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https://www.readbyqxmd.com/read/28323777/msh6-past-and-present-and-muir-torre-syndrome-connecting-the-dots
#1
Meera Mahalingam
Sebaceous neoplasms such as adenoma, sebaceoma, and carcinoma, although sporadic in their occurrence, are clinically significant because of their association with Muir-Torre syndrome (MTS). MTS is a rare autosomal dominant genodermatosis characterized by the occurrence of sebaceous neoplasms and/or keratoacanthomas and visceral malignancies. MTS is usually the result of germline mutations in the DNA mismatch repair genes MSH2 and, albeit less commonly, MLH1. Although less know, MSH6 is yet another key player...
April 2017: American Journal of Dermatopathology
https://www.readbyqxmd.com/read/28319570/microcystic-elongated-and-fragmented-pattern-invasion-in-ovarian-endometrioid-carcinoma-immunohistochemical-profile-and-prognostic-implications
#2
Allison Goldberg, Lauren Hand, Dan DeCotiis, Norman Rosenblum, Joanna Chan
Microcystic, elongated, and fragmented (MELF) pattern invasion is a poor prognostic indicator in uterine endometrioid carcinoma, but its existence, biology, and prognostic value have not been described in ovarian endometrioid carcinoma. We evaluated cases of ovarian endometrioid carcinoma without synchronous uterine endometrioid carcinoma for MELF and other histologic features. To evaluate tumor biology, we assessed an immunohistochemical profile, including MLH1, PMS2, MSH2, MSH6, β-catenin, e-cadherin, CK19, and cyclin D1...
March 17, 2017: International Journal of Gynecological Pathology
https://www.readbyqxmd.com/read/28314254/synchronous-endometrial-and-ovarian-cancer-in-young-women-case-report-and-review-of-the-literature
#3
REVIEW
Askin Dogan, Beate Schultheis, Günther A Rezniczek, Ziad Hilal, Cem Cetin, Günther Häusler, Clemens B Tempfer
BACKGROUND: Young women with endometrial cancer (EC) have an increased risk of synchronous ovarian cancer. The prognosis of women with synchronous endometrial and ovarian cancer (SEOC) is good. A high proportion of affected women have hereditary non-polyposis colon cancer syndrome (HNPCC). CASE PRESENTATION: We present the case of a 45-year-old woman with histologically proven endometrioid adenocarcinoma of the endometrium (pT1B, G2, R0 without lymphovascular space invasion)...
March 2017: Anticancer Research
https://www.readbyqxmd.com/read/28293308/mismatch-repair-proteins-and-microsatellite-instability-in-colorectal-carcinoma-mlh1-msh2-msh6-and-pms2-histopathological-and-immunohistochemical-study
#4
Nour El Hoda S Ismael, Samar A El Sheikh, Suzan M Talaat, Eman M Salem
BACKGROUND: Colorectal cancer (CRC) is one of the most common cancers worldwide. Microsatellite instability (MSI) is detected in about 15% of all colorectal cancers. CRC with MSI has particular characteristics such as improved survival rates and better prognosis. They also have a distinct sensitivity to the action of chemotherapy. AIM: The aim of the study was to detect microsatellite instability in a cohort of colorectal cancer Egyptian patients using the immunohistochemical expression of mismatch repair proteins (MLH1, MSH2, MSH6 and PMS2)...
March 15, 2017: Open Access Macedonian Journal of Medical Sciences
https://www.readbyqxmd.com/read/28278049/mismatch-repair-proteins-recruited-to-ultraviolet-light-damaged-sites-lead-to-degradation-of-licensing-factor-cdt1-in-the-g1-phase
#5
Miyuki Tanaka, Michiyo Takahara, Kohei Nukina, Akiyo Hayashi, Wataru Sakai, Kaoru Sugasawa, Yasushi Shiomi, Hideo Nishitani
Cdt1 is rapidly degraded by CRL4(Cdt2) E3 ubiquitin ligase after UV (UV) irradiation. Previous reports revealed that the nucleotide excision repair (NER) pathway is responsible for the rapid Cdt1-proteolysis. Here, we show that mismatch repair (MMR) proteins are also involved in the degradation of Cdt1 after UV irradiation in the G1 phase. First, compared with the rapid (within ∼15 min) degradation of Cdt1 in normal fibroblasts, Cdt1 remained stable for ∼30 min in NER-deficient XP-A cells, but was degraded within ∼60 min...
