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https://www.readbyqxmd.com/read/28922847/germline-msh6-mutation-in-a-patient-with-two-independent-primary-glioblastomas
#1
Linda M Forsström, Koichiro Sumi, Markus J Mäkinen, Ji Eun Oh, Riitta Herva, Paul Kleihues, Hiroko Ohgaki, Lauri A Aaltonen
We previously reported a patient who had developed 2 glioblastomas at the age of 54 and 64 years, respectively. The first glioblastoma in the right frontal lobe was treated with surgery and radiotherapy. Ten years later, the patient developed a second, left frontal glioblastoma. Discordant patterns of TP53 and PTEN mutations suggested that the second tumor was not a recurrence but an independently developed glioblastoma. To determine the molecular mechanism underlying this enigmatic case with 10-year survival, we performed whole-exome sequencing...
October 1, 2017: Journal of Neuropathology and Experimental Neurology
https://www.readbyqxmd.com/read/28912153/comprehensive-genomic-profiling-of-282-pediatric-low-and-high-grade-gliomas-reveals-genomic-drivers-tumor-mutational-burden-and-hypermutation-signatures
#2
Adrienne Johnson, Eric Severson, Laurie Gay, Jo-Anne Vergilio, Julia Elvin, James Suh, Sugganth Daniel, Mandy Covert, Garrett M Frampton, Sigmund Hsu, Glenn J Lesser, Kimberly Stogner-Underwood, Ryan T Mott, Sarah Z Rush, Jennifer J Stanke, Sonika Dahiya, James Sun, Prasanth Reddy, Zachary R Chalmers, Rachel Erlich, Yakov Chudnovsky, David Fabrizio, Alexa B Schrock, Siraj Ali, Vincent Miller, Philip J Stephens, Jeffrey Ross, John R Crawford, Shakti H Ramkissoon
BACKGROUND: Pediatric brain tumors are the leading cause of death for children with cancer in the U.S. Incorporating next-generation sequencing data for both pediatric low-grade (pLGGs) and high-grade gliomas (pHGGs) can inform diagnostic, prognostic, and therapeutic decision-making. MATERIALS AND METHODS: We performed comprehensive genomic profiling on 282 pediatric gliomas (157 pHGGs, 125 pLGGs), sequencing 315 cancer-related genes and calculating the tumor mutational burden (TMB; mutations per megabase [Mb])...
September 14, 2017: Oncologist
https://www.readbyqxmd.com/read/28903413/a-novel-heterozygous-germline-deletion-in-msh2-gene-in-a-five-generation-chinese-family-with-lynch-syndrome
#3
Bin Wu, Wuyang Ji, Shengran Liang, Chao Ling, Yan You, Lai Xu, Min-Er Zhong, Yi Xiao, Hui-Zhong Qiu, Jun-Yang Lu, Santasree Banerjee
Lynch syndrome (LS) is one of the most common familial forms of colorectal cancer predisposing syndrome with an autosomal dominant mode of inheritance. LS is caused by the germline mutations in DNA mismatch repair (MMR) genes including MSH2, MLH1, MSH6 and PMS2. Clinically, LS is characterized by high incidence of early-onset colorectal cancer as well as endometrial, small intestinal and urinary tract cancers, usually occur in the third to fourth decade of the life. Here we describe a five generation Chinese family with LS clinically diagnosed according to the Amsterdam II criteria...
August 15, 2017: Oncotarget
https://www.readbyqxmd.com/read/28900805/mgmt-and-msh6-immunoexpression-for-functioning-pituitary-macroadenomas
#4
Alexander S G Micko, Adelheid Wöhrer, Romana Höftberger, Greisa Vila, Christine Marosi, Engelbert Knosp, Stefan Wolfsberger
PURPOSE: Knowledge of biological behavior is crucial for clinical management of functioning pituitary macroadenomas. For recurrent cases unresponsive to standard treatment, temozolomide (TMZ) has been used as a therapeutic alternative. MGMT (O6-methyl-guanine-DNA methyltransferase) and MSH6 (mutS homolog 6) immunoexpression have been linked to the response to TMZ treatment and MGMT immunoexpression has been additionally linked to early recurrence of non-functioning pituitary adenomas...
