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https://www.readbyqxmd.com/read/29342268/reduced-expression-of-mismatch-repair-genes-msh6-msh2-directly-promotes-pituitary-tumor-growth-via-the-atr-chk1-pathway
#1
Shinsuke Uraki, Hiroyuki Ariyasu, Asako Doi, Shintaro Kawai, Ken Takeshima, Shuhei Morita, Junya Fukai, Koji Fujita, Hiroto Furuta, Masahiro Nishi, Kokichi Sugano, Naoko Inoshita, Naoyuki Nakao, Shozo Yamada, Takashi Akamizu
Context: The mechanisms of pituitary adenoma (PA) pathogenesis and proliferation remain largely unknown. Objectives: To evaluate the direct association between PA proliferation and expression of mismatch repair (MMR) genes and proteins, and to clarify the role of MMR genes in the molecular mechanism of PA proliferation. Experimental Design: We performed quantitative analyses by real-time PCR and immunohistochemistry to detect MMR gene and protein expression in human PAs (n = 47)...
January 12, 2018: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/29329588/accuracy-of-four-mononucleotide-repeat-markers-for-the-identification-of-dna-mismatch-repair-deficiency-in-solid-tumors
#2
Yuko Takehara, Takeshi Nagasaka, Akihiro Nyuya, Tomoko Haruma, Junko Haraga, Yoshiko Mori, Keiichiro Nakamura, Toshiyoshi Fujiwara, C Richard Boland, Ajay Goel
BACKGROUND: To screen tumors with microsatellite instability (MSI) arising due to DNA mismatch repair deficiency (dMMR), a panel of five quasi-monomorphic mononucleotide-repeat markers amplified in a multiplex PCR (Pentaplex) are commonly used. In spite of its several strengths, the pentaplex assay is not robust at detecting the loss of MSH6-deficiency (dMSH6). In order to overcome this challenge, we designed this study to develop and optimize a panel of four quasi-monomorphic mononucleotide-repeat markers (Tetraplex) for identifying solid tumors with dMMR, especially dMSH6...
January 12, 2018: Journal of Translational Medicine
https://www.readbyqxmd.com/read/29324546/applying-precision-medicine-to-ovarian-cancer-proof-of-principle-for-a-molecular-second-look
#3
Melissa Schwartz, Olga Camacho-Vanegas, Ashley M Wood, Matthew Dashkoff, Courtney Whitelock, Timothy T Harkins, Carmel J Cohen, Ann Marie Beddoe, Peter Dottino, John A Martignetti
OBJECTIVES: The objectives of this study were to assess if targeted investigation for tumor-specific mutations by ultradeep DNA sequencing of peritoneal washes of ovarian cancer patients after primary surgical debulking and chemotherapy, and clinically diagnosed as disease free, provides a more sensitive and specific method to assess actual treatment response and tailor future therapy and to compare this "molecular second look" with conventional cytology and histopathology-based findings...
January 10, 2018: International Journal of Gynecological Cancer
https://www.readbyqxmd.com/read/29302048/diagnostic-challenges-in-a-child-with-early-onset-desmoplastic-medulloblastoma-and-homozygous-variants-in-msh2-and-msh6
#4
Julia Taeubner, Katharina Wimmer, Martine Muleris, Olivier Lascols, Chrystelle Colas, Christine Fauth, Triantafyllia Brozou, Joerg Felsberg, Jasmin Riemer, Michael Gombert, Sebastian Ginzel, Jessica I Hoell, Arndt Borkhardt, Michaela Kuhlen
Constitutional mismatch repair deficiency (CMMRD) is an autosomal recessively inherited childhood cancer susceptibility syndrome caused by biallelic germline mutations in one of the mismatch repair (MMR) genes. The spectrum of CMMRD-associated tumours is very broad and many CMMRD patients additionally display signposting non-neoplastic features, most frequently café-au-lait macules and other pigmentation alterations. We report on a 13-month-old girl suspected of having CMMRD due to a desmoplastic medulloblastoma and a striking skin pigmentation that included multiple café-au-lait macules, hypopigmented areas and Mongolian spots...
