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https://www.readbyqxmd.com/read/29031505/-histological-and-molecular-classification-of-endometrial-carcinoma-and-therapeutical-implications
#1
REVIEW
Catherine Genestie, Alexandra Leary, Mojgan Devassoux-Shisheboran, Aurélie Auguste
Endometrial cancer is the fourth cause of cancer in women in France and is the second most common cancer of the gynecologic cancer after breast cancer with 7275 new cases in 2012. The incidence of this neoplasm tends to increase with population aging, diabetes and obesity's augmentation. In rare cases, a hereditary factor has been described: Lynch's syndrome. The therapeutic management of the patient depends on the endometrial biopsy which specifies the histological type and the histo-prognostic grade as well as the MRI which allow the tumor staging...
October 11, 2017: Bulletin du Cancer
https://www.readbyqxmd.com/read/29029550/b-lymphoblastic-leukemia-lymphoma-new-insights-into-genetics-molecular-aberrations-subclassification-and-targeted-therapy
#2
REVIEW
Xiaohui Zhang, Prerna Rastogi, Bijal Shah, Ling Zhang
B lymphoblastic leukemia/lymphoma (B-ALL) is a clonal hematopoietic stem cell neoplasm derived from B-cell progenitors, which mostly occurs in children and adolescents and is regarded as one of top leading causes of death related to malignancies in this population. Despite the majority of patients with B-ALL have fairly good response to conventional chemotherapeutic interventions followed by hematopoietic stem cell transplant for the last decades, a subpopulation of patients show chemo-resistance and a high relapse rate...
September 12, 2017: Oncotarget
https://www.readbyqxmd.com/read/29029407/molecular-profiling-of-colorectal-pulmonary-metastases-and-primary-tumours-implications-for-targeted-treatment
#3
Sing Y Moorcraft, Thomas Jones, Brian A Walker, George Ladas, Eleftheria Kalaitzaki, Lina Yuan, Ruwaida Begum, Zakaria Eltahir, Andrew Wotherspoon, Angeles Montero-Fernandez, Larissa S Teixeira Mendes, David Gonzalez de Castro, Sanna Hulkki Wilson, Paula Proszek, Ye M To, Eliza Hawkes, Amitesh Roy, David Cunningham, Sheela Rao, David Watkins, Naureen Starling, Anne M Bowcock, Ian Chau
This study aimed to molecularly characterise colorectal pulmonary metastases (PM) and investigate whether their molecular profiles were concordant with those of the primary tumour. Clinical data and archival formalin fixed paraffin embedded tissue samples were retrospectively collected from patients who underwent ≥ 1 pulmonary metastasectomies for colorectal cancer between 1997-2012. Primary tumour and metastatic samples were analysed using a targeted capture sequencing panel of 46 cancer-associated genes...
September 12, 2017: Oncotarget
https://www.readbyqxmd.com/read/29027701/cellular-and-molecular-characterization-of-idh1-mutated-diffuse-low-grade-gliomas-reveals-tumor-heterogeneity-and-absence-of-egfr-pdgfr%C3%AE-activation
#4
S Azar, N Leventoux, C Ripoll, V Rigau, C Gozé, F Lorcy, L Bauchet, H Duffau, P O Guichet, B Rothhut, J P Hugnot
Diffuse low grade gliomas (DLGG, grade II gliomas) are slowly-growing brain tumors that often progress into high grade gliomas. Most tumors have a missense mutation for IDH1 combined with 1p19q codeletion in oligodendrogliomas or ATRX/TP53 mutations in astrocytomas. The phenotype of tumoral cells, their environment and the pathways activated in these tumors are still ill-defined and are mainly based on genomics and transcriptomics analysis. Here we used freshly-resected tumors to accurately characterize the tumoral cell population and their environment...
