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https://www.readbyqxmd.com/read/27928858/carcinoma-of-the-lower-uterine-segment-diagnosed-with-lynch-syndrome-based-on-msh6-germline-mutation-a-case-report
#1
Masataka Adachi, Kouji Banno, Kenta Masuda, Megumi Yanokura, Moito Iijima, Takashi Takeda, Haruko Kunitomi, Yusuke Kobayashi, Wataru Yamagami, Akira Hirasawa, Kaori Kameyama, Kokichi Sugano, Daisuke Aoki
Endometrial cancer in the lower uterine segment (LUS) is associated with Lynch syndrome with MLH1 or MSH2 germline mutation. Here, we report a case of carcinoma of the LUS diagnosed with Lynch syndrome based on MSH6 germline mutation in a 46-year-old woman with abnormal vaginal bleeding. She had had rectal cancer at age 39 with a family history of colon cancer (father, 75 years), pancreatic cancer (paternal grandmother, 74 years), and colon cancer (maternal grandmother, 85 years). Magnetic resonance imaging showed a tumor in the LUS...
December 8, 2016: Journal of Obstetrics and Gynaecology Research
https://www.readbyqxmd.com/read/27920101/prevalence-of-lynch-syndrome-and-lynch-like-syndrome-among-patients-with-colorectal-cancer-in-a-japanese-hospital-based-population
#2
Noriyasu Chika, Hidetaka Eguchi, Kensuke Kumamoto, Okihide Suzuki, Keiichiro Ishibashi, Tetsuhiko Tachikawa, Kiwamu Akagi, Jun-Ichi Tamaru, Yasushi Okazaki, Hideyuki Ishida
OBJECTIVE: We investigated the prevalence of Lynch syndrome and Lynch-like syndrome among Japanese colorectal cancer patients, as there have been no credible data from Japan. METHODS: Immunohistochemical analyses for mismatch repair proteins (MLH1, MSH2, MSH6 and PMS2) were carried out in surgically resected, formalin-fixed paraffin-embedded specimens obtained from 1,234 newly diagnosed colorectal cancer patients between March 2005 and April 2014. The presence/absence of the BRAF V600E mutation and hypermethylation of the MLH1 promoter was analyzed where necessary...
December 4, 2016: Japanese Journal of Clinical Oncology
https://www.readbyqxmd.com/read/27902704/methylation-of-breast-cancer-predisposition-genes-in-early-onset-breast-cancer-australian-breast-cancer-family-registry
#3
Cameron M Scott, JiHoon Eric Joo, Neil O'Callaghan, Daniel D Buchanan, Mark Clendenning, Graham G Giles, John L Hopper, Ee Ming Wong, Melissa C Southey
DNA methylation can mimic the effects of both germline and somatic mutations for cancer predisposition genes such as BRCA1 and p16INK4a. Constitutional DNA methylation of the BRCA1 promoter has been well described and is associated with an increased risk of early-onset breast cancers that have BRCA1-mutation associated histological features. The role of methylation in the context of other breast cancer predisposition genes has been less well studied and often with conflicting or ambiguous outcomes. We examined the role of methylation in known breast cancer susceptibility genes in breast cancer predisposition and tumor development...
2016: PloS One
https://www.readbyqxmd.com/read/27896849/cytoplasmic-msh2-immunoreactivity-in-a-patient-with-lynch-syndrome-with-an-epcam-msh2-fusion
#4
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/27873144/truncation-of-the-msh2-c-terminal-60-amino-acids-disrupts-effective-dna-mismatch-repair-and-is-causative-for-lynch-syndrome
#5
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/27870730/cutaneous-sebaceous-lesions-in-a-patient-with-mutyh-associated-polyposis-mimicking-muir-torre-syndrome
#6
Denisa Kacerovska, Lubomir Drlik, Lenka Slezakova, Michal Michal, Jan Stehlik, Monika Sedivcova, Ladislav Hadravsky, Dmitry V Kazakov
A 76-year-old white male with a history of adenocarcinoma of the rectosigmoideum and multiple colonic polyps removed at the age of 38 and 39 years by an abdominoperitoneal amputation and total colectomy, respectively, presented with multiple whitish and yellowish papules on the face and a verrucous lesion on the trunk. The lesions were surgically removed during the next 3 years and a total of 13 lesions were investigated histologically. The diagnoses included 11 sebaceous adenomas, 1 low-grade sebaceous carcinoma, and 1 squamous cell carcinoma...
