Relevant bibliographies by topics / Mutation BRAFV600E

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Academic literature on the topic 'Mutation BRAFV600E'

Author: Grafiati
Published: 20 April 2024

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Journal articles on the topic "Mutation BRAFV600E"

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Lee, Min Hee, Seong Eun Lee, Dong Wook Kim, Min Jeong Ryu, Sung Jin Kim, Sung Joong Kim, Yong Kyoung Kim, et al. "Mitochondrial Localization and Regulation of BRAFV600E in Thyroid Cancer: A Clinically Used RAF Inhibitor Is Unable to Block the Mitochondrial Activities of BRAFV600E." Journal of Clinical Endocrinology & Metabolism 96, no. 1 (January 1, 2011): E19—E30. http://dx.doi.org/10.1210/jc.2010-1071.

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Context: The oncogenic BRAFV600E mutation results in an active structural conformation characterized by greatly elevated ERK activity. However, additional cellular effects caused by subcellular action of BRAFV600E remain to be identified. Objective: To explore these effects, differences in the subcellular localization of wild-type and mutant BRAF in thyroid cancer were investigated. Results: A significant proportion of endogenous and exogenous BRAFV600E, but not wild-type BRAF, was detected in the mitochondrial fraction, similar to other BRAF mutants including BRAFV600D, BRAFV600K, BRAFV600R, and BRAFG469A, which showed elevated kinase activity and mitochondrial localization. Induced expression of BRAFV600E suppressed the apoptotic responses against staurosporine and TNFα/cycloheximide. Interestingly, the mitochondrial localization and antiapoptotic activities of BRAFV600E were unaffected by sorafenib and U0126 suppression of MAPK kinase (MEK) and ERK activities. Similarly, although the RAF inhibitor sorafenib effectively inhibited MEK/ERK activation, it did not block the mitochondrial localization of BRAFV600E. In addition, inducible expression of BRAFV600E increased the glucose uptake rate and decreased O2 consumption, suggesting that BRAFV600E reduces mitochondrial oxidative phosphorylation, a signature feature of cancer cells. Again, these metabolic alterations resulted by BRAFV600E expression were not affected by the treatment of thyroid cells by sorafenib. Therefore, RAF and MEK inhibitors are unable to block the antiapoptotic activity of BRAFV600E or correct the high glucose uptake rate and glycolytic activity and suppressed mitochondrial oxidative phosphorylation induced by BRAFV600E. Conclusions: The mitochondrial localization observed in oncogenic BRAF mutants might be related to their altered responses to apoptotic stimuli and characteristic metabolic phenotypes found in thyroid cancer. The inability of MEK and RAF inhibitors, U0126 and sorafenib, respectively, to block the mitochondrial localization of BRAFV600E has additional therapeutic implications for BRAFV600E-positive thyroid cancers.
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Sahm, Felix, David Capper, Matthias Preusser, Jochen Meyer, Albrecht Stenzinger, Felix Lasitschka, Anna-Sophie Berghoff, et al. "BRAFV600E mutant protein is expressed in cells of variable maturation in Langerhans cell histiocytosis." Blood 120, no. 12 (September 20, 2012): e28-e34. http://dx.doi.org/10.1182/blood-2012-06-429597.

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AbstractLangerhans cell histiocytosis (LCH) is a clinically and histologically heterogeneous disorder. Its classification as either reactive inflammatory or neoplastic has been a matter of debate. However, the recent finding of frequent BRAFV600E mutations in LCH argues for the latter. The exact cell type that harbors the mutation and is responsible for proliferation remains to be identified. We here apply a BRAFV600E mutation-specific antibody to detect the BRAF mutant cells in lesions from 89 patients with LCH. We found BRAFV600E mutations in 34 of 89 (38%) lesions. In lesions with the BRAFV600E mutation, the majority of cells coexpressing S-100 and CD1a harbored mutant BRAFV600E protein. These cells also expressed CD14 and CD36, whereas various fractions exhibited CD207. On the other hand, CD80 and CD86 expression was also present on BRAFV600E-positive cells. Thus, cells of variable maturation, exhibiting an immunohistochemical profile compatible either with myeloid cell or with dedifferentiated Langerhans cell antigens, carry the BRAFV600E mutation. In conclusion, we identify and characterize the neoplastic cells in LCH with BRAFV600E mutations by applying a mutation-specific marker and demonstrate feasibility for routine screening.
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Chakraborty, Dhritiman, Sunil Shakya, Sanjana Ballal, Shipra Agarwal, and Chandrasekhar Bal. "BRAFV600E and TERT promoter mutations in paediatric and young adult papillary thyroid cancer and clinicopathological correlation." Journal of Pediatric Endocrinology and Metabolism 33, no. 11 (November 26, 2020): 1465–74. http://dx.doi.org/10.1515/jpem-2020-0174.

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AbstractObjectivesThe primary objective of this study was to determine the prevalence of BRAFV600E and TERTpromoter mutations in paediatric and young adult patients with papillary thyroid carcinoma (PTC) and the secondary objective, to assess their association with clinicopathological features.MethodsPatients ≤20 years who underwent surgery for differentiated thyroid cancer (DTC) from 2005 to 2018 were consecutively enrolled for BRAFV600E and TERTpromoter mutations analysis and records analysed for the association of aggressive features. Univariate analysis and multivariate logistic regression were used to identify the independent predictors of BRAFV600E mutations.ResultsAmong 100 patients with DTC, 68 patients were ≤18 years and the remaining 30 patients were >18 years of age with a median age of 17 years (IQR 14–19 years) 98 patients had PTC and 2 had FTC. BRAFV600E mutation was present in 14/98 (14.3%) PTC and TERTpromoter mutation noted in none. Multivariate analysis identified RAI refractoriness (OR:10.57, 95% CI: 2.6 to 41.6, P-0.0008) as an independent factor associated with BRAFV600E mutation. 17 patients with distant metastases were negative for both BRAFV600E or TERTpromoter mutation. No significant association was observed between age, gender, PTC variants, extra-thyroidal extension, lymphovascular invasion, multifocality, RAI administration and event rate with BRAFV600E mutation. Irrespective of BRAFV600E mutation, radioiodine refractory status (p-0.0001) had a reduced EFS probability.ConclusionIn paediatric & young adult PTC, TERTpromoter mutation is absent and BRAFV600E mutation is not associated with distant metastasis. The prevalence rate of the BRAFV600E mutation is much lower compared to adult PTC patients.
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Diamond, Eli L., Benjamin Durham, Ahmet Dogan, Mariko Yabe, Kseniya Petrova-Drus, Raajit K. Rampal, Raajit K. Rampal, et al. "Phase 2 Trial of Single-Agent Cobimetinib for Adults with Histiocytic Neoplasms." Blood 142, Supplement 1 (November 28, 2023): 1812. http://dx.doi.org/10.1182/blood-2023-187508.

