【佳學(xué)基因檢測】主治醫(yī)師基因測試EGFR內(nèi)容要點(diǎn)

基因檢測的序列名稱：

EGFR

人體基因序列變化與疾病表征數(shù)據(jù)庫中的基因代碼：

1956

人體基因序列數(shù)據(jù)庫中國際交流名稱全稱

epidermal growth factor receptor

中國數(shù)據(jù)庫中基因全稱：

表皮生長因子受體

基因檢測報(bào)告英文版基因簡介

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]

基因突變所影響的基因信息

該基因編碼的蛋白是跨膜糖蛋白，它是蛋白激酶超家族的成員。該蛋白是表皮生長因子家族成員的受體。EGFR是與表皮生長因子結(jié)合的細(xì)胞表面蛋白。蛋白質(zhì)與配體的結(jié)合誘導(dǎo)受體二聚化和酪氨酸自磷酸化并導(dǎo)致細(xì)胞增殖。該基因的突變與肺癌有關(guān)。[由RefSeq提供，2016年6月]

國際國內(nèi)該堿基基因序列的其他英語文字母簡稱：

ERBB, ERBB1, HER1, NISBD2, PIG61, mENA

基因解碼對(duì)該基因序列在細(xì)胞核中的染色體所給予的編號(hào)：

該基因序列位于人類第7號(hào)染色體上。

基因解碼對(duì)基因序列的正確定位

該基因序列在GRCh37版本中的起始位置坐標(biāo)為：55086678；結(jié)束位置坐標(biāo)為：55279262。該基因序列在GRCh38版本中的起始位置坐標(biāo)為：55019032；結(jié)束位置坐標(biāo)為：55207338。正確的基因信息定位是基因檢測和對(duì)檢測結(jié)果進(jìn)行正確解讀的關(guān)鍵。

佳學(xué)基因解碼對(duì)該基因的功能分類：國際版

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

基因解碼對(duì)該基因的功能分類：中文版

酶/{ENZYME proteins/Transferases,Kinases/Tyr protein kinases};RAS通路相關(guān)蛋白

結(jié)構(gòu)與功能基因解碼所揭示的該基因在細(xì)胞內(nèi)發(fā)揮作用的場所（國際版）：

Plasma membrane

結(jié)構(gòu)與功能基因解碼所揭示的該基因發(fā)揮作用的細(xì)胞內(nèi)位置（中文版）：

質(zhì)膜（增強(qiáng)型）

該基因序列變化后增加的疾病風(fēng)險(xiǎn)（國際版）：

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

如果該基因突變后，風(fēng)險(xiǎn)可能增加的疾病類型（中文版）：

膽管腫瘤；炎癥性皮膚和腸道疾病新生兒2型；反復(fù)性細(xì)支氣管炎；常染色體隱性多囊腎病；鼻咽腫瘤；粉刺;膿包;膽囊腫瘤;巨細(xì)胞膠質(zhì)母細(xì)胞瘤；腺瘤性結(jié)腸息肉??；細(xì)支氣管肺泡腺癌；膠質(zhì)肉瘤;直腸腫瘤；腎上腺皮質(zhì)癌；膽管癌；乳頭狀瘤;頭頸腫瘤；子宮頸腫瘤；肺部傳染?。欢喟l(fā)性肺部感染；反復(fù)性肺炎；反復(fù)肺部感染；腫瘤反復(fù)局部；氯痤瘡；大麻濫用；長長的睫毛;間皮瘤;關(guān)節(jié)炎實(shí)驗(yàn)性的；肺癌小細(xì)胞癌；濫用酒精;骨肉瘤;丘疹;肺腺癌（疾病）；食道腫瘤；急性腎損傷；胰島素抵抗;膠質(zhì)母細(xì)胞瘤；食道鱗狀細(xì)胞癌；心肌病擴(kuò)張型；卵巢腫瘤;惡性間皮瘤;非小細(xì)胞肺癌；嘔吐；腺癌；膀胱腫瘤；鱗狀細(xì)胞癌;血壓升高；結(jié)腸腫瘤；動(dòng)物乳腺腫瘤；腫瘤侵襲；顱面異常；乳腺腫瘤實(shí)驗(yàn)性的；子宮內(nèi)膜異位癥；糖尿病非胰島素依賴性；腫瘤轉(zhuǎn)移；肺腫瘤；結(jié)直腸腫瘤；肝癌；單極抑郁癥；嚴(yán)重抑郁癥;酒精中毒慢性；高血壓??；胃腫瘤；未能增加體重；兒科發(fā)育不良；乳腺腫瘤；前列腺腫瘤；常染色體隱性易感性

GWAS基因檢測所建立的與該基因的疾病關(guān)聯(lián)（國際版）：

Glioma

GWAS基因檢測所解碼的該基因突變會(huì)增加風(fēng)險(xiǎn)的疾病種類（中文版）：

膠質(zhì)瘤

以該基因做靶點(diǎn)的藥物（國際版）：

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)

針對(duì)該基因所產(chǎn)生的突變，可能有正確效果的藥物（中文版）：

西妥昔單抗（泛素蛋白連接酶結(jié)合）;曲妥珠單抗（泛素蛋白連接酶結(jié)合）;利多卡因（泛素蛋白連接酶結(jié)合）;吉非替尼（泛素蛋白連接酶結(jié)合）;厄洛替尼（泛素蛋白連接酶結(jié)合）;拉帕替尼（泛素蛋白連接酶結(jié)合）;帕尼單抗（泛素蛋白連接酶結(jié)合）；Flavopiridol（泛素蛋白連接酶結(jié)合）；IGN311（泛素蛋白連接酶結(jié)合）；Matuzumab（泛素蛋白連接酶結(jié)合）；Vandetanib（泛素蛋白連接酶結(jié)合）；HuMax-EGFr（泛素蛋白連接酶結(jié)合）；CDX- 110（泛素蛋白連接酶結(jié)合）；CI-1033（泛素蛋白連接酶結(jié)合）；IMC-11F8（泛素蛋白連接酶結(jié)合）；INSM-18（泛素蛋白連接酶結(jié)合）；S-{3-[(4-ANILINOQUINAZOLIN-6 -YL)AMINO]-3-OXOPROPYL}-L-CYSTEINE（泛素蛋白連接酶結(jié)合）；N-[4-(3-BROMO-PHENYLAMINO)-QUINAZOLIN-6-YL]-ACRYLAMIDE（泛素蛋白連接酶結(jié)合）；阿法替尼（泛素蛋白連接酶結(jié)合）；Osimertinib（泛素蛋白連接酶結(jié)合）；Necitumumab（泛素蛋白連接酶結(jié)合）