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https://www.readbyqxmd.com/read/27910071/pi3k-pten-akt-genetic-mouse-models-of-endometrial-carcinoma
#1
Ayesha Joshi, Lora Hedrick Ellenson
The PI3K/PTEN/AKT pathway is the most frequently mutated pathway in endometrial carcinoma. Mouse models are invaluable tools to understand, at the molecular level, the contributions of components of this pathway towards initiation and progression of endometrial carcinoma. This chapter summarizes results of germline and tissue specific knockout mouse models generated to understand how mutations in components of this pathway lead to development of carcinoma and its interactions with other frequently altered pathways like mismatch repair and estrogen signaling...
2017: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/27907910/a-mononucleotide-repeat-in-prrt2-is-an-important-frequent-target-of-mismatch-repair-deficiency-in-cancer
#2
Inês Teles Alves, David Cano, René Böttcher, Hetty van der Korput, Winand Dinjens, Guido Jenster, Jan Trapman
The DNA mismatch repair (MMR) system corrects DNA replication mismatches thereby contributing to the maintenance of genomic stability. MMR deficiency has been observed in prostate cancer but its impact on the genomic landscape of these tumours is not known. In order to identify MMR associated mutations in prostate cancer we have performed whole genome sequencing of the MMR deficient PC346C prostate cancer cell line. We detected a total of 1196 mutations in PC346C which was 1.5-fold higher compared to a MMR proficient prostate cancer sample (G089)...
November 19, 2016: Oncotarget
https://www.readbyqxmd.com/read/27903930/metachronous-uterine-endometrioid-adenocarcinoma-and-peritoneal-mesothelioma-in-lynch-syndrome-a-case-report
#3
Yuxin Lu, Sara Milchgrub, Gaurav Khatri, Purva Gopal
Lynch syndrome is a hereditary disease with germline mutation in a DNA mismatch repair gene, most often presenting with colorectal and/or endometrial carcinomas; however, the spectrum of Lynch syndrome-associated tumors is expanding. In this article, we report a case of a primary peritoneal epithelioid mesothelioma that developed in a Lynch syndrome patient 10 months after diagnosis of uterine endometrioid adenocarcinoma. To our knowledge, this is the first reported case of a Lynch syndrome patient with metachronous uterine endometrioid adenocarcinoma and primary peritoneal mesothelioma...
November 30, 2016: International Journal of Surgical Pathology
https://www.readbyqxmd.com/read/27903905/human-mlh1-suppresses-the-insertion-of-telomeric-sequences-at-intra-chromosomal-sites-in-telomerase-expressing-cells
#4
Pingping Jia, Megan Chastain, Ying Zou, Chengtao Her, Weihang Chai
Aberrant formation of interstitial telomeric sequences (ITSs) promotes genome instabilities. However, it is unclear how aberrant ITS formation is suppressed in human cells. Here, we report that MLH1, a key protein involved in mismatch repair (MMR), suppresses telomeric sequence insertion (TSI) at intra-chromosomal regions. The frequency of TSI can be elevated by double-strand break (DSB) inducer and abolished by ATM/ATR inhibition. Suppression of TSI requires MLH1 recruitment to DSBs, indicating that MLH1's role in DSB response/repair is important for suppressing TSI...
November 29, 2016: Nucleic Acids Research
https://www.readbyqxmd.com/read/27903500/primary-resistance-to-pd-1-blockade-mediated-by-jak%C3%A2-mutations
#5
Daniel Sanghoon Shin, Jesse M Zaretsky, Helena Escuin-Ordinas, Angel Garcia-Diaz, Siwen Hu-Lieskovan, Anusha Kalbasi, Catherine S Grasso, Willy Hugo, Salemiz Sandoval, Davis Y Torrejon, Nicolaos Palaskas, Gabriel Abril Rodriguez, Giulia Parisi, Ariel Azhdam, Bartosz Chmielowski, Grace Cherry, Elizabeth Seja, Beata Berent-Maoz, I Peter Shintaku, Dung Thi Le, Drew M Pardoll, Luis A Diaz, Paul C Tumeh, Thomas G Graeber, Roger S Lo, Begoña Comin-Anduix, Antoni Ribas
Loss of function mutations in JAK½ can lead to acquired resistance to anti-programmed death protein 1 (PD-1) therapy. We reasoned they may also be involved in primary resistance to anti-PD-1 therapy. JAK½ inactivating mutations were noted in tumor biopsies of 1 of 23 patients with melanoma and in 1 of 16 patients with mismatch repair deficient colon cancer treated with PD-1 blockade. Both cases had a high mutational load but did not respond to anti-PD-1 therapy. Two out of 48 human melanoma cell lines had JAK½ mutations, which led to lack of PD-L1 expression upon interferon gamma exposure mediated by inability to signal through the interferon gamma receptor pathway...
