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MLH1 hypermethylation

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https://www.readbyqxmd.com/read/29124495/excluding-lynch-syndrome-in-a-female-patient-with-metachronous-dna-mismatch-repair-deficient-colon-and-ovarian-cancer
#1
Stijn Crobach, Anne M L Jansen, Marjolein J L Ligtenberg, Marije Koopmans, Maartje Nielsen, Frederik J Hes, Juul T Wijnen, Winand N M Dinjens, Tom van Wezel, Hans Morreau
Patients synchronously or metachronously presenting with ovarian and colon cancer can pose diagnostic challenges. A primary colon carcinoma can metastasize to one or both ovaries, two independent primary tumors can arise or an ovarian carcinoma can metastasize to the colon. Clinical and immunohistochemical characterization can aid the diagnosis. Recently, we reported that in difficult cases finding pathogenic APC variants supports a colonic origin.In this case report we describe the clinical history of a female patient suspected for Lynch syndrome...
November 9, 2017: Familial Cancer
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
#2
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
https://www.readbyqxmd.com/read/29055842/clinical-and-molecular-characterisation-of-hereditary-and-sporadic-metastatic-colorectal-cancers-harbouring-microsatellite-instability-dna-mismatch-repair-deficiency
#3
R Cohen, O Buhard, P Cervera, E Hain, S Dumont, A Bardier, J-B Bachet, J-M Gornet, D Lopez-Trabada, S Dumont, R Kaci, P Bertheau, F Renaud, F Bibeau, Y Parc, D Vernerey, A Duval, M Svrcek, Thierry André
BACKGROUND: Patients treated with chemotherapy for microsatellite unstable (MSI) and/or mismatch repair deficient (dMMR) cancer metastatic colorectal cancer (mCRC) exhibit poor prognosis. We aimed to evaluate the relevance of distinguishing sporadic from Lynch syndrome (LS)-like mCRCs. PATIENTS AND METHODS: MSI/dMMR mCRC patients were retrospectively identified in six French hospitals. Tumour samples were screened for MSI, dMMR, RAS/RAF mutations and MLH1 methylation...
October 19, 2017: European Journal of Cancer
https://www.readbyqxmd.com/read/28983945/association-between-promoter-methylation-of-mlh1-and-msh2-and-reactive-oxygen-species-in-oligozoospermic-men-a-pilot-study
#4
S Gunes, A Agarwal, R Henkel, A M Mahmutoglu, R Sharma, S C Esteves, A Aljowair, D Emirzeoglu, A Alkhani, L Pelegrini, A Joumah, E Sabanegh
MLH1 and MSH2 are important genes for DNA mismatch repair and crossing over during meiosis and are implicated in male infertility. Therefore, the methylation patterns of the DNA mismatch repair genes MLH1 and MSH2 in oligozoospermic males were investigated. Ten oligozoospermic patients and 29 normozoospermic donors were analysed. Methylation profiles of the MLH1 and MSH2 promotors were analysed. In addition, sperm motility and seminal reactive oxygen species (ROS) were recorded. Receiver operating characteristic (ROC) analysis was conducted to determine the accuracy of the DNA methylation status of MLH1 and MSH2 to distinguish between oligozoospermic and normozoospermic men...
October 6, 2017: Andrologia
https://www.readbyqxmd.com/read/28877066/clinicopathologic-and-molecular-characteristics-of-synchronous-colorectal-carcinoma-with-mismatch-repair-deficiency
#5
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/28874631/the-prognostic-role-of-microsatellite-instability-in-colorectal-cancer-patients
#6
Bogdan V Micu, Octavian Andercou, Stefan C Vesa, Carmen M Micu, Tudor R Pop, Nicolae Constantea
BACKGROUND: Data from the literature regarding the prognostic role of DNA mismatch repair system (MMR) in colorectal cancer are still controversial. AIM: The aim of the study was to identify the prognostic role of different phenotypic, clinical and pathological characteristics in microsatellite unstable vs. microsatellite stable colorectal cancer in terms of survival and disease free interval. METHODS: We conducted a retrospective study that included a total of 103 patients who underwent curative surgery for colorectal cancer...
