7 CDH1 cadherin 1 UVO; CDHE; ECAD; LCAM; Arc- 1; CD324 8 CDKN2A cyclin dependent kinase inhibitor 2A ARF; MLM; P14; P16; P19; CMM2; INK4; MTS1; TP16;

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1 Oncogene Official Full Name Also known as: Summary: Summary: (Chinese) Oncogene 1 ABL1 ABL protooncogene 1, nonreceptor tyrosine kinase 2 AKT1 AKT serine/threonine kinase 1 ABL; JTK7; p150; c-this gene has been found fused to a ABL; v-abl; c- variety of translocation partner ABL1; bcr/abl genes in various leukemias AKT; PKB; RAC; CWS6; PRKBA; PKB-ALPHA; RAC- ALPHA associated with the Proteus syndrome. Multiple alternatively spliced transcript variants have been found for this gene. 该基因已经发现稠合到各种各种白血病易位伴侣基因与肿瘤的关系 :BRA- ABL1 融合基因是慢性粒细胞性白血病的一个重要病因在这种基因突变已与变形杆菌综合与肿瘤的关系 : 在横纹肌实体瘤中征有发现 AKT1 过表达 ( 普罗秋斯综合症 ) 多重选择性剪接转录变异体也发现了这种基因 ABL1 AKT1 3 ALK anaplastic lymphoma receptor tyrosine kinase CD246; NBLST3 This gene has been found to be rearranged, mutated, or amplified in a series of tumours including anaplastic large cell lymphomas, neuroblastoma, and non-small cell lung cancer. 该基因已被发现被重新安排的, 突与肿瘤的关系 :EML4-ALK 融合基因变的, 或扩增在一系列的肿瘤, 包占非小细胞肺癌中的 3~5%, 括间变性大细胞淋巴瘤, 神经母细胞瘤, 和非小细胞肺癌的扩增 ALK 4 APC APC, WNT signaling pathway regulator GS; DP2; DP3; BTPS2; DP2.5; PPP1R46 Defects in this gene cause familial adenomatous polyposis (FAP), an autosomal dominant pre-malignant disease that usually progresses to malignancy. 缺陷这个基因导致家族性息肉病 ( FAP), 一种常染色体显性恶性疾病前, 通常发展为恶性肿瘤带有 APC 突变的人, 在 40 岁左右发生结直肠癌的可能性大幅升高 APC 5 ATM ATM serine/threonine kinase AT1; ATA; ATC; ATD; ATE; ATDC; TEL1; TELO1 associated with ataxia telangiectasia, an autosomal recessive disorder. 在这种基因突变与共济失调毛细血 ATM 失活与多种白血病淋巴瘤相管扩张症, 常染色体隐性病症相关关 ATM 6 BRAF B-Raf protooncogene, serine/threonine kinase NS7; B-raf; BRAF1; RAFB1; B- RAF1 Mutations in this gene have also been associated with various cancers, including non-hodgkin lymphoma, colorectal cancer, malignant melanoma, thyroid carcinoma, non-small cell lung carcinoma, and adenocarcinoma of lung. 在这个基因的突变也已与各种癌症, 包括非何杰金氏淋巴瘤, 结肠直肠癌, 恶性黑素瘤, 甲状腺癌, 非小细胞肺癌和肺腺癌相关联但是如果 BRAF 发生 V600E 突变, 那么无需 T598 和 S601 两个位点的磷酸化,BRAF 就已获得持续的活性, 并刺激细胞进入分裂周期 BRAF

2 7 CDH1 cadherin 1 UVO; CDHE; ECAD; LCAM; Arc- 1; CD324 8 CDKN2A cyclin dependent kinase inhibitor 2A ARF; MLM; P14; P16; P19; CMM2; INK4; MTS1; TP16; CDK4I; CDKN2; INK4A; MTS-1; P14ARF; P19ARF; P16INK4; P16INK4A; P16- INK4A correlated with gastric, breast, colorectal, thyroid and ovarian cancer. This gene is frequently mutated or deleted in a wide variety of tumors, and is known to be an important tumor suppressor gene. 