January 4, 2018: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/29288294/haplotype-analysis-suggest-that-the-mlh1-c-2059c%C3%A2-%C3%A2-t-mutation-is-a-swedish-founder-mutation
#5
Jenny von Salomé, Tao Liu, Markku Keihäs, Moni Morak, Elke Holinski-Feder, Ian R Berry, Jukka S Moilanen, Stéphanie Baert-Desurmont, Annika Lindblom, Kristina Lagerstedt-Robinson
Lynch syndrome (LS) predisposes to a spectrum of cancers and increases the lifetime risk of developing colorectal- or endometrial cancer to over 50%. Lynch syndrome is dominantly inherited and is caused by defects in DNA mismatch-repair genes MLH1, MSH2, MSH6 or PMS2, with the vast majority detected in MLH1 and MSH2. Recurrent LS-associated variants observed in apparently unrelated individuals, have either arisen de novo in different families due to mutation hotspots, or are inherited from a founder (a common ancestor) that lived several generations back...
December 29, 2017: Familial Cancer
https://www.readbyqxmd.com/read/29286535/the-changing-landscape-of-lynch-syndrome-due-to-pms2-mutations
#6
REVIEW
J Blount, A Prakash
DNA repair pathways are essential for cellular survival as our DNA is constantly under assault from both exogenous and endogenous DNA damaging agents. Five major mammalian DNA repair pathways exist within a cell to maintain genomic integrity. Of these, the DNA mismatch repair (MMR) pathway is highly conserved among species and is well documented in bacteria. In humans, the importance of MMR is underscored by the discovery that a single mutation in any one of four genes within the MMR pathway (MLH1, MSH2, MSH6 and PMS2) results in Lynch syndrome (LS)...
December 29, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/29279706/metachronous-and-synchronous-occurrence-of-5-primary-malignancies-in-a-female-patient-between-1997-and-2013-a-case-report-with-germline-and-somatic-genetic-analysis
#7
Jenny Nyqvist, Fredrik Persson, Toshima Z Parris, Khalil Helou, Elisabeth Kenne Sarenmalm, Zakaria Einbeigi, Åke Borg, Per Karlsson, Anikó Kovács
The number of patients with multiple primary malignancies has been increasing steadily in recent years. In the present study, we describe a unique case of an 81-year-old woman with 5 metachronous and synchronous primary malignant neoplasms. The patient was first diagnosed with an endometrium adenocarcinoma in 1997 and a colon adenocarcinoma in 2002. Eleven years after her colon surgery, in 2013, the patient presented with 3 other primary malignancies within a 4-month time span: an invasive malignant melanoma on the lower leg, an invasive mucinous breast carcinoma in the right breast, and a pleomorphic spindle cell sarcoma on the left upper arm...
September 2017: Case Reports in Oncology
https://www.readbyqxmd.com/read/29250677/malignant-cutaneous-mixed-tumor-with-sebaceous-differentiation
#8
Angel Fernandez-Flores, David Samuel Cassarino
Malignant cutaneous mixed tumor (CMT) is a very rare adnexal tumor with biphasic differentiation. In rare cases, a benign CMT (chondroid syringoma) undergoes malignant transformation. Sebaceous differentiation in a cutaneous malignant mixed tumor has not been previously reported. We present a malignant CMT with sebaceous differentiation, which occurred on the scalp of an 81-year-old man. The tumor showed epithelial elements composed of relatively small and bland-appearing ductal and cord-like structures lined by small, cuboidal-shaped adnexal cells, with a few large, dilated gland-like spaces lined by larger, apocrine-appearing cells with abundant eosinophilic-staining cytoplasm...
2017: Romanian Journal of Morphology and Embryology, Revue Roumaine de Morphologie et Embryologie
https://www.readbyqxmd.com/read/29245953/distinctive-dna-mismatch-repair-and-apc-rare-variants-in-african-americans-with-colorectal-neoplasia
#9
Hassan Ashktorab, Hamed Azimi, Sudhir Varma, Payaam Tavakoli, Michael L Nickerson, Hassan Brim
Purpose: African Americans have a higher incidence and mortality from colorectal cancer. This disparity might be due, in part, to the type of mutations in driver genes. In this study, we examined alterations specific to APC, MSH3, and MSH6 genes using targeted exome sequencing to determine distinctive variants in the course of neoplastic transformation. Experimental Design: A total of 140 African American colon samples (30 normal, 21 adenomas, 33 advanced adenomas and 56 cancers) were used as our discovery set on an Ion Torrent platform...
