【佳学基因检测】主治医师基因测试EGFR内容要点

基因检测的序列名称：

EGFR

人体基因序列变化与疾病表征数据库中的基因代码：

1956

人体基因序列数据库中国际交流名称全称

epidermal growth factor receptor

中国数据库中基因全称：

表皮生长因子受体

基因检测报告英文版基因简介

The protein encoded by this gene is a transmembrane glycoprotein that is a member of the protein kinase superfamily. This protein is a receptor for members of the epidermal growth factor family. EGFR is a cell surface protein that binds to epidermal growth factor. Binding of the protein to a ligand induces receptor dimerization and tyrosine autophosphorylation and leads to cell proliferation. Mutations in this gene are associated with lung cancer. [provided by RefSeq, Jun 2016]

基因突变所影响的基因信息

该基因编码的蛋白是跨膜糖蛋白，它是蛋白激酶超家族的成员。该蛋白是表皮生长因子家族成员的受体。EGFR是与表皮生长因子结合的细胞表面蛋白。蛋白质与配体的结合诱导受体二聚化和酪氨酸自磷酸化并导致细胞增殖。该基因的突变与肺癌有关。[由RefSeq提供，2016年6月]

国际国内该碱基基因序列的其他英语文字母简称：

ERBB, ERBB1, HER1, NISBD2, PIG61, mENA

基因解码对该基因序列在细胞核中的染色体所给予的编号：

该基因序列位于人类第7号染色体上。

基因解码对基因序列的正确定位

该基因序列在GRCh37版本中的起始位置坐标为：55086678；结束位置坐标为：55279262。该基因序列在GRCh38版本中的起始位置坐标为：55019032；结束位置坐标为：55207338。正确的基因信息定位是基因检测和对检测结果进行正确解读的关键。

佳学基因解码对该基因的功能分类：国际版

Enzymes/{ENZYME proteins/Transferases,Kinases/Tyr protein kinases};RAS pathway related proteins

基因解码对该基因的功能分类：中文版

酶/{ENZYME proteins/Transferases,Kinases/Tyr protein kinases};RAS通路相关蛋白

结构与功能基因解码所揭示的该基因在细胞内发挥作用的场所（国际版）：

Plasma membrane

结构与功能基因解码所揭示的该基因发挥作用的细胞内位置（中文版）：

质膜（增强型）

该基因序列变化后增加的疾病风险（国际版）：

Bile Duct Neoplasms; INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2; Recurrent bronchiolitis; Autosomal Recessive Polycystic Kidney Disease; Nasopharyngeal Neoplasms; Pimples; pustule; gallbladder neoplasm; Giant Cell Glioblastoma; Adenomatous Polyposis Coli; Bronchioloalveolar Adenocarcinoma; gliosarcoma; Rectal Neoplasms; Adrenocortical carcinoma; Cholangiocarcinoma; Papilloma; Head and Neck Neoplasms; Uterine Cervical Neoplasm; Infectious disease of lung; Multiple pulmonary infections; Recurrent pneumonia; Recurrent pulmonary infections; Neoplasm Recurrence, Local; Chloracne; Marijuana Abuse; Long eyelashes; Mesothelioma; Arthritis, Experimental; Small cell carcinoma of lung; Alcohol abuse; Osteosarcoma; Papule; Adenocarcinoma of lung (disorder); Esophageal Neoplasms; Acute kidney injury; Insulin Resistance; Glioblastoma; Squamous cell carcinoma of esophagus; Cardiomyopathy, Dilated; ovarian neoplasm; Malignant mesothelioma; Non-Small Cell Lung Carcinoma; Vomiting; Adenocarcinoma; Bladder Neoplasm; Squamous cell carcinoma; Increase in blood pressure; Colonic Neoplasms; Animal Mammary Neoplasms; Neoplasm Invasiveness; Craniofacial Abnormalities; Mammary Neoplasms, Experimental; Endometriosis; Diabetes Mellitus, Non-Insulin-Dependent; Neoplasm Metastasis; Lung Neoplasms; Colorectal Neoplasms; Liver carcinoma; Unipolar Depression; Major Depressive Disorder; Alcoholic Intoxication, Chronic; Hypertensive disease; Stomach Neoplasms; Failure to gain weight; Pediatric failure to thrive; Mammary Neoplasms; Prostatic Neoplasms; Autosomal recessive predisposition