October 13, 2017: Glia
https://www.readbyqxmd.com/read/29026176/primary-astrocytic-tumours-and-paired-recurrences-have-similar-biological-features-in-idh1-tp53-and-tertp-mutation-and-mgmt-atrx-loss
#5
Xia Li, Jie Wei, Yixiong Liu, Peifeng Li, Linni Fan, Yingmei Wang, Mingyang Li, Danhui Zhao, Zhou Yu, Jing Ye, Ying Guo, Qingguo Yan, Shuangping Guo, Zhe Wang
Astrocytic tumours are the most common type of primary malignant brain tumour. Most astrocytic tumours will recur at some point after surgery. Currently, the combination of radiotherapy and chemotherapy does not prevent the recurrence of astrocytic tumours. In this study, we investigated the consistency in isocitrate dehydrogenase 1 (IDH1), tumour protein p53 (TP53) and telomerase reverse transcriptase promoter (TERTp) mutations during astrocytic tumour recurrence. We also evaluated the protein loss of O-6-methylguanine-DNA methyltransferase (MGMT) and alpha-thalassemia/mental retardation, X-linked (ATRX) during disease recurrence...
October 12, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29025599/constitutional-mosaicism-of-a-de-novo-tp53-mutation-in-a-patient-with-bilateral-choroid-plexus-carcinoma
#6
Joanna Trubicka, Iwona Filipek, Iwanowski Piotr, Małgorzata Rydzanicz, Wiesława Grajkowska, Dorota Piekutowska-Abramczuk, Krystyna Chrzanowska, Agnieszka Karkucińska-Więckowska, Katarzyna Iwanicka-Pronicka, Maciej Pronicki, Maria Łastowska, Rafał Płoski, Bożenna Dembowska-Bagińska
Choroid plexus tumors (CPT) constitute 2%-5% of all pediatric brain tumors and include high grade choroid plexus carcinoma (CPC). About 40% of CPC patients harbor germline TP53 mutations, associated with diminished survival rates. However, the number of TP53 carriers might be underestimated due to suboptimal ability of Sanger sequencing to identify mosaicism. We describe an 18-month-old boy with ultra-rare, bilateral disseminated CPC and negative family history of cancer. Next generation sequencing (NGS) revealed constitutional mosaicism of de novo TP53 mutation, which was barely detectable by Sanger sequencing...
October 2017: Cancer Genetics
https://www.readbyqxmd.com/read/29025587/addition-of-chromosomal-microarray-and-next-generation-sequencing-to-fish-and-classical-cytogenetics-enhances-genomic-profiling-of-myeloid-malignancies
#7
Sandeep Mukherjee, Malini Sathanoori, Zeq Ma, Matthew Andreatta, Patrick A Lennon, Scott R Wheeler, James L Prescott, Christopher Coldren, Terence Casey, Heather Rietz, Kristina Fasig, Randall Woodford, Taylor Hartley, David Spence, William Donnelan, Jesus Berdeja, Ian Flinn, Natalia Kozyr, Mark Bouzyk, Mick Correll, Hao Ho, Vladimir Kravtsov, Dana Tunnel, Pranil Chandra
Comprehensive genetic profiling is increasingly important for the clinical workup of hematologic tumors, as specific alterations are now linked to diagnostic characterization, prognostic stratification and therapy selection. To characterize relevant genetic and genomic alterations in myeloid malignancies maximally, we utilized a comprehensive strategy spanning fluorescence in situ hybridization (FISH), classical karyotyping, Chromosomal Microarray (CMA) for detection of copy number variants (CNVs) and Next generation Sequencing (NGS) analysis...
October 2017: Cancer Genetics
https://www.readbyqxmd.com/read/29025585/genetic-gastric-cancer-susceptibility-in-the-international-clinical-cancer-genomics-community-research-network
#8
Thomas Slavin, Susan L Neuhausen, Christina Rybak, Ilana Solomon, Bita Nehoray, Kathleen Blazer, Mariana Niell-Swiller, Aaron W Adamson, Yate-Ching Yuan, Kai Yang, Sharon Sand, Danielle Castillo, Josef Herzog, Xiwei Wu, Shu Tao, Tanya Chavez, Yanghee Woo, Joseph Chao, Pamela Mora, Darling Horcasitas, Jeffrey Weitzel
Few susceptibility genes for gastric cancer have been identified. We sought to identify germline susceptibility genes from participants with gastric cancer from an international hereditary cancer research network. Adults with gastric cancer of any histology, and with a germline DNA sample (n = 51), were retrospectively selected. For those without previously identified germline mutations (n = 43), sequencing was performed for 706 candidate genes. Twenty pathogenic or likely pathogenic variants were identified among 18 participants...
