【佳学基因检测】结婚前基因评估分析，发现BRAF基因突变，怎么办？

基因检测的序列名称：

BRAF

人体基因序列变化与疾病表征数据库中的基因代码：

673

人体基因序列数据库中国际交流名称全称

B-Raf proto-oncogene, serine/threonine kinase

中国数据库中基因全称：

B-Raf原癌基因，丝氨酸/苏氨酸激酶

基因检测报告英文版基因简介

This gene encodes a protein belonging to the RAF family of serine/threonine protein kinases. This protein plays a role in regulating the MAP kinase/ERK signaling pathway, which affects cell division, differentiation, and secretion. Mutations in this gene, most commonly the V600E mutation, are the most frequently identified cancer-causing mutations in melanoma, and have been identified in various other cancers as well, including non-Hodgkin lymphoma, colorectal cancer, thyroid carcinoma, non-small cell lung carcinoma, hairy cell leukemia and adenocarcinoma of lung. Mutations in this gene are also associated with cardiofaciocutaneous, Noonan, and Costello syndromes, which exhibit overlapping phenotypes. A pseudogene of this gene has been identified on the X chromosome. [provided by RefSeq, Aug 2017]

基因突变所影响的基因信息

该基因编码属于丝氨酸/苏氨酸蛋白激酶的RAF家族的蛋白。该蛋白在调节MAP激酶/ ERK信号传导途径中起作用，影响细胞分裂，分化和分泌。该基因的突变（贼常见的是V600E突变）是黑色素瘤中贼常见的致癌突变，并且已在其他各种癌症中得到鉴定，包括非霍奇金淋巴瘤，结肠直肠癌，甲状腺癌，非小细胞癌肺癌，毛细胞白血病和肺腺癌。该基因的突变还与表现出重叠表型的心脏面部皮肤，Noonan和Costello综合征有关。该基因的假基因已在X染色体上鉴定。[由RefSeq提供，2017年8月]

国际国内该碱基基因序列的其他英语文字母简称：

B-RAF1, B-raf1, NS7, RAFB1, BRAF

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精准定位

该基因序列在GRCh37版本中的起始位置坐标为：140415749；结束位置坐标为：140624564。该基因序列在GRCh38版本中的起始位置坐标为：140719331；结束位置坐标为：140924764。精准的基因信息定位是基因检测和对检测结果进行准确解读的关键。

