based tests - microsatellite instability (MSI) and MMR immunohistochemistry (IHC) - are used in CRC patients to identify individuals at high risk of LS for genetic testing...
September 2017: Health Technology Assessment: HTA
https://www.readbyqxmd.com/read/28892075/analysis-of-somatic-microsatellite-indels-identifies-driver-events-in-human-tumors
#9
Yosef E Maruvka, Kent W Mouw, Rosa Karlic, Prasanna Parasuraman, Atanas Kamburov, Paz Polak, Nicholas J Haradhvala, Julian M Hess, Esther Rheinbay, Yehuda Brody, Amnon Koren, Lior Z Braunstein, Alan D'Andrea, Michael S Lawrence, Adam Bass, Andre Bernards, Franziska Michor, Gad Getz
Microsatellites (MSs) are tracts of variable-length repeats of short DNA motifs that exhibit high rates of mutation in the form of insertions or deletions (indels) of the repeated motif. Despite their prevalence, the contribution of somatic MS indels to cancer has been largely unexplored, owing to difficulties in detecting them in short-read sequencing data. Here we present two tools: MSMuTect, for accurate detection of somatic MS indels, and MSMutSig, for identification of genes containing MS indels at a higher frequency than expected by chance...
September 11, 2017: Nature Biotechnology
https://www.readbyqxmd.com/read/28891127/helicobacter-pylori-gastric-cancer-and-other-gastrointestinal-malignancies
#10
REVIEW
Marino Venerito, Riccardo Vasapolli, Theodore Rokkas, Jean-Charles Delchier, Peter Malfertheiner
In a retrospective study performed in California, U.S.A., ca. 3% of patients with gastric intestinal metaplasia (GIM) developed gastric cancer (GC) within a median time period of 4.6 years after diagnosis of GIM. This observation stresses the importance of targeted surveillance even in regions with a low GC prevalence. Patients with alcoholic liver disease as well as survivors of colorectal and lobular breast cancer were found to be at increased risk of secondary GC. A population-based Chinese study confirmed "serologic biopsy" as a useful screening tool for stratifying the individual risk of developing GC...
September 2017: Helicobacter
https://www.readbyqxmd.com/read/28890826/mutational-burden-on-circulating-cell-free-tumor-dna-testing-as-a-surrogate-marker-of-mismatch-repair-deficiency-or-microsatellite-instability-in-patients-with-colorectal-cancers
#11
Pashtoon Murtaza Kasi
No abstract text is available yet for this article.
August 2017: Journal of Gastrointestinal Oncology
https://www.readbyqxmd.com/read/28890729/clinical-application-of-a-cancer-genomic-profiling-assay-to-guide-precision-medicine-decisions
#12
Cheryl Eifert, Angeliki Pantazi, Ruobai Sun, Jia Xu, Pablo Cingolani, Joerg Heyer, Meaghan Russell, Maria Lvova, Jennifer Ring, Julie Y Tse, Stephen Lyle, Alexei Protopopov
AIM: Develop and apply a comprehensive and accurate next-generation sequencing based assay to help clinicians to match oncology patients to therapies. MATERIALS & METHODS: The performance of the CANCERPLEX(®) assay was assessed using DNA from well-characterized routine clinical formalin-fixed paraffin-embedded (FFPE) specimens and cell lines. RESULTS: The maximum sensitivity of the assay is 99.5% and its accuracy is virtually 100% for detecting somatic alterations with an allele fraction of as low as 10%...
July 2017: Personalized Medicine
https://www.readbyqxmd.com/read/28877480/a-defective-mrna-cleavage-and-polyadenylation-complex-facilitates-expansions-of-transcribed-gaa-n-repeats-associated-with-friedreich-s-ataxia
#13
Ryan J McGinty, Franco Puleo, Anna Y Aksenova, Julia A Hisey, Alexander A Shishkin, Erika L Pearson, Eric T Wang, David E Housman, Claire Moore, Sergei M Mirkin
Expansions of microsatellite repeats are responsible for numerous hereditary diseases in humans, including myotonic dystrophy and Friedreich's ataxia. Whereas the length of an expandable repeat is the main factor determining disease inheritance, recent data point to genomic trans modifiers that can impact the likelihood of expansions and disease progression. Detection of these modifiers may lead to understanding and treating repeat expansion diseases. Here, we describe a method for the rapid, genome-wide identification of trans modifiers for repeat expansion in a yeast experimental system...