November 21, 2017: Oncotarget
https://www.readbyqxmd.com/read/29238914/clinical-and-genetic-implications-of-dna-mismatch-repair-deficiency-in-biliary-tract-cancers-associated-with-lynch-syndrome
#10
Jordan M Cloyd, Yun Shin Chun, Naruhiko Ikoma, Jean Nicolas Vauthey, Tlhomas A Aloia, Amanda Cuddy, Miguel A Rodriguez-Bigas, Y Nancy You
PURPOSE: Patients with Lynch syndrome (LS) have a significantly elevated lifetime risk of developing biliary tract cancers (BTCs) compared to the general population. However, few studies have characterized the clinical characteristics, genetic features, or long-term outcomes of mismatch-repair deficient (dMMR) cholangiocarcinomas associated with LS. METHODS: A retrospective review of a prospectively maintained Familial High-Risk GI Cancer Clinic database identified all patients with BTCs evaluated from 2006 to 2016 who carried germline mutations in MLH1, MSH2, MSH6, or PMS2...
December 14, 2017: Journal of Gastrointestinal Cancer
https://www.readbyqxmd.com/read/29237405/prevalence-and-characteristics-of-hereditary-non-polyposis-colorectal-cancer-hnpcc-syndrome-in-immigrant-asian-colorectal-cancer-patients
#11
Jasmine Lee, Yin-Yi Xiao, Yan Yu Sun, Jasminka Balderacchi, Bradley Clark, Jatin Desani, Vivek Kumar, Angela Saverimuthu, Khin Than Win, Yiwu Huang, Yiqing Xu
BACKGROUND: The prevalence of Hereditary Non-Polyposis Colorectal Cancer (HNPCC) is 2 to 5% in the Caucasian population. HNPCC is caused by genomic mutations in DNA mismatch repair genes (MMR), namely MLH1, MSH2, MSH6, PMS2, and EPCAM. A non-hereditary, acquired process of hypermethylation of the MLH1 promoter can also lead to silencing of MLH1 protein expression. Diagnosis of HNPCC in patients with colorectal and other related cancers is important in the clinical treatment and surveillance of related cancers...
December 13, 2017: BMC Cancer
https://www.readbyqxmd.com/read/29216888/telomere-heterogeneity-linked-to-metabolism-and-pluripotency-state-revealed-by-simultaneous-analysis-of-telomere-length-and-rna-seq-in-the-same-human-embryonic-stem-cell
#12
Hua Wang, Kunshan Zhang, Yifei Liu, Yudong Fu, Shan Gao, Peng Gong, Haiying Wang, Zhongcheng Zhou, Ming Zeng, Zhenfeng Wu, Yu Sun, Tong Chen, Siguang Li, Lin Liu
BACKGROUND: Telomere length heterogeneity has been detected in various cell types, including stem cells and cancer cells. Cell heterogeneity in pluripotent stem cells, such as embryonic stem cells (ESCs), is of particular interest; however, the implication and mechanisms underlying the heterogeneity remain to be understood. Single-cell analysis technology has recently been developed and effectively employed to investigate cell heterogeneity. Yet, methods that can simultaneously measure telomere length and analyze the global transcriptome in the same cell have not been available until now...