December 2016: American Journal of Dermatopathology
https://www.readbyqxmd.com/read/27836416/associations-of-defect-mismatch-repair-genes-with-prognosis-and-heredity-in-sporadic-colorectal-cancer
#7
L Ghanipour, K Jirström, M Sundström, B Glimelius, H Birgisson
BACKGROUND: Microsatellite instability arises due to defect mismatch repair (MMR) and occurs in 10-20% of sporadic colorectal cancer. The purpose was to investigate correlations between defect MMR, prognosis and heredity for colorectal cancer in first-degree relatives. MATERIAL AND METHODS: Tumour tissues from 318 patients consecutively operated for colorectal cancer were analysed for immunohistochemical expression of MLH1, MSH2 and MSH6 on tissue microarrays. Information on KRAS and BRAF mutation status was available for selected cases...
October 31, 2016: European Journal of Surgical Oncology
https://www.readbyqxmd.com/read/27803051/up-regulation-of-mismatch-repair-genes-msh6-pms2-and-mlh1-parallels-development-of-genetic-instability-and-is-linked-to-tumor-aggressiveness-and-early-psa-recurrence-in-prostate-cancer
#8
Waldemar Wilczak, Semin Rashed, Claudia Hube-Magg, Martina Kluth, Ronald Simon, Franziska Büscheck, Till Sebastian Clauditz, Katharina Grupp, Sarah Minner, Maria Christina Tsourlakis, Christina Koop, Markus Graefen, Meike Adam, Alexander Haese, Corinna Wittmer, Guido Sauter, Jakob Robert Izbicki, Hartwig Huland, Thorsten Schlomm, Stefan Steurer, Till Krech, Patrick Lebok
DNA mismatch repair (MMR) is integral to the maintenance of genetic stability. We aimed to evaluate the clinical impact of MMR gene expression in prostate cancer. The MMR genes MSH6, MLH1 and PMS2 were analyzed by immunohistochemistry on a tissue microarray containing 11 152 prostate cancer specimens. Results were compared with ERG status and deletions of PTEN, 3p13, 5q21, and 6q15. MSH6, MLH1 and PMS2 expression was detectable in 89.5%, 85.4% and 85.0% of cancers, and was particularly strong in cancers with advanced pathological tumor stage (p<0...
November 1, 2016: Carcinogenesis
https://www.readbyqxmd.com/read/27799157/prevalence-and-penetrance-of-major-genes-and-polygenes-for-colorectal-cancer
#9
Aung Ko Win, Mark A Jenkins, James G Dowty, Antonis C Antoniou, Andrew Lee, Graham G Giles, Daniel D Buchanan, Mark Clendenning, Christophe Rosty, Dennis J Ahnen, Stephen N Thibodeau, Graham Casey, Steven Gallinger, Loic Le Marchand, Robert W Haile, John D Potter, Yingye Zheng, Noralane M Lindor, Polly A Newcomb, John L Hopper, Robert J MacInnis
BACKGROUND: While high-risk mutations in identified major susceptibility genes (DNA mismatch repair genes and MUTYH) account for some familial aggregation of colorectal cancer, their population prevalence and the causes of the remaining familial aggregation are not known. METHODS: We studied the families of 5,744 colorectal cancer cases (probands) recruited from population cancer registries in the USA, Canada and Australia and screened probands for mutations in mismatch repair genes and MUTYH...
October 31, 2016: Cancer Epidemiology, Biomarkers & Prevention
https://www.readbyqxmd.com/read/27779547/molecular-analysis-of-single-tumor-glands-using-the-crypt-isolation-method-in-endometrial-carcinomas
#10
Takayuki Nagasawa, Tamotsu Sugai, Tadahiro Shoji, Wataru Habano, Toru Sugiyama
OBJECTIVE: Endometrial adenocarcinomas are characterized by the presence of many single tumor glands in which multiple genetic changes have accumulated. To elucidate the differences in molecular abnormalities among single tumor glands, individual tumor glands were analyzed and microsatellite alterations (loss of heterozygosity (LOH) and microsatellite instability [MSI]) were examined using the crypt isolation method in glands from each tumor from patients with endometrial carcinoma. METHODS: Twenty-five patients with endometrial adenocarcinoma who underwent surgery were included in this study...
November 2016: International Journal of Gynecological Cancer
https://www.readbyqxmd.com/read/27771121/-muir-torre-syndrome-associated-with-waldenstrom-s-macroglobulinemia
#11
C Velter, F Bourlond, C Wettle, B Lioure, D Lipsker, C Maugard, B Cribier
BACKGROUND: Muir-Torre syndrome (MTS), a cutaneous variant of Lynch syndrome, consists of hereditary predisposition to cutaneous tumours and gastrointestinal and gynaecological neoplasms, with autosomal dominant transmission. It is associated with mutations in genes coding for proteins in the DNA mismatch repair system. PATIENTS AND METHODS: Herein, we report a case of a male patient presenting Waldenstrom's macroglobulinemia since the age of 50 and which, after the age of 65 years, developed into sebaceous tumours (5 sebaceous adenomas, 1 sebaceoma, 1 sebaceous carcinoma) and colonic lesions (4 adenomas)...