September 5, 2017: Cell Reports
https://www.readbyqxmd.com/read/28877075/microsatellite-instability-a-predictive-biomarker-for-cancer-immunotherapy
#14
Liisa Chang, Minna Chang, Hanna M Chang, Fuju Chang
Immunotherapy has shown promising results in various types of cancers. Checkpoint inhibitor drugs developed for cancer immunotherapy have been approved by the US Food and Drug Administration (FDA) for patients with advanced melanoma, non-small cell lung cancer, renal cell carcinoma, bladder cancers, and refractory Hodgkin lymphoma. In the latest announcement, the FDA has granted accelerated approval to pembrolizumab for pediatric and adult patients with microsatellite instability-high (MSI-H) or mismatch repair-deficient solid tumors...
September 4, 2017: Applied Immunohistochemistry & Molecular Morphology: AIMM
https://www.readbyqxmd.com/read/28877066/clinicopathologic-and-molecular-characteristics-of-synchronous-colorectal-carcinoma-with-mismatch-repair-deficiency
#15
Kayoko Nakano, Hidetaka Yamamoto, Minako Fujiwara, Yutaka Koga, Shinichi Tsuruta, Eikichi Ihara, Eiji Oki, Masafumi Nakamura, Yoshihiro Ogawa, Yoshinao Oda
Synchronous colorectal carcinoma (CRC) is a unique disease associated with a high prevalence (∼35%) of microsatellite instability and occasionally with Lynch syndrome. The clinicopathologic and molecular features of synchronous CRC are poorly understood, particularly in Japanese patients. We examined 118 Japanese patients (236 tumors) with synchronous CRC and 117 Japanese patients (117 tumors) with solitary CRC with immunohistochemical staining for TP53 and mismatch repair (MMR) protein (MLH1, MSH2, PMS2, and MSH6) and mutation analyses of KRAS and BRAF genes...
September 4, 2017: American Journal of Surgical Pathology
https://www.readbyqxmd.com/read/28874631/the-prognostic-role-of-microsatellite-instability-in-colorectal-cancer-patients
#16
Bogdan V Micu, Octavian Andercou, Stefan C Vesa, Carmen M Micu, Tudor R Pop, Nicolae Constantea
BACKGROUND: Data from the literature regarding the prognostic role of DNA mismatch repair system (MMR) in colorectal cancer are still controversial. AIM: The aim of the study was to identify the prognostic role of different phenotypic, clinical and pathological characteristics in microsatellite unstable vs. microsatellite stable colorectal cancer in terms of survival and disease free interval. METHODS: We conducted a retrospective study that included a total of 103 patients who underwent curative surgery for colorectal cancer...
July 28, 2017: Annali Italiani di Chirurgia
https://www.readbyqxmd.com/read/28874130/a-survey-of-the-clinicopathological-and-molecular-characteristics-of-patients-with-suspected-lynch-syndrome-in-latin-america
#17
Benedito Mauro Rossi, Edenir Inêz Palmero, Francisco López-Kostner, Carlos Sarroca, Carlos Alberto Vaccaro, Florencia Spirandelli, Patricia Ashton-Prolla, Yenni Rodriguez, Henrique de Campos Reis Galvão, Rui Manuel Reis, André Escremim de Paula, Luis Gustavo Capochin Romagnolo, Karin Alvarez, Adriana Della Valle, Florencia Neffa, Pablo German Kalfayan, Enrique Spirandelli, Sergio Chialina, Melva Gutiérrez Angulo, Maria Del Carmen Castro-Mujica, Julio Sanchez de Monte, Richard Quispe, Sabrina Daniela da Silva, Norma Teresa Rossi, Claudia Barletta-Carrillo, Susana Revollo, Ximena Taborga, L Lena Morillas, Hélène Tubeuf, Erika Maria Monteiro-Santos, Tamara Alejandra Piñero, Constantino Dominguez-Barrera, Patrik Wernhoff, Alexandra Martins, Eivind Hovig, Pål Møller, Mev Dominguez-Valentin
BACKGROUND: Genetic counselling and testing for Lynch syndrome (LS) have recently been introduced in several Latin America countries. We aimed to characterize the clinical, molecular and mismatch repair (MMR) variants spectrum of patients with suspected LS in Latin America. METHODS: Eleven LS hereditary cancer registries and 34 published LS databases were used to identify unrelated families that fulfilled the Amsterdam II (AMSII) criteria and/or the Bethesda guidelines or suggestive of a dominant colorectal (CRC) inheritance syndrome...