在这种基因突变与胃, 乳房, 结肠直肠, 甲状腺癌和卵巢癌相关该基因突变频率或在各种各样的肿瘤中删除, 并已知是一个重要的肿瘤抑制基因 CDH1 与癌细胞的浸润癌细胞转移相关, 当 CDH1 基因发生突变失活时, 细胞更容易突破基底膜侵入到周围的组织中去 CDKN2A 的突变与缺失与多种癌症的发生相关 CDH1 CDKN2A 9 CSF1R colony stimulating factor 1 receptor FMS; CSFR; FIM2; HDLS; C-FMS; associated with a predisposition to CD115; CSF-1R; M-myeloid malignancy. CSF-R 在这种基因突变已与易感性骨髓恶性肿瘤相关 CSF1R 和慢性骨髓单核细胞性白血病以及 M4 急性成髓细胞白血病相关 CSF1R 和 CSF1 都和乳腺癌相关 CSF1R 10 CTNNB1 catenin beta 1 CTNNB; MRD19; armadillo 11 EGFR epidermal growth factor receptor 12 ERBB2 erb-b2 receptor tyrosine kinase 2 13 ERBB4 erb-b2 receptor tyrosine kinase 4 ERBB; HER1; mena; ERBB1; PIG61; NISBD2 NEU; NGL; HER2; TKR1; CD340; HER-2; MLN 19; HER-2/neu HER4; ALS19; p180erbb4 a cause of colorectal cancer (CRC), pilomatrixoma (PTR), medulloblastoma (MDB), and ovarian cancer. associated with lung cancer. Amplification and/or overexpression of this gene has been reported in numerous cancers, including breast and ovarian tumors. associated with cancer. Alternatively spliced variants which encode different protein isoforms have been described; however, not all variants have been fully characterized. 在这个基因的突变是结肠直肠癌 ( 在这个基因的突变是结肠直肠癌 ( CRC)pilomatrixoma(PTR), 髓母 CRC)pilomatrixoma(PTR), 髓母细胞瘤 (MDB), 和卵巢癌的原因细胞瘤 (MDB), 和卵巢癌的原因在这种基因突变与肺癌有关扩增和 / 或该基因的过表达已经报道在许多癌症, 包括乳腺癌和卵巢肿瘤 EGFR 的 mrna 表达水平高低, 对 EGF R 靶向治疗效果, 会有显著差异 m RNA 表达水平高的非小细胞肺癌患者, 往往经针对 EGFR 的靶向治疗后有良好效果乳腺癌中 30% 有 ERBB2 的突变在这种基因突变已与癌症相关可 erbb4 与多种肿瘤相关, 尤其与乳腺变剪接变体, 其编码不同蛋白同种癌相关型已被描述 ; 然而, 并非所有的变体已被充分表征 CTNNB1 EGFR ERBB2 ERBB4

3 14 EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit WVS; ENX1; EZH1; KMT6; WVS2; ENX-1; EZH2b; KMT6A This protein may play a role in the hematopoietic and central nervous systems. Multiple alternatively splcied transcript variants encoding distinct isoforms have been identified for this gene. 这种蛋白可能在造血和中枢神经系 EZH2 的过量表达会导致多种原发的统的作用多或者 splcied 转录变异癌症体的编码不同的亚型已经确定了这个基因 EZH2 15 FBXW7 F-box and WD repeat domain containing 7 AGO; CDC4; FBW6; FBW7; hago; FBX30; FBXW6; SEL10; hcdc4; FBXO30; SEL-10 detected in ovarian and breast cancer cell lines, implicating the gene's potential role in the pathogenesis of human cancers. 在这个基因的突变在卵巢癌和乳腺在卵巢癌乳腺癌和结直肠癌发现癌细胞系中被检测到, 在人类癌症有 FBXW7 的突变的发病机制暗示该基因的潜在作用 FBXW7 16 FGFR1 Fibroblast growth factor receptor 1 17 FGFR2 Fibroblast growth factor receptor 2 CEK; FLG; HH2; OGD; ECCL; FLT2; KAL2; BFGFR; CD331; FGFBR; FLT-2; HBGFR; N- SAM; FGFR-1; HRTFDS; bfgf-r- 1 BEK; JWS; BBDS; CEK3; CFD1; ECT1; KGFR; TK14; TK25; BFR- 1; CD332; K-SAM Chromosomal aberrations involving this gene are associated with stem cell myeloproliferative disorder and stem cell leukemia lymphoma syndrome. associated with Crouzon syndrome, Pfeiffer syndrome, Craniosynostosis, Apert syndrome, Jackson-Weiss syndrome, Beare- Stevenson cutis gyrata syndrome, Saethre-Chotzen syndrome, and syndromic craniosynostosis. 