September 12, 2017: Pituitary
https://www.readbyqxmd.com/read/28888541/frequency-of-mutations-in-a-large-series-of-clinically-ascertained-ovarian-cancer-cases-tested-on-multi-gene-panels-compared-to-reference-controls
#5
Jenna Lilyquist, Holly LaDuca, Eric Polley, Brigette Tippin Davis, Hermela Shimelis, Chunling Hu, Steven N Hart, Jill S Dolinsky, Fergus J Couch, David E Goldgar
OBJECTIVES: Given the lack of adequate screening modalities, knowledge of ovarian cancer risks for carriers of pathogenic alterations in predisposition genes is important for decisions about risk-reduction by salpingo-oophorectomy. We sought to determine which genes assayed on multi-gene panels are associated with ovarian cancer, the magnitude of the associations, and for which clinically meaningful associations could be ruled out. METHODS: 7768 adult ovarian cancer cases of European ancestry referred to a single clinical testing laboratory underwent multi-gene panel testing for detection of pathogenic alterations in known or suspected ovarian cancer susceptibility genes...
September 7, 2017: Gynecologic Oncology
https://www.readbyqxmd.com/read/28878254/germline-mutations-in-cancer-predisposition-genes-are-frequent-in-sporadic-sarcomas
#6
Sock Hoai Chan, Weng Khong Lim, Nur Diana Binte Ishak, Shao-Tzu Li, Wei Lin Goh, Gek San Tan, Kiat Hon Lim, Melissa Teo, Cedric Ng Chuan Young, Simeen Malik, Mann Hong Tan, Jonathan Yi Hui Teh, Francis Kuok Choon Chin, Sittampalam Kesavan, Sathiyamoorthy Selvarajan, Patrick Tan, Bin Tean Teh, Khee Chee Soo, Mohamad Farid, Richard Quek, Joanne Ngeow
Associations of sarcoma with inherited cancer syndromes implicate genetic predisposition in sarcoma development. However, due to the apparently sporadic nature of sarcomas, little attention has been paid to the role genetic susceptibility in sporadic sarcoma. To address this, we performed targeted-genomic sequencing to investigate the prevalence of germline mutations in known cancer-associated genes within an Asian cohort of sporadic sarcoma patients younger than 50 years old. We observed 13.6% (n = 9) amongst 66 patients harbour at least one predicted pathogenic germline mutation in 10 cancer-associated genes including ATM, BRCA2, ERCC4, FANCC, FANCE, FANCI, MSH6, POLE, SDHA and TP53...
September 6, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28877066/clinicopathologic-and-molecular-characteristics-of-synchronous-colorectal-carcinoma-with-mismatch-repair-deficiency
#7
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/28874130/a-survey-of-the-clinicopathological-and-molecular-characteristics-of-patients-with-suspected-lynch-syndrome-in-latin-america
#8
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/28859734/analysis-of-sebaceous-neoplasms-for-dna-mismatch-repair-proteins-in-muir-torre-syndrome
#9
Tess H Pollinger, Christopher R Kieliszak, Nicholas Logemann, Max L Gratrix
Muir-Torre syndrome is a rare genodermatosis inherited most frequently in an autosomal dominant fashion. Current criteria for its diagnosis include at least one sebaceous tumor and an underlying visceral malignancy. Muir-Torre syndrome is strongly associated with a germline mutation in DNA mismatch repair genes. We report two patients with a history of colorectal carcinoma who presented with sebaceous neoplasms on the face and trunk. Immunohistochemical staining of the sebaceous neoplasms demonstrated absence of mismatch repair proteins MSH2 and MSH6...
2017: Skinmed
https://www.readbyqxmd.com/read/28832568/uptake-of-genetic-testing-by-the-children-of-lynch-syndrome-variant-carriers-across-three-generations
#10
Toni T Seppälä, Kirsi Pylvänäinen, Jukka-Pekka Mecklin
Many Lynch syndrome (LS) carriers remain unidentified, thus missing early cancer detection and prevention opportunities. Tested probands should inform their relatives about cancer risk and options for genetic counselling and predictive gene testing, but many fail to undergo testing. To assess predictive testing uptake and demographic factors influencing this decision in LS families, a cross-sectional registry-based cohort study utilizing the Finnish Lynch syndrome registry was undertaken. Tested LS variant probands (1184) had 2068 children divided among three generations: 660 parents and 1324 children (first), 445 and 667 (second), and 79 and 77 (third)...
August 23, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28831025/lncrna-xist-interacts-with-mir-29c-to-modulate-the-chemoresistance-of-glioma-cell-to-tmz-through-dna-mismatch-repair-pathway
#11
Peng Du, Haiting Zhao, Renjun Peng, Qing Liu, Jian Yuan, Gang Peng, Yiwei Liao
Temozolomide (TMZ) is the most commonly used alkylating agent in glioma chemotherapy. However, growing resistance to TMZ remains a major challenge for clinicians. Recent evidence emphasizes the key regulatory roles of non-coding RNAs (lncRNAs and miRNAs) in tumor biology, including the chemoresistance of cancers. However, little is known about the role and regulation mechanisms of lncRNA cancer X-inactive specific transcripts (XIST) in glioma tumorigenesis and chemotherapy resistance. In the present study, higher XIST expression was observed in glioma tissues and cell lines, which was related to poorer clinicopathologic features and shorter survival time...
