遗传性肾透明细胞癌

Hereditary clear cell renal cell carcinoma

ORPHA:422526疾病

定义

遗传性透明细胞肾细胞癌（ccRCC）是一种遗传性肾癌综合征，定义为两个或多个家庭成员中有透明细胞肾细胞癌的发生，不合并3号染色体易位，冯·希佩尔·林道病或与ccRCC相关的其他肿瘤易感综合征比如结节性硬化症或Birt-Hogg-DubbÚ综合征。

遗传性透明细胞肾细胞腺癌

基因	名称	关联类型
RNF139	ring finger protein 139	Part of a fusion gene in
FHIT	fragile histidine triad diadenosine triphosphatase	Part of a fusion gene in
FLCN	folliculin	Candidate gene tested in
HSPBAP1	HSPB1 associated protein 1	Part of a fusion gene in
DIRC3	disrupted in renal carcinoma 3	Part of a fusion gene in
OGG1	8-oxoguanine DNA glycosylase	Candidate gene tested in
SLC49A4	solute carrier family 49 member 4	Candidate gene tested in

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