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Dissertations / Theses on the topic 'BRAF mutations'

Author: Grafiati

Published: 4 June 2021

Last updated: 18 June 2025

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1

Medina-Pérez, Paula Andrea. "Functional characterization of cancer- and RASopathies-associated SHP2 and BRAF mutations." Doctoral thesis, Humboldt-Universität zu Berlin, Lebenswissenschaftliche Fakultät, 2016. http://dx.doi.org/10.18452/17420.

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Deregulierung des RAS/MAPK Signalwegs führen nicht nur zur Krebsentstehung, sondern sind auch mitverantwortlich für Entwicklungsstörungen, dieals Keimbahnmutationen in Schlüsselregulatoren des MAPK Signalwegs zurückzuführen sind, werden aufgrund überlappender Phänotypen unter dem Begriff RASopathien subsumiert. Obwohl die Inzidenz für solide Tumore bei diesen Patienten gering ist, wird ein Zusammenhang zum Auftreten verschiedener Leukämieformen deutlich. Im Rahmen dieser Arbeit wurden Mutationen zweier Schlüsselregulatoren des MAPK Signalwegs, PTPN11 und BRAF, hinsichtlich ihrer Fähigkeit zur

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Ali, Muhammad Akhtar. "Understanding Cancer Mutations by Genome Editing." Doctoral thesis, Uppsala universitet, Genomik, 2014. http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-235680.

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Mutational analyses of cancer genomes have identified novel candidate cancer genes with hitherto unknown function in cancer. To enable phenotyping of mutations in such genes, we have developed a scalable technology for gene knock-in and knock-out in human somatic cells based on recombination-mediated construct generation and a computational tool to design gene targeting constructs. Using this technology, we have generated somatic cell knock-outs of the putative cancer genes ZBED6 and DIP2C in human colorectal cancer cells. In ZBED6-/- cells complete loss of functional ZBED6 was validated and l

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3

Seitz-Alghrouz, Ruth Christin [Verfasser], and Paul [Akademischer Betreuer] Fisch. "BRAF V600E mutations in nevi and melanocytic tumors of uncertain malignant potential (MELTUMPs)." Freiburg : Universität, 2019. http://d-nb.info/1188195891/34.

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4

Cesari, Valentina <1985&gt. "High sensitivity analysis of BRAF mutations in neoplastic and non-neoplastic thyroid lesions." Doctoral thesis, Alma Mater Studiorum - Università di Bologna, 2014. http://amsdottorato.unibo.it/6360/1/Cesari_Valentina_tesi.pdf.

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The clonal distribution of BRAFV600E in papillary thyroid carcinoma (PTC) has been recently debated. No information is currently available about precursor lesions of PTCs. My first aim was to establish whether the BRAFV600E mutation occurs as a subclonal event in PTCs. My second aim was to screen BRAF mutations in histologically benign tissue of cases with BRAFV600E or BRAFwt PTCs in order to identify putative precursor lesions of PTCs. Highly sensitive semi-quantitative methods were used: Allele Specific LNA quantitative PCR (ASLNAqPCR) and 454 Next-Generation Sequencing (NGS). For the firs

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Cesari, Valentina <1985&gt. "High sensitivity analysis of BRAF mutations in neoplastic and non-neoplastic thyroid lesions." Doctoral thesis, Alma Mater Studiorum - Università di Bologna, 2014. http://amsdottorato.unibo.it/6360/.

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The clonal distribution of BRAFV600E in papillary thyroid carcinoma (PTC) has been recently debated. No information is currently available about precursor lesions of PTCs. My first aim was to establish whether the BRAFV600E mutation occurs as a subclonal event in PTCs. My second aim was to screen BRAF mutations in histologically benign tissue of cases with BRAFV600E or BRAFwt PTCs in order to identify putative precursor lesions of PTCs. Highly sensitive semi-quantitative methods were used: Allele Specific LNA quantitative PCR (ASLNAqPCR) and 454 Next-Generation Sequencing (NGS). For the firs

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6

SPAGNOLETTI, GIROLAMO. "Molecular mechanisms responsible for radiation resistance in colonrectal tumors." Doctoral thesis, Università di Foggia, 2016. http://hdl.handle.net/11369/339024.

