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Mutation analysis biomarkers cancer

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https://www.readbyqxmd.com/read/29334603/multicenter-phase-ii-study-of-oxaliplatin-irinotecan-and-s-1-as-first-line-treatment-for-patients-with-recurrent-or-metastatic-biliary-tract-cancer
#1
Changhoon Yoo, Boram Han, Hyeong Su Kim, Kyu-Pyo Kim, Deokhoon Kim, Jae Ho Jeong, Jae-Lyun Lee, Tae Won Kim, Jung Han Kim, Dae Ro Choi, Hong Il Ha, Jinwon Seo, Heung-Moon Chang, Baek-Yeol Ryoo, Dae Young Zang
Purpose: Although gemcitabine plus cisplatin has been established as the standard first-line chemotherapy for patients with advanced biliary tract cancer (BTC), overall prognosis remains poor. We investigated the efficacy of a novel triplet combination of oxaliplatin, irinotecan, and S-1 (OIS) for advanced BTC. Materials and Methods: Chemotherapy-naive patients with histologically documented unresectable or metastatic BTC were eligible for this multicenter, single-arm phase II study...
January 8, 2018: Cancer Research and Treatment: Official Journal of Korean Cancer Association
https://www.readbyqxmd.com/read/29333087/antioxydation-and-cell-migration-genes-are-identified-as-potential-therapeutic-targets-in-basal-like-and-brca1-mutated-breast-cancer-cell-lines
#2
Maud Privat, Justine Rudewicz, Nicolas Sonnier, Christelle Tamisier, Flora Ponelle-Chachuat, Yves-Jean Bignon
Basal-like breast cancers are among the most aggressive cancers and effective targeted therapies are still missing. In order to identify new therapeutic targets, we performed Methyl-Seq and RNA-Seq of 10 breast cancer cell lines with different phenotypes. We confirmed that breast cancer subtypes cluster the RNA-Seq data but not the Methyl-Seq data. Basal-like tumor hypermethylated phenotype was not confirmed in our study but RNA-Seq analysis allowed to identify 77 genes significantly overexpressed in basal-like breast cancer cell lines...
2018: International Journal of Medical Sciences
https://www.readbyqxmd.com/read/29322935/classifying-cancer-genome-aberrations-by-their-mutually-exclusive-effects-on-transcription
#3
Jonathan B Dayton, Stephen R Piccolo
BACKGROUND: Malignant tumors are typically caused by a conglomeration of genomic aberrations-including point mutations, small insertions, small deletions, and large copy-number variations. In some cases, specific chemotherapies and targeted drug treatments are effective against tumors that harbor certain genomic aberrations. However, predictive aberrations (biomarkers) have not been identified for many tumor types and treatments. One way to address this problem is to examine the downstream, transcriptional effects of genomic aberrations and to identify characteristic patterns...
December 21, 2017: BMC Medical Genomics
https://www.readbyqxmd.com/read/29322354/mutations-of-key-driver-genes-in-colorectal-cancer-progression-and-metastasis
#4
REVIEW
Dongdong Huang, Wenjie Sun, Yuwei Zhou, Peiwei Li, Fang Chen, Hanwen Chen, Dajing Xia, Enping Xu, Maode Lai, Yihua Wu, Honghe Zhang
The association between mutations of key driver genes and colorectal cancer (CRC) metastasis has been investigated by many studies. However, the results of these studies have been contradictory. Here, we perform a comprehensive analysis to screen key driver genes from the TCGA database and validate the roles of these mutations in CRC metastasis. Using bioinformatics analysis, we identified six key driver genes, namely APC, KRAS, BRAF, PIK3CA, SMAD4 and p53. Through a systematic search, 120 articles published by November 30, 2017, were included, which all showed roles for these gene mutations in CRC metastasis...
January 10, 2018: Cancer Metastasis Reviews
https://www.readbyqxmd.com/read/29307001/three-dimensional-cellular-arrangement-in-epithelial-ovarian-cancer-cell-lines-tov-21g-and-skov-3-is-associated-with-apoptosis-related-mirna-expression-modulation
#5
Aline Brito de Lima, Luciana Maria Silva, Nikole Gontijo Gonçales, Maria Raquel Santos Carvalho, Agnaldo Lopes da Silva Filho, Letícia da Conceição Braga
Epithelial ovarian cancer (EOC) is the most lethal gynecological malignancy, and the lack of chemoresistance biomarkers contributes to the poor prognosis. Cancer stem cells (CSC) have been investigated in EOC to understand its relationship with chemoresistance and recurrence. In this context, in vitro cultivation-models are important tools for CSC studies. MicroRNAs (miRNAs) play key roles in cancer, CSC regulation and apoptosis. Thus, this study aims to evaluate the tumorsphere model as CSC-enrichment method in EOC studies and investigate apoptosis-related miRNAs in tumorspheres-derived EOC cell lines...