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Background: Histiocytic neoplasms (HN) are clonal hematopoietic disorders characterized by diverse mutations in the mitogen-activated protein kinase (MAPK) pathway. BRAF inhibition is highly effective for patients with HN harboring the BRAFV600E mutation, and implementation of BRAF inhibitors transformed management of BRAFV600E-mutated Erdheim-Chester disease (ECD) and Langerhans cell histiocytosis (LCH). No standard or approved therapies existed, however, for patients with HN lacking the BRAFV600E mutation. Efficacy of mitogen-activated protein kinase (MEK) inhibition for HN harboring various MAPK pathway mutations has been observed in case reports and series. We present here results from 26 patients treated in a phase 2 trial of single-agent cobimetinib for adults with HN (NCT02649972). The data were submitted to the Food and Drug Administration (FDA) in a supplemental new drug application for cobimetinib, and FDA approval was granted in October, 2022. Methods: This is an open-label phase 2 trial of cobimetinib 60mg daily for patients with (1) BRAFV600-wildtype (wt) histiocytosis or (2) BRAFV600-mutant histiocytosis intolerant or without access to BRAF inhibitor therapy. Eligible patients were age 16 or older, had histologic confirmation of HN diagnosis, ECOG 0 to 3, multi-system HN or HN refractory to conventional (i.e. chemotherapeutic or immunosuppressive) therapy or single-system HN deemed unlikely to benefit from conventional therapy, and with disease measurable by positron emission tomography (PET) Response Criteria (PRC). Patients were eligible with any tumor mutation or with no identified tumor mutation. The primary endpoint was overall response rate (complete metabolic response + partial metabolic response; ORR) by PRC. Secondary endpoints included safety (CTCAE 4.0), duration of response (DoR) and progression-free survival (PFS) as determined by modified PERCIST, overall survival (OS), and response rate by RECIST. Data cut-off was March 28, 2019 for efficacy evaluation, and safety follow-up cut-off was September 28, 2019. Results: Twenty-six patients (13 ECD, with Rosai-Dorfman disease [RDD], 4 with LCH, 2 with juvenile xanthogranuloma [JXG], 3 with mixed histiocytosis) with a median age of 50.5 were analyzed. Six patients had BRAFV600E-mutant disease, one of these with additional mutations in KRAS and NRAS. Of the remaining 20, 15 had non-BRAFV600 MAPK pathway mutations (4 KRAS [one of them with ARAF mutation as well], 6 MEK1, 1 MEK2, 1 RAF1, 1 ARAF, 2 non-V600 BRAF mutations, and 5 had no mutation identified). Twenty-six patients were evaluable for safety, 24 for PRC, 19 for RECIST. Response rates are listed in Table 1 and PRC responses are presented in Figure 1. The ORR by PRC was 83.3% (95% CI 62.62-95.26), in the PRC-evaluable population. Responses were observed across MAPK mutations, histiocytosis subtypes and tumor genotypes. By BRAFV600 status, in PRC-evaluable population, the ORR for BRAFV600E-mutant disease was 100% (95% CI 47.82-100), and for BRAFV600-wt disease was 78.9% (95% CI 54.43-93.95). Median DoR was 31.1 months (95% CI 16.8-NE) in the PRC-evaluable population. ORR by RECIST was 63.2% (95% CI 38.36-83.71), in the RECIST-evaluable population. Three patients died on study, none related to cobimetinib. Grade 3 or 4 toxicities in >10% of patients included decreased lymphocyte count (19%), increased blood creatine phosphokinase (12%), decreased ejection fraction (12%), hypokalemia (12%), hyponatremia (12%), acute kidney injury (12%) and dyspnea (12%). Conclusions: Cobimetinib demonstrates robust efficacy in HN irrespective of underlying MAPK pathway mutation, including BRAF-wt and BRAFV600-mutant HN. Safety of cobimetinib in this patient population was consistent with the known safety profile.
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Song, Eyun, Meihua Jin, Ahreum Jang, Min Ji Jeon, Dong Eun Song, Hye Jin Yoo, Won Bae Kim, Young Kee Shong, and Won Gu Kim. "Mutation in Genes Encoding Key Functional Groups Additively Increase Mortality in Patients with BRAFV600E-Mutant Advanced Papillary Thyroid Carcinoma." Cancers 13, no. 22 (November 22, 2021): 5846. http://dx.doi.org/10.3390/cancers13225846.

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The prognosis of BRAFV600E-mutant papillary thyroid carcinoma (PTC) ranges from indolent to highly aggressive courses. To better define the genetic diversity of this subtype, we evaluated the survival according to the presence of an additional mutation in genes encoding functional groups (FGs) in BRAFV600E-mutant advanced PTC patients. Targeted next-generation sequencing was performed in primary tumors of 50 BRAFV600E-mutant PTCs with distant metastasis or aggressive variants. The mutation in genes encoding FGs included alterations in histone methyltransferases, SWI/SNF subunit, and the PI3K/AKT/mTOR pathway. The primary outcome was overall survival (OS). Fifteen patients only had the BRAFV600E-mutation (group 1), 22 had BRAFV600E and mutation other than FGs (group 2), and 13 had BRAFV600E and FG mutation (group 3). OS was significantly lower in patients with FG mutations (p = 0.001) than those without, and group 3 patients had the worst survival (p = 0.004). OS significantly varied among none, one, or two FG mutation sites (p = 0.005). Presence of FG mutation was independently associated with increased mortality (hazard ratio 11.65, 95% confidence interval 1.39–97.58, p = 0.024). Coexistence of mutations in BRAFV600E and genes encoding FGs was associated with high mortality. Identification of FG mutation in BRAFV600E-mutant PTCs may be valuable in risk stratifying this subtype.
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Kaneko, Masanao, Mitsuko Nakashima, Kiichi Sugiura, Natsuki Ishida, Satoshi Tamura, Shinya Tani, Mihoko Yamade, et al. "Both MLH1 deficiency and BRAFV600E mutation are a unique characteristic of colorectal medullary carcinoma: An observational study." Medicine 102, no. 38 (September 22, 2023): e35022. http://dx.doi.org/10.1097/md.0000000000035022.

