نتایج جستجو برای: braf gene

تعداد نتایج: 1146646  

2012
Austin Y. Shull Alicia Latham-Schwark Poornema Ramasamy Kristin Leskoske Dora Oroian Marc R. Birtwistle Phillip J. Buckhaults

BACKGROUND BRAF(V600) inhibitors have offered a new gateway for better treatment of metastatic melanoma. However, the overall efficacy of BRAF(V600) inhibitors has been lower than expected in clinical trials, and many patients have shown resistance to the drug's effect. We hypothesized that somatic mutations in the Phosphoinositide 3-Kinase (PI3K) pathway, which promotes proliferation and survi...

Journal: :Journal of medical genetics 2004
E Domingo P Laiho M Ollikainen M Pinto L Wang A J French J Westra T Frebourg E Espín M Armengol R Hamelin H Yamamoto R M W Hofstra R Seruca A Lindblom P Peltomäki S N Thibodeau L A Aaltonen S Schwartz

BACKGROUND According to the international criteria for hereditary non-polyposis colorectal cancer (HNPCC) diagnostics, cancer patients with a family history or early onset of colorectal tumours showing high microsatellite instability (MSI-H) should receive genetic counselling and be offered testing for germline mutations in DNA repair genes, mainly MLH1 and MSH2. Recently, an oncogenic V600E ho...

2012
Joyce James Bruce Ruggeri Robert C. Armstrong Martin W. Rowbottom Susan Jones-Bolin Ruwanthi N. Gunawardane Pawel Dobrzanski Michael F. Gardner Hugh Zhao Merryl D. Cramer Kathryn Hunter Ronald R. Nepomuceno Mangeng Cheng Dana Gitnick Mehran Yazdanian Darren E. Insko Mark A. Ator Julius L. Apuy Raffaella Faraoni Bruce D. Dorsey Michael Williams Mark W. Holladay

Mutations in the BRAF gene have been identified in approximately 7% of cancers, including 60% to 70% of melanomas, 29% to 83% of papillary thyroid carcinomas, 4% to 16% colorectal cancers, and a lesser extent in serous ovarian and non–small cell lung cancers. The V600E mutation is found in the vast majority of cases and is an activating mutation, conferring transforming and immortalization pote...

2012
Joyce James Bruce Ruggeri Robert C. Armstrong Martin W. Rowbottom Susan Jones Ruwanthi N. Gunawardane Pawel Dobrzanski Michael F. Gardner Hugh Zhao Merryl D. Cramer Kathryn Hunter Ronald R. Nepomuceno Mangeng Cheng Dana Gitnick Mehran Yazdanian Darren E. Insko Mark A. Ator Julius L. Apuy Raffaella Faraoni Bruce D. Dorsey Michael Williams Shripad S. Bhagwat Mark W. Holladay

Mutations in the BRAF gene have been identified in approximately 7% of cancers, including 6070% of melanomas, 23-83% of papillary thyroid carcinomas, 4–16% colorectal cancers, and a lesser extent in serous ovarian and non-small-cell lung cancers. The V600E mutation is found in the vast majority of cases and is an activating mutation, conferring transforming and immortalization potential to cell...

Journal: :Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2006
Jana Vandrovcova Kristina Lagerstedt-Robinsson Lars Påhlman Annika Lindblom

The BRAF gene is mutated in 4% to 12% of unselected colorectal cancers, particularly those with high microsatellite instability and in premalignant lesions, such as serrated adenomas and hyperplastic polyps. However, it has been shown that activating BRAF mutations are almost never found in tumors from hereditary nonpolyposis colorectal cancer patients. To evaluate the role of oncogenic BRAF mu...

2011
Karoliina Stefanius Laura Ylitalo Anne Tuomisto Rami Kuivila Tiina Kantola Päivi Sirniö Tuomo J Karttunen Markus J Mäkinen

AIMS To define the occurrence of KRAS and BRAF mutations, microsatellite instability (MSI), and MGMT and hMLH1 methylation and expression in colorectal serrated adenocarcinoma. METHODS AND RESULTS KRAS codon 12/13 and 59/61 and BRAF V600E mutations, MSI, and MGMT and hMLH1 methylation and expression in 42 serrated adenocarcinomas and 17 serrated adenomas were compared with those in 59 non-ser...

Journal: :The Journal of clinical investigation 2005
Raffaele Ciampi Jeffrey A Knauf Roswitha Kerler Manoj Gandhi Zhaowen Zhu Marina N Nikiforova Hartmut M Rabes James A Fagin Yuri E Nikiforov

Genes crucial for cancer development can be mutated via various mechanisms, which may reflect the nature of the mutagen. In thyroid papillary carcinomas, mutations of genes coding for effectors along the MAPK pathway are central for transformation. BRAF point mutation is most common in sporadic tumors. By contrast, radiation-induced tumors are associated with paracentric inversions activating t...

2016
Langping Jin Endong Chen Siyang Dong Yefeng Cai Xiangjian Zhang Yili Zhou Ruichao Zeng Fan Yang Chuanmeng Pan Yehuan Liu Weili Wu Mingzhao Xing Xiaohua Zhang Ouchen Wang

The role of telomerase reverse transcriptase (TERT) gene promoter mutations in the aggressiveness of papillary thyroid cancer (PTC) remains to be further investigated. Here we examined the relationship of TERT promoter mutations and BRAF V600E with the clinicopathological features of PTC in 653 patients. Sanger sequencing of genomic DNA from primary PTC tumors was performed for mutation detecti...

Journal: :Cancer discovery 2015
Andrew S McNeal Kevin Liu Vihang Nakhate Christopher A Natale Elizabeth K Duperret Brian C Capell Tzvete Dentchev Shelley L Berger Meenhard Herlyn John T Seykora Todd W Ridky

UNLABELLED Deletion of the entire CDKN2B-CDKN2A gene cluster is among the most common genetic events in cancer. The tumor-promoting effects are generally attributed to loss of CDKN2A-encoded p16 and p14ARF tumor suppressors. The degree to which the associated CDKN2B-encoded p15 loss contributes to human tumorigenesis is unclear. Here, we show that CDKN2B is highly upregulated in benign melanocy...

Journal: :The American journal of pathology 2009
Hong Yu Ronan McDaid John Lee Patricia Possik Ling Li Suresh M Kumar David E Elder Patricia Van Belle Phyllis Gimotty Matt Guerra Rachel Hammond Katharine L Nathanson Maria Dalla Palma Meenhard Herlyn Xiaowei Xu

Melanocytic nevi frequently harbor oncogenic BRAF mutations, but only a minority progress to melanoma. In human melanocytes, persistent BRAF(V600E) expression triggers oncogene-induced senescence, which implies that bypass of oncogene-induced senescence is necessary for malignant transformation of melanocytes. We show that a subpopulation of primary human melanocytes with persistent expression ...

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