keyword
MENU ▼
Read by QxMD icon Read
search

Mismatch repair

keyword
https://www.readbyqxmd.com/read/29149846/the-impact-of-bone-morphology-on-the-outcome-of-the-pivot-shift-test-a-cohort-study
#1
Thomas Branch, Shaun Stinton, Adrija Sharma, Frederic Lavoie, Christian Guier, Philippe Neyret
BACKGROUND: The presence of a positive pivot shift after surgical repair of the ACL is considered an important indicator of a failed reconstruction. The ability to predict the result of a pivot shift test after an ACL reconstruction using variables that can be measured prior to surgery could provide an indication of which patients may be at-risk of a poor surgical outcome.The purpose of this study was to determine whether structural characteristics of the femur and tibia, measured using plain radiographs, were associated with the result of the pivot shift test in unilateral ACL reconstructed patients...
November 17, 2017: BMC Musculoskeletal Disorders
https://www.readbyqxmd.com/read/29146522/germline-genetic-features-of-young-individuals-with-colorectal-cancer
#2
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/29144791/is-there-a-role-for-programmed-death-ligand-1-testing-and-immunotherapy-in-colorectal-cancer-with-microsatellite-instability-part-i-colorectal-cancer-microsatellite-instability-testing-and-clinical-implications
#3
Esmeralda Celia Marginean, Barbara Melosky
CONTEXT: - Colorectal cancer (CRC) represents the third most-common cancer in developed countries and is a leading cause of cancer deaths worldwide. Two recognized pathways contribute to CRC development: a more-common chromosomal instability pathway and, in 15% of cases, a deficient mismatch repair or microsatellite instability-high (MSI-H) pathway. The MSI-H CRC can be associated with somatic or germline mutations. Microsatellite status has been recognized as a prognostic and predictive biomarker...
November 16, 2017: Archives of Pathology & Laboratory Medicine
https://www.readbyqxmd.com/read/29141004/lack-of-mitochondrial-muts-homolog-1-in-toxoplasma-gondii-disrupts-maintenance-and-fidelity-of-mitochondrial-dna-and-reveals-metabolic-plasticity
#4
Tamila Garbuz, Gustavo Arrizabalaga
The importance of maintaining the fidelity of the mitochondrial genome is underscored by the presence of various repair pathways within this organelle. Presumably, the repair of mitochondrial DNA would be of particular importance in organisms that possess only a single mitochondrion, like the human pathogens Plasmodium falciparum and Toxoplasma gondii. Understanding the machinery that maintains mitochondrial DNA in these parasites is of particular relevance, as mitochondrial function is a validated and effective target for anti-parasitic drugs...
2017: PloS One
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
#5
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/29137397/dna-mismatch-repair-protein-mlh1-is-required-for-tetravalent-chromium-intermediate-induced-dna-damage
#6
Timothy P Wakeman, Aimin Yang, Naresh S Dalal, Rebecca J Boohaker, Qinghua Zeng, Qiang Ding, Bo Xu
Hexavalent chromium (Cr[VI]) is associated with occupational lung cancer and poses a significant public health concern. When exposed to Cr[VI], cells rapidly internalize this compound and metabolize it to Cr[III]. Byproducts of Cr[VI] metabolism include unstable Cr[V] and Cr[IV] intermediates that are believed to be directly responsible for the genotoxicity and carcinogenicity caused by Cr[VI] exposure; however, the carcinogenic potential of the Cr intermediates and the mechanisms of Cr-induced carcinogenesis remain to be further defined...
October 13, 2017: Oncotarget
https://www.readbyqxmd.com/read/29136382/a-rhodium-cyanine-fluorescent-probe-detection-and-signaling-of-mismatches-in-dna
#7
Adela Nano, Adam N Boynton, Jacqueline K Barton
We report a bifunctional fluorescent probe that combines a rhodium metalloinsertor with a cyanine dye as the fluorescent reporter. The conjugate shows weak luminescence when free in solution or with well matched DNA but exhibits a significant luminescence increase in the presence of a 27-mer DNA duplex containing a central CC mismatch. DNA photocleavage experiments demonstrate that, upon photoactivation, the conjugate cleaves the DNA backbone specifically near the mismatch site on a 27-mer fragment, consistent with mismatch targeting...