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Although immunohistochemistry (IHC) for mismatch repair (MMR) proteins (MMR IHC) is used to identify DNA MMR status, universal screening of all patients with colorectal cancer (CRC) using a combination of both MMR IHC and genetic testing for the BRAFV600E mutation is limited in Japan. This study aimed to better understand the histopathological characteristics of CRCs, which exhibit both deficient mismatch repair (dMMR) and BRAFV600E mutation. MMR IHC of formalin-fixed paraffin-embedded tissues from tumor areas obtained from 651 patients with CRC who underwent surgical resection at Hamamatsu University Hospital (Hamamatsu, Japan) between August 2016 and March 2022 were used to evaluate MMR status, which was determined by staining for the expression of 4 MMR proteins (MLH1, MSH2, PMS2, and MSH6). All dMMR tumors were additionally evaluated for BRAFV600 mutation status via Sanger sequencing. Patient clinical characteristics (age, sex, tumor location, size, and tumor pathology) were then classified using their dMMR and BRAFV600 mutation statuses. Among the 651 patients with CRC, 58 carried tumors with dMMR, of which 52 were deficiency in MLH1 (dMLH1). Interestingly, all 16 medullary carcinomas that were analyzed showed characteristics corresponding to the presence of both dMLH1 and BRAFV600E mutation (P = .01). These results suggest that colorectal medullary carcinomas can be diagnosed based on their unique characteristics of harboring the BRAFV600E mutation and exhibiting dMLH1 expression.
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Ascierto, Paolo A., David Minor, Antoni Ribas, Celeste Lebbe, Anne O'Hagan, Niki Arya, Mary Guckert, et al. "Phase II Trial (BREAK-2) of the BRAF Inhibitor Dabrafenib (GSK2118436) in Patients With Metastatic Melanoma." Journal of Clinical Oncology 31, no. 26 (September 10, 2013): 3205–11. http://dx.doi.org/10.1200/jco.2013.49.8691.

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Purpose Dabrafenib (GSK2118436) is a potent inhibitor of mutated BRAF kinase. Our multicenter, single-arm, phase II study assessed the safety and clinical activity of dabrafenib in BRAFV600E/K mutation–positive metastatic melanoma (mut+ MM). Patients and Methods Histologically confirmed patients with stage IV BRAFV600E/K mut+ MM received oral dabrafenib 150 mg twice daily until disease progression, death, or unacceptable adverse events (AEs). The primary end point was investigator-assessed overall response rate in BRAFV600E mut+ MM patients. Secondary end points included progression-free survival (PFS) and overall survival (OS). Exploratory objectives included the comparison of BRAF mutation status between tumor-specific circulating cell-free DNA (cfDNA) and tumor tissue, and the evaluation of cfDNA as a predictor of clinical outcome. Results Seventy-six patients with BRAFV600E and 16 patients with BRAFV600K mut+ MM were enrolled onto the study. In the BRAFV600E group, 45 patients (59%) had a confirmed response (95% CI, 48.2 to 70.3), including five patients (7%) with complete responses. Two patients (13%) with BRAFV600K mut+ MM had a confirmed partial response (95% CI, 0 to 28.7). In the BRAFV600E and BRAFV600K groups, median PFS was 6.3 months and 4.5 months, and median OS was 13.1 months and 12.9 months, respectively. The most common AEs were arthralgia (33%), hyperkeratosis (27%), and pyrexia (24%). Overall, 25 patients (27%) experienced a serious AE and nine patients (10%) had squamous cell carcinoma. Baseline cfDNA levels predicted response rate and PFS in BRAFV600E mut+ MM patients. Conclusion Dabrafenib was well tolerated and clinically active in patients with BRAFV600E/K mut+ MM. cfDNA may be a useful prognostic and response marker in future studies.
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Morris, Van K., Kanwal Pratap Singh Raghav, Arvind Dasari, Michael J. Overman, Bryan K. Kee, Benny Johnson, Christine Megerdichian Parseghian, et al. "Utility of circulating tumor DNA in the clinical management of patients with BRAFV600E metastatic colorectal cancer." Journal of Clinical Oncology 39, no. 3_suppl (January 20, 2021): 119. http://dx.doi.org/10.1200/jco.2021.39.3_suppl.119.

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119 Background: Molecular profiling is critical for oncologists in personalizing treatment decisions for patients (pts) with metastatic colorectal cancer (mCRC). In contrast to archival tumor tissue specimens classically used profiling, sequencing of circulating tumor DNA (ctDNA) is more sensitive at quantifying low mutation allele frequencies and characterize “real time” tumor biology. We assessed the relationship between detection of BRAFV600E mutations in ctDNA and the clinical management of pts with mCRC. Methods: We retrospectively analyzed mCRC patients evaluated at MD Anderson Cancer Center with BRAFV600E mutations on ctDNA. ctDNA was isolated and sequenced for somatic mutations using a 70-gene next-generation sequencing assay (MD Anderson/GuardantHealth LB70 panel). Variant allele frequency (VAF) was characterized as the ratio of mutant reads: total reads for a given gene. BRAFV600E mutations were classified as “clonal” if the relative VAF (rVAF) exceeded 50% of the maximum VAF. “Major” and “minor” subclonal mutations were called for a rVAF of 10-50% and < 10%, respectively. Associations between BRAFV600E clonality and treatment decision were performed using a Fisher’s exact test. Survival outcomes were estimated using the Kaplan-Meier method. Results: 64 patients with mCRC had a BRAFV600E mutation detected in ctDNA. Concordance between tissue and ctDNA for BRAFV600E mutation was occurred in 44/55 (80%) patients with evaluable tumor specimen. There were 9 patients with BRAFV600E mutations identified in the absence of evaluable tumor tissue. Median VAF for BRAFV600E in the ctDNA was 3.6% (interquartile range, 0.50 – 17%). The majority of patients had a clonal BRAFV600E mutation (50/64, 78%). There were 3 (5%) and 11 (17%) patients with major subclonal and minor subclonal BRAFV600E mutations, respectively. Among patients with minor subclonal BRAFV600E mutations, 91% (10/11) had developed resistance to anti-EGFR therapies for management of RASwild-type mCRC. Discordance between tissue and ctDNA BRAFV600E status was associated with minor subclones (odds ratio (OR) 56, p < .0001). Clonal BRAFV600E mutations in the ctDNA were associated with a higher likelihood for treatment with BRAF targeted therapies (OR 5.8, p = .008). Median progression-free survival among 37 evaluable patients was 6.4 months. Conclusions: Reported VAF in the ctDNA served to stratify BRAFV600E according to relative clonality. Lower VAF was linked to acquired resistance to anti-EGFR therapies, whereas higher VAF was associated with receipt of matched targeted therapies for BRAFV600E mCRC. ctDNA technologies for identifying BRAFV600E mutations are feasible and informative for conducting relevant molecular profiling for patients with mCRC.
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Smyrk, Thomas C., David Tougeron, Stephen N. Thibodeau, Shalini Singh, Andrea Muranyi, Kandavel Shanmugam, Thomas M. Grogan, Steven R. Alberts, Qian Shi, and Frank A. Sinicrope. "Detection of the BRAFV600E protein in human colon carcinomas by a mutation-specific antibody." Journal of Clinical Oncology 31, no. 15_suppl (May 20, 2013): 3576. http://dx.doi.org/10.1200/jco.2013.31.15_suppl.3576.

