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https://www.readbyqxmd.com/read/29912004/clinical-and-molecular-recursive-partitioning-analysis-of-high-grade-glioma-treated-with-imrt
#1
Philip Sutera, Ronny Kalash, John Flickinger, Johnathan Engh, Dwight E Heron
INTRODUCTION: Despite multimodal treatment for high-grade gliomas, prognosis remains grim. Prior Radiation Therapy Oncology Group-Recursive Partitioning Analysis (RTOG-RPA) reports indicate based on pretreatment and treatment-related factors, a subset of patients experience a significantly improved survival. Since the development of the RTOG-RPA, high-grade gliomas have seen the widespread introduction of temozolomide and tumor oncogenetics. Here we aimed to determine whether the RTOG-RPA retained prognostic significance in the context of modern treatment, as well as generate an updated RPA incorporating both clinical and genetic variables...
June 14, 2018: American Journal of Clinical Oncology
https://www.readbyqxmd.com/read/29741668/dynamic-chromosomal-tuning-of-a-novel-gau1-lncing-driver-at-chr12p13-32-accelerates-tumorigenesis
#2
Peiwei Chai, Ruobing Jia, Renbing Jia, Hui Pan, Shaoyun Wang, Hongyan Ni, Huixue Wang, Chuandi Zhou, Yingyun Shi, Shengfang Ge, He Zhang, Xianqun Fan
Aberrant chromatin transformation dysregulates gene expression and may be an important driver of tumorigenesis. However, the functional role of chromosomal dynamics in tumorigenesis remains to be elucidated. Here, using in vitro and in vivo experiments, we reveal a novel long noncoding (lncing) driver at chr12p13.3, in which a novel lncRNA GALNT8 Antisense Upstream 1 (GAU1) is initially activated by an open chromatin status, triggering recruitment of the transcription elongation factor TCEA1 at the oncogene GALNT8 promoter and cis-activates the expression of GALNT8...
May 8, 2018: Nucleic Acids Research
https://www.readbyqxmd.com/read/29732366/importance-of-comprehensive-molecular-profiling-for-clinical-outcome-in-children-with-recurrent-cancer
#3
Olga Østrup, Karsten Nysom, David Scheie, Ane Y Schmidt, Rene Mathiasen, Lisa L Hjalgrim, Tina E Olsen, Jane Skjøth-Rasmussen, Birthe M Henriksen, Finn C Nielsen, Peder S Wehner, Henrik Schrøder, Astrid M Sehested, Catherine Rechnitzer, Maria Rossing
Purpose: Pediatric cancers are often difficult to classify and can be complex to treat. To ensure precise diagnostics and identify relevant treatment targets, we implemented comprehensive molecular profiling of consecutive pediatric patients with cancer relapse. We evaluated the clinical impact of extensive molecular profiling by assessing the frequency of identified biological onco-drivers, altered diagnosis, and/or identification of new relevant targeted therapies. Patients and Methods: Forty-six tumor samples (44 fresh-frozen; two formalin-fixed paraffin embedded), two bone marrow aspirates, three cerebrospinal fluid samples, and one archived DNA were obtained from 48 children (0-17 years; median 9...
2018: Frontiers in Pediatrics
https://www.readbyqxmd.com/read/29725261/tumor-necrosis-factor-%C3%AE-induced-protein-8-pathophysiology-clinical-significance-and-regulatory-mechanism
#4
REVIEW
Lei Zhang, Ran Liu, Ying-Yi Luan, Yong-Ming Yao
Tumor necrosis factor-α-induced protein-8 (TNFAIP8) is the earliest discovered component of TNFAIP8 family [tumor necrosis factor-α-induced protein-8 like (TIPE) family]. TNFAIP8 contains a putative death effector domain (DED) homologous to DED II in FLIP (Fas-associated death domain-like interleukin-1β-converting enzyme-inhibitory protein), which may affect cell survival/death process. Recently, it has been demonstrated that TNFAIP8 could inhibit apoptosis and autophagy in various types of cells. Moreover, TNFAIP8 level fluctuated evidently in patients with inflammatory, malignant, and autoimmune diseases, indicating that it might be an anti-apoptotic and oncogenetic protein...