January 6, 2018: Cancer Microenvironment: Official Journal of the International Cancer Microenvironment Society
https://www.readbyqxmd.com/read/29306013/rad18-promotes-the-migration-and-invasion-of-esophageal-squamous-cell-cancer-via-the-jnk-mmps-pathway
#6
Shitao Zou, Jianlong Yang, Jiaming Guo, Ye Su, Chao He, Jinchang Wu, Lan Yu, Wei-Qun Ding, Jundong Zhou
As a key regulator of DNA translesion synthesis (TLS) pathway, RAD18 is error-prone and contributes to the accumulation of DNA mutations. We have recently shown that RAD18 is overexpressed in human esophageal squamous cell cancer (ESCC) and acts to promote ESCC progression. The current study aims to understand the molecular mechanism by which RAD18 enhances the invasiveness and metastasis of ESCC cells. We found that RAD18 expression is markedly higher in high T stage ESCCs compared to low T stage groups. Kaplan-Meier analysis showed an inverse correlation between RAD18 expression and patient prognosis...
January 3, 2018: Cancer Letters
https://www.readbyqxmd.com/read/29301782/diffusion-weighted-imaging-of-brain-metastasis-from-lung-cancer-correlation-of-mri-parameters-with-the-histologic-type-and-gene-mutation-status
#7
W S Jung, C H Park, C-K Hong, S H Suh, S J Ahn
BACKGROUND AND PURPOSE: Development of noninvasive imaging biomarkers indicating the histology and the gene mutation status of brain metastasis from lung cancer is important. We aimed to investigate diffusion-weighted imaging parameters as predictors of the histology and gene mutations of brain metastasis from lung cancer. MATERIALS AND METHODS: DWI data for 74 patients with brain metastasis from lung cancer were retrospectively reviewed. The patients were first grouped according to the primary tumor histology (adenocarcinoma, small-cell lung cancer, squamous cell carcinoma), and those with adenocarcinoma were further divided into epidermal growth factor receptor (EFGR) mutation-positive and wild type groups...
January 4, 2018: AJNR. American Journal of Neuroradiology
https://www.readbyqxmd.com/read/29301749/in-situ-detection-and-quantification-of-ar-v7-ar-fl-psa-and-kras-point-mutations-in-circulating-tumor-cells
#8
Amin El-Heliebi, Claudia Hille, Navya Laxman, Jessica Svedlund, Christoph Haudum, Erkan Ercan, Thomas Kroneis, Shukun Chen, Maria Smolle, Christopher Rossmann, Tomasz Krzywkowski, Annika Ahlford, Evangelia Darai, Gunhild von Amsberg, Winfried Alsdorf, Frank König, Matthias Löhr, Inge de Kruijff, Sabine Riethdorf, Tobias M Gorges, Klaus Pantel, Thomas Bauernhofer, Mats Nilsson, Peter Sedlmayr
BACKGROUND: Liquid biopsies can be used in castration-resistant prostate cancer (CRPC) to detect androgen receptor splice variant 7 (AR-V7), a splicing product of the androgen receptor. Patients with AR-V7-positive circulating tumor cells (CTCs) have greater benefit of taxane chemotherapy compared with novel hormonal therapies, indicating a treatment-selection biomarker. Likewise, in those with pancreatic cancer (PaCa), KRAS mutations act as prognostic biomarkers. Thus, there is an urgent need for technology investigating the expression and mutation status of CTCs...
January 4, 2018: Clinical Chemistry
https://www.readbyqxmd.com/read/29297280/mutation-status-coupled-with-rna-sequencing-data-can-efficiently-identify-important-non-significantly-mutated-genes-serving-as-diagnostic-biomarkers-of-endometrial-cancer
#9
Keqin Liu, Li He, Zhichao Liu, Junmei Xu, Yuan Liu, Qifan Kuang, Zhining Wen, Menglong Li
BACKGROUND: Endometrial cancers (ECs) are one of the most common types of malignant tumor in females. Substantial efforts had been made to identify significantly mutated genes (SMGs) in ECs and use them as biomarkers for the classification of histological subtypes and the prediction of clinical outcomes. However, the impact of non-significantly mutated genes (non-SMGs), which may also play important roles in the prognosis of EC patients, has not been extensively studied. Therefore, it is essential for the discovery of biomarkers in ECs to further investigate the non-SMGs that were highly associated with clinical outcomes...