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Abstract Introduction Radiotherapy is a well-established therapeutic modality for cancer. It is considered a crucial treatment for most common types of cancer and is usually used in conjunction with chemotherapy, hormone therapy or surgery. However, the presence of radioresistant cells is one of the major obstacles to successful treatment with radiotherapy. Ionizing radiation exerts its cytotoxic effect by the induction of double strand breaks (DSBs) and non-DSB highly clustered DNA lesions consisting in a combination of single strand breaks (SSBs), abasic sites and oxidized bases within

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7

Novo, Sonia Marisa. "Use of an ex vivo model of human colorectal tumours to study response to the MEK1/2 inhibitor AZD6244." Thesis, University of Edinburgh, 2013. http://hdl.handle.net/1842/11778.

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Colorectal cancer is the second most common cause of cancer death in Western Europe and North America. Current therapies are largely ineffective and are associated with considerable morbidity. Activating mutations in KRAS and BRAF genes are frequent in colorectal cancer, especially at later stages of the disease, and result in constitutive activity of the MAPK pathway, leading to increased proliferation and tumour survival. The MEK1/2 inhibitor AZD6244, that targets the MAPK pathway downstream of these mutations, has been tested as novel therapy for colorectal cancer. However, clinical trials

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8

Figueroa, Vazquez Vianihuini [Verfasser], and Marc-Steffen [Akademischer Betreuer] Raab. "Functional characterizations of BRAF mutations in multiple myeloma / Vianihuini Figueroa Vazquez ; Betreuer: Marc-Steffen Raab." Heidelberg : Universitätsbibliothek Heidelberg, 2017. http://d-nb.info/1178010937/34.

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9

Medina-Pérez, Paula Andrea [Verfasser], Reinhold [Akademischer Betreuer] Schäfer, Hanspeter [Akademischer Betreuer] Herzel, and Holger [Akademischer Betreuer] Sültmann. "Functional characterization of cancer- and RASopathies-associated SHP2 and BRAF mutations / Paula Andrea Medina-Pérez. Gutachter: Reinhold Schäfer ; Hanspeter Herzel ; Holger Sültmann." Berlin : Lebenswissenschaftliche Fakultät, 2016. http://d-nb.info/1081980923/34.

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10

Moulière, Florent. "Etude de la structure et de l'origine des ADN circulants : application à la mise au point d'un test de détection des mutations KRAS et BRAF dans le cancer colorectal." Thesis, Montpellier 2, 2012. http://www.theses.fr/2012MON20245/document.

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Les ADN circulants extracellulaires (ADNcf) sont considérés comme des biomarqueurs potentiels non invasifs de la progression tumorale. Ils présentent l'avantage d'être porteurs des altérations génétiques des tumeurs dont ils sont issus. Les connaissances sur les formes, les mécanismes de libération et les actions biologiques des ADNcf sont cependant encore peu caractérisées.Nous avons émis l'hypothèse que se focaliser sur l'étude de la structure et des origines des ADNcf issus des tumeurs permettrait d'ouvrir de nouvelles perspectives d'applications en génomique personnalisée.Nos travaux ont d

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11

Chen, Shuhui. "Étude des mutations des gènes KRAS, NRAS, BRAF, PIK3CA, MET et de l’expression des protéines P53 et PTEN et leurs implications cliniques dans le carcinome ovarien de haut grade." Thesis, Université de Lorraine, 2016. http://www.theses.fr/2016LORR0093/document.

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Objectifs: Malgré leur grande hétérogénéité histologique et moléculaire, la prise en charge clinique des carcinomes ovariens de haut-grade (COHG) reste peu variable. Le pronostic sombre de cette pathologie implique un réel besoin des nouvelles thérapies. Au-delà des marqueurs pronostiques histologiques classiques et des enquêtes oncogénétiques, l’objectif de cette étude a consisté à rechercher des cibles moléculaires pharmacologiquement recrutables afin de pouvoir proposer aux patientes un accès à la thérapie innovante et personnalisée. Méthodes: Cette étude a été réalisée chez 53 patientes (p

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12

Sugita, Juliana Sayuri. "ANÁLISE DA MUTAÇÃO V600E DO GENE BRAF EM MELANOMAS CUTÂNEOS PRIMÁRIOS." Pontifícia Universidade Católica de Goiás, 2012. http://localhost:8080/tede/handle/tede/2350.