2018: International Journal of Biological Sciences
https://www.readbyqxmd.com/read/29685074/clinical-and-molecular-characterization-of-neurofibromatosis-in-southern-brazil
#5
Clévia Rosset, Filippo Vairo, Isabel Cristina Bandeira, Maievi Fonini, Cristina Brinckmann Oliveira Netto, Patricia Ashton-Prolla
OBJECTIVES: Neurofibromatoses (type 1: NF1; type 2: NF2) are autosomal dominant tumor predisposition syndromes mostly caused by loss-of-function mutations in the tumor suppressor genes NF1 and NF2, respectively. Genotyping is important for correct diagnosis of these diseases. The authors aimed to characterize NF1 and NF2 variants in patients from Southern Brazil. METHODS: Ninety-three unrelated probands with NF1 and 7 unrelated probands with NF2 features were recruited from an Oncogenetics center in Southern Brazil...
June 2018: Expert Review of Molecular Diagnostics
https://www.readbyqxmd.com/read/29661971/cm-score-a-validated-scoring-system-to-predict-cdkn2a-germline-mutations-in-melanoma-families-from-northern-europe
#6
Thomas P Potjer, Hildur Helgadottir, Mirjam Leenheer, Nienke van der Stoep, Nelleke A Gruis, Veronica Höiom, Håkan Olsson, Remco van Doorn, Hans F A Vasen, Christi J van Asperen, Olaf M Dekkers, Frederik J Hes
BACKGROUND: Several factors have been reported that influence the probability of a germline CDKN2A mutation in a melanoma family. Our goal was to create a scoring system to estimate this probability, based on a set of clinical features present in the patient and his or her family. METHODS: Five clinical features and their association with CDKN2A mutations were investigated in a training cohort of 1227 Dutch melanoma families (13.7% with CDKN2A mutation) using multivariate logistic regression...
April 16, 2018: Journal of Medical Genetics
https://www.readbyqxmd.com/read/29581789/integrated-oncogenomic-profiling-of-copy-numbers-and-gene-expression-in-lung-adenocarcinomas-without-egfr-mutations-or-alk-fusion
#7
Yanzhuo Luo, Bingjin Li, Guangxin Zhang, Yuxiao He, Jeeyoo Hope Bae, Fengping Hu, Ranji Cui, Runhua Liu, Zhou Wang, Lizhong Wang
Targeted therapies based on EGFR mutations or on the ALK fusion oncogene have become the standard treatment for certain patients with lung adenocarcinoma (LUAD). However, most LUAD patients have no EGFR mutation or ALK fusion, and their oncogenetic alterations remain to be characterized. Here we conducted an integrated analysis of public datasets to assess the genomic alterations of 23 highly lung cancer-associated genes. The copy numbers of these genes were measured in ten micro-dissected, paired tumors and normal lung tissues of LUAD patients without EGFR mutations or ALK fusion...
2018: Journal of Cancer
https://www.readbyqxmd.com/read/29560538/mutational-analysis-of-candidate-genes-in-israeli-male-breast-cancer-cases
#8
Hagit Schayek, Hila Korach, Yael Laitman, Rinat Bernstein-Molho, Eitan Friedman
PURPOSE: To define the mutational spectrum of several candidate gene mutations in Israeli male breast cancer cases. METHODS: MBC cases counselled at the Oncogenetics unit, Sheba Medical Center from January 1998 to June 2017 were included. Relevant clinical and oncological data and cancer phenotype were retrieved. All participants were genotyped for the predominant Jewish BRCA1 and BRCA2 germline mutations using a chip-based assay. Those who tested negative were further genotyped for three recurring mutations in CHEK2 (c...