该基因的染色体畸变与干细胞骨髓与肺鳞癌相关增生性病症相关的和干细胞白血病淋巴瘤综合征在这个基因的突变与克鲁宗综合征一个第 2 内含子的点突变与一种高, 菲佛综合征, 颅, 亚伯氏症, 杰乳腺癌风险相关克逊 - 魏斯综合征,BEARE - 史蒂文森表皮 gyrata 综合征,Saeth re- Chotzen 综合征和颅缝早闭综合征编码不同亚型多重选择性剪接转录变异体已经注意到了这个基因 FGFR1 FGFR2 18 FGFR3 Fibroblast growth factor receptor 3 ACH; CEK2; JTK4; CD333; HSFGFR3EX Mutations in this gene lead to craniosynostosis and multiple types of skeletal dysplasia. Three alternatively spliced transcript variants that encode different protein isoforms have been described. 突变这个基因导致颅缝早闭和多种缺少 FGFR3 与膀胱癌相关类型的骨骼发育不良的三个编码不同蛋白同种型的可变剪接转录物变体已有描述 FGFR3

4 19 FLT3 fms related tyrosine FLK2; STK1; kinase 3 CD135; FLK-2 20 GNA11 G protein subunit alpha 11 FBH; FBH2; FHH2; HHC2; GNA-11; HYPOC2 Mutations that result in the constitutive activation of this receptor result in acute myeloid leukemia and acute lymphoblastic leukemia. associated with hypocalciuric hypercalcemia type II (HHC2) and hypocalcemia dominant 2 (HYPOC2). Patients with HHC2 and HYPOC2 exhibit decreased or increased sensitivity, respectively, to changes in extracellular calcium concentrations. 导致在急性骨髓性白血病和急性淋巴细胞性白血病该受体结果的组成性活化的突变在这种基因突变与性低钙高钙血症 II 型 (HHC2) 和低钙血症显性 2(H YPOC2) 相关联患者 HHC2 和 HYP OC2 展品分别减少或增加的敏感性, 在细胞外钙离子浓度的变化 FLT3 的串联持拷贝数增加是急性髓性白血病中最常见的突变, 而且有这种突变也意味着预后不好乳癌前列腺癌葡萄膜黑色素瘤 FLT3 GNA11 22 GNAQ G protein subunit alpha q 21 GNAS GNAS complex locus GAQ; SWS; CMC1; G-ALPHA-q Mutations at this locus have been associated with problems in platelet activation and aggregation. A related pseudogene exists on chromosome 2. AHO; GSA; GSP; Mutations in this gene result in POH; GPSA; NESP; SCG6; SgVI; GNAS1; C20orf45 pseudohypoparathyroidism type 1a, pseudohypoparathyroidism type 1b, Albright hereditary osteodystrophy, pseudopseudohypoparathyroidism, McCune-Albright syndrome, progressive osseus heteroplasia, polyostotic fibrous dysplasia of bone, and some pituitary tumors. 在这个位点突变与在血小板激活和葡萄膜黑色素瘤聚集的问题有关一个相关的假基甲状腺癌因存在 2 号染色体上突变这个基因导致假性 1A 型假性 1B 与脑垂体瘤相关型, 奥尔布赖特的遗传性骨病,ps eudopseudohypoparathyroidism, 麦 - Albright 综合征, 进行性 osseus 发育异常, 骨多发性骨纤维异常增殖症, 有的垂体瘤 GNAQ GNAS 23 HNF1A HNF1 homeobox A HNF1; LFB1; TCF1; MODY3; TCF-1; HNF-1A; IDDM20 Defects in this gene are a cause of maturity onset diabetes of the young type 3 (MODY3) and also can result in the appearance of hepatic adenomas. Alternative splicing results in multiple transcript variants encoding different isoforms. 在这个基因的缺陷是年轻的 3 型 ( 肝腺瘤 MODY3) 的成年起病型糖尿病的一个原因, 也可导致肝腺瘤的外观在多个转录剪接变异体导致编码不同亚型 HNF1A