November 30, 2016: Cancer Discovery
https://www.readbyqxmd.com/read/27903453/repair-of-8-oxo-7-8-dihydroguanine-in-prokaryotic-and-eukaryotic-cells-properties-and-biological-roles-of-the-fpg-and-ogg1-dna-n-glycosylases
#6
Serge Boiteux, Franck Coste, Bertrand Castaing
Oxidatively damaged DNA results from the attack of sugar and base moieties by reactive oxygen species (ROS), which are formed as byproducts of normal cell metabolism and during exposure to endogenous or exogenous chemical or physical agents. Guanine, having the lowest redox potential, is the DNA base the most susceptible to oxidation, yielding products such as 8-oxo-7,8-dihydroguanine (8-oxoG) and 2-6-diamino-4-hydroxy-5-formamidopyrimidine (FapyG). In DNA, 8-oxoG was shown to be mutagenic yielding GC to TA transversions upon incorporation of dAMP opposite this lesion by replicative DNA polymerases...
November 26, 2016: Free Radical Biology & Medicine
https://www.readbyqxmd.com/read/27896849/cytoplasmic-msh2-immunoreactivity-in-a-patient-with-lynch-syndrome-with-an-epcam-msh2-fusion
#7
Shigeki Sekine, Reiko Ogawa, Shinya Saito, Mineko Ushiama, Dai Shida, Takeshi Nakajima, Hirokazu Taniguchi, Nobuyoshi Hiraoka, Teruhiko Yoshida, Kokichi Sugano
AIMS: Immunohistochemistry for mismatch repair (MMR) proteins is being increasingly used to examine MMR status in tumours. The aim of the present article was to report the case of a colon cancer patient with Lynch syndrome who showed unusual cytoplasmic MMR protein localization. METHODS AND RESULTS: Histologically, the colon cancer was diagnosed as medullary carcinoma associated with prominent tumour-infiltrating lymphocytes and a Crohn's-like reaction. Immunohistochemistry revealed cytoplasmic and nuclear expression of MSH2 in non-neoplastic cells, and exclusively cytoplasmic expression in tumour cells...
October 19, 2016: Histopathology
https://www.readbyqxmd.com/read/27896456/dna-copy-number-profiling-in-microsatellite-stable-and-microsatellite-unstable-hereditary-non-polyposis-colorectal-cancers-by-targeted-cnv-array
#8
Weixiang Chen, Jun Ding, Long Jiang, Zebing Liu, Xiaoyan Zhou, Daren Shi
About half of hereditary non-polyposis colorectal cancers (HNPCCs) fulfilling the Amsterdam criteria (AC) do not display evidence of mismatch repair defects, and the difference between microsatellite-stable (MSS) and microsatellite-unstable HNPCC remains poorly understood. The study was to compare overall copy number variation (CNV) and loss of heterozygosity (LOH) of the entire genome in HNPCCs with MSS and microsatellite-instability (MSI) using the Cytoscan HD Array. This was a study carried out in samples from 20 patients with MSS HNPCC and four patients with MSI HNPCC from the Fudan University Shanghai Cancer Center (China)...
November 28, 2016: Functional & Integrative Genomics
https://www.readbyqxmd.com/read/27895927/expansion-mosaicism-and-interruption-mechanisms-of-the-cag-repeat-mutation-in-spinocerebellar-ataxia-type-1
#9
REVIEW
Cara Kraus-Perrotta, Sarita Lagalwar
Spinocerebellar ataxia type 1 (SCA1) is an autosomal dominant neurodegenerative disorder that primarily affects the cerebellum and brainstem. The genetic mutation is an expansion of CAG trinucleotide repeats within the coding region of the ataxin-1 gene, characterizing SCA1 as a polyglutamine expansion disease like Huntington's. As with most polyglutamine expansion diseases, SCA1 follows the rules of genetic anticipation: the larger the expansion, the earlier and more rapid the symptoms. Unlike the majority of polyglutamine expansion diseases, the presence of histidine interruptions within the polyglutamine tract of ataxin-1 protein can prevent or mitigate disease...
2016: Cerebellum & Ataxias
https://www.readbyqxmd.com/read/27895767/a-promoter-polymorphism-in-the-hmlh1-gene-93g-a-associated-with-sporadic-colorectal-cancer
#10
Li-Li Zhang, Xue-Jun Tang, Xiao-Yun Wang, Ying-Wei Zhu, Xiao-Bin Peng, Lei Gong
Colorectal cancer (CRC) is a worldwide problem for public health. mutL homolog 1 (MLH1) is a key component of the mismatch repair system, and the MLH1-93G/A polymorphism (rs1800734) is predicted to affect MLH1 protein expression, suggesting that the polymorphism may be associated with the cancer risk; however, the results concerning this have been inconsistent. In order to investigate the possible correlation between human (h)MLH1-93G/A polymorphism and the development and progression of sporadic CRC (SCRC) in China, the genotypes of hMLH1-93G/A were detected by the TaqMan MGB probe method in 312 SCRC patients and 300 healthy controls, and immunohistochemical staining was also performed to measure the expression of hMLH1 in cases with different alleles among the SCRC patients and normal controls...