December 28, 2017: BMC Bioinformatics
https://www.readbyqxmd.com/read/29290823/magnetic-nanowire-networks-for-dual-isolation-and-detection-of-tumor-associated-circulating-biomarkers
#10
HyungJae Lee, Mihye Choi, Jiyun Lim, Minkyung Jo, Ji-Youn Han, Tae Min Kim, Youngnam Cho
Purpose: Recent developments in genomic and molecular methods have revolutionized the range of utilities of tumor-associated circulating biomarkers in both basic and clinical research. Herein, we present a novel approach for ultrasensitive extraction of cfDNA and CTCs, at high yield and purity, via the formation of magnetic nanowire networks. Materials and Methods: We fabricated and characterized biotinylated cationic polyethylenimine and biotinylated antibody cocktail-conjugated magnetic polypyrrole NWs (PEI/mPpy NW and Ab cocktail/mPpy NW, respectively)...
2018: Theranostics
https://www.readbyqxmd.com/read/29287594/comprehensive-molecular-biomarker-identification-in-breast-cancer-brain-metastases
#11
Hans-Juergen Schulten, Mohammed Bangash, Sajjad Karim, Ashraf Dallol, Deema Hussein, Adnan Merdad, Fatma K Al-Thoubaity, Jaudah Al-Maghrabi, Awatif Jamal, Fahad Al-Ghamdi, Hani Choudhry, Saleh S Baeesa, Adeel G Chaudhary, Mohammed H Al-Qahtani
BACKGROUND: Breast cancer brain metastases (BCBM) develop in about 20-30% of breast cancer (BC) patients. BCBM are associated with dismal prognosis not at least due to lack of valuable molecular therapeutic targets. The aim of the study was to identify new molecular biomarkers and targets in BCBM by using complementary state-of-the-art techniques. METHODS: We compared array expression profiles of three BCBM with 16 non-brain metastatic BC and 16 primary brain tumors (prBT) using a false discovery rate (FDR) p < 0...
December 29, 2017: Journal of Translational Medicine
https://www.readbyqxmd.com/read/29282264/comparing-the-diagnostic-accuracy-of-five-common-tumour-biomarkers-and-ca19-9-for-pancreatic-cancer-a-protocol-for-a-network-meta-analysis-of-diagnostic-test-accuracy
#12
Long Ge, Bei Pan, Fujian Song, Jichun Ma, Dena Zeraatkar, Jianguo Zhou, Jinhui Tian
INTRODUCTION: Surgical resection is the only curative treatment for patients with resectable pancreatic cancer. Unfortunately, 80%-85% of patients present with locally advanced or metastatic unresectable pancreatic cancer at the time of diagnosis. Detection of pancreatic cancer at early stages remains a great challenge due to lack of accurate detection tests. Recommendations in existing clinical practice guidelines on early diagnosis of pancreatic cancer are inconsistent and based on limited evidence...
December 26, 2017: BMJ Open
https://www.readbyqxmd.com/read/29261439/targeting-androgen-receptor-and-dna-repair-in-metastatic-castration-resistant-prostate-cancer-results-from-nci-9012
#13
Maha Hussain, Stephanie Daignault-Newton, Przemyslaw W Twardowski, Costantine Albany, Mark N Stein, Lakshmi P Kunju, Javed Siddiqui, Yi-Mi Wu, Dan Robinson, Robert J Lonigro, Xuhong Cao, Scott A Tomlins, Rohit Mehra, Kathleen A Cooney, Bruce Montgomery, Emmanuel S Antonarakis, Daniel H Shevrin, Paul G Corn, Young E Whang, David C Smith, Megan V Caram, Karen E Knudsen, Walter M Stadler, Felix Y Feng, Arul M Chinnaiyan
Purpose To determine whether cotargeting poly (ADP-ribose) polymerase-1 plus androgen receptor is superior to androgen receptor inhibition in metastatic castration-resistant prostate cancer (mCRPC) and whether ETS fusions predict response. Patients and Methods Patients underwent metastatic site biopsy and were stratified by ETS status and randomly assigned to abiraterone plus prednisone without (arm A) or with veliparib (arm B). Primary objectives were: confirmed prostate-specific antigen (PSA) response rate (RR) and whether ETS fusions predicted response...