October 2017: Cancer Genetics
https://www.readbyqxmd.com/read/29024486/development-of-locus-specific-sub-clone-separation-by-fluorescence-in-situ-hybridization-in-suspension-in-chronic-lymphocytic-leukemia
#9
Cuc H Do, Sheree Bailey, Cindy Macardle, Lauren A Thurgood, Karen M Lower, Bryone J Kuss
Intra-tumor genetic heterogeneity is a hallmark of cancer. The ability to monitor and analyze these sub-clonal cell populations can be considered key to successful treatment, particularly in the modern era of targeted therapies. Although advances in sequencing technologies have significantly improved our ability to analyze the mutational landscape of tumors, this utility is reduced when considering small, but clinically significant sub-clones, that is, those representing <10% of the tumor burden. We have developed a high-throughput method that utilizes a 17-probe labeled bacterial artificial chromosome contig to quantify sub-clonal populations of cells based on deletion of a single locus...
October 11, 2017: Cytometry. Part A: the Journal of the International Society for Analytical Cytology
https://www.readbyqxmd.com/read/29023992/therapy-related-chronic-myelomonocytic-leukemia-cmml-molecular-cytogenetic-and-clinical-distinctions-from-de-novo-cmml
#10
Mrinal M Patnaik, Rangit Vallapureddy, Fevzi F Yalniz, Curtis A Hanson, Rhett P Ketterling, Terra L Lasho, Christy Finke, Aref Al-Kali, Naseema Gangat, Ayalew Tefferi
Therapy related myeloid neoplasms (t-MN) including therapy related myelodysplastic syndromes (t-MDS) and acute myeloid leukemia (t-AML) are associated with aggressive disease biologies and poor outcomes. In this large (n=497) and informative (inclusive of molecular and cytogenetic information) chronic myelomonocytic leukemia (CMML) patient cohort, we demonstrate key biological insights and an independent prognostic impact for t-CMML. T-CMML was diagnosed in 9% of patients and occurred approximately 7 years after exposure to prior chemotherapy and/or radiation therapy...
October 11, 2017: American Journal of Hematology
https://www.readbyqxmd.com/read/29023534/bewith-a-between-within-method-to-discover-relationships-between-cancer-modules-via-integrated-analysis-of-mutual-exclusivity-co-occurrence-and-functional-interactions
#11
Phuong Dao, Yoo-Ah Kim, Damian Wojtowicz, Sanna Madan, Roded Sharan, Teresa M Przytycka
The analysis of the mutational landscape of cancer, including mutual exclusivity and co-occurrence of mutations, has been instrumental in studying the disease. We hypothesized that exploring the interplay between co-occurrence, mutual exclusivity, and functional interactions between genes will further improve our understanding of the disease and help to uncover new relations between cancer driving genes and pathways. To this end, we designed a general framework, BeWith, for identifying modules with different combinations of mutation and interaction patterns...
October 2017: PLoS Computational Biology
https://www.readbyqxmd.com/read/29021240/integrative-genome-analysis-of-somatic-p53-mutant-osteosarcomas-identifies-ets2-dependent-regulation-of-small-nucleolar-rnas-by-mutant-p53-protein
#12
Rasoul Pourebrahim, Yun Zhang, Bin Liu, Ruli Gao, Shunbin Xiong, Patrick P Lin, Mark J McArthur, Michael C Ostrowski, Guillermina Lozano
TP53 is the most frequently mutated gene in human cancer. Many mutant p53 proteins exert oncogenic gain-of-function (GOF) properties that contribute to metastasis, but the mechanisms mediating these functions remain poorly defined in vivo. To elucidate how mutant p53 GOF drives metastasis, we developed a traceable somatic osteosarcoma mouse model that is initiated with either a single p53 mutation (p53R172H) or p53 loss in osteoblasts. Our study confirmed that p53 mutant mice developed osteosarcomas with increased metastasis as compared with p53-null mice...