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Made available in DSpace on 2016-08-10T10:38:34Z (GMT). No. of bitstreams: 1 JULIANA SAYURI SUGITA INUMARU.pdf: 977119 bytes, checksum: dd9451c21f0c8b8df529c718c8cf5860 (MD5) Previous issue date: 2012-08-24<br>Melanoma comprises about 4% of skin cancers, however, more than 95% of stage IV melanoma patients will die within five years and most patients will succumb in a year. The most commonly mutated gene in melanoma is BRAF V600E mutation, described in 40-70% of cutaneous melanomas. This mutation results in the substitution of valine for glutamic acid in codon 600, resulting in the active fo

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13

Keil, Philipp [Verfasser]. "BRAF V600 Mutationen in spindelzelligen und desmoplastischen Melanomen / Philipp Keil." Ulm : Universität Ulm, 2018. http://d-nb.info/115193819X/34.

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14

Silva, Rosana Correa da. "ANÁLISE DA MUTAÇÃO V600E DO GENE BRAF E DETECÇÃO IMUNO-HISTOQUÍMICA DA PROTEÍNA BRAF EM CARCINOMAS PAPILÍFEROS DE TIREÓIDE." Pontifícia Universidade Católica de Goiás, 2012. http://localhost:8080/tede/handle/tede/2345.

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Made available in DSpace on 2016-08-10T10:38:32Z (GMT). No. of bitstreams: 1 ROSANA CORREA DA SILVA.pdf: 1155135 bytes, checksum: a1c142c1de3c5263b64fc25cab61f452 (MD5) Previous issue date: 2012-03-28<br>Papillary carcinomas are the most common tumors of the thyroid, corresponding to 80% of all tumors that affect the gland. In such tumors, a common mutation at the BRAF gene has been detected, comprising a nucleotide transversion, T1799A, at the exon 15 of gene. This mutation has been identified in about 50 % of the thyroid papillary carcinomas (TPC). Clinical and experimental studies have de

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Gontijo, Antônio Paulo Machado. "ANÁLISE MOLECULAR DA MUTAÇÃO V600E DO GENE BRAF EM MICROCARCINOMA PAPILAR DE TIREÓIDE." Pontifícia Universidade Católica de Goiás, 2012. http://localhost:8080/tede/handle/tede/2363.

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Made available in DSpace on 2016-08-10T10:38:41Z (GMT). No. of bitstreams: 1 ANTONIO PAULO MACHADO GONTIJO.pdf: 1678535 bytes, checksum: 665466b4708c9e9ac445d3ca0ae06ef5 (MD5) Previous issue date: 2012-08-29<br>Thyroid cancer is the commonest endocrine malignancy, with a rising incidence all over the world. This increasing incidence is almost exclusively due to the papillary thyroid cancer (PTC) and 30% to 50% of these tumors are papillary thyroid microcarcinomas (PTMC). The many score systems for risk stratification of these patients in low and high risk have been revealed to be unsatisfact

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16

Piton, Nicolas. "Optimisation de la prise en charge diagnostique, pronostique et théranostique des carcinomes broncho-pulmonaires humains : des techniques d’imagerie in vivo à la biologie moléculaire. Ligation -dependent RT-PCR : a new specific and low-cost technique to detect ALK, ROS and RET rearrangements in lung adenocarcinoma A new assay for detection of theranostic gene translocations and MET exon 14 skipping in thoracic oncology. One-year perspective routine LD-RT-PCR in 413 newly diagnosed lung tumors STK11 mutations are associated with lower PDL1 expression in lung adenocarcinoma BRAF V600E mutation is not always present as expected ! A case report of lung and thyroid carcinomas A novel method for in vivo imaging of solitary lung nodules using navigational bronchoscopy and confocal laser microendoscopy." Thesis, Normandie, 2019. http://www.theses.fr/2019NORMR119.

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Le carcinome pulmonaire est une affection grave et fréquente dont la prise en charge a été bouleversée ces dernières années, tant sur le plan diagnostique que pronostique ou « théranostique » avec l’avènement des « thérapies ciblées ». Ces dernières permettent une nette amélioration de la survie et du confort des patients éligibles, mais ne sont pas sans compliquer le travail médical, depuis le diagnostic de la maladie jusqu’au suivi régulier du patient, sans oublier le choix des traitements ou les problèmes techniques posés par la multiplication arborescente des altérations moléculaires à rec

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17

Bubolz, Anna-Maria [Verfasser]. "Potentielle klinische Implikationen von BRAF Mutationen in histiozytären Proliferationen / Anna-Maria Bubolz." Ulm : Universität Ulm, 2017. http://d-nb.info/1132713137/34.

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18

Zhao, Wei. "BRAF mutation and aberrant methylation of gene promoters in the pathogenesis of gastrointestinal tract adenocarcinoma /." View the Table of Contents & Abstract, 2006. http://sunzi.lib.hku.hk/hkuto/record/B35880867.

