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https://www.readbyqxmd.com/read/28333944/mechanisms-of-glycosylase-induced-genomic-instability
#1
Daniel E Eyler, Kylie A Burnham, Thomas E Wilson, Patrick J O'Brien
Human alkyladenine DNA glycosylase (AAG) initiates base excision repair (BER) to guard against mutations by excising alkylated and deaminated purines. Counterintuitively, increased expression of AAG has been implicated in increased rates of spontaneous mutation in microsatellite repeats. This microsatellite mutator phenotype is consistent with a model in which AAG excises bulged (unpaired) bases, altering repeat length. To directly test the role of base excision in AAG-induced mutagenesis, we conducted mutation accumulation experiments in yeast overexpressing different variants of AAG and detected mutations via high-depth genome resequencing...
2017: PloS One
https://www.readbyqxmd.com/read/28327367/biallelic-mismatch-repair-deficiency-syndrome-management-and-prevention-of-a-devastating-manifestation-of-lynch-syndrome
#2
EDITORIAL
Huma Q Rana, Sapna Syngal
No abstract text is available yet for this article.
March 18, 2017: Gastroenterology
https://www.readbyqxmd.com/read/28325361/warthin-like-papillary-renal-cell-carcinoma-clinicopathologic-morphologic-immunohistochemical-and-molecular-genetic-analysis-of-11-cases
#3
Faruk Skenderi, Monika Ulamec, Tomas Vanecek, Petr Martinek, Reza Alaghehbandan, Maria Pane Foix, Iva Babankova, Delia Perez Montiel, Isabel Alvarado-Cabrero, Marian Svajdler, Pavol Dubinský, Dana Cempirkova, Michal Pavlovsky, Semir Vranic, Ondrej Daum, Ondrej Ondic, Kristyna Pivovarcikova, Kvetoslava Michalova, Milan Hora, Pavla Rotterova, Adela Stehlikova, Martin Dusek, Michal Michal, Ondrej Hes
Oncocytic papillary renal cell carcinoma (PRCC) is a distinct subtype of PRCC, listed as a possible new variant of PRCC in the 2016 WHO classification. It is composed of papillae aligned by large single-layered eosinophilic cells showing linearly arranged oncocytoma-like nuclei. We analyzed clinicopathologic, morphologic, immunohistochemical and molecular-genetic characteristics of 11 oncocytic PRCCs with prominent tumor lymphocytic infiltrate, morphologically resembling Warthin's tumor. The patients were predominantly males (8/11, 73%), with an average age of 59years (range 14-76), and a mean tumor size of 7cm (range 1-22cm)...
April 2017: Annals of Diagnostic Pathology
https://www.readbyqxmd.com/read/28323777/msh6-past-and-present-and-muir-torre-syndrome-connecting-the-dots
#4
Meera Mahalingam
Sebaceous neoplasms such as adenoma, sebaceoma, and carcinoma, although sporadic in their occurrence, are clinically significant because of their association with Muir-Torre syndrome (MTS). MTS is a rare autosomal dominant genodermatosis characterized by the occurrence of sebaceous neoplasms and/or keratoacanthomas and visceral malignancies. MTS is usually the result of germline mutations in the DNA mismatch repair genes MSH2 and, albeit less commonly, MLH1. Although less know, MSH6 is yet another key player...
April 2017: American Journal of Dermatopathology
https://www.readbyqxmd.com/read/28322182/helicobacter-pylori-as-an-oncogenic-pathogen-revisited
#5
Muhammad Miftahussurur, Yoshio Yamaoka, David Y Graham
Gastric cancer is an inflammation-associated malignancy aetiologically related to infection with the bacterium, Helicobacter pylori, which is considered a necessary but insufficient cause. Unless treated, H. pylori causes life-long acute and chronic gastric inflammation resulting in progressive gastric mucosal damage that may result in gastric cancer. The rate of progression from superficial gastritis, to an atrophic metaplastic mucosa, and ultimately to cancer relates to the virulence of the infecting H. pylori as well as host and environmental factors...