5 24 HRAS HRas protooncogene, GTPase CTLO; HAMSV; HRAS1; RASH1; p21ras; C-H-RAS; H-RASIDX; C- BAS/HAS; C-HA- RAS1 Defects in this gene are implicated in a variety of cancers, including bladder cancer, follicular thyroid cancer, and oral squamous cell carcinoma. Multiple transcript variants, which encode different isoforms, have been identified for this gene. 在这个基因的缺陷涉及各种癌症, 包括膀胱癌, 甲状腺滤泡状癌和口腔鳞状细胞癌的多个转录变异体, 其编码不同同种型, 已经确定了该基因 HRAS 与膀胱癌有密切的关系,HRAS 若发生 G12V G12S 突变, 则其活性就永久激活. HRAS 的突变与甲状腺癌肾癌也有关系 HRAS 25 IDH1 isocitrate dehydrogenase (NADP(+)) 1, cytosolic IDH; IDP; IDCD; IDPC; PICD; HEL- 216; HEL-S-26 The presence of this enzyme in peroxisomes suggests roles in the regeneration of NADPH for intraperoxisomal reductions 在过氧化物酶这种酶的存在表明在 NADPH 为 intraperoxisomal 削减再生作用 IDH1 的突变会导致干骺端软骨瘤病, 并且 IDH1 与胶质母细胞瘤相关. IDH1 28 IDH2 isocitrate dehydrogenase (NADP(+)) 2, mitochondrial IDH; IDP; IDHM; IDPM; ICD-M; D2HGA2; mnadp- IDH The protein encoded by this gene is the NADP(+)-dependent isocitrate dehydrogenase found in the mitochondria. It plays a role in intermediary metabolism and energy production. This protein may tightly associate or interact with the pyruvate dehydrogenase complex. Alternative splicing results in multiple transcript variants. 由该基因编码的蛋白质是 NADP(+ ) - 在线粒体中发现从属异柠檬酸脱氢酶它在中间代谢和能源生产的作用这种蛋白质可以紧密关联或与丙酮酸脱氢酶复合物相互作用选择性剪接结果在多个抄本变形 IDH2 突变导致了分化抑制, 并在不同的肿瘤背景下改变了 DNA 甲基化和过度增殖 T-cell 淋巴癌乳腺癌 IDH2 26 JAK2 Janus kinase 2 JTK10; THCYT3 This gene product is a protein tyrosine kinase involved in a specific subset of cytokine receptor signaling pathways. It has been found to be constituitively associated with the prolactin receptor and is required for responses to gamma interferon. Mice that do not express an active protein for this gene exhibit embryonic lethality associated with the absence of definitive erythropoiesis. 这个基因的产物是一种参与细胞因子受体信号通路的特定子集的蛋白酪氨酸激酶已发现与催乳素受体被 constituitively 相关联, 并且需要到 γ 干扰素应答小鼠不表达与不存在明确的红细胞生成的关联该基因表现出胚胎致死的活性的蛋白质在白血病人中发现在 TEL- JAK2 融合基因 T-cell 淋巴癌卵巢癌 JAK2

6 27 JAK3 Janus kinase 3 JAKL; LJAK; JAK-3; L-JAK; JAK3_HUMAN 29 KDR kinase insert domain receptor 30 KIT KIT proto-oncogene receptor tyrosine kinase FLK1; CD309; VEGFR; VEGFR2 PBT; SCFR; C-Kit; CD117 associated with autosomal SCID (severe combined immunodeficiency disease). Mutations of this gene are implicated in infantile capillary hemangiomas. associated with gastrointestinal stromal tumors, mast cell disease, acute myelogenous lukemia, and piebaldism. 