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3576 Background: BRAF encodes a serine-threonine kinase that is a downstream effector of activated RAS. A point mutation (V600E) in BRAF occurs in a subset of colorectal cancers (CRCs) and is associated with adverse outcome and may predict non response to anti-EGFR antibodies. Detection of a BRAFV600E mutation in a CRC with microsatellite instability indicates a sporadic origin and excludes Lynch Syndrome. While BRAFV600E mutation status is determined using a DNA-based assay, antibodies against the BRAFV600E protein have recently been developed. We examined mutant BRAFV600E protein expression and its concordance with mutation status. Methods: Primary stage III colon carcinomas (50 BRAFV600E mutation carriers and 25 wild-type cases) were studied from a completed phase III adjuvant trial comparing FOLFOX +/- cetuximab (NCCTG N0147). In archival resection specimens, immunohistochemistry (IHC) was performed using a pan-BRAF antibody and a V600E mutation-specific antibody raised against an immunogenic synthetic peptide derived from the internal region of the BRAFV600E protein. BRAFV600E mutations in codon 15 were analyzed in extracted DNA using a multiplex, allele specific PCR–based assay. BRAF staining was scored independently by two pathologists blinded to mutation status. Results: In primary colon carcinomas stained with a pan-BRAF antibody, diffuse cytoplasmic staining for BRAF proteins was detected in 74 of 75 carcinomas with one case deemed non-evaluable. Using the mutation-specific BRAFV600E antibody, diffuse cytoplasmic staining was detected in 49 of 74 tumors without appreciable heterogeneity of expression. Among these 49 tumors expressing mutant BRAFV600E proteins, all (100%) were found to carry a BRAFV600E mutation according to a DNA-based assay. In contrast, absent BRAFV600E staining was observed in all 25 tumors that were found to have wild-type copies of BRAFV600E detected using a PCR-based assay. Conclusions: For the detection of mutant BRAFV600E, complete concordance was found between IHC and a DNA-based method in colon carcinomas. This finding supports the use of IHC as a simplified strategy to screen CRCs for mutant BRAFV600E proteins in routine clinical practice to inform clinical decision-making.
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Choi, Yun-Suk, Seong-Woon Choi, and Jin-Wook Yi. "Prospective Analysis of TERT Promoter Mutations in Papillary Thyroid Carcinoma at a Single Institution." Journal of Clinical Medicine 10, no. 10 (May 18, 2021): 2179. http://dx.doi.org/10.3390/jcm10102179.

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Background: Papillary thyroid cancer (PTC) has the highest cancer incidence in Korea. It is known that some thyroid cancers have aggressive clinical behavior and a poor prognosis. Genomic studies have described some somatic mutations that are related to the aggressive features of thyroid cancer, such as the BRAFV600E mutation. Recently, TERT promoter mutations were identified and reported as poor prognostic factors in PTC. Our aim was to identify the frequency and clinical impact of TERT promoter mutation in PTC. Methods: Analysis of both BRAFV600E and TERT promoter mutations in thyroidectomy specimens began in February 2019. As of December 2020, 622 patients had been tested. Data were prospectively collected and retrospectively reviewed to ascertain clinical and pathologic variables. Results: TERT promoter mutations were identified in 13 patients (2.09%); 12 had the C228T mutation, and one had the C216T mutation. In total, ten patients had the BRAFV600E mutation. TERT promoter mutation was significantly associated with advanced age (46.795 ± 12.616 versus 65.692 ± 13.628 years, p < 0.001), large tumor size (1.006 ± 0.829 versus 2.285 ± 1.938 cm, p = 0.035), extrathyroidal extension, surgical margin involvement, angioinvasion, BRAFV600E mutation and advanced TNM stage, a higher MACIS score and a high proportion of radioactive iodine therapy application. Logistic regression showed that lymphatic and angioinvasion and BRAFV600E mutation were predictive of TERT promoter mutation. Conclusions: Our study is the first to report the prospective results of TERT promoter mutations at a single tertiary hospital in Incheon, Korea. PTC with TERT promoter mutation was associated with more aggressive behavior than PTC with wild-type TERT gene status.
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Dissertations / Theses on the topic "Mutation BRAFV600E"

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Radom, Mickaëlle. "Rôle de la NADPH oxydase 4 (NOX4) dans la dédifférenciation des cellules tumorales thyroïdiennes porteuses de la mutation BRAFV600E." Electronic Thesis or Diss., université Paris-Saclay, 2024. http://www.theses.fr/2024UPASL012.