December 2016: Annales de Dermatologie et de Vénéréologie
https://www.readbyqxmd.com/read/27770786/subcellular-protein-expression-models-for-microsatellite-instability-in-colorectal-adenocarcinoma-tissue-images
#12
Violeta N Kovacheva, Nasir M Rajpoot
BACKGROUND: New bioimaging techniques capable of visualising the co-location of numerous proteins within individual cells have been proposed to study tumour heterogeneity of neighbouring cells within the same tissue specimen. These techniques have highlighted the need to better understand the interplay between proteins in terms of their colocalisation. RESULTS: We recently proposed a cellular-level model of the healthy and cancerous colonic crypt microenvironments...
October 22, 2016: BMC Bioinformatics
https://www.readbyqxmd.com/read/27766559/survival-outcome-and-risk-of-metachronous-colorectal-cancer-after-surgery-in-lynch-syndrome
#13
Tae Jun Kim, Eun Ran Kim, Sung Noh Hong, Young-Ho Kim, Jung Wook Huh, Yoon Ah Park, Yong Beom Cho, Seong Hyeon Yun, Hee Cheol Kim, Woo Yong Lee, Kiyoun Kim, Kyunga Kim, Dong Kyung Chang
BACKGROUND: The survival benefit of extensive colectomy is controversial in Lynch syndrome, and risk factors for metachronous colorectal cancer (CRC) after segmental colectomy are unclear. OBJECTIVE: The aim of this study was to investigate the survival outcome and risk of metachronous CRC after surgery in Lynch syndrome patients diagnosed with their first CRC. METHODS: Overall, 106 patients with Lynch syndrome who underwent surgery for CRC were included in the study...
October 20, 2016: Annals of Surgical Oncology
https://www.readbyqxmd.com/read/27765925/receptor-tyrosine-kinase-amplified-gastric-cancer-clinicopathologic-characteristics-and-proposed-screening-algorithm
#14
Cheol Keun Park, Ji Soo Park, Hyo Song Kim, Sun Young Rha, Woo Jin Hyung, Jae-Ho Cheong, Sung Hoon Noh, Sang Kil Lee, Yong Chan Lee, Yong-Min Huh, Hyunki Kim
Although targeted therapy for receptor tyrosine kinases (RTKs) of advanced gastric cancers (AGCs) has been in the spotlight, guidelines for the identification of RTK-amplified gastric cancers (RA-GCs) have not been established. In this study, we investigate clinicopathologic characteristics of RA-GCs and propose a screening algorithm for their identification. We performed immunohistochemistry (IHC) for MLH1, MSH2, PMS2, MSH6, key RTKs (EGFR, HER2, MET), and p53, in situ hybridization for Epstein-Barr virus encoding RNA, and silver in situ hybridization (SISH) for EGFR, HER2, and MET using tissue microarrays of 993 AGCs...
September 27, 2016: Oncotarget
https://www.readbyqxmd.com/read/27756888/mismatch-repair-deficiency-may-be-common-in-ductal-adenocarcinoma-of-the-prostate
#15
Michael T Schweizer, Heather H Cheng, Maria S Tretiakova, Funda Vakar-Lopez, Nola Klemfuss, Eric Q Konnick, Elahe A Mostaghel, Peter S Nelson, Evan Y Yu, Bruce Montgomery, Lawrence D True, Colin C Pritchard
Precision oncology entails making treatment decisions based on a tumor's molecular characteristics. For prostate cancer, identifying clinically relevant molecular subgroups is challenging, as molecular profiling is not routine outside of academic centers. Since histologic variants of other cancers correlates with specific genomic alterations, we sought to determine if ductal adenocarcinoma of the prostate (dPC) - a rare and aggressive histopathologic variant - was associated with any recurrent actionable mutations...
October 15, 2016: Oncotarget
https://www.readbyqxmd.com/read/27754426/methylation-analysis-of-dna-mismatch-repair-genes-using-dna-derived-from-the-peripheral-blood-of-patients-with-endometrial-cancer-epimutation-in-endometrial-carcinogenesis
#16
Takashi Takeda, Kouji Banno, Megumi Yanokura, Masataka Adachi, Moito Iijima, Haruko Kunitomi, Kanako Nakamura, Miho Iida, Yuya Nogami, Kiyoko Umene, Kenta Masuda, Yusuke Kobayashi, Wataru Yamagami, Akira Hirasawa, Eiichiro Tominaga, Nobuyuki Susumu, Daisuke Aoki
Germline mutation of DNA mismatch repair (MMR) genes is a cause of Lynch syndrome. Methylation of MutL homolog 1 (MLH1) and MutS homolog 2 (MSH2) has been detected in peripheral blood cells of patients with colorectal cancer. This methylation is referred to as epimutation. Methylation of these genes has not been studied in an unselected series of endometrial cancer cases. Therefore, we examined methylation of MLH1, MSH2, and MSH6 promoter regions of peripheral blood cells in 206 patients with endometrial cancer using a methylation-specific polymerase chain reaction (MSP)...