December 20, 2017: Journal of Clinical Oncology: Official Journal of the American Society of Clinical Oncology
https://www.readbyqxmd.com/read/29259228/metabolomics-reveals-novel-blood-plasma-biomarkers-associated-to-the-brca1-mutated-phenotype-of-human-breast-cancer
#14
Bàrbara Roig, Marta Rodríguez-Balada, Sara Samino, Eric W-F Lam, Sandra Guaita-Esteruelas, Ana R Gomes, Xavier Correig, Joan Borràs, Oscar Yanes, Josep Gumà
Hereditary breast and ovarian cancer syndrome (HBOC) is partly due to the presence of mutations in the BRCA genes. Triple-negative (TN) breast cancer (BC) shares histological characteristics with germline BRCA1 mutation-associated tumours. We have investigated the metabolic profiles of human breast cancer (BC) cell lines carrying BRCA1 pathogenic mutations by non-targeted liquid chromatography coupled to mass spectrometry technology. Based on our in vitro results, we performed a targeted metabolomic analysis of plasma samples from TN HBOC patients taking into account their BRCA1 genotype...
December 19, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29248319/phase-2-trial-of-gemcitabine-cisplatin-plus-ipilimumab-in-patients-with-metastatic-urothelial-cancer-and-impact-of-dna-damage-response-gene-mutations-on-outcomes
#15
Matthew D Galsky, Huan Wang, Noah M Hahn, Przemyslaw Twardowski, Sumanta K Pal, Costantine Albany, Mark T Fleming, Alexander Starodub, Ralph J Hauke, Menggang Yu, Qianqian Zhao, Guru Sonpavde, Michael J Donovan, Vaibhav G Patel, John P Sfakianos, Josep Domingo-Domenech, William K Oh, Nicholas Akers, Bojan Losic, Sacha Gnjatic, Eric E Schadt, Rong Chen, Seunghee Kim-Schulze, Nina Bhardwaj, Andrew V Uzilov
BACKGROUND: Chemotherapy may exert immunomodulatory effects, thereby combining favorably with the immune checkpoint blockade. The pharmacodynamic effects of such combinations, and potential predictive biomarkers, remain unexplored. OBJECTIVE: To determine the safety, efficacy, and immunomodulatory effects of gemcitabine and cisplatin (GC) plus ipilimumab and explore the impact of somatic DNA damage response gene alterations on antitumor activity. DESIGN, SETTING, AND PARTICIPANTS: Multicenter single arm phase 2 study enrolling 36 chemotherapy-naïve patients with metastatic urothelial cancer...
December 13, 2017: European Urology
https://www.readbyqxmd.com/read/29244844/diagnostic-markers-for-the-detection-of-ovarian-cancer-in-brca1-mutation-carriers
#16
Daphne Gschwantler-Kaulich, Sigrid Weingartshofer, Christine Rappaport-Fürhauser, Robert Zeilinger, Dietmar Pils, Daniela Muhr, Elena I Braicu, Marie-Therese Kastner, Yen Y Tan, Lorenz Semmler, Jalid Sehouli, Christian F Singer
BACKGROUND: Screening for ovarian cancer (OC) in women at high risk consists of a combination of carbohydrate antigen 125 (CA125) and transvaginal ultrasound, despite their low sensitivity and specificity. This could be improved by the combination of several biomarkers, which has been shown in average risk patients but has not been investigated until now in female BRCA mutation carriers. METHODS: Using a multiplex, bead-based, immunoassay system, we analyzed the concentrations of leptin, prolactin, osteopontin, insulin-like growth factor II, macrophage inhibitory factor, CA125 and human epididymis antigen 4 in 26 healthy wild type women, 26 healthy BRCA1 mutation carriers, 28 wildtype OC patients and 26 OC patients with BRCA1 mutation...
2017: PloS One
https://www.readbyqxmd.com/read/29239031/molecular-alterations-of-neuroendocrine-tumours-of-the-lung
#17
REVIEW
Giulio Rossi, Luca Bertero, Caterina Marchiò, Mauro Papotti
Neuroendocrine tumours of the lung comprise low [typical carcinoid (TC)], intermediate [atypical carcinoid (AC)] and high-grade [small-cell lung cancer (SCLC) and large-cell neuroendocrine carcinoma (LCNEC)] malignancies, while a pre-invasive lesion [diffuse idiopathic pulmonary neuroendocrine cell hyperplasia (DIPNECH)] may generate a subset of peripheral carcinoid tumours. These neoplasms are differentiated conventionally based on mitotic rate, presence of necrosis and cytological details, according to the 2015 World Health Organisation (WHO) classification...