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19

Zhao, Wei, and 趙煒. "BRAF mutation and aberrant methylation of gene promoters in the pathogenesis of gastrointestinal tract adenocarcinoma." Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 2006. http://hub.hku.hk/bib/B36718464.

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20

Wehweck, Laura. "Konkordanz von Mutationen von KRAS und BRAF in Primärtumor und korrespondierender Metastase des kolorektalen Karzinoms." Diss., Ludwig-Maximilians-Universität München, 2013. http://nbn-resolving.de/urn:nbn:de:bvb:19-163009.

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21

Parlow, Laura [Verfasser]. "Vergleich von zwei Methoden zur Detektion aktivierender BRAF V600-Mutationen im malignen Melanom / Laura Parlow." Berlin : Medizinische Fakultät Charité - Universitätsmedizin Berlin, 2017. http://d-nb.info/1128150069/34.

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22

Englisch, Julianna [Verfasser]. "Prävalenz und Heterogenität von KRAS-, BRAF- und PIK3CA-Mutationen in Magenkarzinomen und ihren Metastasen / Julianna Englisch." Düsseldorf : Universitäts- und Landesbibliothek der Heinrich-Heine-Universität Düsseldorf, 2016. http://d-nb.info/1118687795/34.

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23

Guisier, Florian. "Contribution à l'identification de marqueurs de la réponse des carcinomes bronchiques non à petites cellules aux immunothérapies Anti-PD1 immunotherapy for NSCLC with actionable oncogenic driver mutations Janus or Hydra : the many faces of T helper cells in the human tumour microenvironment A rationale for surgical debulking to improve anti-PD1 therapy outcome in non small cell lung cancer Efficacy and safety of anti-PD-1 immunotherapy in pretreated NSCLC patients with BRAF, HER2 or MET mutation or RET-translocation. GFPC 01-2018." Thesis, Normandie, 2019. http://www.theses.fr/2019NORMR148.

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L’immunothérapie par anti-PD1/PD L1 a bouleversé la prise en charge du cancer bronchique non à petites cellules (CBNPC) depuis 2015, offrant notamment la perspective d’un contrôle prolongé de la maladie métastatique. Néanmoins la majorité des patients ne tire pas de bénéfice de ces traitements. Il est donc indispensable d’identifier des biomarqueurs permettant de mieux Sélectionner les patients pour l’immunothérapie. A partir d’un modèle murin de CBNPC, nous avons établi le rôle du volume tumoral comme facteur prédictif de la réponse à un traitement par anti-PD1. La mesure du volume tumoral mé

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Schatz, Daniela. "LNA-clamp-PCR zum sensitiven Nachweis von Punktmutationen im Rahmen der Entwicklung eines Darmkrebsfrüherkennungstests." Phd thesis, Universität Potsdam, 2011. http://opus.kobv.de/ubp/volltexte/2011/5230/.

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Darmkrebs ist die zweithäufigste malignombedingte Todesursache in den westlichen Industrieländern. Durch eine frühzeitige Diagnose besteht jedoch eine hohe Chance auf Heilung. Der Goldstandard zur Darmkrebsfrüherkennung ist gegenwärtig die Koloskopie. Eine Darmspiegelung ist jedoch invasiv und mit Unannehmlichkeiten für den Patienten verbunden. Die Akzeptanz in der Bevölkerung ist daher gering. Ziel des BMBF- Projektes „Entwicklung eines nichtinvasiven Nachweissystems zur Früherkennung von humanem Darmkrebs“, in dessen Rahmen diese Arbeit entstand, ist die Bereitstellung eines nichtinvasiven N

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Obermeyer, Christoph [Verfasser], Michael [Akademischer Betreuer] Ghadimi, and Peter [Akademischer Betreuer] Burfeind. "KRAS- und BRAF-Mutationen im lokal fortgeschrittenen Rektumkarzinom / Christoph Obermeyer. Gutachter: Michael Ghadimi ; Peter Burfeind. Betreuer: Michael Ghadimi." Göttingen : Niedersächsische Staats- und Universitätsbibliothek Göttingen, 2012. http://d-nb.info/1043513191/34.

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26

Albrecht, Heiko [Verfasser], and Guido [Akademischer Betreuer] Sauter. "Genomische Mutationen in hormonrefraktären Prostatakarzinomen am Beispiel von p53, BRAF und c-Kit / Heiko Albrecht. Betreuer: Guido Sauter." Hamburg : Staats- und Universitätsbibliothek Hamburg, 2012. http://d-nb.info/1021499927/34.