March 21, 2018: Breast Cancer Research and Treatment
https://www.readbyqxmd.com/read/29550896/clinical-and-pathologic-characteristics-of-breast-cancer-patients-carrying-the-c-3481_3491del11-mutation
#9
R El Tannouri, E Albuisson, P Jonveaux, E Luporsi
Tumor characteristics are used today to evaluate the possibility of mutation and to target mutation screening in families with high risk of breast and/or ovarian cancer. We studied the breast tumor profile associated to the c.3481_3491del11 French founder effect mutation on the BRCA1 gene to an attempt to identify any particularity or difference when comparing it to that related to other BRCA1 mutations. Within the population who were referred to our oncogenetic clinic at the Lorraine Oncology Institute in France and who underwent genetic testing between 1994 and 2012, we identified 404 women carrying a BRCA1 mutation...
March 17, 2018: Familial Cancer
https://www.readbyqxmd.com/read/29549420/-morphological-spectrum-of-usp6-rearranged-lesions
#10
G Mechtersheimer, M Werner
USP6, also known as Tre-2 and TRE17, is an ubiquitase-specific proteinase that was identified more than two decades ago as a potential oncogene when it exhibited transforming properties upon overexpression in NIH 3T3 cells. Until recently, however, little was known about the function and the oncogenetic activation of USP6. The identification of rearrangements of the USP6 gene in aneurysmal bone cyst and in nodular fasciitis has not only led to a better understanding of the pathogenesis of these entities, but is also a useful tool in their diagnosis and differential diagnostic delineation from morphological mimics...
March 2018: Der Pathologe
https://www.readbyqxmd.com/read/29446198/mutational-spectrum-in-a-worldwide-study-of-29-700-families-with-brca1-or-brca2-mutations
#11
Timothy R Rebbeck, Tara M Friebel, Eitan Friedman, Ute Hamann, Dezheng Huo, Ava Kwong, Edith Olah, Olufunmilayo I Olopade, Angela R Solano, Soo-Hwang Teo, Mads Thomassen, Jeffrey N Weitzel, T L Chan, Fergus J Couch, David E Goldgar, Torben A Kruse, Edenir Inêz Palmero, Sue Kyung Park, Diana Torres, Elizabeth J van Rensburg, Lesley McGuffog, Michael T Parsons, Goska Leslie, Cora M Aalfs, Julio Abugattas, Julian Adlard, Simona Agata, Kristiina Aittomäki, Lesley Andrews, Irene L Andrulis, Adalgeir Arason, Norbert Arnold, Banu K Arun, Ella Asseryanis, Leo Auerbach, Jacopo Azzollini, Judith Balmaña, Monica Barile, Rosa B Barkardottir, Daniel Barrowdale, Javier Benitez, Andreas Berger, Raanan Berger, Amie M Blanco, Kathleen R Blazer, Marinus J Blok, Valérie Bonadona, Bernardo Bonanni, Angela R Bradbury, Carole Brewer, Bruno Buecher, Saundra S Buys, Trinidad Caldes, Almuth Caliebe, Maria A Caligo, Ian Campbell, Sandrine M Caputo, Jocelyne Chiquette, Wendy K Chung, Kathleen B M Claes, J Margriet Collée, Jackie Cook, Rosemarie Davidson, Miguel de la Hoya, Kim De Leeneer, Antoine de Pauw, Capucine Delnatte, Orland Diez, Yuan Chun Ding, Nina Ditsch, Susan M Domchek, Cecilia M Dorfling, Carolina Velazquez, Bernd Dworniczak, Jacqueline Eason, Douglas F Easton, Ros Eeles, Hans Ehrencrona, Bent Ejlertsen, Christoph Engel, Stefanie Engert, D Gareth Evans, Laurence Faivre, Lidia Feliubadaló, Sandra Fert Ferrer, Lenka Foretova, Jeffrey