October 14, 2016: Genes
https://www.readbyqxmd.com/read/27742654/practical-guidance-for-mismatch-repair-deficiency-testing-in-endometrial-cancer
#17
E Stelloo, A M L Jansen, E M Osse, R A Nout, C L Creutzberg, D Ruano, D N Church, H Morreau, V T H B M Smit, T van Wezel, T Bosse
BACKGROUND: Mismatch repair (MMR)-deficiency analysis is increasingly recommended for all endometrial cancers, as it identifies Lynch syndrome-patients, and is emerging as a prognostic classifier to guide adjuvant treatment. The aim of this study was to define the optimal approach for MMR-deficiency testing and to clarify discrepancies between microsatellite instability (MSI) analysis and immunohistochemical (IHC) analysis of MMR protein expression. PATIENTS AND METHODS: 696 endometrial cancers were analyzed for MSI (pentaplex panel) and MMR protein expression (IHC)...
October 13, 2016: Annals of Oncology: Official Journal of the European Society for Medical Oncology
https://www.readbyqxmd.com/read/27734272/distinct-expression-profile-of-key-molecules-in-crawling-type-early-gastric-carcinoma
#18
Ha Young Woo, Yoon Sung Bae, Jie-Hyun Kim, Sang Kil Lee, Yong Chan Lee, Jae-Ho Cheong, Sung Hoon Noh, Hyunki Kim
BACKGROUND: Gastric "crawling-type" adenocarcinoma (CRA) is a tumor histologically characterized by irregularly fused glands with low-grade cellular atypia that tends to spread laterally in the mucosa. To date, the expression characteristics of the key molecules involved in CRA, including receptor tyrosine kinases (RTKs), mismatch repair (MMR) proteins, phosphatase and tensin homolog (PTEN), as well as the Epstein-Barr virus (EBV) status, have yet to be uncovered. METHODS: We constructed tissue microarrays of 94 CRAs, 72 conventional-type differentiated adenocarcinomas (CDAs), and 71 intramucosal poorly cohesive adenocarcinomas (PCAs) from early gastric cancers to evaluate and compare the pathological and expression profiles of potential key molecules for molecular classification (EBV; four MMR proteins-MLH1, MSH2, PMS2, and MSH6; three RTKs-HER2, MET, and EGFR; PTEN; and p53)...
October 12, 2016: Gastric Cancer
https://www.readbyqxmd.com/read/27713421/upper-tract-urothelial-carcinomas-frequency-of-association-with-mismatch-repair-protein-loss-and-lynch-syndrome
#19
Holly L Harper, Jesse K McKenney, Brandie Heald, Andrew Stephenson, Steven C Campbell, Thomas Plesec, Cristina Magi-Galluzzi
Increased risk for upper tract urothelial carcinoma is described in patients with Lynch syndrome, caused by germline mutations in mismatch repair genes. We aimed to identify the frequency of mismatch repair protein loss in upper tract urothelial carcinoma and its potential for identifying an association with Lynch syndrome. We queried our database to identify upper tract urothelial carcinomas. Patients were cross-referenced for history of colorectal carcinoma or other common Lynch syndrome-associated neoplasms to enrich for potential Lynch syndrome cases...
October 7, 2016: Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc
https://www.readbyqxmd.com/read/27672217/the-role-of-mirna-21-and-epithelial-mesenchymal-transition-emt-process-in-colorectal-cancer
#20
Anelisa Jaca, Padmini Govender, Michael Locketz, Richard Naidoo
AIMS: The study was conducted to assess the expression levels of epithelial mesenchymal transition (EMT) proteins (E-cadherin, N-cadherin, snail-1 and vimentin) and miRNA-21. In addition, we correlated these data with clinicopathological features in Colorectal cancer. METHODS: H&E slides from a total of 59 formalin fixed paraffin embedded tissue blocks were examined by a pathologist to demarcate normal and tumour regions. Immunohistochemical analysis of mismatch repair proteins (MLH1, MSH2 and MSH6) and EMT markers (E-cadherin, N-cadherin, snail-1 and vimentin) was performed...
September 26, 2016: Journal of Clinical Pathology
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