January 2018: Histopathology
https://www.readbyqxmd.com/read/29228611/proteogenomic-characterization-and-integrative-analysis-of-glioblastoma-multiforme
#18
Ying-Chun Song, Gai-Xia Lu, Hong-Wei Zhang, Xiao-Ming Zhong, Xian-Ling Cong, Shao-Bo Xue, Rui Kong, Dan Li, Zheng-Yan Chang, Xiao-Feng Wang, Yun-Jie Zhang, Ran Sun, Li Chai, Ru-Ting Xie, Ming-Xiang Cai, Ming Sun, Wei-Qing Mao, Hui-Qiong Yang, Yun-Chao Shao, Su-Yun Fan, Ting-Miao Wu, Qing Xia, Zhong-Wei Lv, David A Fu, Yu-Shui Ma
Glioblastoma multiforme (GBM), the most aggressive and lethal primary brain tumor, is characterized by very low life expectancy. Understanding the genomic and proteogenomic characteristics of GBM is essential for devising better therapeutic approaches.Here, we performed proteomic profiling of 8 GBM and paired normal brain tissues. In parallel, comprehensive integrative genomic analysis of GBM was performed in silico using mRNA microarray and sequencing data. Two whole transcript expression profiling cohorts were used - a set of 3 normal brain tissues and 22 glioma tissue samples and a cohort of 5 normal brain tissues and 49 glioma tissue samples...
November 14, 2017: Oncotarget
https://www.readbyqxmd.com/read/29227286/drug-perturbation-based-stratification-of-blood-cancer
#19
Sascha Dietrich, Małgorzata Oleś, Junyan Lu, Leopold Sellner, Simon Anders, Britta Velten, Bian Wu, Jennifer Hüllein, Michelle da Silva Liberio, Tatjana Walther, Lena Wagner, Sophie Rabe, Sonja Ghidelli-Disse, Marcus Bantscheff, Andrzej K Oleś, Mikołaj Słabicki, Andreas Mock, Christopher C Oakes, Shihui Wang, Sina Oppermann, Marina Lukas, Vladislav Kim, Martin Sill, Axel Benner, Anna Jauch, Lesley Ann Sutton, Emma Young, Richard Rosenquist, Xiyang Liu, Alexander Jethwa, Kwang Seok Lee, Joe Lewis, Kerstin Putzker, Christoph Lutz, Davide Rossi, Andriy Mokhir, Thomas Oellerich, Katja Zirlik, Marco Herling, Florence Nguyen-Khac, Christoph Plass, Emma Andersson, Satu Mustjoki, Christof von Kalle, Anthony D Ho, Manfred Hensel, Jan Dürig, Ingo Ringshausen, Marc Zapatka, Wolfgang Huber, Thorsten Zenz
As new generations of targeted therapies emerge and tumor genome sequencing discovers increasingly comprehensive mutation repertoires, the functional relationships of mutations to tumor phenotypes remain largely unknown. Here, we measured ex vivo sensitivity of 246 blood cancers to 63 drugs alongside genome, transcriptome, and DNA methylome analysis to understand determinants of drug response. We assembled a primary blood cancer cell encyclopedia data set that revealed disease-specific sensitivities for each cancer...
December 11, 2017: Journal of Clinical Investigation
https://www.readbyqxmd.com/read/29224828/cell-free-nucleic-acids-in-body-fluids-as-biomarkers-for-the-prediction-and-early-detection-of-recurrent-head-and-neck-cancer-a-systematic-review-of-the-literature
#20
REVIEW
Joost H van Ginkel, Fons J B Slieker, Remco de Bree, Robert J J van Es, Ellen M Van Cann, Stefan M Willems
Liquid biopsy is a minimally invasive detection method for molecular biomarkers in body fluids which may serve as a novel tool in management of head and neck cancer. The purpose of this systematic review is to outline the current status of liquid biopsy in head and neck squamous cell carcinoma (HNSCC) patients by systematically identifying and qualifying all published studies on the diagnostic or prognostic value of cell-free nucleic acids detection for posttreatment disease monitoring and/or disease outcome...
December 2017: Oral Oncology
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