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27

Hartleb, Dinah [Verfasser]. "Prävalenz und Heterogenität von KRAS, BRAF und PIK3CA Mutationen in kolorektalen Adenokarzinomen und ihren korrespondierenden Metastasen / Dinah Hartleb." Düsseldorf : Universitäts- und Landesbibliothek der Heinrich-Heine-Universität Düsseldorf, 2016. http://d-nb.info/1099593468/34.

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28

Heux, Pauline. "Différenciation des cellules de la crête neurale lors de l'activation constitutive des protéines NRAS ou BRAF." Thesis, Aix-Marseille, 2017. http://www.theses.fr/2017AIXM0529/document.

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Les mélanocytes sont des cellules productrices de mélanines, à l’origine de la teinte de la peau, des yeux et des cheveux. Elles dérivent d'une population multipotente appelée cellules de la crête neurale, qui génère entre autres également tout le système nerveux périphérique. Une prolifération accrue des précurseurs des mélanocytes durant le développement entraine chez l’homme l’apparition d’un nævus mélanocytaire congénital (NMC). Cette prolifération est due à une mutation somatique au sein d'un de ces précurseurs, dans des gènes de la voie de signalisation des MAP-Kinases, NRAS ou BRAF. Les

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Baiter, Mirjam [Verfasser], Lucie [Akademischer Betreuer] Heinzerling, and Lucie [Gutachter] Heinzerling. "Pathogenetische Bedeutung der Verteilung von BRAF Mutationen bei Patienten mit Melanom / Mirjam Baiter ; Gutachter: Lucie Heinzerling ; Betreuer: Lucie Heinzerling." Erlangen : Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), 2020. http://d-nb.info/1212663829/34.

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Johnson, Benny, Laurence Cooke, and Daruka Mahadevan. "Next generation sequencing identifies ‘interactome’ signatures in relapsed and refractory metastatic colorectal cancer." PIONEER BIOSCIENCE PUBL CO, 2017. http://hdl.handle.net/10150/623288.

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Background: In the management of metastatic colorectal cancer (mCRC), KRAS, NRAS and BRAF mutational status individualizes therapeutic options and identify a cohort of patients (pts) with an aggressive clinical course. We hypothesized that relapsed and refractory mCRC pts develop unique mutational signatures that may guide therapy, predict for a response and highlight key signaling pathways important for clinical decision making. Methods: Relapsed and refractory mCRC pts (N=32) were molecularly profiled utilizing commercially available next generation sequencing (NGS) platforms. Web-based bioi

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Lima, Erika Urbano de. "Detecção da mutação T1799A do gene BRAF em células de carcinoma papilífero obtidas por punção aspirativa com agulha fina." Universidade de São Paulo, 2012. http://www.teses.usp.br/teses/disponiveis/5/5135/tde-27112012-083016/.

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O câncer da tireoide é a neoplasia endócrina mais comum, sendo responsável por cerca de 1 a 2% das neoplasias malignas da tireoide. Atualmente, a patogênese molecular do carcinoma papilífero da tireoide (CPT) tem sido relacionada à ativação aberrante da via de sinalização MAPK, desencadeada por mutações em diversos oncogenes. Destas, a mutação p.V600E do gene BRAF é a mais freqüente, sendo observada em 30%-80% dos casos. Numerosos estudos têm demonstrado que a presença dessa mutação está relacionada a uma maior agressividade do tumor e, conseqüentemente, a um prognóstico menos favorável, torna

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Wehweck, Laura [Verfasser], and Andreas [Akademischer Betreuer] Jung. "Konkordanz von Mutationen von KRAS und BRAF in Primärtumor und korrespondierender Metastase des kolorektalen Karzinoms / Laura Wehweck. Betreuer: Andreas Jung." München : Universitätsbibliothek der Ludwig-Maximilians-Universität, 2013. http://d-nb.info/1045561290/34.

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Touat, Mahdi. "Mécanismes et implications thérapeutiques de l'hypermutation dans les gliomes Mechanisms and Therapeutic Implications of Hypermutation in Gliomas Mismatch Repair Deficiency in High-Grade Meningioma: A Rare but Recurrent Event Associated With Dramatic Immune Activation and Clinical Response to PD-1 Blockade Buparlisib in Patients With Recurrent Glioblastoma Harboring Phosphatidylinositol 3-Kinase Pathway Activation: An Open-Label, Multicenter, Multi-Arm, Phase II Trial Hyman DM. BRAF Inhibition in BRAFV600-Mutant Gliomas: Results From the VE-BASKET Study Glioblastoma Targeted Therapy: Updated Approaches From Recent Biology Successful Targeting of an ATG7-RAF1 Gene Fusion in Anaplastic Pleomorphic Xanthoastrocytoma With Leptomeningeal Dissemination Ivosidenib in IDH1-Mutated Advanced Glioma." Thesis, université Paris-Saclay, 2020. http://www.theses.fr/2020UPASL071.