Fowler, Debra Frost, Henrique C R Galvão, Patricia A Ganz, Judy Garber, Marion Gauthier-Villars, Andrea Gehrig, Anne-Marie Gerdes, Paul Gesta, Giuseppe Giannini, Sophie Giraud, Gord Glendon, Andrew K Godwin, Mark H Greene, Jacek Gronwald, Angelica Gutierrez-Barrera, Eric Hahnen, Jan Hauke, Alex Henderson, Julia Hentschel, Frans B L Hogervorst, Ellen Honisch, Evgeny N Imyanitov, Claudine Isaacs, Louise Izatt, Angel Izquierdo, Anna Jakubowska, Paul James, Ramunas Janavicius, Uffe Birk Jensen, Esther M John, Joseph Vijai, Katarzyna Kaczmarek, Beth Y Karlan, Karin Kast, KConFab Investigators, Sung-Won Kim, Irene Konstantopoulou, Jacob Korach, Yael Laitman, Adriana Lasa, Christine Lasset, Conxi Lázaro, Annette Lee, Min Hyuk Lee, Jenny Lester, Fabienne Lesueur, Annelie Liljegren, Noralane M Lindor, Michel Longy, Jennifer T Loud, Karen H Lu, Jan Lubinski, Eva Machackova, Siranoush Manoukian, Véronique Mari, Cristina Martínez-Bouzas, Zoltan Matrai, Noura Mebirouk, Hanne E J Meijers-Heijboer, Alfons Meindl, Arjen R Mensenkamp, Ugnius Mickys, Austin Miller, Marco Montagna, Kirsten B Moysich, Anna Marie Mulligan, Jacob Musinsky, Susan L Neuhausen, Heli Nevanlinna, Joanne Ngeow, Huu Phuc Nguyen, Dieter Niederacher, Henriette Roed Nielsen, Finn Cilius Nielsen, Robert L Nussbaum, Kenneth Offit, Anna Öfverholm, Kai-Ren Ong, Ana Osorio, Laura Papi, Janos Papp, Barbara Pasini, Inge Sokilde Pedersen, Ana Peixoto, Nina Peruga, Paolo Peterlongo, Esther Pohl, Nisha Pradhan, Karolina Prajzendanc, Fabienne Prieur, Pascal Pujol, Paolo Radice, Susan J Ramus, Johanna Rantala, Muhammad Usman Rashid, Kerstin Rhiem, Mark Robson, Gustavo C Rodriguez, Mark T Rogers, Vilius Rudaitis, Ane Y Schmidt, Rita Katharina Schmutzler, Leigha Senter, Payal D Shah, Priyanka Sharma, Lucy E Side, Jacques Simard, Christian F Singer, Anne-Bine Skytte, Thomas P Slavin, Katie Snape, Hagay Sobol, Melissa Southey, Linda Steele, Doris Steinemann, Grzegorz Sukiennicki, Christian Sutter, Csilla I Szabo, Yen Y Tan, Manuel R Teixeira, Mary Beth Terry, Alex Teulé, Abigail Thomas, Darcy L Thull, Marc Tischkowitz, Silvia Tognazzo, Amanda Ewart Toland, Sabine Topka, Alison H Trainer, Nadine Tung, Christi J van Asperen, Annemieke H van der Hout, Lizet E van der Kolk, Rob B van der Luijt, Mattias Van Heetvelde, Liliana Varesco, Raymonda Varon-Mateeva, Ana Vega, Cynthia Villarreal-Garza, Anna von Wachenfeldt, Lisa Walker, Shan Wang-Gohrke, Barbara Wappenschmidt, Bernhard H F Weber, Drakoulis Yannoukakos, Sook-Yee Yoon, Cristina Zanzottera, Jamal Zidan, Kristin K Zorn, Christina G Hutten Selkirk, Peter J Hulick, Georgia Chenevix-Trench, Amanda B Spurdle, Antonis C Antoniou, Katherine L Nathanson
The prevalence and spectrum of germline mutations in BRCA1 and BRCA2 have been reported in single populations, with the majority of reports focused on White in Europe and North America. The Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA) has assembled data on 18,435 families with BRCA1 mutations and 11,351 families with BRCA2 mutations ascertained from 69 centers in 49 countries on six continents. This study comprehensively describes the characteristics of the 1,650 unique BRCA1 and 1,731 unique BRCA2 deleterious (disease-associated) mutations identified in the CIMBA database...