October 11, 2017: Genes & Development
https://www.readbyqxmd.com/read/29017057/a-p53-super-tumor-suppressor-reveals-a-tumor-suppressive-p53-ptpn14-yap-axis-in-pancreatic-cancer
#13
Stephano S Mello, Liz J Valente, Nitin Raj, Jose A Seoane, Brittany M Flowers, Jacob McClendon, Kathryn T Bieging-Rolett, Jonghyeob Lee, Danton Ivanochko, Margaret M Kozak, Daniel T Chang, Teri A Longacre, Albert C Koong, Cheryl H Arrowsmith, Seung K Kim, Hannes Vogel, Laura D Wood, Ralph H Hruban, Christina Curtis, Laura D Attardi
The p53 transcription factor is a critical barrier to pancreatic cancer progression. To unravel mechanisms of p53-mediated tumor suppression, which have remained elusive, we analyzed pancreatic cancer development in mice expressing p53 transcriptional activation domain (TAD) mutants. Surprisingly, the p53(53,54) TAD2 mutant behaves as a "super-tumor suppressor," with an enhanced capacity to both suppress pancreatic cancer and transactivate select p53 target genes, including Ptpn14. Ptpn14 encodes a negative regulator of the Yap oncoprotein and is necessary and sufficient for pancreatic cancer suppression, like p53...
October 9, 2017: Cancer Cell
https://www.readbyqxmd.com/read/29016808/molecular-differences-in-idh-wildtype-glioblastoma-according-to-mgmt-promoter-methylation
#14
Tobias Kessler, Felix Sahm, Ahmed Sadik, Damian Stichel, Anne Hertenstein, Guido Reifenberger, Angela Zacher, Michael Sabel, Ghazaleh Tabatabai, Joachim Steinbach, Ulrich Sure, Dietmar Krex, Anca-L Grosu, Melanie Bewerunge-Hudler, David Jones, Stefan M Pfister, Michael Weller, Christiane Opitz, Martin Bendszus, Andreas von Deimling, Michael Platten, Wolfgang Wick
Background: O6-methylguanine-DNA-methyltransferase (MGMT) promoter methylation status is a predictive biomarker in glioblastoma. We investigated whether this marker furthermore defines a molecularly distinct tumor subtype with clinically different outcome. Methods: We analyzed copy number alteration (CNV) and methylation profiles of 1095 primary and 92 progressive Isocitrate dehydrogenase (IDH) wildtype glioblastomas, including paired samples from 49 patients. DNA mutation data from 182 glioblastoma samples of The Cancer Genome Atlas (TCGA) and RNA expression from 107 TCGA and 55 Chinese Glioma Genome Atlas samples were analyzed...
August 24, 2017: Neuro-oncology
https://www.readbyqxmd.com/read/29016571/prevalence-and-timing-of-tp53-mutations-in-del-17p-myeloma-and-effect-on-survival
#15
M Chin, J I Sive, C Allen, C Roddie, S J Chavda, D Smith, P Blombery, K Jones, G L Ryland, R Popat, A Rismani, S D'Sa, N Rabin, R E Gale, K L Yong
No abstract text is available yet for this article.
September 15, 2017: Blood Cancer Journal
https://www.readbyqxmd.com/read/28994108/value-of-a-molecular-screening-program-to-support-clinical-trial-enrollment-in-asian-cancer-patients-the-integrated-molecular-analysis-of-cancer-imac-study
#16
Valerie Heong, Nicholas L Syn, Xiao Wen Lee, Nur Sabrina Sapari, Xue Qing Koh, Zul Fazreen Adam Isa, Joey Sy Lim, Diana Lim, Brendan Pang, Yee Liang Thian, Lai Kuan Ng, Andrea L Wong, Ross Andrew Soo, Wei Peng Yong, Cheng Ean Chee, Soo-Chin Lee, Boon-Cher Goh, Richie Soong, David S P Tan
The value of precision oncology initiatives in Asian contexts remains unresolved. Here we review the institutional implementation of prospective molecular screening to facilitate accrual of patients into biomarker-driven clinical trials, and to explore the mutational landscape of advanced tumors occurring in a prospective cohort of Asian patients (n = 396) with diverse cancer types. Next-generation sequencing (NGS) and routine clinicopathological assays such as immunohistochemistry, copy number analysis, and in situ hybridization tests were performed on tumor samples...
