Hereditary kidney cancer syndromes.
Hereditary kidney cancer syndromes.
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DOI：
10.1053/j.ackd.2013.10.001
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发表时间：
2014-01
影响因子：
2.9
通讯作者：
Nathanson KL
中科院分区：
文献类型：
--
作者：
Haas NB;Nathanson KL
肾癌的遗传易感性是一个迷人而复杂的话题。我们对与疾病风险增加相关的遗传综合征类型的了解正在不断扩大。目前，有10个综合征与所有类型的肾癌的风险增加，这是审查。透明细胞肾癌与von Hippel Lindau病、3号染色体易位、PTEN错构瘤综合征和BAP 1突变以及编码包含琥珀酸脱氢酶复合物（SDHB/C/D）的蛋白质的几种基因相关。1型乳头状肾癌与MET的生殖系突变有关，2型乳头状肾癌是遗传性平滑肌瘤病和肾细胞癌（FH突变）的一部分。染色体和嗜酸细胞肾癌主要与Birt Hogg Dubé综合征相关。血管平滑肌脂肪瘤是常见的和他们的恶性对应上皮样血管平滑肌脂肪瘤很少被发现在病人的血管硬化症复杂。与这些疾病相关的肾癌的靶向治疗选择刚刚开始扩大，并且是活跃的临床研究领域。
Inherited susceptibility to kidney cancer is a fascinating and complex topic. Our knowledge about types of genetic syndromes associated with an increased risk of disease is continually expanding. Currently, there are 10 syndromes associated with an increased risk of all types of renal cancer, which are reviewed herein. Clear cell renal cancer is associated with von Hippel Lindau disease, chromosome 3 translocations, PTEN hamartomatous syndrome and mutations in BAP1, as well as several of the genes encoding the proteins comprising the succinate dehydrogenase complex (SDHB/C/D). Type 1 papillary renal cancers arise in conjunction with germline mutations in MET and type 2 as part of Hereditary Leiomyomatosis and Renal Cell Cancer (FH mutations). Chromophone and oncocytic renal cancers are predominantly associated with Birt Hogg Dubé syndrome. Angiomyolipomas are commonly and their malignant counterpart epitheliod angiomyolipomas rarely are found in patients with Tuberous Sclerosis Complex. The targeted therapeutic options for the renal cancer associated with these diseases are just starting to expand, and are an area of active clinical research.
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影响因子：
168.9
作者：
Bissler, John J.;Kingswood, J. Christopher;Budde, Klemens
通讯作者：
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影响因子：
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作者：
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作者：
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