佳学基因解码对该基因的功能分类：国际版

Enzymes/{ENZYME proteins/Transferases,Kinases/TKL Ser/Thr protein kinases}

基因解码对该基因的功能分类：中文版

酶/{ENZYME proteins/Transferases,Kinases/TKL Ser/Thr protein kinases}

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）：

Cytosol;Vesicles

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）：

胞质溶胶；囊泡

该基因序列变化后增加的疾病风险（国际版）：

Baby eczema; EARLOBE CREASE; Hashimoto-Pritzker syndrome; LEOPARD SYNDROME 3; Mandibular Neoplasms; Multiple palmar creases; Multiple plantar creases; NOONAN SYNDROME 7; Ameloblastoma; Bitemporal Hemianopia; Hairy Cell Leukemia; Intracranial cystic lesion; Neoplasm of the anterior pituitary; Pituitary gland enlarged; Tongue thrusting; Visual field tests abnormal; Abnormal hypothalamus morphology; Abnormality of the mitral valve; Carcinoma of lung; Congenital bronchogenic cyst; Craniopharyngioma; Hypomelanotic macule; Progressive visual field defects; Skin nodule; Anomalous pulmonary artery; Malignant Peripheral Nerve Sheath Tumor; Pectus carinatum superiorly; Central Diabetes Insipidus; Factor XII Deficiency; LEOPARD Syndrome; Neurofibrosarcoma; Numerous nevi; Pectus excavatum inferiorly; Reduced factor XIII activity; Severe sensorineural hearing impairment; Amegakaryocytic thrombocytopenia; Cardio-facio-cutaneous syndrome; Costello syndrome (disorder); Optic nerve dysplasia; Secondary Adrenal Insufficiency; Hyperextensible digits; Papilledema; Partial to total absence of eyelashes; Pilocytic Astrocytoma; Sparse or absent eyelashes; Sparse to absent eyelashes; Synovitis; Broad chest; Bundle-Branch Block; Colorectal Cancer; Deep palmar crease; Shield chest; Abnormality of aortic valve; Frontal lobe hypoplasia; Submucous clefting; Abnormality of the ulna; Carcinogenesis; Hyperprolactinemia; Multiple lentigines; Senile lentigo; Neuroendocrine Tumors; Submucous cleft of hard palate; Abnormal platelet function; Relative macrocephaly; Abnormality of the spleen; Absent eyebrow; Agenesis of eyebrows; Aplasia of eyebrows; Decreased visual acuity, slowly progressive; Madarosis of eyebrow; Slow decrease in visual acuity; Bronchioloalveolar Adenocarcinoma; Curly hair (finding); Secondary hypothyroidism; Microsatellite Instability; Somnolence; Thickened helices; Abnormal hair quantity; Absent eyelashes; Aplasia of eyelashes; Excessive wrinkled skin; Failure of development of eyelashes; Sprengel deformity; ATRIOVENTRICULAR CANAL DEFECT; Aplasia/Hypoplasia of the abdominal wall musculature; Cafe au lait spots, multiple; Endocardial Cushion Defects; Long palpebral fissure; Noonan Syndrome; Acquired cubitus valgus; Dystrophic fingernails; Enlarged thorax; Slow-growing hair; Hemangioma, Cavernous; Pulmonary artery stenosis; Deep philtrum; Depressed philtrum; Lymphangioma, Cystic; Lymphatic obstruction; Onset of lymphedema around puberty; Open Bite; Adrenocortical carcinoma; Depressed cheekbone; Flattening of the zygomatic bone; Generalized hyperpigmentation; Hypoplasia of the zygomatic bone; Hypotrophic cheekbone; Lymphedema; Small cheekbone; Abnormality of pulmonary valve; Hypoplasia or absence of the corpus callosum; Lymphoma, Non-Hodgkin; Lymphoma, T-Cell, Cutaneous; Scapular weakness; Winged scapula; Abnormal dermatoglyphic pattern; Brittle hair; Defective or absent horizontal voluntary eye movements; Fractured hair; Fragile hair; Oculomotor apraxia; Reduced tensile strength of hair; Sezary Syndrome; Biparietal narrowing; Coagulation abnormalities; Decreased width of the skull; Noncancerous mole; Astrocytoma; Kidney Neoplasm; Aortic coarctation; Excess nuchal skin; Coarse hair; Hemorrhagic Disorders; Rough hair texture; Absence of eyebrows; Aplasia/Hypoplasia of the eyebrow; High, narrow palate; Lytic lesion; Skin hyperelastic; Sparse or absent eyebrows; Sparse/absent eyebrows; Decreased fertility; Freckles; Papillary thyroid carcinoma; Failure to thrive in infancy; Neck webbing; Decreased visual acuity, progressive; Progressive visual loss; Bleeding tendency; Dermatitis, Atopic; Headache; Narrow forehead; Thyroid Neoplasm; Radially deviated fingers; Underdeveloped brows; Underdeveloped supraorbital ridges; Abnormality of vision; Mitral Valve Prolapse Syndrome; Ichthyoses; Blood Coagulation Disorders; Fine hair; Melanocytic nevus; Papule; Hyperkeratosis; Open mouth; Pulmonary Stenosis; Tetralogy of Fallot; Wide spaced nipples; Bulbous nasal tip; Bulbous nose; Potato nose; Cerebral calcification; Chubby cheeks; Full cheeks; Hyperplasia of cheeks; Hypertrophy of cheeks; Puffy cheeks; Low posterior hairline; Congenital pectus carinatum; Angle class 2 malocclusion; Angle class 3 malocclusion; Malocclusion; Postnatal growth retardation; Triangular face; Adenocarcinoma of lung (disorder); Congenital clinodactyly; Curvature of digit; Kyphoscoliosis deformity of spine; Palmoplantar Keratosis; Posteriorly rotated ear; Sparse hair; Thin, sparse hair; Full lower lip; Neonatal Hypotonia; Prominent lower lip; Bulging forehead; Premature birth of newborn; Prominent forehead; Hydronephrosis; Male infertility; Long face; Hypogonadism, Isolated Hypogonadotropic; Hypogonadotropic hypogonadism; Dry skin; Heartburn; Premature Birth; Xerosis; Patent ductus arteriosus; Glioma; Joint hyperflexibility; Long narrow head; Narrow cranium shape; Narrow head shape; Narrow skull shape; Turridolichocephaly; Gastroesophageal reflux disease; Cardiac conduction abnormalities; EKG abnormalities; Electrocardiogram change; Conduction disorder of the heart; Electrocardiogram abnormal; Polyhydramnios; Atrial Septal Defects; Large auricle; Large dysplastic ears; Large pinnae; Large prominent ears; Large protruding ears; Large, floppy ears; Macrotia; Muscle Hypertonia; Hypertrophic Cardiomyopathy; Exophthalmos; Prominent eyes; Prominent globes; Protruding eyes; Generalized osteopenia; Osteopenia; Cardiac Arrhythmia; Nausea and vomiting; Pectus excavatum; Electroencephalogram abnormal; High forehead; Tall forehead; Decreased projection of midface; Hypotrophic midface; Midface retrusion; Small midface; Coarse facial features; Thickened facial skin with coarse facial features; Bilateral fifth finger clinodactyly; Curvature of little finger; Low-set, posteriorly rotated ears; Hydrocephalus; Vomiting; Growth delay; Growth failure; Growth retardation; Poor growth; Very poor growth; Myopia; Ventricular Septal Defects; Liver neoplasms; Brachydactyly; Short nose; Small nose; Delayed bone age; Long philtrum; Dyschezia; Prenatal onset; Short neck; Constipation; Big calvaria; Increased head circumference; Increased size of cranium; Increased size of skull; Frontal bossing; Downward slant of palpebral fissure; Feeding difficulties in infancy; Infant, Small for Gestational Age; Intrauterine retardation; Congenital Epicanthus; Low set ears; Muscle Weakness; Cerebral atrophy; Congenital deafness; Fetal Growth Retardation; Hearing Loss, Partial; Splenomegaly; Anteverted nostril; Dysarthria; Byzanthine arch palate; Concave bridge of nose; Depressed nasal bridge; Depressed nasal root/bridge; Deafness; hearing impairment; Lung Neoplasms; melanoma; Colorectal Neoplasms; Broad flat nasal bridge; Nasal bridge wide; Blepharoptosis; Liver carcinoma; Orbital separation excessive; Hepatomegaly; Cryptorchidism; Strabismus; Obesity; Hypoplastic mandible condyle; Mandibular hypoplasia; Micrognathism; Acquired scoliosis; Curvature of spine; Sensorineural Hearing Loss (disorder); Nystagmus; Failure to gain weight; Pediatric failure to thrive; Prostatic Neoplasms; Short stature; Epilepsy; Muscle hypotonia; Seizures; Cognitive delay; Global developmental delay; Mental and motor retardation; Dull intelligence; Low intelligence; Mental Retardation; Mental deficiency; Poor school performance; Intellectual Disability; 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）：