October 31, 2017: Bioscience Reports
https://www.readbyqxmd.com/read/28820751/importance-of-pcr-based-tumor-testing-in-the-evaluation-of-lynch-syndrome-associated-endometrial-cancer
#12
Amanda S Bruegl, Annessa Kernberg, Russell R Broaddus
Lynch syndrome (LS) is a hereditary cancer syndrome caused by a germline mutation in a DNA mismatch repair gene, usually MLH1, MSH2, MSH6, or PMS2. The most common cancers associated with LS are colorectal adenocarcinoma and endometrial carcinoma. Identification of women with LS-associated endometrial cancer is important, as these women and their affected siblings and children are at-risk of developing these same cancers. Germline testing of all endometrial cancer patients is not cost effective, and screening using young age of cancer diagnosis and/or presence of family history of syndrome-associated is underutilized and ineffective...
August 17, 2017: Advances in Anatomic Pathology
https://www.readbyqxmd.com/read/28819720/immunohistochemical-null-phenotype-for-mismatch-repair-proteins-in-colonic-carcinoma-associated-with-concurrent-mlh1-hypermethylation-and-msh2-somatic-mutations
#13
Tao Wang, Zsofia K Stadler, Liying Zhang, Martin R Weiser, Olca Basturk, Jaclyn F Hechtman, Efsevia Vakiani, Lenard B Saltz, David S Klimstra, Jinru Shia
Microsatellite instability, a well-established driver pathway in colorectal carcinogenesis, can develop in both sporadic and hereditary conditions via different molecular alterations in the DNA mismatch repair (MMR) genes. MMR protein immunohistochemistry (IHC) is currently widely used for the detection of MMR deficiency in solid tumors. The IHC test, however, can show varied staining patterns, posing challenges in the interpretation of the staining results in some cases. Here we report a case of an 80-year-old female with a colonic adenocarcinoma that exhibited an unusual "null" IHC staining pattern with complete loss of all four MMR proteins (MLH1, MSH2, MSH6, and PMS2)...
August 17, 2017: Familial Cancer
https://www.readbyqxmd.com/read/28819700/sporadic-endometrial-adenocarcinoma-with-mmr-deficiency-due-to-biallelic-msh2-somatic-mutations
#14
Bruno Buecher, Antoine De Pauw, Louis Bazire, Claude Houdayer, Alice Fievet, Virginie Moncoutier, Fereshteh Farkhondeh, Samia Melaabi, Dominique Stoppa Lyonnet, Lisa Golmard
The invalidation of the Mismatch Repair (MMR) system is responsible for a so-called "deficient MMR" phenotype (dMMR) characterized by microsatellite instability and abnormal pattern of expression of MMR proteins in tumor tissue. This phenotype occurs in at least 20% of sporadic endometrial adenocarcinomas by epigenetic silencing of MLH1 gene. It is also observed in virtually all tumors occurring in patients with Lynch syndrome by monoallelic germline mutation in one of the MMR genes. The determination of this phenotype (dMMR vs...
August 17, 2017: Familial Cancer
https://www.readbyqxmd.com/read/28808021/kinetic-and-high-throughput-profiling-of-epigenetic-interactions-by-3d-carbene-chip-based-surface-plasmon-resonance-imaging-technology
#15
Shuai Zhao, Mo Yang, Wenfei Zhou, Baichao Zhang, Zhiqiang Cheng, Jiaxin Huang, Min Zhang, Zhiyou Wang, Rui Wang, Zhonglei Chen, Jinsong Zhu, Haitao Li
Chemical modifications on histones and DNA/RNA constitute a fundamental mechanism for epigenetic regulation. These modifications often function as docking marks to recruit or stabilize cognate "reader" proteins. So far, a platform for quantitative and high-throughput profiling of the epigenetic interactome is urgently needed but still lacking. Here, we report a 3D-carbene chip-based surface plasmon resonance imaging (SPRi) technology for this purpose. The 3D-carbene chip is suitable for immobilizing versatile biomolecules (e...