在这种基因突变与常染色体的 SCID JAK1 JAK2 JAK3 的活化突变, 都 ( 重症联合免疫缺陷病 ) 相关联已被确认是血液性的癌症的病因这种基因突变有牵连的婴儿毛细血管瘤在这种基因突变与胃肠道间质瘤, 肥大细胞病, 急性骨髓性 lukemia 和斑驳病相关联肿瘤的生长和扩散依赖于血管生成肿瘤血管生成是一系列复杂的调控过程, 其中 VEGF 及其受体发挥着重要作用精细胞肿瘤中经常会有第 17 个外显子的突变, 而且这种肿瘤中还常常有 CD117 的过表达与白血病黑色素瘤胃肠道间质肿瘤相关 JAK3 KDR KIT 31 KRAS KRAS protooncogene, GTPase NS; NS3; CFC2; RALD; KRAS1; KRAS2; RASK2; KI- RAS; C-K-RAS; K- RAS2A; K-RAS2B; K-RAS4A; K- RAS4B The transforming protein that results is implicated in various malignancies, including lung adenocarcinoma, mucinous adenoma, ductal carcinoma of the pancreas and colorectal carcinoma. Alternative splicing leads to variants encoding two isoforms that differ in the C-terminal region. 该成果转化蛋白在各种恶性肿瘤, 与结直肠癌的关系密切 20% 的非包括肺腺癌, 粘液瘤, 胰腺和结直小细胞肺癌中有 KRAS 突变肠癌性导管癌牵连选择性剪接导致变体编码两种亚型, 在 C- 末端区域不同 KRAS 32 MET MET protooncogene, receptor tyrosine kinase HGFR; AUTS9; RCCP2; c-met; DFNB97 33 MLH1 mutl homolog 1 FCC2; COCA2; HNPCC; hmlh1; HNPCC2 associated with papillary renal cell carcinoma, hepatocellular carcinoma, and various head and neck cancers. Amplification and overexpression of this gene are also associated with multiple human cancers. This gene was identified as a locus frequently mutated in hereditary nonpolyposis colon cancer (HNPCC). 在这种基因突变与乳头状肾细胞癌 MET 基因倍培是透明细胞瘤的一个, 肝细胞癌, 和各种头部和颈部癌潜在生物标记物症相关联扩增和该基因的过表达也与多种人类癌症相关该基因被鉴定为在遗传性非息肉结肠直肠癌 (HNPCC) 频繁突变的轨迹 MLH1 基因的突变与遗传性非息肉结直肠癌有密切关系 MET MLH1

7 34 MPL MPL protooncogene, thrombopoietin receptor MPLV; TPOR; C- MPL; CD110; THCYT2 Upon binding of thrombopoietin CD110 is dimerized and the JAK family of non-receptor tyrosine kinases, as well as the STAT family, the MAPK family, the adaptor protein Shc and the receptors themselves become tyrosine phosphorylated. In 1990 an oncogene, v-mpl, was identified from the murine myeloproliferative leukemia virus that was capable of immortalizing bone marrow hematopoietic cells from different lineages. 在血小板的结合 CD110 二聚和 JAK 家 MPL 与骨髓增生白血病有关系族的非受体酪氨酸激酶, 以及 STAT 家族,MAPK 家族, 衔接蛋白的 Shc 和受体本身成为酪氨酸磷酸化 MPL 35 NOTCH1 notch 1 hn1; AOS5; TAN1; AOVD1 associated with aortic valve disease, Adams-Oliver syndrome, T-cell acute lymphoblastic leukemia, chronic lymphocytic leukemia, and head and neck squamous cell carcinoma. 在这种基因突变与主动脉瓣疾病, Notch1 与白血病相关亚当斯奥利弗综合征,T 细胞急性淋巴细胞性白血病, 慢性淋巴细胞性白血病, 以及头颈部鳞状细胞癌有关 NOTCH1 36 NPM1 Nucleophosmin B23; NPM associated with acute myeloid leukemia. 在这种基因突变与急性骨髓性白血病有关在多种肿瘤中都发现 NPM1 的上调突变或者染色体易位当 NPM 1 高表达时, 会抑制 P53/ARF 通路 NPM1 37 NRAS neuroblastoma RAS viral oncogene homolog NS6; CMNS; NCMS; ALPS4; N- ras; NRAS1 associated with somatic rectal cancer, follicular thyroid cancer, autoimmune lymphoproliferative syndrome, Noonan syndrome, and juvenile myelomonocytic leukemia. 在这种基因突变与躯体直肠癌, 甲与多种肿瘤相关状腺滤泡状癌, 自身免疫性淋巴增生综合征, 努南综合征, 和幼年粒 - 单核细胞白血病相关 NRAS

