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黑色素瘤和结直肠癌中的 BRAF 突变:单一致癌突变导致不同的肿瘤表型和临床意义。

BRAF mutations in melanoma and colorectal cancer: a single oncogenic mutation with different tumour phenotypes and clinical implications.

机构信息

Medical Oncology Department, St. Vincent's University Hospital, Dublin, Ireland.

出版信息

Crit Rev Oncol Hematol. 2013 Jul;87(1):55-68. doi: 10.1016/j.critrevonc.2012.11.003. Epub 2012 Dec 12.

Abstract

BRAF is an oncogene encoding a serine-threonine protein kinase involved in the MAPK signalling cascade. BRAF acts as direct effector of RAS and through the activation of MEK, promotes tumour growth and survival. Approximately, 8% of cancers carry a BRAF mutation. However, the prevalence of this mutation varies significantly across different tumour types. There has been increasing interest in the specific role of BRAF mutations in cancer growth and progression over the last few years, especially since the clinical introduction of therapeutic BRAF inhibitors. In this paper we review the published literature on the role of BRAF mutations in melanoma and colorectal cancer, focusing on similarities and differences of BRAF mutations with respect to frequency, demographics, risk factors, mutation-associated clinico-pathologic and molecular features and clinical implications between these two diseases.

摘要

BRAF 是一种致癌基因,编码丝氨酸-苏氨酸蛋白激酶,参与 MAPK 信号级联反应。BRAF 作为 RAS 的直接效应因子,通过激活 MEK,促进肿瘤生长和存活。大约 8%的癌症携带 BRAF 突变。然而,这种突变的患病率在不同的肿瘤类型中差异很大。近年来,人们对 BRAF 突变在癌症生长和进展中的特定作用越来越感兴趣,特别是自从 BRAF 抑制剂的临床应用以来。本文综述了关于 BRAF 突变在黑色素瘤和结直肠癌中的作用的文献,重点比较了这两种疾病中 BRAF 突变的频率、人口统计学、危险因素、与突变相关的临床病理和分子特征以及临床意义方面的异同。

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