July 28, 2017: Annali Italiani di Chirurgia
https://www.readbyqxmd.com/read/28857158/promoter-hypermethylation-in-plasma-derived-cell-free-dna-as-a-prognostic-marker-for-pancreatic-adenocarcinoma-staging
#7
Stine Dam Henriksen, Poul Henning Madsen, Anders Christian Larsen, Martin Berg Johansen, Inge Søkilde Pedersen, Henrik Krarup, Ole Thorlacius-Ussing
Correct staging of pancreatic cancer is paramount, as treatment is stage specific. However, minimally invasive tools to facilitate staging are lacking. DNA promoter hypermethylation is a hallmark of cancer. The aim of this study is to evaluate promoter hypermethylation in cell-free DNA as a prognostic marker for stage classification of pancreatic adenocarcinoma. Consecutive patients with pancreatic adenocarcinoma were prospectively included. Plasma samples were obtained before diagnostic work-up and treatment...
December 15, 2017: International Journal of Cancer. Journal International du Cancer
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
#8
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/28728506/microsatellite-instability-and-promoter-hypermethylation-of-dna-repair-genes-in-hematologic-malignancies-a-forthcoming-direction-toward-diagnostics
#9
Priyanjali Bhattacharya, Trupti N Patel
OBJECTIVE: The objective of our review is to highlight the significance of microsatellite hypervariation in diagnostics of hematologic malignancies. METHODS: For the past few decades, extensive experiments in cancer research have explored all the possible pathways and a number of deleterious mutations that either make the tumor suppressor genes (TSGs) dysfunctional or cause the proto-oncogenes to behave abnormally by changing the cellular phenotype hence rendering disease...
July 20, 2017: Hematology (Amsterdam, Netherlands)
https://www.readbyqxmd.com/read/28693799/the-current-value-of-determining-the-mismatch-repair-status-of-colorectal-cancer-a-rationale-for-routine-testing
#10
REVIEW
E Ryan, K Sheahan, B Creavin, H M Mohan, D C Winter
Colorectal Cancer (CRC) is the third most prevalent cancer in men and women. Up to 15% of CRCs display microsatellite instability (MSI). MSI is reflective of a deficient mismatch repair (MMR) system and is most commonly caused by hypermethylation of the MLH1 promoter. However, it may also be due to autosomal dominant constitutional mutations in DNA MMR, termed Lynch Syndrome. MSI may be diagnosed via polymerase chain reaction (PCR) or alternatively, immunohistochemistry (IHC) can identify MMR deficiency (dMMR)...
August 2017: Critical Reviews in Oncology/hematology
https://www.readbyqxmd.com/read/28669579/lessons-learnt-from-implementation-of-a-lynch-syndrome-screening-program-for-patients-with-gynaecological-malignancy
#11
Fedaa Najdawi, Ashley Crook, Jayne Maidens, Christopher McEvoy, Andrew Fellowes, Justine Pickett, Musei Ho, David Nevell, Kirsten McIlroy, Amy Sheen, Loretta Sioson, Mahsa Ahadi, John Turchini, Adele Clarkson, Russell Hogg, Sue Valmadre, Greg Gard, Susan J Dooley, Rodney J Scott, Stephen B Fox, Michael Field, Anthony J Gill
Despite a trend towards universal testing, best practice to screen patients presenting with gynaecological malignancy for Lynch syndrome (LS) is uncertain. We report our institutional experience of a co-ordinated gynaecological LS screening program. All patients with endometrial carcinoma or carcinosarcoma, or gynaecological endometrioid or clear cell carcinomas undergo reflex four panel immunohistochemistry (IHC) for MLH1, PMS2, MSH2 and MSH6 followed by cascade somatic hypermethylation analysis of the MLH1 promoter locus for dual MLH1/PMS2 negative tumours...
August 2017: Pathology
https://www.readbyqxmd.com/read/28510097/ago-austria-recommendation-on-screening-and-diagnosis-of-lynch-syndrome-ls
#12
Alain G Zeimet, Harald Mori, Edgar Petru, Stephan Polterauer, Alexander Reinthaller, Christian Schauer, Tonja Scholl-Firon, Christian Singer, Katharina Wimmer, Johannes Zschocke, Christian Marth
PURPOSE: This manuscript reports the consensus recommendations on screening and diagnosis of Lynch syndrome (LS) in patients with endometrial or ovarian cancer as well as on possible preventive measures in effectively LS-diagnosed women. The recommendations are issued by the Austrian Arbeitsgemeinschaft für Gynäkologische Onkologie (AGO) of the Österreichischen Gesellschaft für Gynäkologie und Geburtshilfe (OEGGG) after consultation of the most recent and relevant literature and following deliberation by the Genetic Task-Force convoked May, 2015 by the AGO Council...
