BRAF mutations in papillary carcinomas of the thyroid
BRAF mutations in papillary carcinomas of the thyroid
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DOI：
10.1038/sj.onc.1206739
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发表时间：
2003-09-25
期刊：
影响因子：
8
通讯作者：
Takenoshita, S
中科院分区：
文献类型：
--
作者：
Fukushima, T;Suzuki, S;Takenoshita, S
BRAF是一种丝氨酸/苏氨酸激酶，其从RAS接收促有丝分裂信号并将其传递到MAP激酶途径。最近的研究报道，BRAF基因的突变在几种癌症中以不同的频率被检测到，特别是在黑色素瘤中超过60%。我们分析了100例甲状腺癌中BRAF和RAS基因的突变，以研究RAS/RAF/MEK/MAP激酶通路中的遗传畸变。仅在乳头状癌中检测到BRAF突变（76例中40例：53%），并且仅为V599 E，这是在其他癌中经常观察到的突变。在6例（6%）病例中观察到NRAS突变，均发生在乳头状癌以外的组织学类型中，且仅为Q61 R。未发现KRAS或HRAS突变。我们的研究结果表明，BRAF基因突变可能在甲状腺乳头状癌的发生中起着至关重要的作用。
BRAF is a serine/threonine kinase that receives a mitogenic signal from RAS and transmits it to the MAP kinase pathway. Recent studies have reported that mutations of the BRAF gene were detected with varying frequencies in several cancers, notably more than 60% in melanoma. We analysed mutations of BRAF and RAS genes in 100 cases of thyroid carcinoma to investigate genetic aberrations in the RAS/RAF/MEK/MAP kinase pathway. BRAF mutations were detected exclusively in papillary carcinomas ( 40 in 76 cases: 53%), and were exclusively V599E, a mutation frequently observed in other carcinomas. NRAS mutation was observed in six cases (6%), all in histological types other than papillary carcinoma, and was exclusively Q61R. No mutations were found in KRAS or HRAS. Our results suggest that BRAF mutations may play a critical role in the carcinogenesis of papillary carcinoma of the thyroid.