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https://www.readbyqxmd.com/read/29223032/dna-replication-and-associated-repair-pathways-are-involved-in-the-mutagenesis-of-methylated-cytosine
#1
Marketa Tomkova, Michael McClellan, Skirmantas Kriaucionis, Benjamin Schuster-Böckler
Transitions of cytosine to thymine in CpG dinucleotides are the most frequent type of mutations observed in cancer. This increased mutability is commonly explained by the presence of 5-methylcytosine (5mC) and its spontaneous hydrolytic deamination into thymine. Here, we describe observations that question whether spontaneous deamination alone causes the elevated mutagenicity of 5mC. Tumours with somatic mutations in DNA mismatch-repair genes or in the proofreading domain of DNA polymerase ε (Pol ε) exhibit more 5mC to T transitions than would be expected, given the kinetics of hydrolytic deamination...
November 24, 2017: DNA Repair
https://www.readbyqxmd.com/read/29222734/tert-promoter-hotspot-mutations-in-breast-cancer
#2
Tatsunori Shimoi, Masayuki Yoshida, Yuka Kitamura, Tomomi Yoshino, Asuka Kawachi, Akihiko Shimomura, Emi Noguchi, Mayu Yunokawa, Kan Yonemori, Chikako Shimizu, Takayuki Kinoshita, Koichi Ichimura, Takahiro Fukuda, Yasuhiro Fujiwara, Kenji Tamura
BACKGROUND: Telomerase reverse transcriptase (TERT) promoter mutations have been discovered in solid and hematological malignancies, where they reflect TERT activation and cell-cycle progression. In melanoma, glioma, and thyroid cancers, TERT promoter mutations are associated with a poor prognosis. However, no studies have evaluated the prevalence and prognostic significance of TERT promoter mutations in breast cancer. METHODS: We analyzed TERT promoter hotspot mutations (C228T and C250T) using direct sequencing of DNA from 319 tumor tissues...
December 8, 2017: Breast Cancer: the Journal of the Japanese Breast Cancer Society
https://www.readbyqxmd.com/read/29222670/venetoclax-for-treating-chronic-lymphocytic-leukaemia-an-evidence-review-group-perspective-of-a-nice-single-technology-appraisal
#3
REVIEW
Hema Mistry, Chidozie Nduka, Martin Connock, Jill Colquitt, Theodoros Mantopoulos, Emma Loveman, Renata Walewska, James Mason
Venetoclax is licensed to treat relapsed or refractory (R/R) chronic lymphocytic leukaemia (CLL). As part of the Single Technology Appraisal (STA) ID944, the National Institute for Health and Care Excellence (NICE) invited AbbVie, the manufacturer, to submit evidence on the use of venetoclax, within its licensed indication. The Evidence Review Group (ERG), Warwick Evidence, was asked to provide an independent and critical review of the submitted evidence. Evidence came from three single-arm trials in CLL patients with or without 17p deletion [del(17p])/TP53 chromosomal abnormalities...
December 8, 2017: PharmacoEconomics
https://www.readbyqxmd.com/read/29222441/robust-rna-based-in-situ-mutation-detection-delineates-colorectal-cancer-subclonal-evolution
#4
Ann-Marie Baker, Weini Huang, Xiao-Ming Mindy Wang, Marnix Jansen, Xiao-Jun Ma, Jeffrey Kim, Courtney M Anderson, Xingyong Wu, Liuliu Pan, Nan Su, Yuling Luo, Enric Domingo, Timon Heide, Andrea Sottoriva, Annabelle Lewis, Andrew D Beggs, Nicholas A Wright, Manuel Rodriguez-Justo, Emily Park, Ian Tomlinson, Trevor A Graham
Intra-tumor heterogeneity (ITH) is a major underlying cause of therapy resistance and disease recurrence, and is a read-out of tumor growth. Current genetic ITH analysis methods do not preserve spatial context and may not detect rare subclones. Here, we address these shortfalls by developing and validating BaseScope-a novel mutation-specific RNA in situ hybridization assay. We target common point mutations in the BRAF, KRAS and PIK3CA oncogenes in archival colorectal cancer samples to precisely map the spatial and morphological context of mutant subclones...
December 8, 2017: Nature Communications
https://www.readbyqxmd.com/read/29222326/acquired-ribosomopathies-in-leukemia-and-solid-tumors
#5
REVIEW
Adrianna Vlachos
A mutation in the gene encoding the small subunit-associated ribosomal protein RPS19, leading to RPS19 haploinsufficiency, is one of the ribosomal protein gene defects responsible for the rare inherited bone marrow failure syndrome Diamond Blackfan anemia (DBA). Additional inherited and acquired defects in ribosomal proteins (RPs) continue to be identified and are the basis for a new class of diseases called the ribosomopathies. Acquired RPS14 haploinsufficiency has been found to be causative of the bone marrow failure found in 5q- myelodysplastic syndromes...