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La radiothérapie métabolique à l’iode 131 (RMI) constitue le traitement principal des cancers différenciés de la thyroïde (CDT). Cette thérapie métabolique est basée sur l’expression à la membrane basale des cellules thyroïdiennes, du transporteur de l’iode (NIS) codé par le gène SLC5A5. La mutation driver BRAFV600E est présente dans 40 à 60% des CDTs. Les cancers papillaires de la thyroïde (CPTs) localement avancés et métastatiques arborant cette mutation sont de faible pronostic. BRAFV600E est un puissant activateur de la signalisation MAPK conduisant à un processus de dé-différenciation associé à la répression du gène SLC5A5 et à la résistance à la RMI. La captation de l’iode constitue un challenge majeur pour le traitement des patients. Une nouvelle approche thérapeutique consiste en une stratégie de re-différenciation des cellules thyroïdiennes. Nos études précédentes ont montré́ que BRAFV600E contrôle l’expression de la NADPH oxydase (NOX4) et que les ROS générées par cette dernière répriment le gène SLC5A5. L’inhibition de NOX4 ré-induit l’expression du NIS et cette réversibilité́ suggère une contribution à un mécanisme épigénétique. L’objectif de la thèse était de déterminer les évènements moléculaires et mécanistiques induits par NOX4 qui contribuent à la répression des gènes impliqués dans la différenciation thyroïdienne et dans l’efficacité́ de la radiothérapie métabolique. Nos résultats montrent que NOX4 génère des dommages oxydatifs à l’ADN, lesquels favorisent la rétention d’acteurs épigénétiques tels que les DNMTs via une interaction avec les protéines de réparation de l’ADN, perturbant ainsi la fixation à l’ADN des facteurs de transcription de la différenciation thyroïdienne PAX8 et NKX2.1, et empêchant la transcription de gènes de manière prolongée. Nous démontrons aussi un effet des inhibiteurs de BRAF/MEK utilisés en clinique sur le mécanisme épigénétique dépendant de NOX4 et un intérêt clinique de l’inhibition de cette dernière conjointement à l’inhibition de BRAF/MEK dans la réexpression des gènes de la différenciation thyroïdienne
The radioiodine therapy (RAI) constitutes the main treatment for differentiated thyroid cancer (DTC). This metabolic radiotherapy is based on the expression at thyroid cell basal membrane of the iodine transporter (NIS) encoded by SLC5A5 gene. BRAFV600E oncogene driver mutation is present in 40 to 60% of DTC. Locally advanced and metastatic papillary thyroid cancer (PTC) harboring BRAFV600E mutation have poor prognosis. BRAFV600E oncogene is a strong activator of MAPK signaling leading to a dedifferentiation process, which is associated with SLC5A5 gene repression and radioiodine therapy refractoriness. The RAI uptake constitutes a major challenge for treatment of patients and in this sense a new therapeutic approach consists of thyroid cell redifferentiation strategy. Our previous studies showed that BRAFV600E controls the NADPH oxidase (NOX4) expression and NOX4- derived ROS repress SLC5A5 gene. NOX4 inhibition reinduces NIS expression and the reversibility suggests a contribution to an epigenetic mechanism. The objective of the thesis was to determine the molecular and mechanistic events induced by NOX4-derived ROS that contribute to the repression of genes involved in differentiation process and in the efficiency of metabolic radiotherapy. Our results showed that NOX4 generates specific oxidative damage to DNA, which promotes the retention of epigenetic actors such as DNMTs through interaction with DNA repair proteins, thereby disrupting the DNA binding of thyroid differentiation transcription factors, PAX8 and NKX.2.1, and preventing gene transcription for prolonged periods. We also demonstrated an effect of BRAF/MEK inhibitors used clinically in NOX4- dependant epigenetic mechanism and a clinical interest of NOX4 inhibition in addition to BRAF/MEK inhibition in thyroid differentiation gene reinduction
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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 développement d’hypermutation restait de ce fait incertain. De plus, l'impact de l'hypermutation sur l'immunogénicité des cellules gliales et sur leur sensibilité au blocage des points de contrôles immunitaires (par exemple par traitement anti-PD-1) n’est pas connu. Dans cette étude, nous analysons de manière exhaustive les déterminants cliniques et moléculaires de la charge et des signatures mutationnelle dans 10 294 gliomes, dont 558 (5,4%) tumeurs hypermutées. Nous identifions deux principales voies responsables d'hypermutation dans les gliomes : une voie "de novo" associée à des déficits constitutionnels du système MMR et de la polymérase epsilon (POLE), ainsi qu'une voie "post-traitement", plus fréquente, associée à l'acquisition de déficits MMR et de résistance secondaire dans les gliomes récidivant après chimiothérapie par temozolomide. Expérimentalement, la signature mutationnelle des gliomes hypermutés post-traitement (signature COSMIC 11) était reproduite par les dommages induits par le témozolomide dans les cellules MMR déficientes. Alors que le déficit MMR s'associe à l'acquisition de résistance au témozolomide, des données cliniques et expérimentales suggèrent que les cellules MMR déficientes conservent une sensibilité à la nitrosourée lomustine. De façon inattendue, les gliomes MMR déficients présentaient des caractéristiques uniques, notamment l'absence d'infiltrats lymphocytaires T marqués, une hétérogénéité intratumorale importante, une survie diminuée ainsi qu’un faible taux de réponse aux traitements anti-PD-1. De plus, alors que l'instabilité des microsatellites n'etait pas détectée par des analyses en bulk dans les gliomes MMR déficients, le séquençage du génome entier à l'échelle de la cellule unique de gliome hypermuté post-traitement permettait de démontrer la presence de mutations des microsatellites. Collectivement, ces résultats supportent un modèle dans lequel des spécificités dans le profil mutationnel des gliomes hypermutés pourraient expliquer l’absence de reconnaissance par le système immunitaire ainsi que l’absence de réponse aux traitements par anti-PD-1 dans les gliomes MMR déficients. Nos données suggèrent un changement de pratique selon lequel la recherche d’hypermutation par séquençage tumoral lors de la récidive après traitement pourrait informer le pronostic et guider la prise en charge thérapeutique des patients
High tumor mutational burden (hypermutation) is observed in some gliomas; however, the mechanisms by which hypermutation develops and whether it predicts chemotherapy or immunotherapy response are poorly understood. Mechanistically, an association between hypermutation and mutations in the DNA mismatch-repair (MMR) genes has been reported in gliomas, but most MMR mutations observed in this context were not functionally characterized, and their role in causing hypermutation remains unclear. Furthermore, whether hypermutation enhances tumor immunogenicity and renders gliomas responsive to immune checkpoint blockade (e.g. PD-1 blockade) is not known. Here, we comprehensively analyze the clinical and molecular determinants of mutational burden and signatures in 10,294 gliomas, including 558 (5.4%) hypermutated tumors. We delineate two main pathways to hypermutation: a de novo pathway associated with constitutional defects in DNA polymerase and MMR genes, and a more common, post-treatment pathway, associated with acquired resistance driven by MMR defects in chemotherapy-sensitive gliomas recurring after temozolomide. Experimentally, the mutational signature of post-treatment hypermutated gliomas (COSMIC signature 11) was recapitulated by temozolomide-induced damage in MMR-deficient cells. While MMR deficiency was associated with acquired temozolomide resistance in glioma models, clinical and experimental evidence suggest that MMR-deficient cells retain sensitivity to the chloroethylating nitrosourea lomustine. MMR-deficient gliomas exhibited unique features including the lack of prominent T-cell infiltrates, extensive intratumoral heterogeneity, poor survival and low response rate to PD-1 blockade. Moreover, while microsatellite instability in MMR-deficient gliomas was not detected by bulk analyses, single-cell whole-genome sequencing of post-treatment hypermutated glioma cells demonstrated microsatellite mutations. Collectively, these results support a model where differences in the mutation landscape and antigen clonality of MMR-deficient gliomas relative to other MMR-deficient cancers may explain the lack of both immune recognition and response to PD-1 blockade in gliomas. Our data suggest a change in practice whereby tumor re-sequencing at relapse to identify progression and hypermutation could inform prognosis and guide therapeutic management
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Tsai, Po-chin, and 蔡柏欽. "BRAFV600E mutation in anaplast thyroid carcinomas and multiple papillary thyroid carcinomas." Thesis, 2005. http://ndltd.ncl.edu.tw/handle/94263865585788514890.