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Une élévation majeure de la charge mutationnelle (hypermutation) est observée dans certains gliomes. Néanmoins, les mécanismes de ce phénomène et ses implications thérapeutiques notamment concernant la réponse à la chimiothérapie ou à l'immunothérapie sont encore mal connus. Sur le plan du mécanisme, une association entre hypermutation et mutations des gènes de la voie de réparation des mésappariements de l'ADN (MMR) a été rapportée dans les gliomes, cependant la plupart des mutations MMR observées dans ce contexte n'étaient pas fonctionnellement caractérisées, et leur rôle dans le développeme

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Castro, Inês Vieira de. "Oxifilia nas lesões nodulares da tireóide: classificação e relação com marcadores imuno-histoquímicos e mutações nos genes BRAF e RAS e rearranjo PAX8-PPARgama." Universidade de São Paulo, 2006. http://www.teses.usp.br/teses/disponiveis/5/5144/tde-02042007-145821/.

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Uma série de 205 casos de lesões nodulares da tireóide foi revista morfologicamente de acordo com a nova classificação da Organização Mundial da Saúde (OMS, 2004) e analisada quanto à imuno-expressão das citoqueratinas 14 (CK 14) e 19 (CK19) e de citocromo-oxidase. Especial ênfase foi dada à avaliação da oxifilia nos nódulos, valorizando não só a oxifilia clássica (mais de 75% de células oncocíticas), mas também o que aqui chamamos de oxifilia parcial, e ao diagnóstico dos tumores foliculares de potencial incerto de malignidade. Amostras parafinadas dissecadas de carcinomas foram analisados pa

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Linger, Rebecca J. "Novel Roles for 185delAG Mutant BRCA1 in Ovarian Cancer Pathology." Scholar Commons, 2010. http://scholarcommons.usf.edu/etd/3637.

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Familial history is the strongest risk factor for developing ovarian cancer (OC), and a significant contributor to breast cancer risk. Most hereditary breast cancers and OCs are associated with mutation of the tumor suppressor Breast and Ovarian Cancer Susceptibility Gene 1 (BRCA1). Studying risk-associated BRCA1 truncation mutations, such as the founder mutation 185delAG, may reveal signaling pathways important in OC etiology. Recent studies have shown novel BRCA1 mutant functions that may contribute to breast and OC initiation and progression independent of the loss of wtBRCA1. Previously, w

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Monteil, Leheu Michèle. "Anomalies des bras courts du chromosome 17 dans les lymphomes malins : implication du gène p53 : étude dans deux modèles cellulaires et perspectives concernant la pathologie lymphoïde maligne." Grenoble 1, 1993. http://www.theses.fr/1993GRE10010.

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La proteine p53 presente un interet croissant depuis sa decouverte il y a une dizaine d'annees. Elle a d'abord ete identifiee a un produit d'oncogene lie a la transformation cellulaire. Recemment, il a ete montre que cette proteine joue un role tres important dans la cellule et qu'elle serait le produit d'un anti-oncogene. L'objectif de ce travail est d'etudier le gene p53 dans deux modeles cellulaires puis dans un groupe de lymphomes malins presentant des anomalies cytogenetiques des bras courts du chromosome 17, siege de p53. Notre etude comporte deux etapes: l'hybridation in situ sur chromo

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Bruns, Nina Mareike [Verfasser], Anke Claudia [Gutachter] Reinacher-Schick, and Karl-Heinz [Gutachter] Bauer. "Prognostische Bedeutung von KRAS- und BRAF-Mutationen in der Erstlinien-Chemotherapie des metastasierten kolorektalen Karzinoms mit Oxaliplatin und Fluoropyrimidinen / Nina Mareike Bruns ; Gutachter: Anke Claudia Reinacher-Schick, Karl-Heinz Bauer ; Medizinische Fakultät." Bochum : Ruhr-Universität Bochum, 2013. http://d-nb.info/1202605427/34.

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Hrabcová, Veronika. "BRAF mutace u metastazujícího maligního melanomu." Master's thesis, 2013. http://www.nusl.cz/ntk/nusl-325198.