December 8, 2017: Hematology—the Education Program of the American Society of Hematology
https://www.readbyqxmd.com/read/29222172/proximal-aberrant-crypt-foci-associate-with-synchronous-neoplasia-and-are-primed-for-neoplastic-progression
#6
David A Drew, Allen Mo, James J Grady, Richard G Stevens, Joel B Levine, Bruce M Brenner, Joseph C Anderson, Faripour Forouhar, Michael J O'Brien, Thomas J Devers, Daniel W Rosenberg
Aberrant crypt foci (ACF) are the earliest morphologically identifiable lesion found within the human colon. Despite their relatively high frequency in the distal colon, few studies have examined the molecular characteristics of ACF within the proximal colon. In the following study, clinical participants (n=184) were screened for ACF using high-definition chromoendoscopy with contrast dye-spray. Following pathological confirmation, ACF biopsies were subjected to laser-capture microdissection (LCM) and epithelial cells were evaluated for somatic mutations with a customized colorectal cancer mutation panel using DNA-mass spectrometry...
December 8, 2017: Molecular Cancer Research: MCR
https://www.readbyqxmd.com/read/29222170/imprecision-and-dna-break-repair-biased-towards-incompatible-end-joining-in-leukemia
#7
Franz Josef Gassner, Maria Schubert, Stefan Rebhandl, Karina Spandl, Nadja Zaborsky, Kemal Catakovic, Stephanie Blaimer, Daniel Hebenstreit, Richard Greil, Roland Geisberger
Cancer is a genetic disease caused by mutations and chromosomal abnormalities which contribute to uncontrolled cell growth. In addition, cancer cells can rapidly respond to conventional and targeted therapies by accumulating novel and often specific genetic lesions leading to acquired drug resistance and relapsing disease. In chronic lymphocytic leukemia (CLL), however, diverse chromosomal aberrations often occur. In many cases, improper repair of DNA double strand breaks (DSBs) is a major source for genomic abnormalities...
December 8, 2017: Molecular Cancer Research: MCR
https://www.readbyqxmd.com/read/29221745/upfront-surgery-as-first-line-therapy-in-selected-patients-with-stage-iiia-non-small-cell-lung-cancer
#8
Difan Zheng, Ting Ye, Hong Hu, Yawei Zhang, Yihua Sun, Jiaqing Xiang, Haiquan Chen
OBJECTIVE: Surgery plays an important role in the multidisciplinary treatment strategy for patients with stage IIIA non-small cell lung cancer (NSCLC). Besides induction therapy, patients could benefit from surgery followed by adjuvant chemotherapy and radiotherapy. This study analyzed a subset of patients with pIIIA NSCLC who underwent upfront surgery as first-line therapy. METHODS: Selected patients with pIIIA NSCLC who received upfront surgery were retrospectively analyzed...
November 3, 2017: Journal of Thoracic and Cardiovascular Surgery
https://www.readbyqxmd.com/read/29221462/ethical-frameworks-for-obtaining-informed-consent-in-tumour-profiling-an-evidence-based-case-for-singapore
#9
Yasmin Bylstra, Tamra Lysaght, Jyothi Thrivikraman, Sangeetha Watson, Patrick Tan
BACKGROUND: Genomic profiling of malignant tumours has assisted clinicians in providing targeted therapies for many serious cancer-related illnesses. Although the characterisation of somatic mutations is the primary aim of tumour profiling for treatment, germline mutations may also be detected given the heterogenous origin of mutations observed in tumours. Guidance documents address the return of germline findings that have health implications for patients and their genetic relations...
December 8, 2017: Human Genomics
https://www.readbyqxmd.com/read/29221448/next-generation-sequencing-recent-applications-to-the-analysis-of-colorectal-cancer
#10
REVIEW
Filippo Del Vecchio, Valentina Mastroiaco, Antinisca Di Marco, Chiara Compagnoni, Daria Capece, Francesca Zazzeroni, Carlo Capalbo, Edoardo Alesse, Alessandra Tessitore
Since the establishment of the Sanger sequencing method, scientists around the world focused their efforts to progress in the field to produce the utmost technology. The introduction of next-generation sequencing (NGS) represents a revolutionary step and promises to lead to massive improvements in our understanding on the role of nucleic acids functions. Cancer research began to use this innovative and highly performing method, and interesting results started to appear in colorectal cancer (CRC) analysis. Several studies produced high-quality data in terms of mutation discovery, especially about actionable or less frequently mutated genes, epigenetics, transcriptomics...
