Mutations in BHD and TP53 genes, but not in HNF1beta gene, in a large series of sporadic chromophobe renal cell carcinoma.

Mutations in BHD and TP53 genes, but not in HNF1beta gene, in a large series of sporadic chromophobe renal cell carcinoma.
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DOI:
10.1038/sj.bjc.6603492
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发表时间:
2007-01-29
影响因子:
8.8
通讯作者:
--
中科院分区:
医学1区
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--
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本文对92例肾细胞癌(嫌色细胞癌46例,透明细胞癌19例,嗜酸细胞癌18例,乳头状癌9例)17号染色体上的BHD、TP 53和HNF 1 β进行了研究。分别有6例、13例和0例患者存在BHD、TP53和HNF 1 β突变(84%的突变涉及嫌色细胞),表明BHD和TP53在嫌色细胞亚型中起作用。
BHD, TP53, and HNF1β on chromosome 17 were studied in 92 cases of renal cell carcinoma (46 chromophobe, 19 clear cell, 18 oncocytoma, and nine papillary). Six, thirteen, and zero cases had, respectively BHD, TP53, and HNF1β mutations, (84% mutations involved chromophobe), suggesting a role for BHD and TP53 in chromophobe subtype.