March 21, 2017: Expert Reviews in Molecular Medicine
https://www.readbyqxmd.com/read/28319570/microcystic-elongated-and-fragmented-pattern-invasion-in-ovarian-endometrioid-carcinoma-immunohistochemical-profile-and-prognostic-implications
#6
Allison Goldberg, Lauren Hand, Dan DeCotiis, Norman Rosenblum, Joanna Chan
Microcystic, elongated, and fragmented (MELF) pattern invasion is a poor prognostic indicator in uterine endometrioid carcinoma, but its existence, biology, and prognostic value have not been described in ovarian endometrioid carcinoma. We evaluated cases of ovarian endometrioid carcinoma without synchronous uterine endometrioid carcinoma for MELF and other histologic features. To evaluate tumor biology, we assessed an immunohistochemical profile, including MLH1, PMS2, MSH2, MSH6, β-catenin, e-cadherin, CK19, and cyclin D1...
March 17, 2017: International Journal of Gynecological Pathology
https://www.readbyqxmd.com/read/28318075/thymine-dna-glycosylase-modulates-dna-damage-response-and-gene-expression-by-base-excision-repair-dependent-and-independent-mechanisms
#7
Tomohumi Nakamura, Kouichi Murakami, Haruto Tada, Yoshihiko Uehara, Jumpei Nogami, Kazumitsu Maehara, Yasuyuki Ohkawa, Hisato Saitoh, Hideo Nishitani, Tetsuya Ono, Ryotaro Nishi, Masayuki Yokoi, Wataru Sakai, Kaoru Sugasawa
Thymine DNA glycosylase (TDG) is a base excision repair (BER) enzyme, which is implicated in correction of deamination-induced DNA mismatches, the DNA demethylation process and regulation of gene expression. Because of these pivotal roles associated, it is crucial to elucidate how the TDG functions are appropriately regulated in vivo. Here, we present evidence that the TDG protein undergoes degradation upon various types of DNA damage, including ultraviolet light (UV). The UV-induced degradation of TDG was dependent on proficiency in nucleotide excision repair and on CRL4(CDT)(2) -mediated ubiquitination that requires a physical interaction between TDG and DNA polymerase clamp PCNA...
March 20, 2017: Genes to Cells: Devoted to Molecular & Cellular Mechanisms
https://www.readbyqxmd.com/read/28315832/modulating-crossover-frequency-and-interference-for-obligate-crossovers-in-saccharomyces-cerevisiae-meiosis
#8
Parijat Chakraborty, Ajith V Pankajam, Gen Lin, Abhishek Dutta, Krishnaprasad G Nandanan, Manu M Tekkedil, Akira Shinohara, Lars M Steinmetz, Nishant K Thazath
Meiotic crossover frequencies show wide variation among organisms. But most organisms maintain at least one crossover per homolog pair (obligate crossover). In Saccharomyces cerevisiae, previous studies have shown crossover frequencies are reduced in the mismatch repair related mutant mlh3Δ and enhanced in a meiotic checkpoint mutant pch2Δ by up to two-fold at specific chromosomal loci, but both mutants maintain high spore viability. We analyzed meiotic recombination events genome-wide in mlh3Δ, pch2Δ and mlh3Δ pch2Δ mutants to test the effect of variation in crossover frequency on obligate crossovers...
March 17, 2017: G3: Genes—Genomes—Genetics
https://www.readbyqxmd.com/read/28314294/mismatch-repair-protein-deficiency-is-a-risk-factor-for-aberrant-expression-of-hla-class-i-molecules-a-putative-adaptive-immune-escape-phenomenon
#9
Terufumi Kubo, Yoshihiko Hirohashi, Kazuhiko Matsuo, Tomoko Sonoda, Hiroki Sakamoto, Kiyoshi Furumura, Tomohide Tsukahara, Takayuki Kanaseki, Munehide Nakatsugawa, Hiroshi Hirano, Tomohisa Furuhata, Ichiro Takemasa, Tadashi Hasegawa, Toshihiko Torigoe
Accumulating evidence indicates that immune checkpoint inhibition-mediated cancer immunotherapies greatly improve the prognosis of certain types of cancer. This approach is now becoming a standard therapy, joining surgery, radiotherapy, and chemotherapy. Because the costs of antibody drugs are now a socioeconomic burden in many countries, an urgent need in cancer immunotherapy is the identification of relevant biomarkers that can predict therapy efficacy. Recent studies have reported that colorectal adenocarcinoma with hereditary or sporadic deficiency in mismatch repair (MMR) proteins has high antigenicity and that detection of these proteins could be a promising way to estimate clinical response...