December 8, 2017: Journal of Translational Medicine
https://www.readbyqxmd.com/read/29221323/management-of-non-small-cell-lung-cancer-with-egfr-mutation-the-role-of-radiotherapy-in-the-era-of-tyrosine-kinase-inhibitor-therapy-opportunities-and-challenges
#11
REVIEW
Bing Xia, Shirong Zhang, Shenglin Ma
In recent years, the treatment of advanced non-small cell lung cancer (NSCLC) was greatly promoted by the discovery of oncogenic drivers and the development of targeted therapies specific for these drivers. Somatic mutations in epidermal growth factor receptor (EGFR) are the most common type in patients with NSCLC. Small-molecule tyrosine kinase inhibitor (TKI) targeting EGFR produced relatively high response rate and long duration with acceptable toxicity profile. Also, the life expectancy in patients with active EGFR mutation has been significantly prolonged than the past...
September 2017: Journal of Thoracic Disease
https://www.readbyqxmd.com/read/29221264/continuation-of-gefitinib-plus-chemotherapy-prolongs-progression-free-survival-in-advanced-non-small-cell-lung-cancer-patients-who-get-acquired-resistance-to-gefitinib-without-t790m-mutations
#12
Ting Ding, Fei Zhou, Xiaoxia Chen, Shijia Zhang, Yinan Liu, Hui Sun, Shengxiang Ren, Xuefei Li, Chao Zhao, Heyong Wang, Caicun Zhou
Background: Aimed to identify the benefit population from continuation of epidermal growth factor receptor-tyrosine kinase inhibitors (EGFR-TKIs), this study investigated the efficacy of continuation of EGFR-TKIs plus chemotherapy beyond the response evaluation criteria in solid tumors-progressive disease (RECIST-PD) according to different progression modes and T790M mutational status. Methods: From November 2009 to July 2015, 630 patients with advanced non-small cell lung cancer (NSCLC) receiving gefitinib as initial EGFR-TKI treatment were screened in Shanghai Pulmonary Hospital...
September 2017: Journal of Thoracic Disease
https://www.readbyqxmd.com/read/29221236/checkpoint-inhibitors-in-metastatic-epidermal-growth-factor-receptor-mutated-non-small-cell-lung-cancer-patients-where-we-treating-the-wrong-cancer
#13
EDITORIAL
Paul Zarogoulidis, Vasilis Papadopoulos, Elena Maragouli, George Papatsibas, Haidong Huang
No abstract text is available yet for this article.
September 2017: Journal of Thoracic Disease
https://www.readbyqxmd.com/read/29221194/altered-microrna-profiles-during-early-colon-adenoma-progression-in-a-porcine-model-of-familial-adenomatous-polyposis
#14
Monika Stachowiak, Tatiana Flisikowska, Stefan Bauersachs, Carolin Perleberg, Hubert Pausch, Marek Switonski, Alexander Kind, Dieter Saur, Angelika Schnieke, Krzysztof Flisikowski
MicroRNAs are dysregulated in various cancers including colorectal cancer, and are potential useful biomarkers of disease development. We used next generation sequencing to investigate miRNA expression profiles in low- and high-grade intraepithelial dysplastic polyps from pigs carrying a mutation in the adenomatous polyposis coli tumour suppressor (APC1311 , orthologous to human APC1309 ) that model an inherited predisposition to colorectal cancer, familial adenomatous polyposis. We identified several miRNAs and their isomiRs significantly (P < 0...
November 10, 2017: Oncotarget
https://www.readbyqxmd.com/read/29221192/tumor-suppressive-function-of-unc5d-in-papillary-thyroid-cancer
#15
Man-Man Zhang, Feng Sun, Bing Cui, Le-Le Zhang, Ya Fang, Yan Li, Rui-Jia Zhang, Xiao-Ping Ye, Yu-Ru Ma, Bing Han, Huai-Dong Song
Background: Studies have shown an association of the UNC5D gene with kidney and bladder cancer and neuroblastoma. We investigated whether UNC5D acts as a tumor suppressor in papillary thyroid carcinoma (PTC). Methods: Primary PTC tumors and matched normal thyroid tissues were obtained from 112 patients to detect UNC5D mRNA by real-time PCR. Genomic DNA sequencing was performed to detect BRAF mutation in PTC tumors. The association between UNC5D expression and clinicopathological data from PTC patients was reviewed retrospectively...