July 2017: Archives of Gynecology and Obstetrics
https://www.readbyqxmd.com/read/28494767/intestinal-differentiated-mucinous-adenocarcinoma-of-the-endometrium-with-sporadic-msi-high-status-a-case-report
#13
Mafalda Trippel, Sara Imboden, Andrea Papadia, Michael D Mueller, Nando Mertineit, Kirsi Härmä, Alina Nicolae, Erik Vassella, Tilman T Rau
BACKGROUND: Intestinal differentiation of primary mucinous adenocarcinoma of the uterine corpus is exceedingly rare in comparison to the approximately 25% rate in endocervical and ovarian mucinous carcinoma. Additionally, little is known about the related genetic and epigenetic alterations, even though large-scale molecular characterisation of the different types of endometrial cancer took place in the TCGA project along the entities defined by the recent WHO classification. CASE PRESENTATION: We present a 62-year-old patient harbouring a primary mucinous carcinoma of the uterine corpus with a morphological resemblance to mucinous colorectal adenocarcinoma...
May 12, 2017: Diagnostic Pathology
https://www.readbyqxmd.com/read/28471861/somatic-testing-on-gynecological-cancers-improve-the-identification-of-lynch-syndrome
#14
Ileana Carnevali, Laura Libera, Annamaria Chiaravalli, Nora Sahnane, Daniela Furlan, Alessandra Viel, Giulia Cini, Laura Cimetti, Thomas Rossi, Giorgio Formenti, Fabio Ghezzi, Cristina Riva, Fausto Sessa, Maria Grazia Tibiletti
OBJECTIVE: Recent data from the literature indicate gynecological cancers (GCs) as sentinel cancers for a diagnosis of Lynch syndrome (LS). Clinical approaches to identifying LS have low sensitivity, whereas somatic tests on GCs may be a more sensitive and cost-effective strategy. METHODS: A series of 78 GCs belonging to 74 patients sent to the Genetic Counselling Service were investigated using microsatellite instability, immunohistochemical expression of mismatch repair (MMR) genes, and MLH1 promoter methylation...
September 2017: International Journal of Gynecological Cancer
https://www.readbyqxmd.com/read/28471193/-molecular-pathology-of-colorectal-cancer-microsatellite-instability-the-detection-the-relationship-to-the-pathophysiology-and-prognosis
#15
V Brychtová, R Šefr, R Hrstka, P Vídeňská, B Bencsiková, B Hanáková, L Zdražilová Dubská, R Nenutil, E Budinská
BACKGROUND: Colorectal carcinoma (CRC) is third most common cancer worldwide with very heterogenous character. In most cases, it is caused by sporadic events leading to disruption of epithelial cells of the colon. The minority evolves from germline mutations associated with hereditary cancer syndromes. Mechanisms leading to mutations of oncogenes, tumour suppressors and genes of DNA repair mechanisms include: 1. chromosomal instability, 2. microsatellite instability and 3. CpG island methylator phenotype...
2017: Klinická Onkologie: Casopis Ceské a Slovenské Onkologické Spolecnosti
https://www.readbyqxmd.com/read/28466842/comprehensive-population-wide-analysis-of-lynch-syndrome-in-iceland-reveals-founder-mutations-in-msh6-and-pms2
#16
Sigurdis Haraldsdottir, Thorunn Rafnar, Wendy L Frankel, Sylvia Einarsdottir, Asgeir Sigurdsson, Heather Hampel, Petur Snaebjornsson, Gisli Masson, Daniel Weng, Reynir Arngrimsson, Birte Kehr, Ahmet Yilmaz, Stefan Haraldsson, Patrick Sulem, Tryggvi Stefansson, Peter G Shields, Fridbjorn Sigurdsson, Tanios Bekaii-Saab, Pall H Moller, Margret Steinarsdottir, Kristin Alexiusdottir, Megan Hitchins, Colin C Pritchard, Albert de la Chapelle, Jon G Jonasson, Richard M Goldberg, Kari Stefansson
Lynch syndrome, caused by germline mutations in the mismatch repair genes, is associated with increased cancer risk. Here using a large whole-genome sequencing data bank, cancer registry and colorectal tumour bank we determine the prevalence of Lynch syndrome, associated cancer risks and pathogenicity of several variants in the Icelandic population. We use colorectal cancer samples from 1,182 patients diagnosed between 2000-2009. One-hundred and thirty-two (11.2%) tumours are mismatch repair deficient per immunohistochemistry...