March 2017: Anticancer Research
https://www.readbyqxmd.com/read/28314254/synchronous-endometrial-and-ovarian-cancer-in-young-women-case-report-and-review-of-the-literature
#10
REVIEW
Askin Dogan, Beate Schultheis, Günther A Rezniczek, Ziad Hilal, Cem Cetin, Günther Häusler, Clemens B Tempfer
BACKGROUND: Young women with endometrial cancer (EC) have an increased risk of synchronous ovarian cancer. The prognosis of women with synchronous endometrial and ovarian cancer (SEOC) is good. A high proportion of affected women have hereditary non-polyposis colon cancer syndrome (HNPCC). CASE PRESENTATION: We present the case of a 45-year-old woman with histologically proven endometrioid adenocarcinoma of the endometrium (pT1B, G2, R0 without lymphovascular space invasion)...
March 2017: Anticancer Research
https://www.readbyqxmd.com/read/28303686/afterload-mismatch-after-transcatheter-mitral-valve-repair-with-mitraclip-for-degenerative-mitral-regurgitation-in-acute-cardiogenic-shock
#11
Gilbert H L Tang, Martin Cohen, Tanya Dutta, Cenap Undemir
Acute afterload mismatch after surgery for mitral regurgitation (MR) with transient left ventricular dysfunction is well known, but not described after transcatheter mitral valve repair with MitraClip, except in functional MR and cardiomyopathy. MitraClip to manage acute severe MR and cardiogenic shock has also been rarely reported. We report here a 77-year-old female who presented with acute severe degenerative MR from a flail posterior leaflet, with cardiogenic shock requiring intra-aortic balloon pump support...
March 17, 2017: Catheterization and Cardiovascular Interventions
https://www.readbyqxmd.com/read/28303490/immune-checkpoint-inhibitors-in-gliomas
#12
REVIEW
Aaron C Tan, Amy B Heimberger, Mustafa Khasraw
PURPOSE OF REVIEW: Malignant gliomas result in disproportionately high morbidity and mortality compared with other primary tumors, and progression of disease is inevitable. Novel therapies to improve outcomes are needed and immune checkpoint inhibitors hold significant promise. RECENT FINDINGS: A limited body of preclinical evidence suggests that checkpoint inhibitors may be effective treatment for gliomas. Biomarkers to identify characteristics of gliomas responsive to these therapies will be essential...
April 2017: Current Oncology Reports
https://www.readbyqxmd.com/read/28300842/cd95-ligand-induces-senescence-in-mismatch-repair-deficient-human-colon-cancer-via-chronic-caspase-mediated-induction-of-dna-damage
#13
Danielle A Raats, Nicola Frenkel, Susanne J van Schelven, Inne HMBorel Rinkes, Jamila Laoukili, Onno Kranenburg
CD95 is best known for its ability to induce apoptosis via a well-characterized pathway involving caspase-mediated proteolytic events. However, in apoptosis-resistant cell lines of diverse cancer types stimulation of CD95 primarily has pro-tumorigenic effects that affect many of the hallmarks of cancer. For instance, in colon cancer cells with a mutant KRAS gene CD95 primarily promotes invasion and metastasis. In the current study, we further investigated the context dependency of the consequences of CD95 activation in colon cancer...
March 16, 2017: Cell Death & Disease
https://www.readbyqxmd.com/read/28300173/exonuclease-processivity-of-archaeal-replicative-dna-polymerase-in-association-with-pcna-is-expedited-by-mismatches-in-dna
#14
Takuya Yoda, Maiko Tanabe, Toshiyuki Tsuji, Takao Yoda, Sonoko Ishino, Tsuyoshi Shirai, Yoshizumi Ishino, Haruko Takeyama, Hirokazu Nishida
Family B DNA polymerases comprise polymerase and 3' ->5' exonuclease domains, and detect a mismatch in a newly synthesized strand to remove it in cooperation with Proliferating cell nuclear antigen (PCNA), which encircles the DNA to provide a molecular platform for efficient protein-protein and protein-DNA interactions during DNA replication and repair. Once the repair is completed, the enzyme must stop the exonucleolytic process and switch to the polymerase mode. However, the cue to stop the degradation is unclear...
March 16, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28297694/immunocytological-analysis-of-meiotic-recombination-in-the-gray-goose-anser-anser
#15
Anna A Torgasheva, Pavel M Borodin
Studies on mammals demonstrate wide interspecific variation in the number and distribution of recombination events along chromosomes. Birds represent an interesting model group for comparative analysis of cytological and ecological drivers of recombination rate evolution. Yet, data on variation in recombination rates in birds are limited to a dozen of species. In this study, we used immunolocalization of MLH1, a mismatch repair protein marking mature recombination nodules, to estimate the overall recombination rate and distribution of crossovers along macrochromosomes in female and male meiosis of the gray goose (Anser anser)...
