BRAF Exon 15 T1799A Mutation Is Common in Melanocytic Nevi, but Less Prevalent in Cutaneous Malignant Melanoma, in Chinese Han

Frequent somatic mutations of BRAF (v-raf murine sarcoma viral oncogene homolog B) exon T1799A, which are implicated in the initial events of promutagenic cellular proliferation, are detected in both malignant melanomas (MM) and melanocytic nevi (MN). Most of the data regarding BRAF exon T1799A muta...

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Published in:Journal of investigative dermatology 2011-05, Vol.131 (5), p.1129-1138
Main Authors: Qi, Rui-Qun, He, Li, Zheng, Song, Hong, Yuxiao, Ma, Lei, Zhang, Shifa, Zhao, Liping, Guo, Xinjian, Wang, Yong, Yu, Jiang-yun, Fu, Lan, Zhang, Wei, Long, Tingfeng, Zhang, Chao, Chen, Guohong, Lin, Junping, Wang, Chengliang, Zhou, Li, Mi, Qingsheng, Weiland, Matthew, Chen, John Z.S., Mchenga, S.S. Salum, Wang, Ya-Kun, Mchepange, Uwesu, Wang, Zhimin, Chen, Hong-Duo, Gao, Xing-Hua
Format: Article
Language:English
Subjects:
Adolescent
Adult
Asian Continental Ancestry Group - genetics
Asian Continental Ancestry Group - statistics & numerical data
Biological and medical sciences
Child
Child, Preschool
Dermatology
Exons - genetics
Female
Humans
Infant
Infant, Newborn
Male
Medical sciences
Melanoma - epidemiology
Melanoma - genetics
Mutation - genetics
Nevus, Pigmented - epidemiology
Nevus, Pigmented - genetics
Prevalence
Proto-Oncogene Proteins B-raf - genetics
Retrospective Studies
Skin Neoplasms - epidemiology
Skin Neoplasms - genetics
Tumors of the skin and soft tissue. Premalignant lesions
Ultraviolet Rays - adverse effects
Young Adult
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Summary:Frequent somatic mutations of BRAF (v-raf murine sarcoma viral oncogene homolog B) exon T1799A, which are implicated in the initial events of promutagenic cellular proliferation, are detected in both malignant melanomas (MM) and melanocytic nevi (MN). Most of the data regarding BRAF exon T1799A mutation have been from Caucasian cohorts, and a comprehensive screening of a homogeneous population is lacking. A total of 379 cases of MN and 195 cases of MM were collected from Chinese Han living in three geographical regions in China, i.e., northeast, southwest, and northwest China. BRAF exon T1799A mutation was detected by PCR and sequencing from microdissected tumors. In all, 59.8% cases of MN harbored BRAF exon T1799A mutation. Samples from regions with high UV exposure had higher detection rates than regions with lower UV exposure (73.5, 67.0, and 38.9%, respectively; χ2=31.674, P=1.59E–7). There were no differences in mutation rates between congenital and acquired MN; however, acquired MN with advanced age of onset had a higher mutation rate than those with younger age of onset (χ2=13.23, P=0.02). In all, 15.0% cases of MM harbored the BRAF mutation. The mutation rate in MM was not affected by region, histological type, gender, pattern of UV exposure, and age. The study suggests that the mutation is not necessarily associated with malignant transformation.
ISSN:0022-202X
1523-1747
DOI:10.1038/jid.2010.405