December 8, 2017: BMC Biology
https://www.readbyqxmd.com/read/29164703/clinicopathological-characteristics-of-patients-with-upper-urinary-tract-urothelial-cancer-with-loss-of-immunohistochemical-expression-of-the-dna-mismatch-repair-proteins-in-universal-screening
#13
Shinji Urakami, Naoko Inoshita, Suguru Oka, Yu Miyama, Sachio Nomura, Masami Arai, Kazushige Sakaguchi, Kazuhiro Kurosawa, Toshikazu Okaneya
OBJECTIVES: To assess the detection rate of putative Lynch syndrome-associated upper urinary tract urothelial cancer among all upper urinary tract urothelial cancers and to examine its clinicopathological characteristics. METHODS: A total of 143 patients with upper urinary tract urothelial cancer who had received total nephroureterectomy were immunohistochemically stained for the expression of mismatch repair proteins MLH1, PMS2, MSH2 and MSH6. For all suspected mismatch repair-deficient cases, MMR genetic testing was recommended and clinicopathological features were examined...
November 22, 2017: International Journal of Urology: Official Journal of the Japanese Urological Association
https://www.readbyqxmd.com/read/29158190/prevalence-of-microsatellite-instability-in-intraductal-papillary-mucinous-neoplasms-of-the-pancreas
#14
R M Lupinacci, A Goloudina, O Buhard, J B Bachet, R Maréchal, P Demetter, J Cros, A Bardier-Dupas, A Collura, P Cervera, A Scriva, S Dumont, P Hammel, A Sauvanet, C Louvet, J-R Delpéro, F Paye, J-C Vaillant, T André, J Closset, J-F Emile, J-L Van Laethem, V Jonchère, I Abd Alsamad, M Antoine, A Rodenas, J F Fléjou, N Dusetti, J Iovanna, A Duval, M Svrcek
Microsatellite instability (MSI) due to mismatch repair deficiency (dMMR) is detected in a small proportion of pancreatic ductal adenocarcinomas (PDACs). dMMR and MSI have been associated with responses of metastatic tumors, including PDACs, to immune checkpoint inhibitor therapy. We performed immunohistochemical analyses of a 445 PDAC specimens, collected from consecutive patients at multiple centers, to identify those with dMMR, based on loss of mismatch repair proteins MLH1, MSH2, MSH6, and/or PMS2. We detected dMMR in 1...
November 17, 2017: Gastroenterology
https://www.readbyqxmd.com/read/29147930/snp-association-study-in-pms2-associated-lynch-syndrome
#15
Sanne W Ten Broeke, Fadwa A Elsayed, Lisa Pagan, Maran J W Olderode-Berends, Encarna Gomez Garcia, Hans J P Gille, Liselot P van Hest, Tom G W Letteboer, Lizet E van der Kolk, Arjen R Mensenkamp, Theo A van Os, Liesbeth Spruijt, Bert J W Redeker, Manon Suerink, Yvonne J Vos, Anja Wagner, Juul T Wijnen, E W Steyerberg, Carli M J Tops, Tom van Wezel, Maartje Nielsen
Lynch syndrome (LS) patients are at high risk of developing colorectal cancer (CRC). Phenotypic variability might in part be explained by common susceptibility loci identified in Genome Wide Association Studies (GWAS). Previous studies focused mostly on MLH1, MSH2 and MSH6 carriers, with conflicting results. We aimed to determine the role of GWAS SNPs in PMS2 mutation carriers. A cohort study was performed in 507 PMS2 carriers (124 CRC cases), genotyped for 24 GWAS SNPs, including SNPs at 11q23.1 and 8q23.3...
November 17, 2017: Familial Cancer
https://www.readbyqxmd.com/read/29146522/germline-genetic-features-of-young-individuals-with-colorectal-cancer
#16
Elena M Stoffel, Erika Koeppe, Jessica Everett, Peter Ulintz, Mark Kiel, Jenae Osborne, Linford Williams, Kristen Hanson, Stephen B Gruber, Laura S Rozek
BACKGROUND & AIMS: The incidence of colorectal cancer (CRC) in individuals younger than 50 years old is increasing. We sought to ascertain the proportion of young CRC cases associated with genetic predisposition. METHODS: We performed a retrospective study of individuals diagnosed with CRC at an age younger than 50 years, evaluated by the clinical genetics service at a single tertiary care cancer center from 1998 through 2015. We collected data on patient histories, tumor phenotypes, and results of germline DNA sequencing...