May 2018: Human Mutation
https://www.readbyqxmd.com/read/29372364/reproductive-decision-support-preferences-and-needs-of-couples-at-risk-for-hereditary-cancer-and-clinical-geneticists
#12
Kelly Reumkens, A J G van Oudheusden, J J G Gietel-Habets, M H E Tummers, C E M de Die-Smulders, L A D M van Osch
For couples at high risk of transmitting a cancer predisposition to offspring, reproductive decision-making can be challenging. As the choice between available reproductive options is preference-sensitive, the use of a decision aid can support these couples in their decisional process. The present study aims to investigate preferences and needs of involved stakeholders regarding the development and implementation of a patient decision aid. Semi-structured interviews assessing the needs and preferences regarding the content and functionalities of a decision support program were conducted among seven couples at risk for hereditary cancer and among eight clinical geneticists involved in oncogenetic counseling...
January 25, 2018: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/29367707/cost-of-cancer-diagnosis-using-next-generation-sequencing-targeted-gene-panels-in-routine-practice-a-nationwide-french-study
#13
Patricia Marino, Rajae Touzani, Lionel Perrier, Etienne Rouleau, Dede Sika Kossi, Zou Zhaomin, Nathanaël Charrier, Nicolas Goardon, Claude Preudhomme, Isabelle Durand-Zaleski, Isabelle Borget, Sandrine Baffert
It is currently unclear if next-generation sequencing (NGS) technologies can be implemented in the diagnosis setting at an affordable cost. The aim of this study was to measure the total cost of performing NGS in clinical practice in France, in both germline and somatic cancer genetics.The study was performed on 15 French representative cancer molecular genetics laboratories performing NGS panels' tests. The production cost was estimated using a micro-costing method with resources consumed collected in situ in each laboratory from a healthcare provider perspective...
January 24, 2018: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/29348314/oncogenetics-and-mrd-in-pediatric-t-all
#14
(no author information available yet)
No abstract text is available yet for this article.
January 18, 2018: Blood
https://www.readbyqxmd.com/read/29170016/-sporadic-kidney-cancer-of-young-subjects-study-of-the-clinical-and-pathological-features-of-a-bicentric-cohort
#15
J Cohen, M O Timsit, O D Zerbib, M Rouprêt, V Verkarre, E Comperat, A Mejean, M O Bitker
INTRODUCTION: The epidemiology of kidney cancer is evolving with a net increase in the incidence of renal tumors, globally, and in young people in particular. OBJECTIVE: To evaluate the incidence and clinical and pathological characteristics of sporadic renal tumors in young subjects and their risk factors. MATERIAL AND METHODS: A retrospective study aimed at collecting clinical, epidemiological and anatomopathological information from the 118 patients aged 18 to 40 treated for a sporadic kidney tumor in two Parisian university hospital centers between 2003 and 2013...
February 2018: Progrès en Urologie
https://www.readbyqxmd.com/read/29164969/accuracy-of-self-reported-family-history-of-cancer-mutation-status-and-tumor-characteristics-in-patients-with-early-onset-breast-cancer
#16
Annelie Augustinsson, Carolina Ellberg, Ulf Kristoffersson, Åke Borg, Håkan Olsson
BACKGROUND: The main objectives of this study were to evaluate the concordance between self-reported and registry-reported information regarding family history of breast cancer (BC), ovarian cancer (OvC) and other types of cancer in first-degree relatives of patients with early onset BC, and to determine the frequency of mutation carriers and non-mutation carriers. The secondary objective was to describe tumor characteristics for each mutation group. MATERIAL AND METHODS: Between 1993 and 2013, 231 women who were ≤35 years old when diagnosed with BC were registered at the Oncogenetic Clinic at Skåne University Hospital in Lund, Sweden...
