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甲状腺乳头状癌中的BRAF突变

BRAF mutation in papillary thyroid carcinoma.

作者信息

Cohen Yoram, Xing Mingzhao, Mambo Elizabeth, Guo Zhongmin, Wu Guogun, Trink Barry, Beller Uziel, Westra William H, Ladenson Paul W, Sidransky David

机构信息

Division of Head and Neck Cancer Research, Department of Otolaryngology-Head and Neck Surgery, The Johns Hopkins University School of Medicine, Baltimore, MD 21205-2196, USA.

出版信息

J Natl Cancer Inst. 2003 Apr 16;95(8):625-7. doi: 10.1093/jnci/95.8.625.

Abstract

The BRAF gene has been found to be activated by mutation in human cancers, predominantly in malignant melanoma. We tested 476 primary tumors, including 214 lung, 126 head and neck, 54 thyroid, 27 bladder, 38 cervical, and 17 prostate cancers, for the BRAF T1796A mutation by polymerase chain reaction (PCR)-restriction enzyme analysis of BRAF exon 15. In 24 (69%) of the 35 papillary thyroid carcinomas examined, we found a missense thymine (T)-->adenine (A) transversion at nucleotide 1796 in the BRAF gene (T1796A). The T1796A mutation was detected in four lung cancers and in six head and neck cancers but not in bladder, cervical, or prostate cancers. Our data suggest that activating BRAF mutations may be an important event in the development of papillary thyroid cancer.

摘要

已发现BRAF基因在人类癌症中因突变而被激活,主要是在恶性黑色素瘤中。我们通过对BRAF外显子15进行聚合酶链反应(PCR)-限制性酶切分析,检测了476例原发性肿瘤,包括214例肺癌、126例头颈癌、54例甲状腺癌、27例膀胱癌、38例宫颈癌和17例前列腺癌中的BRAF T1796A突变。在所检测的35例乳头状甲状腺癌中,有24例(69%)在BRAF基因的第1796位核苷酸处发现了错义胸腺嘧啶(T)到腺嘌呤(A)的颠换(T1796A)。在4例肺癌和6例头颈癌中检测到了T1796A突变,但在膀胱癌、宫颈癌或前列腺癌中未检测到。我们的数据表明,BRAF激活突变可能是乳头状甲状腺癌发生过程中的一个重要事件。

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