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碩士
國立中山大學
生物醫學科學研究所
93
Abstract： Activating point mutations of the BRAF gene have been recently reported to be restricted to papillary thyroid carcinomas (PTCs) and anaplastic thyroid carcinomas (ATCs) arising from PTCs among various benign and malignant thyroid tumors. A thymine-to-adenine transversion at nucleotide 1799 (T1799A), formerly designated as T1796A, in exon 15 resulting in a valine to glutamate substitution at residue 600 (V600E), formerly designated as V599E, was the only mutational site reported in thyroid cancer. We have previously shown that BRAFV600E mutations were detected in 49 of 105 (47%) PTCs but not in 5 follicular thyroid carcinomas (FTCs), 10 follicular adenomas, 3 Hürthle cell adenomas and 10 nodular goiters. In contrast to PTC, to date only few studies have been published concerning the frequency of BRAFV600E in ATCs and their coexisting differentiated thyroid carcinomas. In addition, there is no report concerning the BRAF status in multiple PTCs. In this study, paraffin-embedded tumor tissues of 25 patients with thyroid cancer (15 ATCs and 10 PTCs) were obtained from the Department of Pathology of Chang Gung Memorial Hospital-Kaohsiung. Nine ATCs were found to contain a coexisting differentiated carcinoma, including three follicular and six papillary carcinomas. Ten cases of PTC with multiple tumor foci were selected from a cohort of 105 PTCs as previously reported. Paraffin blocks containing tumor were sectioned followed by microdissection to obtain tissue for DNA extraction. Mutational hot spot in exon 15 (codon 600) of the BRAF gene were amplified by PCR and sequenced with an automatic sequencer. BRAFV600E mutations were detected in 3 of 15 (20%) ATCs. In the 9 coexisting differentiated carcinomas, 2 out of 6 PTCs harbored BRAF mutations but not in the three follicular carcinomas. In none of 3 ATCs with coexisting PTCs were mutations detectable in both tumor types. Among the ten cases of PTCs with multiple tumor foci, 5 cases demonstrated the same BRAF status in each tumor foci whereas 5 cases showed distinct BRAF status in different tumor foci. We conclude that the distinct BRAF status in anaplastic carcinoma and its coexisting differentiated carcinoma suggests that anaplastic carcinoma might not arise from differentiated carcinoma.The distinct BRAF status in different tumor foci of multiple papillary carcinomas suggests that multifocal tumors might not be formed through intrathyroidal lymphatic metastasis.
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Fu, Shuai-Shuai, and 傅帥帥. "The Clinical Manifestations and Specific Gene Expressions in Conventional Papillary Thyroid Carcinoma with BRAFV600E Mutation and BRAF Pseudogene." Thesis, 2012. http://ndltd.ncl.edu.tw/handle/36854887744386801786.

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碩士
國立陽明大學
解剖學及細胞生物學研究所
100
BRAFV600E is the most common point mutation found in papillary thyroid carcinomas (PTC). It may play an important role in the thyroid tumorgenesis by activating MAPK signal pathway and proposed to be a poor prognostic marker. However, the results in different studies are controversial. BRAF Pseudogene is a gene with DNA sequence similar to BRAF but having many stop codons which may not translate to a functional protein. BRAF Pseudogene was shown to activate MAPK signal pathway, but its role in thyroid cancer is still unclear. In this study, we investigated the effects of BRAFV600E mutation in the clinical manifestations, gene and protein expressions in patients with conventional PTC. The results showed that the frequency of the BRAFV600E mutation in Taiwan is high (73.1%). There is no significant difference in age, gender, tumor size, extrathyroidal invasion, nodal metastasis, distant metastasis and staging between patients with or without BRAFV600E mutation. High expression of BRAF and ERK proteins were observed in PTCs compared with normal tissues in immunohistochemistry (IHC) studies. Neither the expression of BRAF, ERK, NIS and glucotransporter 1 (GLUT1) in IHC, nor the detection of BRAF, p-ERK, and t-ERK in Western blotting correlates with BRAFV600E mutation. In the Q-PCR studies of thyroid differentiated genes, tumor invasion genes and GLUT1 expressions in PTCs, paired-normal thyroid tissues and nodular goiter tissues we found that the expression of NIS, TPO and TSHR in PTC were less than normal tissues (p<0.001, p=0.001, p<0.001, respectively). Besides, PTC expressed more MMP9 and GLUT1 than normal tissues (p<0.001, p<0.001, respectively). There is no significant difference between BRAF wild type (BRAFWT) and BRAFV600E in TPO, TSHR, MMP2, MMP9, GLUT1 and DcR3 gene expressions. However, PTCs with BRAFV600E expressed lower NIS mRNA level than BRAFWT (p=0.012). BRAF Pseudogene expression is high in conventional PTC (91.7%) and the frequency is similar in both BRAFV600E and BRAFWT. Furthermore, we overexpressed the pBRAFWT, pBRAFV600E and pBRAFpseudogene in WRO (differentiated thyroid follicular carcinoma cell line) and no significant difference in NIS, TPO, MMP9 and GLUT1 mRNA expressions were found among these three insertions. Our results showed that no significant difference in clinical- pathological features, gene and protein expressions between patients with conventional PTC harboring BRAFV600E mutation and BRAFWT in Taiwan. The only finding is the lower NIS gene expression in PTC harboring the BRAFV600E mutation suggesting the dedifferentiation of the tumor which may affect the I131 uptake in the subsequent radiotherapy. However, our present finding is not strong enough to indicate that BRAFV600E mutation is a poor prognostic marker affecting recurrent and mortality rates. Further studies are necessary to investigate the role of BRAFV600E mutation in PTC tumorigenesis.
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CARISSIMI, Elvira. "BRAFV600E MUTATION, TISSUE INHIBITOR OF METALLOPROTEINASE-1 UPREGULATION AND NF-KB ACTIVATION: CLOSING THE LOOP ON THE PAPILLARY THYROID CANCER TRILOGY." Doctoral thesis, 2011. http://hdl.handle.net/10447/95098.