November 14, 2017: Journal of the American Chemical Society
https://www.readbyqxmd.com/read/29133142/dedifferentiated-endometrial-carcinomas-with-neuroendocrine-features-a-clinicopathologic-immunohistochemical-and-molecular-genetic-study
#8
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/29132872/an-nrg-oncology-gog-study-of-molecular-classification-for-risk-prediction-in-endometrioid-endometrial-cancer
#9
Casey M Cosgrove, David L Tritchler, David E Cohn, David G Mutch, Craig M Rush, Heather A Lankes, William T Creasman, David S Miller, Nilsa C Ramirez, Melissa A Geller, Matthew A Powell, Floor J Backes, Lisa M Landrum, Cynthia Timmers, Adrian A Suarez, Richard J Zaino, Michael L Pearl, Paul A DiSilvestro, Shashikant B Lele, Paul J Goodfellow
OBJECTIVES: The purpose of this study was to assess the prognostic significance of a simplified, clinically accessible classification system for endometrioid endometrial cancers combining Lynch syndrome screening and molecular risk stratification. METHODS: Tumors from NRG/GOG GOG210 were evaluated for mismatch repair defects (MSI, MMR IHC, and MLH1 methylation), POLE mutations, and loss of heterozygosity. TP53 was evaluated in a subset of cases. Tumors were assigned to four molecular classes...
November 10, 2017: Gynecologic Oncology
https://www.readbyqxmd.com/read/29130549/concomitant-idh-wildtype-glioblastoma-and-idh1-mutant-anaplastic-astrocytoma-in-a-patient-with-constitutional-mismatch-repair-deficiency-syndrome
#10
Francesca Galuppini, Enrico Opocher, Uri Tabori, Isabella Mammi, Melissa Edwards, Britany Campbell, Jacalyn Kelly, Alessandra Viel, Michele Quaia, Francesca Rivieri, Domenico D'Avella, Antonella Arcella, Felice Giangaspero, Matteo Fassan, Marina Paola Gardiman
Constitutional mismatch repair deficiency (CMMRD) is a rare and often under-recognized tumour predisposition syndrome, presenting with both extracranial and malignant brain tumours that occur in children and/or young adults [1]. The genetic defects underlying this disease are biallelic germline mutations in one of the DNA mismatch repair (MMR) genes leading to a constitutional DNA repair defect that causes a cancer predisposition syndrome with early onset [2]. This mechanism is different from Lynch syndrome (LS) where a heterozygous germline loss-of-function mutation is observed and the patients are more prone to develop colon and genitourinary cancers as adults [1]...
November 12, 2017: Neuropathology and Applied Neurobiology
https://www.readbyqxmd.com/read/29129398/genomic-markers-in-prostate-cancer-decision-making
#11
REVIEW
Vito Cucchiara, Matthew R Cooperberg, Marc Dall'Era, Daniel W Lin, Francesco Montorsi, Jack A Schalken, Christopher P Evans
CONTEXT: Although the widespread use of prostate-specific antigen (PSA) has led to an early detection of prostate cancer (PCa) and a reduction of metastatic disease at diagnosis, PSA remains one of the most controversial biomarkers due to its limited specificity. As part of emerging efforts to improve both detection and management decision making, a number of new genomic tools have recently been developed. OBJECTIVE: This review summarizes the ability of genomic biomarkers to recognize men at high risk of developing PCa, discriminate clinically insignificant and aggressive tumors, and facilitate the selection of therapies in patients with advanced disease...
November 9, 2017: European Urology
https://www.readbyqxmd.com/read/29124495/excluding-lynch-syndrome-in-a-female-patient-with-metachronous-dna-mismatch-repair-deficient-colon-and-ovarian-cancer
#12
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/29121143/mismatch-repair-deficiency-testing-in-patients-with-colorectal-cancer-and-nonadherence-to-testing-guidelines-in-young-adults
#13
Talha Shaikh, Elizabeth A Handorf, Joshua E Meyer, Michael J Hall, Nestor F Esnaola
Importance: Mismatch repair (MMR) deficiency of DNA has been observed in up to 15% of sporadic colorectal cancers (CRCs) and is a characteristic feature of Lynch syndrome, which has a higher incidence in young adults (age, <50 years) with CRC. Mismatch repair deficiency can be due to germline mutations or epigenetic inactivation, affects prognosis and response to systemic therapy, and results in unrepaired repetitive DNA sequences, which increases the risk of multiple malignant tumors...
November 9, 2017: JAMA Oncology
https://www.readbyqxmd.com/read/29121141/status-of-testing-for-high-level-microsatellite-instability-deficient-mismatch-repair-in-colorectal-carcinoma
#14
Stanley R Hamilton
No abstract text is available yet for this article.
November 9, 2017: JAMA Oncology
https://www.readbyqxmd.com/read/29120224/is-there-a-role-for-programmed-death-ligand-1-testing-and-immunotherapy-in-colorectal-cancer-with-microsatellite-instability-part-ii-the-challenge-of-programmed-death-ligand-1-testing-and-its-role-in-microsatellite-instability-high-colorectal-cancer
#15
Esmeralda Celia Marginean, Barbara Melosky
CONTEXT: - The world of oncology has changed dramatically in the past few years with the introduction of checkpoint inhibitors and immunotherapy. The promising findings of a small, phase 2 clinical trial that led to the US Food and Drug Administration breakthrough designation and approval of the anti-programmed death receptor-1 (PD-1) drug pembrolizumab (Keytruda, Merck, Kenilworth, New Jersey) to treat metastatic/refractory microsatellite instability-high colorectal cancer (CRC) has significantly boosted interest in immunomodulatory therapies in microsatellite instability-high CRC...