September 5, 2017: BMC Cancer
https://www.readbyqxmd.com/read/28871000/low-levels-of-microsatellite-instability-at-simple-repeated-sequences-commonly-occur-in-human-hepatocellular-carcinoma
#18
Claire Goumard, Christele Desbois-Mouthon, Dominique Wendum, Claire Calmel, Fatiha Merabtene, Olivier Scatton, Françoise Praz
BACKGROUND/AIM: The aim of this study was to assess the inÔidence of MSI in a large series of human hepatocellular carcinomas (HCC) with various etiologies. MATERIALS AND METHODS: The MSI status was determined by polymerase chain reaction (PCR) using 5 mononucleotide and 13 CAn dinucleotide repeats. RESULTS: None of the 122 HCC samples displayed an MSI-High phenotype, as defined by the presence of alterations at more than 30% of the microsatellite markers analyzed...
September 2017: Cancer Genomics & Proteomics
https://www.readbyqxmd.com/read/28860410/next-generation-sequencing-for-patients-with-sarcoma-a-single-center-experience
#19
Gregory M Cote, Jie He, Edwin Choy
BACKGROUND: Sarcomas comprise over 50 subtypes of mesenchymal cancers. For the majority of sarcomas, the driver mutations remain unknown. In this article, we describe our experience with a targeted next-generation sequencing (NGS) platform in clinic patients. MATERIALS AND METHODS: We retrospectively analyzed results of NGS using 133 tumor samples from patients diagnosed with a variety of sarcomas that were analyzed with targeted NGS covering over 400 cancer-related genes (405 DNA, 265 RNA) on a commercially available platform...
August 31, 2017: Oncologist
https://www.readbyqxmd.com/read/28856682/tumor-expression-of-calcium-sensing-receptor-casr-and-colorectal-cancer-survival-results-from-the-nurses-health-study-and-health-professionals-follow-up-study
#20
Fatemeh Momen-Heravi, Yohei Masugi, Zhi Rong Qian, Reiko Nishihara, Li Liu, Stephanie Smith-Warner, NaNa Keum, Lanjing Zhang, Nairi Tchrakian, Jonathan A Nowak, Wanshui Yang, Yanan Ma, Michaela Bowden, Annacarolina da Silva, Molin Wang, Charles S Fuchs, Jeffrey A Meyerhardt, Kimmie Ng, Kana Wu, Edward Giovannucci, Shuji Ogino, Xuehong Zhang
Although experimental evidence suggests calcium-sensing receptor (CASR) as a tumor-suppressor, the prognostic role of tumor CASR expression in colorectal carcinoma remains unclear. We hypothesized that higher tumor CASR expression might be associated with improved survival among colorectal cancer patients. We evaluated tumor expression levels of CASR by immunohistochemistry in 809 incident colorectal cancer patients within the Nurses' Health Study and the Health Professionals Follow-up Study. We used Cox proportional hazards regression models to estimate multivariable hazard ratio (HR) for the association of tumor CASR expression with colorectal cancer-specific and all-cause mortality...
August 30, 2017: International Journal of Cancer. Journal International du Cancer
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