如果该基因突变后，风险可能增加的疾病类型（中文版）：

胆管肿瘤；炎症性皮肤和肠道疾病新生儿2型；反复性细支气管炎；常染色体隐性多囊肾病；鼻咽肿瘤；粉刺;脓包;胆囊肿瘤;巨细胞胶质母细胞瘤；腺瘤性结肠息肉病；细支气管肺泡腺癌；胶质肉瘤;直肠肿瘤；肾上腺皮质癌；胆管癌；乳头状瘤;头颈肿瘤；子宫颈肿瘤；肺部传染病；多发性肺部感染；反复性肺炎；反复肺部感染；肿瘤反复局部；氯痤疮；大麻滥用；长长的睫毛;间皮瘤;关节炎实验性的；肺癌小细胞癌；滥用酒精;骨肉瘤;丘疹;肺腺癌（疾病）；食道肿瘤；急性肾损伤；胰岛素抵抗;胶质母细胞瘤；食道鳞状细胞癌；心肌病扩张型；卵巢肿瘤;恶性间皮瘤;非小细胞肺癌；呕吐；腺癌；膀胱肿瘤；鳞状细胞癌;血压升高；结肠肿瘤；动物乳腺肿瘤；肿瘤侵袭；颅面异常；乳腺肿瘤实验性的；子宫内膜异位症；糖尿病非胰岛素依赖性；肿瘤转移；肺肿瘤；结直肠肿瘤；肝癌；单极抑郁症；严重抑郁症;酒精中毒慢性；高血压病；胃肿瘤；未能增加体重；儿科发育不良；乳腺肿瘤；前列腺肿瘤；常染色体隐性易感性

GWAS基因检测所建立的与该基因的疾病关联（国际版）：

Glioma

GWAS基因检测所解码的该基因突变会增加风险的疾病种类（中文版）：

胶质瘤

以该基因做靶点的药物（国际版）：

Cetuximab (Ubiquitin protein ligase binding);Trastuzumab (Ubiquitin protein ligase binding);Lidocaine (Ubiquitin protein ligase binding);Gefitinib (Ubiquitin protein ligase binding);Erlotinib (Ubiquitin protein ligase binding);Lapatinib (Ubiquitin protein ligase binding);Panitumumab (Ubiquitin protein ligase binding);Flavopiridol (Ubiquitin protein ligase binding);IGN311 (Ubiquitin protein ligase binding);Matuzumab (Ubiquitin protein ligase binding);Vandetanib (Ubiquitin protein ligase binding);HuMax-EGFr (Ubiquitin protein ligase binding);CDX-110 (Ubiquitin protein ligase binding);CI-1033 (Ubiquitin protein ligase binding);IMC-11F8 (Ubiquitin protein ligase binding);INSM-18 (Ubiquitin protein ligase binding);S-{3-[(4-ANILINOQUINAZOLIN-6-YL)AMINO]-3-OXOPROPYL}-L-CYSTEINE (Ubiquitin protein ligase binding);N-[4-(3-BROMO-PHENYLAMINO)-QUINAZOLIN-6-YL]-ACRYLAMIDE (Ubiquitin protein ligase binding);Afatinib (Ubiquitin protein ligase binding);Osimertinib (Ubiquitin protein ligase binding);Necitumumab (Ubiquitin protein ligase binding)

针对该基因所产生的突变，可能有正确效果的药物（中文版）：

西妥昔单抗（泛素蛋白连接酶结合）;曲妥珠单抗（泛素蛋白连接酶结合）;利多卡因（泛素蛋白连接酶结合）;吉非替尼（泛素蛋白连接酶结合）;厄洛替尼（泛素蛋白连接酶结合）;拉帕替尼（泛素蛋白连接酶结合）;帕尼单抗（泛素蛋白连接酶结合）；Flavopiridol（泛素蛋白连接酶结合）；IGN311（泛素蛋白连接酶结合）；Matuzumab（泛素蛋白连接酶结合）；Vandetanib（泛素蛋白连接酶结合）；HuMax-EGFr（泛素蛋白连接酶结合）；CDX- 110（泛素蛋白连接酶结合）；CI-1033（泛素蛋白连接酶结合）；IMC-11F8（泛素蛋白连接酶结合）；INSM-18（泛素蛋白连接酶结合）；S-{3-[(4-ANILINOQUINAZOLIN-6 -YL)AMINO]-3-OXOPROPYL}-L-CYSTEINE（泛素蛋白连接酶结合）；N-[4-(3-BROMO-PHENYLAMINO)-QUINAZOLIN-6-YL]-ACRYLAMIDE（泛素蛋白连接酶结合）；阿法替尼（泛素蛋白连接酶结合）；Osimertinib（泛素蛋白连接酶结合）；Necitumumab（泛素蛋白连接酶结合）