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Bc.Veronika Hrabcová BRAF mutations in metastatic malignant melanoma. Diploma thesis Charles University in Prague, Faculty of Pharmacy in Hradec Králové Healthcare bioanalytics - Specialist in Laboratory Methods Backround: Melanoma is malignant disease with increasing incidency. Treatment of advanced stage of melanoma is still limited. With a progress of knowledge in genetics and tumorigenesis, the incidence of mutated BRAF protein was observed at 50 % of melanomas. In 80-90 % mutated melanomas contain BRAF V600E mutation. The aim of study was to establish a suitable molecular biological metho

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Vilain, Ricardo Enrique. "Activating kinase mutations in melanoma." Thesis, 2013. http://hdl.handle.net/1959.13/1036324.

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Research Doctorate - Doctor of Philosophy (PhD)<br>The treatment of patients with metastatic melanoma has been revolutionized by the discovery of crucial activating kinase mutations, making melanoma susceptible to targeted kinase inhibition. The result is that melanoma, once a notoriously treatment resistant malignancy, has become the poster child for the promise of personalized cancer therapy. We have sought to identify what the incidence of various kinase mutations are in a group of 192 melanoma patients, sampled from a population that harbors one of the highest rates of melanoma in the worl

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Chen, Jing-Jung, and 陳俊蓉. "The Possible Therapeutic Strategy for Colorectal Cancer with KRAS/BRAF Mutations." Thesis, 2012. http://ndltd.ncl.edu.tw/handle/vgp99z.

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碩士<br>國立臺北科技大學<br>生物科技研究所<br>100<br>Colorectal cancer (CRC) is the most common human malignancies in Taiwan, with incidences of 10 thousand people per year. A number of studies suggested that blocking abnormal cell proliferation by inhibiting the MAPK(mitogen-activated protein kinase) pathway could be a promising treatment method for CRC. Target drug “cetuximab”, an epidermal growth factor (EGF) competitor which inhibit cell proliferation has been shown to improve the survival rate. Earlier reports indicated that mutations in the genes such as KRAS and BRAF which are downstream of the EGFR lea

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Lu, Pei-Hsuan, and 呂佩軒. "Assessment of activating mutations of FGFR2-RAS-BRAF and SMO in ameloblastoma." Thesis, 2017. http://ndltd.ncl.edu.tw/handle/nxxm87.

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碩士<br>國立臺灣大學<br>臨床牙醫學研究所<br>105<br>Ameloblastoma is a benign neoplasm, and is the most prevalent amongst epithelial odontogenic neoplasm. Due to its locally aggressive behavior and the high risk of recurrence, surgical resection which results in facial deformity and significant morbidity is often needed in the treatment of ameloblastoma. However, in the past three years, several studies bring some insight into the molecular pathogenesis of ameloblastoma and the development of molecule-targeted therapy is foreseeable. Recent research have shown frequent MAPK (FGFR-RAS-RAF) pathway and SMO mutat

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Huang, Sih Wei, and 黃斯維. "Development and application of highly sensitive methods for detecting of BRAF and PIK3CA gene mutations." Thesis, 2013. http://ndltd.ncl.edu.tw/handle/50588203634391306585.

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碩士<br>長庚大學<br>醫學生物技術暨檢驗學系<br>101<br>Colorectal cancer (CRC) is a malignant disease with high prevalence and high mortality worldwide. During CRC progression and metastasis, genes mutation plays an important role. Mutations in genes of epidermal growth factor receptor (EGFR) signaling pathway are common in CRC. These mutated genes include EGFR, KRAS, BRAF, and PIK3CA. Furthermore, these gene mutations also affect the efficiency of EGFR targeted therapy. Therefore it is important to establish a rapid and convenient detection methods for these mutations. This study used peptide nucleic acid (PNA)

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Greene, Victoria R. Ellerhorst Julie Piller Linda Beth Diamond Pamela M. "NRAS and BRAF mutations in primary cutaneous melanoma : a comparison of mutation rates between radial and vertical growth phases in individual tumors." 2007. http://gateway.proquest.com/openurl?url_ver=Z39.88-2004&rft_val_fmt=info:ofi/fmt:kev:mtx:dissertation&res_dat=xri:pqdiss&rft_dat=xri:pqdiss:1444902.

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Thesis (M.P.H.)--University of Texas Health Science Center at Houston, School of Public Health, 2007.<br>Source: Masters Abstracts International, Volume: 46-01, page: 0342. Adviser: Julie Ellerhorst. Includes bibliographical references.