November 2016: Oncology Letters
https://www.readbyqxmd.com/read/27894089/associations-between-single-nucleotide-polymorphisms-of-human-exonuclease-1-and-the-risk-of-hepatocellular-carcinoma
#11
Shengkui Tan, Ruoyun Qin, Xiaonian Zhu, Chao Tan, Jiale Song, Linyuan Qin, Liu Liu, Xiong Huang, Anhua Li, Xiaoqiang Qiu
Human exonuclease 1 (hEXO1) is an important nuclease involved in mismatch repair system that contributes to maintain genomic stability and modulate DNA recombination. This study is aimed to explore the associations between single-nucleotide polymorphisms (SNPs) of hEXO1 and the hereditary susceptibility of hepatocellular carcinoma (HCC). SNPs rs1047840, rs1776148, rs3754093, rs4149867, rs4149963, and rs1776181 of hEXO1 were examined from a hospital-based case-control study including 1,196 cases (HCC patients) and 1,199 controls (non-HCC patients) in Guangxi, China...
November 23, 2016: Oncotarget
https://www.readbyqxmd.com/read/27890638/aberrant-base-excision-repair-pathway-of-oxidatively-damaged-dna-implications-for-degenerative-diseases
#12
Ibtissam Talhaoui, Bakhyt T Matkarimov, Thierry Tchenio, Dmitry O Zharkov, Murat K Saparbaev
In cellular organisms composition of DNA is constrained to only four nucleobases A, G, T and C, except for minor DNA base modifications such as methylation which serves for defence against foreign DNA or gene expression regulation. Interestingly, this severe evolutionary constraint among other things demands DNA repair systems to discriminate between regular and modified bases. DNA glycosylases specifically recognize and excise damaged bases among vast majority of regular bases in the base excision repair (BER) pathway...
November 24, 2016: Free Radical Biology & Medicine
https://www.readbyqxmd.com/read/27886675/pathogenic-germline-mcm9-variants-are-rare-in-australian-lynch-like-syndrome-patients
#13
Qing Liu, Luke B Hesson, Andrea C Nunez, Deborah Packham, Nicholas J Hawkins, Robyn L Ward, Mathew A Sloane
Lynch syndrome is a hereditary cancer syndrome caused by the autosomal dominant inheritance of loss-of-function mutations in DNA mismatch repair (MMR) genes. Approximately one quarter of clinically suspected cases have no identifiable germline mutation in any MMR gene, a condition known as Lynch-like syndrome (LLS). MCM9 was recently identified as the DNA helicase in the mammalian MMR complex and loss of helicase activity results in microsatellite instability. We hypothesized that pathogenic variants in MCM9 may account for LLS...
November 2016: Cancer Genetics
https://www.readbyqxmd.com/read/27886214/epigenetic-enhancement-of-the-post-replicative-dna-mismatch-repair-of-mammalian-genomes-by-a-hemi-m-cpg-np95-dnmt1-axis
#14
Keh-Yang Wang, Chun-Chang Chen, Shih-Feng Tsai, Che-Kun James Shen
DNA methylation at C of CpG dyads ((m)CpG) in vertebrate genomes is essential for gene regulation, genome stability and development. We show in this study that proper functioning of post-replicative DNA mismatch repair (MMR) in mammalian cells relies on the presence of genomic (m)CpG, as well as on the maintenance DNA methyltransferase Dnmt1 independently of its catalytic activity. More importantly, high efficiency of mammalian MMR surveillance is achieved through a hemi-(m)CpG-Np95(Uhrf1)-Dnmt1 axis, in which the MMR surveillance complex(es) is recruited to post-replicative DNA by Dnmt1, requiring its interactions with MutSα, as well as with Np95 bound at the hemi-methylated CpG sites...