November 10, 2017: Oncotarget
https://www.readbyqxmd.com/read/29221189/novel-direct-ampk-activator-suppresses-non-small-cell-lung-cancer-through-inhibition-of-lipid-metabolism
#16
Xi Chen, Chun Xie, Xing-Xing Fan, Ze-Bo Jiang, Vincent Kam-Wai Wong, Jia-Hui Xu, Xiao-Jun Yao, Liang Liu, Elaine Lai-Han Leung
Drug resistance is becoming an obstacle in anti-cancer therapies. For target-based therapy of lung cancer, gefitinib, as the first generation of tyrosine kinase inhibitors (TKIs), demonstrated good initial response to the non-small cell lung cancer (NSCLC) patients whom harbors epidermal growth factor receptor (EGFR) mutation. However, within one year, additional EGFR mutation occurred, leading to eventual gefitinib-resistance. Therefore, it is urgently to discover novel effective small molecule inhibitors for those patients...
November 10, 2017: Oncotarget
https://www.readbyqxmd.com/read/29221171/proteogenomic-analysis-prioritises-functional-single-nucleotide-variants-in-cancer-samples
#17
Shiyong Ma, Ranjeeta Menon, Rebecca C Poulos, Jason W H Wong
Massively parallel DNA sequencing enables the detection of thousands of germline and somatic single nucleotide variants (SNVs) in cancer samples. The functional analysis of these mutations is often carried out through in silico predictions, with further downstream experimental validation rarely performed. Here, we examine the potential of using mass spectrometry-based proteomics data to further annotate the function of SNVs in cancer samples. RNA-seq and whole genome sequencing (WGS) data from Jurkat cells were used to construct a custom database of single amino acid variant (SAAV) containing peptides and identified over 1,000 such peptides in two Jurkat proteomics datasets...
November 10, 2017: Oncotarget
https://www.readbyqxmd.com/read/29221169/targeting-pp2a-activates-ampk-signaling-to-inhibit-colorectal-cancer-cells
#18
Cuiping Dai, Xuning Zhang, Da Xie, Peipei Tang, Chunmei Li, Yi Zuo, Baofei Jiang, Caiping Xue
LB-100 is a novel PP2A inhibitor. Its activity in human colorectal cancer (CRC) cells was tested. The in vitro studies demonstrated that LB-100 inhibited survival and proliferation of both established CRC cells (HCT-116 and HT-29 lines) and primary human colon cancer cells. Further, LB-100 activated apoptosis and induced G1-S cell cycle arrest in CRC cells. LB-100 inhibited PP2A activity and activated AMPK signaling in CRC cells. AMPKα1 dominant negative mutation, shRNA-mediated knockdown or complete knockout (by CRISPR/Cas9 method) largely attenuated LB-100-induced AMPK activation and HCT-116 cytotoxicity...
November 10, 2017: Oncotarget
https://www.readbyqxmd.com/read/29220298/gastrointestinal-stromal-tumors
#19
Margaret von Mehren, Heikki Joensuu
GI stromal tumors (GISTs) are neoplasms with a varying malignancy potential ranging from virtually indolent tumors to rapidly progressing cancers. GISTs occur throughout the intestinal tract, and most harbor an activating mutation in either KIT or platelet-derived growth factor A ( PDGFRA). Diagnosis is made using immunohistochemistry, but molecular testing with mutation analysis is paramount for selection of appropriate therapy. Most small GISTs are cured with surgery. Tyrosine kinase inhibitor (TKI) therapy has led to substantial improvements in survival, both for patients with localized GIST and those with advanced disease...
December 8, 2017: Journal of Clinical Oncology: Official Journal of the American Society of Clinical Oncology
https://www.readbyqxmd.com/read/29220293/pathologic-angiogenesis-of-malignant-vascular-sarcomas-implications-for-treatment
#20
Jalal A Khan, Robert G Maki, Vinod Ravi
Angiosarcoma, epithelioid hemangioendothelioma, and Kaposi sarcoma are classified according to the line of differentiation that these neoplastic cells most closely resemble: the endothelial cell. Although these malignant vascular sarcomas demonstrate immunohistochemical and ultrastructural features typical of this lineage, they vary dramatically in presentation and behavior, reflecting oncologic mechanisms unique to each. Antineoplastic therapies offer significant benefit, but because of the rarity of these cancers, novel therapies are slow to develop, and treatment options for these cancers remain limited...
December 8, 2017: Journal of Clinical Oncology: Official Journal of the American Society of Clinical Oncology
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