February 22, 2017: Cell Cycle
https://www.readbyqxmd.com/read/28265089/reconstitution-of-saccharomyces-cerevisiae-dna-polymerase-%C3%AE%C2%B5-dependent-mismatch-repair-with-purified-proteins
#6
Nikki Bowen, Richard D Kolodner
Mammalian and Saccharomyces cerevisiae mismatch repair (MMR) proteins catalyze two MMR reactions in vitro. In one, mispair binding by either the MutS homolog 2 (Msh2)-MutS homolog 6 (Msh6) or the Msh2-MutS homolog 3 (Msh3) stimulates 5' to 3' excision by exonuclease 1 (Exo1) from a single-strand break 5' to the mispair, excising the mispair. In the other, Msh2-Msh6 or Msh2-Msh3 activate the MutL homolog 1 (Mlh1)-postmeiotic segregation 1 (Pms1) endonuclease in the presence of a mispair and a nick 3' to the mispair, to make nicks 5' to the mispair, allowing Exo1 to excise the mispair...
March 6, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28258479/prevalence-and-clinicopathologic-molecular-characteristics-of-mismatch-repair-deficient-colorectal-cancer-in-the-under-50-year-old-japanese-population
#7
Okihide Suzuki, Hidetaka Eguchi, Noriyasu Chika, Takehiko Sakimoto, Keiichiro Ishibashi, Kensuke Kumamoto, Jun-Ichi Tamaru, Tetsuhiko Tachikawa, Kiwamu Akagi, Tomio Arai, Yasushi Okazaki, Hideyuki Ishida
PURPOSE: To clarify the prevalence and clinicopathologic/molecular characteristics of mismatch repair (MMR)-deficient colorectal cancer in the young Japanese population. METHODS: Immunohistochemical analyses for MMR proteins (MLH1, MSH2, MSH6, and PMS2) were performed in formalin-fixed paraffin-embedded sections prepared from the resected CRC specimens of 119 consecutive patients aged <50 years old, who underwent resection of the primary tumor at our institution between 1996 and 2015...
March 3, 2017: Surgery Today
https://www.readbyqxmd.com/read/28256262/-muir-torre-syndrome-and-turcot-syndrome
#8
C Velter, P Caussade, J-P Fricker, B Cribier
INTRODUCTION: Lynch syndrome (LS) is a syndrome that carries a genetic predisposition to certain cancers associating, either in a single individual or in a family, a visceral tumour, mainly colorectal, with a high risk of other synchronous or metachronous cancers. LS is linked with mutations in the genes coding for proteins in the DNA repair system. Phenotypic variants of SL exist, including Muir-Torre syndrome (MTS) and Turcot syndrome (TS), both of which predispose to colorectal cancer...
February 27, 2017: Annales de Dermatologie et de Vénéréologie
https://www.readbyqxmd.com/read/28248120/sebaceous-adenoma-arising-in-mature-cystic-teratoma-of-the-ovary-case-report
#9
Kristýna Němejcová, Pavel Dundr, Jana Rosmusová, Inna Tučková
We report the case of a 44-year-old female with sebaceous adenoma arising in mature cystic teratoma of the ovary. The patient had a tumor in the left ovary; 125 x 90 x 70 mm. Microscopically, the tumor consisted of structures typical of dermoid cysts. However, large areas of sebaceous proliferation were found. These areas were comprised of sebaceous nodules with features similar to a sebaceous adenoma of the skin. Immunohistochemically, the tumor showed "wild-type" expression of p53 and low proliferative activity (Ki-67 index < 5%)...
2017: Ceskoslovenská Patologie
https://www.readbyqxmd.com/read/28243320/construction-of-a-multiplex-mutation-hot-spot-pcr-panel-the-first-step-towards-colorectal-cancer-genotyping-on-the-gs-junior-platform
#10
Bálint Péterfia, Alexandra Kalmár, Árpád V Patai, István Csabai, András Bodor, Tamás Micsik, Barnabás Wichmann, Krisztina Egedi, Péter Hollósi, Ilona Kovalszky, Zsolt Tulassay, Béla Molnár
Background: To support cancer therapy, development of low cost library preparation techniques for targeted next generation sequencing (NGS) is needed. In this study we designed and tested a PCR-based library preparation panel with limited target area for sequencing the top 12 somatic mutation hot spots in colorectal cancer on the GS Junior instrument. Materials and Methods: A multiplex PCR panel was designed to amplify regions of mutation hot spots in 12 selected genes (APC, BRAF, CTNNB1, EGFR, FBXW7, KRAS, NRAS, MSH6, PIK3CA, SMAD2, SMAD4, TP53)...