October 9, 2017: International Journal of Cancer. Journal International du Cancer
https://www.readbyqxmd.com/read/28994094/novel-prognostic-molecular-factors-a-quantum-leap-in-the-field-of-chronic-lymphocytic-leukemia
#17
Ewelina Zakrzewska, Marta Pirog, Joanna Purkot, Krzysztof Giannopoulos
Cytogenetic lesions do not completely explain clinical heterogeneity of chronic lymphocytic leukemia (CLL). The 2016 revision of the World Health Organization classification 2008 introduced that molecular lesions of TP53, NOTCH1, SF3B1 and BIRC3 have potential clinical relevance and could be integrated into an updated risk profile. The negative clinical implications of TP53 disruptions are well constituted and patients with these mutations should be considered for novel, small molecule signal transduction inhibitors therapies...
October 10, 2017: Folia Histochemica et Cytobiologica
https://www.readbyqxmd.com/read/28993730/molecular-guided-therapy-provides-sustained-clinical-response-in-refractory-choroid-plexus-carcinoma
#18
Albert Cornelius, Jessica Foley, Jeffrey Bond, Abhinav B Nagulapally, Julie Steinbrecher, William P D Hendricks, Maria Rich, Sangeeta Yendrembam, Genevieve Bergendahl, Jeffrey M Trent, Giselle S Sholler
Choroid plexus carcinomas (CPCs) are rare, aggressive pediatric brain tumors with no established curative therapy for relapsed disease, and poor survival rates. TP53 Mutation or dysfunction correlates with poor or no survival outcome in CPCs. Here, we report the case of a 4 month-old female who presented with disseminated CPC. After initial response to tumor resection and adjuvant-chemotherapy, the tumor recurred and metastasized with no response to aggressive relapse therapy suggesting genetic predisposition...
2017: Frontiers in Pharmacology
https://www.readbyqxmd.com/read/28993478/the-effect-of-mutant-p53-proteins-on-glycolysis-and-mitochondrial-metabolism
#19
Matilda Eriksson, Gorbatchev Ambroise, Amanda Tomie Ouchida, Andre Lima Queiroz, Dominique Smith, Alfredo Gimenez-Cassina, Marcin P Iwanicki, Patricia A Muller, Erik Norberg, Helin Vakifahmetoglu-Norberg
TP53 is one of the most commonly mutated genes in human cancers. Unlike other tumor suppressors that are frequently deleted or acquire loss-of-function mutations, the majority of TP53 mutations in tumors are missense substitutions, which lead to the expression of full-length mutant proteins that accumulate in cancer cells and may confer unique gain-of-function (GOF) activities to promote tumorigenic events. Recently, mutant p53 proteins have been shown to mediate metabolic changes as a novel GOF to promote tumor development...
October 9, 2017: Molecular and Cellular Biology
https://www.readbyqxmd.com/read/28988289/whole-body-magnetic-resonance-imaging-wb-mri-and-brain-mri-baseline-surveillance-in-tp53-germline-mutation-carriers-experience-from-the-li-fraumeni-syndrome-education-and-early-detection-lead-clinic
#20
Jasmina Bojadzieva, Behrang Amini, Suzanne F Day, Tiffiny L Jackson, Parijatham S Thomas, Brandy J Willis, Whitney R Throckmorton, Najat C Daw, Therese B Bevers, Louise C Strong
Individuals with Li-Fraumeni syndrome (LFS) have a significantly increased lifetime cancer risk affecting multiple organ sites. Therefore, novel comprehensive screening approaches are necessary to improve cancer detection and survival in this population. The objective of this study was to determine the diagnostic performance of whole body MRI (WB-MRI) and dedicated brain MRI screening as part of a comprehensive screening clinic called Li-Fraumeni Education and Early Detection (LEAD) at MD Anderson Cancer Center...
October 7, 2017: Familial Cancer
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