March 16, 2017: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/28293764/immune-checkpoint-inhibition-and-its-relationship-with-hypermutation-phenoytype-as-a-potential-treatment-for-glioblastoma
#16
REVIEW
Manohan Sinnadurai, Kerrie L McDonald
Glioblastoma (GBM) is the most common malignant brain tumour in adults. Current prognosis with standard treatment is poor. Immunotherapy is a new paradigm in tumour management. Specifically, recent advances in the field of immune checkpoint molecules have led to dramatic results in many cancers. Inhibition of one particular, programmed cell death-1 (PD-1) has recently been shown to be highly effective in melanoma and non-small cell lung cancer. There has also been recent data to suggest potential benefit in GBM...
March 14, 2017: Journal of Neuro-oncology
https://www.readbyqxmd.com/read/28293327/the-dynamic-dna-methylation-landscape-of-the-mutl-homolog-1-shore-is-altered-by-mlh1-93g-a-polymorphism-in-normal-tissues-and-colorectal-cancer
#17
Andrea J Savio, Miralem Mrkonjic, Mathieu Lemire, Steven Gallinger, Julia A Knight, Bharat Bapat
BACKGROUND: Colorectal cancers (CRCs) undergo distinct genetic and epigenetic alterations. Expression of mutL homolog 1 (MLH1), a mismatch repair gene that corrects DNA replication errors, is lost in up to 15% of sporadic tumours due to mutation or, more commonly, due to DNA methylation of its promoter CpG island. A single nucleotide polymorphism (SNP) in the CpG island of MLH1 (MLH1-93G>A or rs1800734) is associated with CpG island hypermethylation and decreased MLH1 expression in CRC tumours...
2017: Clinical Epigenetics
https://www.readbyqxmd.com/read/28293308/mismatch-repair-proteins-and-microsatellite-instability-in-colorectal-carcinoma-mlh1-msh2-msh6-and-pms2-histopathological-and-immunohistochemical-study
#18
Nour El Hoda S Ismael, Samar A El Sheikh, Suzan M Talaat, Eman M Salem
BACKGROUND: Colorectal cancer (CRC) is one of the most common cancers worldwide. Microsatellite instability (MSI) is detected in about 15% of all colorectal cancers. CRC with MSI has particular characteristics such as improved survival rates and better prognosis. They also have a distinct sensitivity to the action of chemotherapy. AIM: The aim of the study was to detect microsatellite instability in a cohort of colorectal cancer Egyptian patients using the immunohistochemical expression of mismatch repair proteins (MLH1, MSH2, MSH6 and PMS2)...
March 15, 2017: Open Access Macedonian Journal of Medical Sciences
https://www.readbyqxmd.com/read/28286799/a-30-year-old-man-with-three-primary-malignancies-a-case-of-constitutional-mismatch-repair-deficiency
#19
William Rengifo-Cam, Kory Jasperson, Ignacio Garrido-Laguna, Howard Colman, Courtney Scaife, Wade Samowitz, N Jewel Samadder
Constitutional mismatch repair deficiency (CMMRD) is a devastating cancer predisposition syndrome for which clinical manifestations, genetic screening, and cancer prevention strategies are limited. We report a case of CMMRD presenting with metachronous colorectal cancer and brain cancer. Oncologists and gastroenterologists should be aware of the CMMRD syndrome as a rare cause of very early-onset colorectal cancer.
2017: ACG Case Reports Journal
https://www.readbyqxmd.com/read/28285866/obstructed-infradiaphragmatic-total-anomalous-pulmonary-venous-return-in-a-13-day-old-infant-presenting-acutely-to-the-emergency-department-a-case-report
#20
Elizabeth A Siacunco, Garrett S Pacheco, Dale P Woolridge
BACKGROUND: Total anomalous pulmonary venous return (TAPVR) is an uncommon congenital heart defect. Obstructed forms are more severe, and typically present earlier in life, usually in the immediate newborn period, with symptoms of severe cyanosis and respiratory failure. CASE REPORT: A 13-day-old boy presented to the emergency department (ED) with respiratory extremis. He appeared cyanotic and limp, and was found to have significant hypoxia with oxygen saturation of 40%...
March 9, 2017: Journal of Emergency Medicine
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