May 3, 2017: Nature Communications
https://www.readbyqxmd.com/read/28454461/prognostic-value-of-mlh1-promoter-methylation-in-male-patients-with-esophageal-squamous-cell-carcinoma
#17
Dongping Wu, Xiaoying Chen, Yan Xu, Haiyong Wang, Guangmao Yu, Luping Jiang, Qingxiao Hong, Shiwei Duan
The DNA mismatch repair (MMR) gene MutL homolog 1 (MLH1) is critical for the maintenance of genomic integrity. Methylation of the MLH1 gene promoter was identified as a prognostic marker for numerous types of cancer including glioblastoma, colorectal, ovarian and gastric cancer. The present study aimed to determine whether MLH1 promoter methylation was associated with survival in male patients with esophageal squamous cell carcinoma (ESCC). Formalin-fixed, paraffin-embedded ESCC tissues were collected from 87 male patients...
April 2017: Oncology Letters
https://www.readbyqxmd.com/read/28440489/genome-wide-dna-methylation-sequencing-reveals-mir-663a-is-a-novel-epimutation-candidate-in-cimp-high-endometrial-cancer
#18
Megumi Yanokura, Kouji Banno, Masataka Adachi, Daisuke Aoki, Kuniya Abe
Aberrant DNA methylation is widely observed in many cancers. Concurrent DNA methylation of multiple genes occurs in endometrial cancer and is referred to as the CpG island methylator phenotype (CIMP). However, the features and causes of CIMP-positive endometrial cancer are not well understood. To investigate DNA methylation features characteristic to CIMP-positive endometrial cancer, we first classified samples from 25 patients with endometrial cancer based on the methylation status of three genes, i.e. MLH1, CDH1 (E-cadherin) and APC: CIMP-high (CIMP-H, 2/25, 8...
April 19, 2017: International Journal of Oncology
https://www.readbyqxmd.com/read/28344746/cpg-island-methylator-phenotype-in-adenocarcinomas-from-the-digestive-tract-methods-conclusions-and-controversies
#19
EDITORIAL
Francisco Sánchez-Vega, Valer Gotea, Yun-Ching Chen, Laura Elnitski
Over the last two decades, cancer-related alterations in DNA methylation that regulate transcription have been reported for a variety of tumors of the gastrointestinal tract. Due to its relevance for translational research, great emphasis has been placed on the analysis and molecular characterization of the CpG island methylator phenotype (CIMP), defined as widespread hypermethylation of CpG islands in clinically distinct subsets of cancer patients. Here, we present an overview of previous work in this field and also explore some open questions using cross-platform data for esophageal, gastric, and colorectal adenocarcinomas from The Cancer Genome Atlas...
March 15, 2017: World Journal of Gastrointestinal Oncology
https://www.readbyqxmd.com/read/28304185/modulation-of-transcription-factor-binding-and-epigenetic-regulation-of-the-mlh1-cpg-island-and-shore-by-polymorphism-rs1800734-in-colorectal-cancer
#20
Andrea J Savio, Bharati Bapat
The MLH1 promoter polymorphism rs1800734 is associated with MLH1 CpG island hypermethylation and expression loss in colorectal cancer (CRC). Conversely, variant rs1800734 is associated with MLH1 shore, but not island, hypomethylation in peripheral blood mononuclear cell DNA. To explore these distinct patterns, MLH1 CpG island and shore methylation was assessed in CRC cell lines stratified by rs1800734 genotype. Cell lines containing the variant A allele demonstrated MLH1 shore hypomethylation compared to wild type (GG)...
June 3, 2017: Epigenetics: Official Journal of the DNA Methylation Society
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