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BRAFV600E is the most common mutation in papillary thyroid carcinoma (PTC). Tissue inhibitor of metalloproteinases (TIMP-1) and Nuclear Factor (NF)-kB have been shown to play an important role in thyroid cancer. Our aim was to evaluate whether an interplay among these three factors exerts a functional role in PTCs. 56 PTC specimens were analyzed for BRAFV600E mutation, TIMP-1 expression and NF-kB activation by real-time allele-specific amplification, realtime quantitative PCR (qRT-PCR) and electroforetic mobility shift assay (EMSA), respectively. We show that BRAFV600E mutation occurs selectively in PTC nodules and determines up-regulation of TIMP-1 and hyperactivation of NF-kB. In addition we describe that CD63, a member of the tetraspanin family, which has been indicated as the TIMP-1 receptor, was selectively up-regulated in PTC nodules harboring BRAFV600E mutation. The proof of the principle was assayed in vitro using BCPAP cell line harboring BRAFV600E mutation. When we silenced BRAF gene in BCPAP cell line using a specific small interfering RNA for the mutated form (MU-A), we found a marked decrease in TIMP-1 expression and NF-kB binding activity. Furthermore, using invasion assay we found that MU-A treated cells decreased significantly their ability to invade. We demonstrate that BRAFV600E causes up-regulation of TIMP- 1 via NF-kB activation. TIMP-1 binds its surface receptor CD63, leading to Akt activation, and thus conferring an anti-apoptotic behavior which eventually promotes cell invasion. We individuated a functional trilogy which might explain how BRAFV600E determines cancer initiation, progression and invasiveness in PTC.
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Book chapters on the topic "Mutation BRAFV600E"

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Po, Joseph W., Yafeng Ma, Alison W. S. Luk, David Lynch, Bavanthi Balakrishnar, Daniel Brungs, Farhad Azimi, et al. "Single-Cell Analysis of BRAFV600E and NRASQ61R Mutation Status in Melanoma Cell Lines as Method Generation for Circulating Melanoma Cells." In Methods in Molecular Biology, 277–86. New York, NY: Springer US, 2021. http://dx.doi.org/10.1007/978-1-0716-1205-7_21.

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Sterlich, Katharina, and Milen Minkov. "Childhood Langerhans Cell Histiocytosis: Epidemiology, Clinical Presentations, Prognostic Factors, and Therapeutic Approaches." In Rare Diseases [Working Title]. IntechOpen, 2021. http://dx.doi.org/10.5772/intechopen.96543.

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Childhood LCH is a rare disease, affecting 4–9 per 1,000,000 children below the age of 15 years. It is driven by somatic mutations in the MAPK pathway, arising in myeloid marrow progenitors. Both genders are affected by a slight male preponderance. The clinical spectrum of LCH varies from a single lesion affecting one organ system to severe multisystem disease with dysfunction of vital organs. Likewise, variable and unpredictable is its course, spanning from self-limiting course to progression with lethal outcome. Recognized unfavorable prognostic factors are the involvement of hematopoiesis, liver, and spleen, as well as non-response to systemic treatment. Recent studies suggest that patients carrying the BRAFV600E mutation may have a more severe clinical phenotype and less favorable prognosis. The combination of prednisolone and vinblastine is the standard first-line treatment for disseminated disease. Second-line options used in clinical practice are not well evidenced. Inhibitors of the MAPK pathway are a promising alternative option.
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Hoperia, Victoria, Alexander Larin, Joanna Gwiedzska, Kirk Jensen, Aneeta Patel, Andrew Bauer, and Vasyl Vasko. "Detection of BRAFV600E Mutation in May-Grunwald Stained Thyroid FNA Samples Can Help in Identification of Cancers with a High Risk of Extra-Thyroidal Extension and Metastases." In CLINICAL - Thyroid Cancer, P3–665—P3–665. The Endocrine Society, 2011. http://dx.doi.org/10.1210/endo-meetings.2011.part4.p11.p3-665.

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Sait, Sameer Farouk, Morgan Freret, and Matthias Karajannis. "Pediatric High-Grade Glioma." In Neuro-Oncology Compendium for the Boards and Clinical Practice, edited by Maciej M. Mrugala, Na Tosha N. Gatson, Sylvia C. Kurz, Kathryn S. Nevel, and Jennifer L. Clarke, 267—C18.P333. Oxford University PressNew York, 2023. http://dx.doi.org/10.1093/med/9780197573778.003.0018.

