Genetic predisposition to kidney cancer.
Genetic predisposition to kidney cancer.
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DOI：
10.1053/j.seminoncol.2016.09.001
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发表时间：
2016-10
影响因子：
4
通讯作者：
Linehan WM
中科院分区：
文献类型：
--
作者：
Schmidt LS;Linehan WM
肾癌不是一种单一的疾病，而是由许多不同类型的癌症组成，这些癌症按组织学分类，在表现、临床过程和遗传基础上各不相同。对遗传性肾细胞癌 (RCC) 家族的研究为我们了解不同组织学肾癌的致病基因和代谢途径的改变奠定了基础。 Von Hippel-Lindau 病是第一种具有明确遗传基础的肾癌疾病。在接下来的二十年里，鉴定了导致许多其他遗传性肾癌综合征的基因，包括遗传性乳头状肾癌、Birt-Hogg-Dubé综合征、遗传性平滑肌瘤病和肾细胞癌，以及琥珀酸脱氢酶相关肾癌。最近，肾细胞癌已被证实是 BAP1 相关肿瘤易感综合征和 MiTF 相关癌症综合征家族个体临床表型的一部分。在这里，我们总结了这些遗传性肾癌综合征和其他遗传性肾癌综合征的临床特征和致病基因、遗传性基因突变时失调的途径，以及对这些遗传性肾癌综合征患者的临床治疗建议。
Kidney cancer is not a single disease but is made up of a number of different types of cancer classified by histology that are disparate in presentation, clinical course, and genetic basis. Studies of families with inherited renal cell carcinoma (RCC) have provided the basis for our understanding of the causative genes and altered metabolic pathways in renal cancer with different histologies. Von Hippel-Lindau disease was the first renal cancer disorder with a defined genetic basis. Over the next two decades, the genes responsible for a number of other inherited renal cancer syndromes including hereditary papillary renal carcinoma, Birt-Hogg-Dubé syndrome, hereditary leiomyomatosis and renal cell carcinoma, and succinate dehydrogenase–associated renal cancer were identified. Recently, renal cell carcinoma has been confirmed as part of the clinical phenotype in individuals from families with BAP1-associated tumor predisposition syndrome and MiTF-associated cancer syndrome. Here we summarize the clinical characteristics of and causative genes for these and other inherited RCC syndromes, the pathways that are dysregulated when the inherited genes are mutated, and recommended clinical management of patients with these inherited renal cancer syndromes.
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影响因子：
64.8
作者：
Bertolotto, Corine;Lesueur, Fabienne;Bressac-de Paillerets, Brigitte
通讯作者：
Bressac-de Paillerets, Brigitte
影响因子：
8
作者：
Hartman, T. R.;Nicolas, E.;Klein-Szanto, A.;Al-Saleem, T.;Cash, T. P.;Simon, M. C.;Henske, E. P.
通讯作者：
Henske, E. P.
影响因子：
168.9
作者：
Bissler, John J.;Kingswood, J. Christopher;Budde, Klemens
通讯作者：
Budde, Klemens
影响因子：
3.5
作者：
Alam, NA;Rowan, AJ;Tomlinson, IPM
通讯作者：
Tomlinson, IPM
影响因子：
37.3
作者：
Hong SB;Oh H;Valera VA;Stull J;Ngo DT;Baba M;Merino MJ;Linehan WM;Schmidt LS
通讯作者：
Schmidt LS