August 14, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28801584/differences-of-protein-expression-profiles-kras-and-braf-mutation-and-prognosis-in-right-sided-colon-left-sided-colon-and-rectal-cancer
#16
Xian Hua Gao, Guan Yu Yu, Hai Feng Gong, Lian Jie Liu, Yi Xu, Li Qiang Hao, Peng Liu, Zhi Hong Liu, Chen Guang Bai, Wei Zhang
To compare protein expression levels, gene mutation and survival among Right-Sided Colon Cancer (RSCC), Left-Sided Colon Cancer (LSCC) and rectal cancer patients, 57 cases of RSCC, 87 LSCC and 145 rectal cancer patients were included retrospectively. Our results demonstrated significant differences existed among RSCC, LSCC and rectal cancer regarding tumor diameter, differentiation, invasion depth and TNM stage. No significant difference was identified in expression levels of MLH1, MSH2, MSH6, PMS2, β-Tubulin III, P53, Ki67 and TOPIIα, and gene mutation of KRAS and BRAF among three groups...
August 11, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28800532/cell-cycle-arrest-mediated-by-cd-induced-dna-damage-in-arabidopsis-root-tips
#17
Weina Cui, Hetong Wang, Jie Song, Xia Cao, Hilary J Rogers, Dennis Francis, Chunyun Jia, Lizong Sun, Meifang Hou, Yuesuo Yang, Peidong Tai, Wan Liu
Accumulating evidence demonstrates that the aberrant expression of cell cycle regulation and DNA repair genes can result in abnormal cell proliferation and genomic instability in eukaryotic cells under different stresses. Herein, Arabidopsis thaliana (Arabidopsis) seedlings were grown hydroponically on 0.5 × MS media containing cadmium (Cd) at 0-2.5mgL(-1) for 5d of treatment. Real time quantitative reverse transcription-polymerase chain reaction (qRT-PCR) analysis revealed that expression of DNA damage repair and cell cycle regulation genes, including BRCA1, MRE11, WEE1, CDKA;1 and PCNA1, showed an inverted U-shaped dose-response...
August 8, 2017: Ecotoxicology and Environmental Safety
https://www.readbyqxmd.com/read/28795426/blinded-histopathological-characterisation-of-pole-exonuclease-domain-mutant-endometrial-cancers-sheep-in-wolf-s-clothing
#18
Inge C Van Gool, Jef E H Ubachs, Ellen Stelloo, Cor D de Kroon, Jelle J Goeman, Vincent T H B M Smit, Carien L Creutzberg, Tjalling Bosse
AIMS: POLE exonuclease domain mutations identify a subset of endometrial cancer (EC) patients with an excellent prognosis. Implementation of this biomarker has been suggested to refine adjuvant treatment decisions, but the necessary sequencing is not widely performed and relatively expensive. Therefore, we aimed to identify histopathological and immunohistochemical characteristics to aid the detection of POLE-mutant ECs. METHODS AND RESULTS: Fifty-one POLE-mutant endometrioid, 67 POLE-wild-type endometrioid and 15 POLE-wild-type serous ECs were included (total N=133)...
August 10, 2017: Histopathology
https://www.readbyqxmd.com/read/28776572/molecular-based-classification-algorithm-for-endometrial-carcinoma-categorizes-ovarian-endometrioid-carcinoma-into-prognostically-significant-groups
#19
Carlos Parra-Herran, Jordan Lerner-Ellis, Bin Xu, Sam Khalouei, Dina Bassiouny, Matthew Cesari, Nadia Ismiil, Sharon Nofech-Mozes
The Cancer Genome Atlas classification divides endometrial carcinoma in biologically distinct groups, and testing for p53, mismatch repair proteins (MMR), and polymerase ɛ (POLE) exonuclease domain mutations has been shown to predict the molecular subgroup and clinical outcome. While abnormalities in these markers have been described in ovarian endometrioid carcinoma, their role in predicting its molecular profile and prognosis is still not fully explored. Patients with ovarian endometrioid carcinomas treated surgically in a 14-year period were selected...
August 4, 2017: Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc
https://www.readbyqxmd.com/read/28772289/association-of-mismatch-repair-mutation-with-age-at-cancer-onset-in-lynch-syndrome-implications-for-stratified-surveillance-strategies
#20
Neil A J Ryan, Julie Morris, Kate Green, Fiona Lalloo, Emma R Woodward, James Hill, Emma J Crosbie, D Gareth Evans
Importance: Lynch syndrome is caused by dominantly inherited germline mutations that predispose individuals to colorectal, endometrial, ovarian, and other cancers through inactivation of the cellular mismatch repair system. Lynch syndrome-associated cancers are amenable to surveillance strategies that may improve survival. The age at which surveillance should start is disputed. Objective: To determine whether mutated gene and type of mutation influence age at onset of Lynch syndrome-associated cancers...
August 3, 2017: JAMA Oncology
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