8 38 PDGFRA platelet derived growth factor receptor alpha GAS9; CD140A; PDGFR2; PDGFR- 2; RHEPDGFRA associated with idiopathic hypereosinophilic syndrome, somatic and familial gastrointestinal stromal tumors, and a variety of other cancers. 在这种基因突变与特发性嗜酸性细与胃肠道间质瘤有关系胞增多症, 躯体和家族性胃肠道基质肿瘤, 和各种其它癌症相关联 PDGFRA 39 PIK3CA phosphatidylinositol-mcm; CWS5; 4,5-bisphosphate 3- kinase catalytic subunit alpha MCAP; PI3K; CLOVE; MCMTC; PI3K-alpha; p110- alpha 40 PTEN phosphatase and tensin homolog BZS; DEC; CWS1; GLM2; MHAM; TEP1; MMAC1; PTEN1; 10q23del This gene has been found to be oncogenic and has been implicated in cervical cancers. This gene was identified as a tumor suppressor that is mutated in a large number of cancers at high frequency. 该基因已被发现是致癌及子宫颈癌有牵连该基因被确定为是在以高频率的大量癌症中突变的肿瘤抑制在许多肿瘤中, 都存在 PIK3 的突变这些突变大多数是导致激酶的活性更高在人类肿瘤中,PTEN 是最常见的被丢失的基因在前列腺肿瘤中,70 % 都有丢失至少一个拷贝在胶质母细胞瘤子宫内膜癌和前列腺癌中经常发现 PTEN 的失活突变 PT EN 的突变也会导致各种癌变倾向 PIK3CA PTEN 41 PTPN11 protein tyrosine phosphatase, nonreceptor type 11 CFC; NS1; JMML; SHP2; BPTP3; PTP2C; METCDS; PTP-1D; SH-PTP2; SH-PTP3 a cause of Noonan syndrome as well as acute myeloid leukemia. 在这个基因的突变是 Noonan 综合征的原因以及急性髓细胞性白血病带有 PTPN11 突变的患者, 很容易得少年单核细胞白血病在神经母细胞瘤, 黑色素瘤, 急性髓细胞性白血病, 乳腺癌, 肺癌, 结肠直肠癌中有发现 PTPN11 的活化突变有报道 :PTPN11 既有促癌的作用, 也有抑癌的作用 PTPN11 42 RB1 RB transcriptional corepressor 1 RB; prb; OSRC; pp110; p105-rb; PPP1R130 Defects in this gene are a cause of childhood cancer retinoblastoma (RB), bladder cancer, and osteogenic sarcoma 在该基因缺陷的儿童癌症视网膜母如果两个 RB1 等位基因都突变了, 细胞瘤 (RB), 膀胱癌和骨肉瘤的这人就会视网膜母细胞瘤, 并因此原因瞎掉 RB1 43 RET ret proto-oncogene PTC; MTC1; HSCR1; MEN2A; MEN2B; RET51; associated with the disorders multiple endocrine neoplasia, type CDHF12; CDHR16; IIA, multiple endocrine neoplasia, RET-ELE1 type IIB, Hirschsprung disease, and medullary thyroid carcinoma. 在这个基因的突变与疾病多发性内 RET 功能增强性的突变, 会导致 : 分泌肿瘤症 IIA 型, 多发性内分泌肿甲状腺髓样癌, 多发性内分泌瘤形瘤症 IIB 型, 先天性巨结肠病和甲状成 (2A 型, 和 2B 型 ), 嗜铬细胞瘤腺髓样癌相关联和甲状旁腺增生 RET