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Hsieh, Li-Ling, and 謝麗鈴. "High-Resolution Melting Analysis for Rapid Detection of BRAF and PIK3CA Gene Mutations in Colorectal Cancer." Thesis, 2011. http://ndltd.ncl.edu.tw/handle/47701699472255969206.

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碩士<br>高雄醫學大學<br>醫學研究所<br>99<br>Epidermal growth factor receptor (EGFR) monoclonal antibody therapy is established in patients with wild-type KRAS colorectal cancer ; however, up to 50% of these patients do not respond to this therapy. To identify the possible causes of this treatment failure, we searched for mutations of several oncogenes involving in the EGFR-dependent signaling pathways. In this study, high resolution melting analysis (HRMA) was used to screen hot-spot mutations in the BRAF and PIK3CA genes in 182 colorectal cancer specimens. Direct sequencing was used to confirm HRMA result

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Nourizadeh, Alireza. "APC, BRAF and KRAS mutations, and MLH1, MGMT and CDKN2A expression analysis in Nepalese colorectal cancer patients. : -." Thesis, 2017. http://urn.kb.se/resolve?urn=urn:nbn:se:his:diva-15719.

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Colorectal cancer (CRC) is a common malignancy which develops due to old age and lifestyle factors, low percent of patients afflicted by a genetic disorders. Half of all colorectal cancer patients are diagnosed after metastasis. The high rate of the late detection, emphasizes on the requirement of convenient and inexpensive diagnostic methods for comprehensive screening programs. The aim of this study was to discover proto-oncogenes mutation and assessment of tumor suppressor genes expression. Formalin fixed paraffin embedded (FFPE) histologically verified colorectal cancer samples were used.

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Roma, André Emanuel Serra. "Modulation of colorectal cancer stem cell pool and its crosstalk with tumor microenvironment by KRas, BRaf, and PIK3CA mutations." Master's thesis, 2016. http://hdl.handle.net/10316/40666.

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Dissertação de mestrado em Investigação Biomédica, especialização em oncologia, apresentada à Faculdade de Medicina da Universidade de Coimbra<br>Colorectal cancer (CRC) is one of the most common cancers worldwide and its evolution is associated with multiple and progressive mutations. Although KRas mutations have been associated with modulation of cancer stem cell (CSC) properties within the tumour, and therefore affecting tumour progression, other frequent mutations in BRaf and PIK3CA are still to be associated to stemness modulation in CRC. Along the years, different CSC markers have b

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Pláničková, Lenka. "Vývoj a validace nové metodiky pro obohacení a detekci cirkulující nádorové DNA u onkologických pacientů." Master's thesis, 2017. http://www.nusl.cz/ntk/nusl-368039.

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Tumors are one of the leading causes of death worldwide. Generally, the prognosis is better if the treatment begins at an early stage. Nowadays, the conventional chemotherapy treatment of cancer, known for its limited efficacy and side effects, is being gradually replaced by targeted biological treatment, which is used when specific genetic mutations are found. A part of the treatment is a detection of a potential progression, which is mainly based on the tumor biomarkers monitoring. Currently, further investigation of a so-called liquid biopsy method are ongoing, on which this thesis is focus

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Salvatore, Giuliana. "Braf mutation in thyroid carcinoma: diagnostic and therapeutic implications." Tesi di dottorato, 2007. http://www.fedoa.unina.it/2359/1/Salvatore_Oncologia.pdf.

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Obermeyer, Christoph. "KRAS und BRAF Mutationen im lokal fortgeschrittenen Rektumkarzinom." Doctoral thesis, 2012. http://hdl.handle.net/11858/00-1735-0000-000D-EFC4-7.

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Chen, Yu-Li, and 陳育麗. "Analysis of BRAF gene mutation in lung cancer and esophageal cancer." Thesis, 2006. http://ndltd.ncl.edu.tw/handle/92439551944724061778.

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碩士<br>國立中山大學<br>生物科學系研究所<br>94<br>The RAF-MEK-ERK is an important signaling pathway that controls cellular proliferation, differentiation and survival. Recent reports indicate that R-RAF is mutated at a high frequency in human cancer. The mutations are clustered in the glycine-rich loop and activation segment which are encoded by exon 11 and exon 15, respectively. Among these mutations, V600E is the most prevalent found in varieties of human cancers, include melanoma and thyroid carcinomas. In this thesis, we analyzed 86 human cancer specimens, including 62 lung cancers and 24 esophageal cance

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