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Abstract Pediatric high-grade gliomas (pHGGs) represent 8–12% of all pediatric central nervous system tumors and comprise a spectrum of histologies that includes anaplastic astrocytoma (WHO grade 3), glioblastoma (WHO grade 4), and diffuse midline glioma, H3K27M mutant (WHO grade 4). Diffuse intrinsic pontine gliomas (DIPG) are pHGG of the brainstem that are generally diagnosed based on clinical and imaging findings alone, but, if biopsied, pathology most commonly reveals diffuse midline glioma, H3K27M mutant. Evidence from genetic and epigenetic molecular profiling studies has revealed significant molecular diversity among pHGGs. These studies led to a major reclassification of pHGGs into molecular-based tumor subgroups, as compared to earlier primarily histology-based tumor subgroups. Findings show that these molecular subgroups of pHGG correlate with clinically meaningful factors, including tumor location and prognosis. The most important molecular groups are the histone mutations related pHGG (H3.K27-mutated midline and H3.G34-mutated hemispheric pHGG); the rare isocitrate dehydrogenase (IDH1/2)-mutated pHGG occurring mainly in young adults; the BRAFV600E mutant cortical tumors arising from transformation of lower grade tumors, the heterogenous H3/IDH/BRAF wildtype pHGGs and infant HGGs. Another important group occurs in patients with constitutional mismatch repair deficiency, a cancer predisposition syndrome wherein patients develop hypermutant glioblastoma. Standard treatment for pHGG includes maximally safe surgical resection followed by radiation and chemotherapy. This chapter provides a comprehensive review of the clinical, genetic, and therapeutic aspects relevant to oncologists caring for children, adolescents, and young adults with pHGGs.
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Conference papers on the topic "Mutation BRAFV600E"

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Pace, Margaret, Vladislava O. Melnikova, Kerry Brandl, Larry Kahn, Jacky Woo, and Darren W. Davis. "Abstract 3159: BRAFV600E mutation analysis in circulating tumor cells." In Proceedings: AACR 102nd Annual Meeting 2011‐‐ Apr 2‐6, 2011; Orlando, FL. American Association for Cancer Research, 2011. http://dx.doi.org/10.1158/1538-7445.am2011-3159.

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Ran, Leili, Devan Murphy, Jessica Sher, Zhen Cao, Shangqian Wang, Edward Walczak, Youxin Guan, et al. "Abstract A15: Modeling sporadic gastrointestinal stromal tumor with BRAFV600E mutation." In Abstracts: Advances in Sarcomas: From Basic Science to Clinical Translation; May 16-19, 2017; Philadelphia, PA. American Association for Cancer Research, 2018. http://dx.doi.org/10.1158/1557-3265.sarcomas17-a15.

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Zhou, Biting, Kailun Xu, Yingkuan Shao, Xi Zheng, and Shu Zheng. "IDDF2020-ABS-0070 Proteomic analysis of colorectal cancer with BRAFV600E mutation." In Abstracts of the International Digestive Disease Forum (IDDF), 22–23 November 2020, Hong Kong. BMJ Publishing Group Ltd and British Society of Gastroenterology, 2020. http://dx.doi.org/10.1136/gutjnl-2020-iddf.59.

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Tazi, Abdellatif, Fanélie Jouenne, Emmanuelle Bugnet, Gwenaël Lorillon, Véronique Meignin, Aurélie Sadoux, Sylvie Chevret, and Samia Mourah. "Clinical impact of BRAFV600E mutation in adult pulmonary Langerhans cell histiocytosis." In ERS International Congress 2019 abstracts. European Respiratory Society, 2019. http://dx.doi.org/10.1183/13993003.congress-2019.oa2141.

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Balint, Balazs, Karin van den Hurk, Sinead Toomey, Louise Unwin, Kieran Sheahan, Enda McDermott, Ian Murphy, et al. "Abstract 23: Low incidence of BRAFV600E mutation among melanoma patients in Ireland." In Proceedings: AACR 104th Annual Meeting 2013; Apr 6-10, 2013; Washington, DC. American Association for Cancer Research, 2013. http://dx.doi.org/10.1158/1538-7445.am2013-23.

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Phipps, Amanda I., Karen W. Makar, Anna E. Coghill, Andrea N. Burnett-Hartman, Michael N. Passarelli, and Polly A. Newcomb. "Abstract 4510:BRAFV600E mutation status and survival after colorectal cancer diagnosis according to patient and tumor characteristics." In Proceedings: AACR 103rd Annual Meeting 2012‐‐ Mar 31‐Apr 4, 2012; Chicago, IL. American Association for Cancer Research, 2012. http://dx.doi.org/10.1158/1538-7445.am2012-4510.

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Wu, Zihan, Xiaoyang Huang, Shaohui Huang, Xin Ding, and Liansheng Wang. "Direct Prediction of BRAFV600E Mutation from Histopathological Images in Papillary Thyroid Carcinoma with a Deep Learning Workflow." In CSAI 2020: 2020 4th International Conference on Computer Science and Artificial Intelligence. New York, NY, USA: ACM, 2020. http://dx.doi.org/10.1145/3445815.3445840.

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Kim, Eunhee, Stephen S. Chung, Jae H. Park, Young Rock Chung, Piro Lito, Julie Feldstein, Wenhuo Hu, et al. "Abstract 3140: Context specific effects of the BRAFV600E mutation on hematopoiesis identifies novel models of BRAF mutant hematopoietic disorders." In Proceedings: AACR Annual Meeting 2014; April 5-9, 2014; San Diego, CA. American Association for Cancer Research, 2014. http://dx.doi.org/10.1158/1538-7445.am2014-3140.

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Tanaka, Hiroki, Kie Horioka, Masahiro Yamamoto, Asari Masaru, Katsuhiro Okuda, Seiji Ohtani, Kosuke Yamazaki, Keiko Shimizu, and Katsuhiro Ogawa. "Abstract 4081: Podoplanin expression in Kupffer cells and platelet deposition on the hepatic sinusoidal cells in the liver of transgenic mice with a hepatocyte-specific human BRAFV600E mutation." In Proceedings: AACR Annual Meeting 2018; April 14-18, 2018; Chicago, IL. American Association for Cancer Research, 2018. http://dx.doi.org/10.1158/1538-7445.am2018-4081.

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DeFazio, Anna, Tania Moujaber, Dariush Etemadmoghadam, Catherine Kennedy, Yoke-Eng Chiew, Rosemary L. Balleine, Catherine Saunders, et al. "Abstract A25: BRAFV600E mutations in serous ovarian cancer and response to the BRAF inhibitor, dabrafenib." In Abstracts: AACR Special Conference: Advances in Ovarian Cancer Research: Exploiting Vulnerabilities; October 17-20, 2015; Orlando, FL. American Association for Cancer Research, 2016. http://dx.doi.org/10.1158/1557-3265.ovca15-a25.

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