November 9, 2017: Archives of Pathology & Laboratory Medicine
https://www.readbyqxmd.com/read/29118555/current-and-future-biomarkers-in-colorectal-cancer
#16
REVIEW
George Zarkavelis, Stergios Boussios, Alexandra Papadaki, Konstantinos H Katsanos, Dimitrios K Christodoulou, George Pentheroudakis
Colorectal cancer (CRC), one of the leading causes of death among cancer patients, is a heterogeneous disease and is characterized by diversions in multiple molecular pathways throughout its evolutionary process. To date, specific mutations in RAS and RAF genes are tested in everyday clinical practice along with mismatch repair gene deficiency, serving either as prognostic or predictive biomarkers, providing information for patient risk stratification and the choice of appropriate therapy. However, ongoing studies are focusing on the potential role of recently discovered genetic and epigenetic alterations in the management of CRC patients and their potential prognostic or predictive value...
2017: Annals of Gastroenterology: Quarterly Publication of the Hellenic Society of Gastroenterology
https://www.readbyqxmd.com/read/29115978/depletion-of-somatic-mutations-in-splicing-associated-sequences-in-cancer-genomes
#17
Laurence D Hurst, Nizar N Batada
BACKGROUND: An important goal of cancer genomics is to identify systematically cancer-causing mutations. A common approach is to identify sites with high ratios of non-synonymous to synonymous mutations; however, if synonymous mutations are under purifying selection, this methodology leads to identification of false-positive mutations. Here, using synonymous somatic mutations (SSMs) identified in over 4000 tumours across 15 different cancer types, we sought to test this assumption by focusing on coding regions required for splicing...
November 7, 2017: Genome Biology
https://www.readbyqxmd.com/read/29113157/lack-of-microsatellite-instability-in-gastrointestinal-stromal-tumors
#18
Nathália C Campanella, Cristovam Scapulatempo-Neto, Lucas Faria Abrahão-Machado, Antônio Talvane Torres De Oliveira, Gustavo N Berardinelli, Denise Peixoto Guimarães, Rui M Reis
The microsatellite instability (MSI) phenotype may constitute an important biomarker for patient response to immunotherapy, particularly to anti-programmed death-1 inhibitors. MSI is a type of genomic instability caused by a defect in DNA mismatch repair (MMR) proteins, which is present mainly in colorectal cancer and its hereditary form, hereditary nonpolyposis colorectal cancer. Gastrointestinal stromal tumor (GIST) development is associated with activating mutations of KIT proto-oncogene receptor tyrosine kinase (KIT) or platelet-derived growth factor receptor α (PDGFRA), which are oncogenes that predict the response to imatinib mesylate...
November 2017: Oncology Letters
https://www.readbyqxmd.com/read/29112132/autophagy-roles-in-the-modulation-of-dna-repair-pathways
#19
REVIEW
Luciana R Gomes, Carlos F M Menck, Giovana S Leandro
Autophagy and DNA repair are biological processes vital for cellular homeostasis maintenance and when dysfunctional, they lead to several human disorders including premature aging, neurodegenerative diseases, and cancer. The interchange between these pathways is complex and it may occur in both directions. Autophagy is activated in response to several DNA lesions types and it can regulate different mechanisms and molecules involved in DNA damage response (DDR), such as cell cycle checkpoints, cell death, and DNA repair...
November 7, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/29112018/tumor-budding-and-pdc-grade-are-stage-independent-predictors-of-clinical-outcome-in-mismatch-repair-deficient-colorectal-cancer
#20
Éanna Ryan, Yi Ling Khaw, Ben Creavin, Robert Geraghty, Elizabeth J Ryan, David Gibbons, Ann Hanly, Sean T Martin, P Ronan O'Connell, Desmond C Winter, Kieran Sheahan
Mismatch repair deficient (dMMR) colorectal cancer (CRC) despite its association with poor histologic grade often has improved prognosis compared with MMR proficient CRC. Tumor budding and poorly differentiated clusters (PDCs) may predict metastatic potential of colorectal adenocarcinoma (CRC). In addition, their assessment may be more reproducible than the evaluation of other histopathologic parameters. Therefore, we wished to determine their potential as prognostic indicators in a cohort of dMMR CRC patients relative to histologic grade...
November 3, 2017: American Journal of Surgical Pathology
keyword
keyword
46217
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"