May 2018: Acta Oncologica
https://www.readbyqxmd.com/read/29055968/identification-of-hereditary-cancer-in-the-general-population-development-and-validation-of-a-screening-questionnaire-for-obtaining-the-family-history-of-cancer
#17
Natalia Campacci, Juliana O de Lima, André L Carvalho, Rodrigo D Michelli, Rafael Haikel, Edmundo Mauad, Danilo V Viana, Matias E Melendez, Fabiana de L Vazquez, Cleyton Zanardo, Rui M Reis, Benedito M Rossi, Edenir I Palmero
One of the challenges for Latin American countries is to include in their healthcare systems technologies that can be applied to hereditary cancer detection and management. The aim of the study is to create and validate a questionnaire to identify individuals with possible risk for hereditary cancer predisposition syndromes (HCPS), using different strategies in a Cancer Prevention Service in Brazil. The primary screening questionnaire (PSQ) was developed to identify families at-risk for HCPS. The PSQ was validated using discrimination measures, and the reproducibility was estimated through kappa coefficient...
December 2017: Cancer Medicine
https://www.readbyqxmd.com/read/29051182/oncogenetic-mutations-combined-with-mrd-improve-outcome-prediction-in-pediatric-t-cell-acute-lymphoblastic-leukemia
#18
Arnaud Petit, Amélie Trinquand, Sylvie Chevret, Paola Ballerini, Jean-Michel Cayuela, Nathalie Grardel, Aurore Touzart, Benoit Brethon, Hélène Lapillonne, Claudine Schmitt, Sandrine Thouvenin, Gerard Michel, Claude Preudhomme, Jean Soulier, Judith Landman-Parker, Guy Leverger, Elizabeth Macintyre, André Baruchel, Vahid Asnafi
Risk stratification in childhood T-cell acute lymphoblastic leukemia (T-ALL) is mainly based on minimal residual disease (MRD) quantification. Whether oncogenetic mutation profiles can improve the discrimination of MRD-defined risk categories was unknown. Two hundred and twenty FRALLE2000T-treated patients were tested retrospectively for NOTCH1/FBXW7/RAS and PTEN alterations. Patients with NOTCH1/FBXW7 ( N/F ) mutations and RAS/PTEN ( R/P ) germ line (GL) were classified as oncogenetic low risk (gLoR; n = 111), whereas those with N/F GL and R/P GL mutations or N/F and R/P mutations were classified as high risk (gHiR; n = 109)...
January 18, 2018: Blood
https://www.readbyqxmd.com/read/29020660/identification-of-twenty-nine-novel-germline-unclassified-variants-of-brca1-and-brca2-genes-in-1400-italian-individuals
#19
Concetta Santonocito, Margherita Scapaticci, Donatella Guarino, Andrea Bartolini, Angelo Minucci, Paola Concolino, Giovanni Scambia, Ida Paris, Ettore Capoluongo
OBJECTIVES: Breast and/or ovarian cancers are complex multifactorial diseases caused by interaction of both genetic and non-genetic factors and characterized by predisposition to inheritance. BRCA1 and BRCA2 genes are the most clinically involved with these kinds of cancer and the spectrum of variants affecting these genes is very wide. In fact, point variants, large or small insertions/deletions, genomic rearrangements can be found in these patients, although a large number of variants with uncertain biological and clinical significance continues to be identified...
December 2017: Breast: Official Journal of the European Society of Mastology
https://www.readbyqxmd.com/read/28978123/iaspp-overexpression-is-associated-with-clinical-outcome-in-spinal-chordoma-and-influences-cellular-proliferation-invasion-and-sensitivity-to-cisplatin-in-vitro
#20
Yunlong Ma, Bin Zhu, Xiaoguang Liu, Zhongjun Liu, Liang Jiang, Feng Wei, Miao Yu, Fengliang Wu, Hua Zhou, Nanfang Xu, Xiao Liu, Lei Yong, Yongqiang Wang, Peng Wang, Chen Liang, Guanping He
The oncogenetic function of inhibitory member of the apoptosis stimulating protein of p53 family (iASPP) in chordoma is unclear and remains to elucidate. The expression of iASPP in chordoma tissues and cells, its correlation to clinicopathological parameters and the effect on the patients' prognosis were evaluated. Cellular proliferation, invasion and cisplatin-response were observed after the iASPP knockdown or overexpression in vitro. Co-Immunoprecipitation assay was used to explore the interaction between iASPP and p53...
September 15, 2017: Oncotarget
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