9 44 SMAD4 SMAD family member 4 JIP; DPC4; MADH4; MYHRS Mutations or deletions in this gene have been shown to result in pancreatic cancer, juvenile polyposis syndrome, and hereditary hemorrhagic telangiectasia syndrome. 在这个基因的突变或缺失已显示导致胰腺癌, 幼年性息肉病综合征和遗传性出血性毛细血管扩张症在结直肠癌和胰腺癌中经常发现有 SMAD4 的突变它也在常染色体显性遗传病幼年性息肉综合症中被发现有突变, 这些息肉很可以发展成结肠癌 SMAD4 45 SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 RDT; CSS3; INI1; SNF5; Snr1; BAF47; MRD15; RTPS1; Sfh1p; hsnfs; SNF5L1; SWNTS1; PPP1R144 mutations in it have been associated with malignant rhabdoid tumors. 在它的突变已经与恶性横纹肌样瘤有关是一个肿瘤抑制基因, 与恶性横纹肌样瘤有关系 SMARCB1 46 SMO smoothened, frizzled class receptor Gx; CRJS; SMOH; FZD11 The protein encoded by this gene is a G protein-coupled receptor that interacts with the patched protein, a receptor for hedgehog proteins. The encoded protein tranduces signals to other proteins after activation by a hedgehog protein/patched protein complex. 由该基因编码的蛋白质是 G 蛋白偶合受体与该修补的蛋白质, 对刺猬蛋白的受体相互作用所编码的蛋白质通过刺猬蛋白 / 修补蛋白质复合 tranduces 信号以活化后的其它蛋白质 SMO 是一个原癌基因, 如果发生活化突变, 会导致 hedgehog pathway 信号通路的活化, 并致癌肺癌结直肠癌胰腺癌 SMO 47 SRC SRC protooncogene, nonreceptor tyrosine kinase ASV; SRC1; THC6; c-src; p60-src Mutations in this gene could be involved in the malignant progression of colon cancer. 在这个基因的突变可能是参与结肠癌的恶性进展 50% 的结肠癌肝癌肺癌乳腺癌和胰腺癌与 Src 通路的激活有关 SRC

10 48 STK11 serine/threonine kinase 11 PJS; LKB1; hlkb1 This gene, which encodes a member of the serine/threonine kinase family, regulates cell polarity and functions as a tumor suppressor. associated with Peutz-Jeghers syndrome, an autosomal dominant disorder characterized by the growth of polyps in the gastrointestinal tract, pigmented macules on the skin and mouth, and other neoplasms. 这个基因, 其编码的丝氨酸 / 苏氨酸激酶家族的一个成员, 调节细胞极性和用作肿瘤抑制基因在这种基因突变与黑斑息肉综合征, 常染色体显性遗传疾病在胃肠道特征息肉的生长有关, 对皮肤和嘴和其他肿瘤色素斑最近的研究发现在宫颈乳腺肠睾丸胰腺和皮肤癌中大量存在 STK11 的体细胞突变 STK11 49 TP53 tumor protein p53 P53; BCC7; LFS1; TRP53 50 VHL von Hippel-Lindau tumor suppressor RCA1; VHL1; pvhl; HRCA1 associated with a variety of human cancers, including hereditary cancers such as Li-Fraumeni syndrome. Von Hippel-Lindau syndrome (VHL) is a dominantly inherited familial cancer syndrome predisposing to a variety of malignant and benign tumors. A germline mutation of this gene is the basis of familial inheritance of VHL syndrome. 在这种基因突变与多种人类癌症, 70% 以上的肿瘤带有 TP53 的突变 T 包括遗传性癌症如李弗劳明综合征 P53 是最著名的抑癌基因有关希佩尔 - 林道综合征 (VHL) 是一种显性遗传的家族性癌症综合征的诱发各种恶性肿瘤和良性肿瘤这种基因的胚系突变是 VHL 综合征的家族继承的基础 VHL 突变是一种显性遗传突变, 会得 Von Hippel Lindau 综合症, 会诱发眼, 脑脊髓肾脏胰脏和肾上腺多种的的恶性和良性肿瘤当第 2 个拷贝再发生突变时, 就会生肿瘤 TP53 VHL

ALK 全名 :Anaplastic lymphoma kinase, 位于 2 号染色体上功能 :ALK 在神经发育过程中起重要作用, 是正调控元件与肿瘤的关系 :EML4-ALK 融合基因占非小细胞肺癌中的 3

ALK 全名 :Anaplastic lymphoma kinase, 位于 2 号染色体上功能 :ALK 在神经发育过程中起重要作用, 是正调控元件与肿瘤的关系 :EML4-ALK 融合基因占非小细胞肺癌中的 3 基因列表 : 选自 Life 公司出品的 Cancer Panel 中的 50 个基因资料来源 : 陈巍学基因的博客 ABL1 全名 :Abelson murine leukemia viral oncogene homolog 1 ABL1 基因位于第 9 号染色体上临床作用 : 当 BRA 基因与 ABL1 基因型成