2017: Journal of Cancer
https://www.readbyqxmd.com/read/28242162/molecular-screening-for-lynch-syndrome-in-young-patients-with-colorectal-adenomas
#11
Robin B Mendelsohn, Keri Herzog, Jinru Shia, Nadiyah Rahaman, Zsofia K Stadler, Moshe Shike
BACKGROUND: The frequency of mismatch repair (MMR) deficiency (dMMR) in patients < 50 years with adenomas without a known germline mutation is unknown. Our aim was to define the frequency of dMMRs in adenomas from patients aged < 50 years. PATIENTS AND METHODS: We identified all patients aged 18 to 49 years who had undergone colonoscopy at Memorial Sloan Kettering Cancer Center from 2008 to 2013 and were identified as having tubular, villous, or tubulovillous adenomas on pathology...
February 2, 2017: Clinical Colorectal Cancer
https://www.readbyqxmd.com/read/28224663/loss-of-mlh1-sensitizes-colon-cancer-cells-to-dna-pkcs-inhibitor-ku60648
#12
Inga Hinrichsen, Anne Ackermann, Tonja Düding, Annika Graband, Natalie Filmann, Guido Plotz, Stefan Zeuzem, Angela Brieger
Germline mutations of MLH1 are responsible for tumor generation in nearly 50% of patients with Lynch Syndrome, and around 15% of sporadic colorectal cancers show MLH1-deficiency due to promotor hypermethylation. Although these tumors are of lower aggressiveness the benefit for these patients from standard chemotherapy is still under discussion. Recently, it was shown that the sensitivity to the DNA-PKcs inhibitor KU60648 is linked to loss of the MMR protein MSH3. However, loss of MSH3 is rather secondary, as a consequence of MMR-deficiency, and frequently detectable in MLH1-deficient tumors...
February 22, 2017: Molecular Carcinogenesis
https://www.readbyqxmd.com/read/28214212/primary-multiple-tumor-with-affection-of-the-thyroid-gland-uterus-urinary-bladder-mammary-gland-and-other-organs
#13
А Romaniuk, M Lyndin, V Smiyanov, Vl Sikora, A Rieznik, Y Kuzenko, H Budko, Yu Moskalenko, L Karpenko, Vol Sikora, O Gladchenko
BACKGROUND: Nowadays multiple primary tumor is characterized by growth and development of two or more tumors in one patient. The total world sickness rate ranges from 1% to 37%. The presence of four or more tumors in one patient is rare case and presented as casuistry. CASE PRESENTATION: We showed a case of multiple primary tumor with metahronic lesion of the thyroid, uterus and breast, followed by synchronous benign tumors of the subcutaneous fat, urinary bladder and gallbladder were considered...
January 19, 2017: Pathology, Research and Practice
https://www.readbyqxmd.com/read/28206966/impact-of-dna-repair-gene-polymorphisms-on-the-risk-of-biochemical-recurrence-after-radiotherapy-and-overall-survival-in-prostate-cancer
#14
Chiara Zanusso, Roberto Bortolus, Eva Dreussi, Jerry Polesel, Marcella Montico, Erika Cecchin, Sara Gagno, Flavio Rizzolio, Mauro Arcicasa, Giacomo Novara, Giuseppe Toffoli
The identification of biomarkers of biochemical recurrence (BCR) in prostate cancer (PCa) patients undergoing radiotherapy (RT) represents an unanswered clinical issue. The primary aim of this study was the definition of new genetic prognostic biomarkers in DNA repair genes (DRGs), considering both BCR and overall survival (OS) as clinical end-points. The secondary aim was to explore the potential clinical impact of these genetic variants with the decision curve analysis (DCA) and the sensitivity analysis.We analyzed 22 germline polymorphisms in 14 DRGs on 542 Caucasian PCa patients treated with RT as primary therapy...
February 11, 2017: Oncotarget
https://www.readbyqxmd.com/read/28195261/immunohistochemical-evaluation-of-mismatch-repair-proteins-in-colorectal-carcinoma-the-aifeg-gipad-proposal
#15
A Remo, M Fassan, G Lanza
Microsatellite instability (MSI) is a hypermutable phenotype that usually arises from either a germline mutation in components of the mismatch repair (MMR) machinery (i.e. hMLH1, MSH2, MSH6 and PMS2) in patients with Lynch syndrome (LS) or somatic hypermethylation of the hMLH1 promoter in sporadic carcinomas. In all colorectal cancers (CRC) is possible to identify the MMR deficiency through protein expression by immunoistochemistry (IHC). Recently, the predictive role of MMR deficiency in reduced chemotherapy benefit and the introduction of universal screening for Lynch syndrome suggest to include MMR testing into routine clinical practice...