November 12, 2017: Gastroenterology
https://www.readbyqxmd.com/read/29137657/p53-aberrations-in-low-grade-endometrioid-carcinoma-of-the-endometrium-with-nodal-metastases-possible-insights-on-pathogenesis-discerned-from-immunohistochemistry
#17
Oluwole Fadare, Vinita Parkash
BACKGROUND: TP53 mutations are rarely identified in low grade endometrioid carcinoma of the endometrium, and their pathogenic significance in such tumors is evidenced by the fact that TP53 aberrations have been associated with reduced recurrence-free survival in this subset of tumors. However, TP53 aberrations may not always represent a driving molecular event in a given endometrial cancer with a mutation. In this case study, the immunophenotype of a distinctive low grade endometrioid adenocarcinoma with an unusual pattern of lymph node metastases is used to explore the possible roles for underlying TP53-related molecular events in its pathogenesis...
November 14, 2017: Diagnostic Pathology
https://www.readbyqxmd.com/read/29133960/divergent-roles-for-clusterin-in-lung-injury-and-repair
#18
David M Habiel, Ana Camelo, Milena Espindola, Timothy Burwell, Richard Hanna, Elena Miranda, Alan Carruthers, Matthew Bell, Ana Lucia Coelho, Hao Liu, Fernanda Pilataxi, Lori Clarke, Ethan Grant, Arthur Lewis, Bethany Moore, Darryl A Knight, Cory M Hogaboam, Lynne A Murray
Lung fibrosis is an unabated wound healing response characterized by the loss and aberrant function of lung epithelial cells. Herein, we report that extracellular Clusterin promoted epithelial cell apoptosis whereas intracellular Clusterin maintained epithelium viability during lung repair. Unlike normal and COPD lungs, IPF lungs were characterized by significantly increased extracellular Clusterin whereas the inverse was evident for intracellular Clusterin. In vitro and in vivo studies demonstrated that extracellular Clusterin promoted epithelial cell apoptosis while intercellular Clusterin modulated the expression of the DNA repair proteins, MSH2, MSH6, OGG1 and BRCA1...
November 13, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29133142/dedifferentiated-endometrial-carcinomas-with-neuroendocrine-features-a-clinicopathologic-immunohistochemical-and-molecular-genetic-study
#19
Iñigo Espinosa, Antonio De Leo, Emanuela D'Angelo, Juan M Rosa-Rosa, Marina Corominas, Alan Gonzalez, José Palacios, Jaime Prat
Undifferentiated endometrial carcinoma is an aggressive type of uterine cancer which is occasionally associated with a low-grade endometrioid carcinoma component. This combination is referred to as "dedifferentiated endometrioid endometrial carcinoma." Neuroendocrine expression may occur in undifferentiated endometrial carcinoma but its significance in dedifferentiated endometrial carcinomas is unknown. To gain insight into the pathogenesis of these tumors we have analyzed the immunophenotype (ARID1A, MLH1, PMS2, MSH2, MSH6, p53, b-catenin, SMARCB1, synaptophysin, chromogranin A, and CD56) and mutational status (PTEN, KRAS, PIK3CA, TP53 and POLE) of 4 dedifferentiated endometrial carcinomas with strong and diffuse neuroendocrine expression...
November 10, 2017: Human Pathology
https://www.readbyqxmd.com/read/29107668/universal-screening-for-lynch-syndrome-in-endometrial-cancers-frequency-of-germline-mutations-and-identification-of-patients-with-lynch-like-syndrome
#20
Jessica L Dillon, Jorge L Gonzalez, Leslie DeMars, Katarzyna J Bloch, Laura J Tafe
Lynch syndrome (LS) is an inherited clinical syndrome characterized by a high risk of colorectal, endometrial (lifetime risk of up to 60%), ovarian and urinary tract cancers. The diagnosis is confirmed by identification of germline mutations in the DNA mismatch repair (MMR) genes MLH1, PMS2, MSH2, MSH6, or EPCAM. In 2015, our institution implemented universal screening of endometrial cancer hysterectomy specimens by MMR immunohistochemistry (IHC) with reflex MLH1 promoter hypermethylation analysis for tumors with loss of MLH1/PMS2 expression...
October 28, 2017: Human Pathology
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