November 25, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27881709/relationship-between-metformin-use-and-recurrence-and-survival-in-patients-with-resected-stage-iii-colon-cancer-receiving-adjuvant-chemotherapy-results-from-north-central-cancer-treatment-group-n0147-alliance
#15
Preet Paul Singh, Qian Shi, Nathan R Foster, Axel Grothey, Suresh G Nair, Emily Chan, Anthony F Shields, Richard M Goldberg, Sharlene Gill, Morton S Kahlenberg, Frank A Sinicrope, Daniel J Sargent, Steven R Alberts
BACKGROUND: Preclinical and epidemiological data suggest that metformin might have antineoplastic properties against colon cancer (CC). However, the effect of metformin use on patient survival in stage III CC after curative resection is unknown. The survival outcomes were comparable regardless of the duration of metformin use. PATIENTS AND METHODS: Before randomization to FOLFOX (folinic acid, 5-fluorouracil, oxaliplatin) with or without cetuximab, 1,958 patients with stage III CC enrolled in the N0147 study completed a questionnaire with information on diabetes mellitus (DM) and metformin use...
November 23, 2016: Oncologist
https://www.readbyqxmd.com/read/27873144/truncation-of-the-msh2-c-terminal-60-amino-acids-disrupts-effective-dna-mismatch-repair-and-is-causative-for-lynch-syndrome
#16
Eva Wielders, Elly Delzenne-Goette, Rob Dekker, Martin van der Valk, Hein Te Riele
Missense variants of DNA mismatch repair (MMR) genes pose a problem in clinical genetics as long as they cannot unambiguously be assigned as the cause of Lynch syndrome (LS). To study such variants of uncertain clinical significance, we have developed a functional assay based on direct measurement of MMR activity in mouse embryonic stem cells expressing mutant protein from the endogenous alleles. We have applied this protocol to a specific truncation mutant of MSH2 that removes 60 C-terminal amino acids and has been found in suspected LS families...
November 21, 2016: Familial Cancer
https://www.readbyqxmd.com/read/27872185/the-major-replicative-histone-chaperone-caf-1-suppresses-the-activity-of-the-dna-mismatch-repair-system-in-the-cytotoxic-response-to-a-dna-methylating-agent
#17
Lyudmila Y Kadyrova, Basanta K Dahal, Farid A Kadyrov
The DNA mismatch repair (MMR) system corrects DNA mismatches in the genome. It is also required for the cytotoxic response of O(6)-methylguanine-DNA methyltransferase (MGMT)-deficient mammalian cells and yeast mgt1Δ rad52Δ cells to treatment with Sn1-type methylating agents, which produce cytotoxic O(6)-methylguanine (O(6)-mG) DNA lesions. Specifically, processing of irreparable O(6)-mG-containing mispairs by the MMR system causes DNA degradation, triggering cell death; this process forms the basis of treatments of MGMT-deficient cancers with Sn1-type methylating drugs...
November 21, 2016: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/27868267/reduced-microrna-188-3p-expression-contributes-to-apoptosis-of-spermatogenic-cells-in-patients-with-azoospermia
#18
Wen-Yan Song, Hui Meng, Xue-Gai Wang, Hai-Xia Jin, Gui-Dong Yao, Sen-Lin Shi, Liang Wu, Xiang-Yang Zhang, Ying-Pu Sun
BACKGROUND AND AIMS: Human mutL homologl (MLH1) works coordinately in sequential steps to initiate repair of DNA mismatches, and aberrant MLH1 expression is related to spermatogenetic malfunction. In the present study, MLH1 expression in patients with azoospermia was investigated, and moderating effects of miR-188-3p on MLH1 expression and spermatogenesis were identified. METHODS: Testicular tissues from 16 patients with obstructive azoospermia (OA) and non-obstructive azoospermia (NOA), and tissues of eight healthy patients were collected...
November 21, 2016: Cell Proliferation
https://www.readbyqxmd.com/read/27864690/infrequent-mismatch-repair-protein-loss-in-gallbladder-cancer-patients-in-japan
#19
Hiroshi Yoshida, Kazuaki Shimada, Nobuyoshi Hiraoka
No abstract text is available yet for this article.
November 18, 2016: Virchows Archiv: An International Journal of Pathology
https://www.readbyqxmd.com/read/27864117/microcystic-elongated-and-fragmented-melf-pattern-invasion-is-mainly-associated-with-isolated-tumor-cell-pattern-metastases-in-figo-grade-i-endometrioid-endometrial-cancer-eec
#20
Mathieu P Pelletier, Vincent Q Trinh, Philippe Stephenson, Anne-Marie Mes-Masson, Vanessa Samouelian, Diane M Provencher, Kurosh Rahimi
While many studies have evaluated the impact of mismatch repair protein loss of expression (MMR LOE) or microcystic, elongated and fragmented (MELF) pattern of myometrial invasion as individual factors in endometrial cancer, we analyzed the combined impact of both. We reviewed every case of FIGO grade 1 endometrioid endometrial cancers (EEC) from our institution, between 2011 and 2015, that had a sentinel lymph node biopsy and/or a lymphadenectomy, and examined the following data: age, myometrial infiltration, MELF infiltration, lymphovascular space invasion and lymph node status...
November 15, 2016: Human Pathology
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