September 2016: Pathologica
https://www.readbyqxmd.com/read/28192899/comparison-of-the-mismatch-repair-system-between-primary-and-metastatic-colorectal-cancers-using-immunohistochemistry
#16
Jiyoon Jung, Youngjin Kang, Yoo Jin Lee, Eojin Kim, Bokyung Ahn, Eunjung Lee, Joo Young Kim, Jeong Hyeon Lee, Youngseok Lee, Chul Hwan Kim, Yang-Seok Chae
BACKGROUND: Colorectal cancer (CRC) is one of the most common malignancies worldwide. Approximately 10%-15% of the CRC cases have defective DNA mismatch repair (MMR) genes. Although the high level of microsatellite instability status is a predictor of favorable outcome in primary CRC, little is known about its frequency and importance in secondary CRC. Immunohistochemical staining (IHC) for MMR proteins (e.g., MLH1, MSH2, MSH6, and PMS2) has emerged as a useful technique to complement polymerase chain reaction (PCR) analyses...
March 2017: Journal of Pathology and Translational Medicine
https://www.readbyqxmd.com/read/28176205/correlation-between-germline-mutations-in-mmr-genes-and-microsatellite-instability-in-ovarian-cancer-specimens
#17
Mohammad R Akbari, Shiyu Zhang, Deborah Cragun, Ji-Hyun Lee, Domenico Coppola, John McLaughlin, Harvey A Risch, Barry Rosen, Patricia Shaw, Thomas A Sellers, Joellen Schildkraut, Steven A Narod, Tuya Pal
A high proportion of ovarian cancers from women who carry germline mutations in mismatch repair (MMR) genes demonstrate microsatellite instability (MSI). The utility of pre-screening ovarian cancer specimens for MSI to identify potential patients for germline screening for MMR mutations is uncertain. 656 women with malignant ovarian cancer underwent both MSI testing and germline mutation testing for large rearrangements in three MMR genes, MLH1, MSH2 and MSH6. Germline DNA sequencing data for the same genes was available...
February 7, 2017: Familial Cancer
https://www.readbyqxmd.com/read/28165350/sebaceous-carcinoma-treated-with-mohs-micrographic-surgery
#18
Kimberly L Brady, Eva A Hurst
BACKGROUND: Sebaceous carcinoma is a rare and potentially aggressive adnexal neoplasm with historic data indicating high rates of recurrence, metastasis, and cancer-specific mortality. OBJECTIVE: To evaluate the incidence of local recurrence, metastasis, disease-specific mortality, and all-cause mortality and to identify work-up approaches. PATIENTS AND METHODS/MATERIALS: Retrospective review of patients with sebaceous carcinoma treated with Mohs micrographic surgery between 2001 and 2013 at one institution...
February 2017: Dermatologic Surgery: Official Publication for American Society for Dermatologic Surgery [et Al.]
https://www.readbyqxmd.com/read/28157215/identification-of-a-genetically-defined-ultra-high-risk-group-in-relapsed-pediatric-t-lymphoblastic-leukemia
#19
P Richter-Pechańska, J B Kunz, J Hof, M Zimmermann, T Rausch, O R Bandapalli, E Orlova, G Scapinello, J C Sagi, M Stanulla, M Schrappe, G Cario, R Kirschner-Schwabe, C Eckert, V Benes, J O Korbel, M U Muckenthaler, A E Kulozik
In the search for genes that define critical steps of relapse in pediatric T-cell acute lymphoblastic leukemia (T-ALL) and can serve as prognostic markers, we performed targeted sequencing of 313 leukemia-related genes in 214 patients: 67 samples collected at the time of relapse and 147 at initial diagnosis. As relapse-specific genetic events, we identified activating mutations in NT5C2 (P=0.0001, Fisher's exact test), inactivation of TP53 (P=0.0007, Fisher's exact test) and duplication of chr17:q11.2-24.3 (P=0...
February 3, 2017: Blood Cancer Journal
https://www.readbyqxmd.com/read/28156002/lucap-prostate-cancer-patient-derived-xenografts-reflect-the-molecular-heterogeneity-of-advanced-disease-an-d-serve-as-models-for-evaluating-cancer-therapeutics
#20
Holly M Nguyen, Robert L Vessella, Colm Morrissey, Lisha G Brown, Ilsa M Coleman, Celestia S Higano, Elahe A Mostaghel, Xiaotun Zhang, Lawrence D True, Hung-Ming Lam, Martine Roudier, Paul H Lange, Peter S Nelson, Eva Corey
BACKGROUND: Metastatic prostate cancer is a common and lethal disease for which there are no therapies that produce cures or long-term durable remissions. Clinically relevant preclinical models are needed to increase our understanding of biology of this malignancy and to evaluate new agents that might provide effective treatment. Our objective was to establish and characterize patient-derived xenografts (PDXs) from advanced prostate cancer (PC) for investigation of biology and evaluation of new treatment modalities...
May 2017: Prostate
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