婴儿湿疹；耳垂折痕；桥本-普利兹克综合症；豹纹综合症 2型；下颌骨肿瘤；多个手掌折痕；多个足底折痕；努南综合症 2型；成釉细胞瘤;双侧偏盲；毛细胞白血病；颅内囊性病变；垂体前叶肿瘤;脑下垂体增大；吐舌头；视野检查异常；下丘脑形态异常；二尖瓣异常;肺癌；先天性支气管囊肿；颅咽管瘤;色素减退斑；进行性视野缺损；皮肤结节；肺动脉异常；恶性周围神经鞘瘤；鸡胸优越；中枢性尿崩症；因子 XII 缺乏；豹综合症；神经纤维肉瘤；许多痣;漏斗胸下；因子 XIII 活性降低；严重的感音神经性听力障碍；无巨核细胞性血小板减少症；心面皮肤综合征； Costello 综合征（紊乱）；视神经发育不良；继发性肾上腺功能不全；可过度伸展的手指；视乳头水肿；部分或完全没有睫毛；毛细胞星形细胞瘤；睫毛稀疏或缺失；稀疏到没有睫毛；滑膜炎;宽阔的胸膛；束支阻滞；结直肠癌；深掌折痕；盾牌胸；主动脉瓣异常；额叶发育不全;粘膜下裂；尺骨异常;致癌作用；高泌乳素血症；多种雀斑；老年斑；神经内分泌肿瘤；硬腭粘膜下裂；血小板功能异常；相对巨头畸形；脾脏异常;没有眉毛；眉毛发育不全;眉毛发育不全；视力下降缓慢进行；眉毛病;视力缓慢下降；细支气管肺泡腺癌；卷发（发现）；继发性甲状腺功能减退症;微卫星不稳定性；嗜睡；加厚螺旋；头发数量异常；没有睫毛；睫毛发育不全；皮肤皱纹过多；睫毛发育不良； Sprengel 畸形；房室管缺陷；腹壁肌肉组织发育不全/发育不全； Cafe au lait 点多个；心内膜垫缺损；长睑裂；努南综合症；获得性肘外翻；指甲营养不良；胸部扩大；头发生长缓慢；血管瘤海绵状；肺动脉狭窄；深人中;抑郁的人中；淋巴管瘤囊性；淋巴阻塞;青春期前后出现淋巴水肿；打开咬合；肾上腺皮质癌；颧骨凹陷；颧骨变平；广义色素沉着；颧骨发育不全;颧骨肥大；淋巴水肿；小颧骨；肺动脉瓣异常；胼胝体发育不全或缺失；淋巴瘤非霍奇金；淋巴瘤T 细胞皮肤；肩胛无力；翼状肩胛;异常的皮纹图案；脆弱的头发;水平随意眼球运动有缺陷或缺失；头发断裂；脆弱的头发;动眼神经失用症；头发的抗拉强度降低；塞扎里综合症；双顶骨变窄；凝血异常；颅骨宽度减小；非癌性痣；星形细胞瘤；肾肿瘤；主动脉缩窄；颈部皮肤过多；头发粗；出血性疾病；毛发质地粗糙；没有眉毛；眉毛发育不全/发育不全；高而窄的上颚；裂解性病变；皮肤超弹性；眉毛稀疏或缺失；稀疏/没有眉毛；生育能力下降；雀斑；甲状腺乳头状癌；未能在婴儿期茁壮成长；颈带;视力下降进行性；进行性视力丧失；出血倾向；皮炎特应性；头痛;额头窄；甲状腺肿瘤；径向偏离的手指;眉毛不发达；眶上脊发育不全；视力异常；二尖瓣脱垂综合征；鱼鳞癣；血液凝固障碍；细毛；黑色素细胞痣;丘疹;角化过度;张开嘴;肺动脉狭窄；法洛四联症；宽间距乳头；球状鼻尖；球鼻；土豆鼻子；脑钙化；胖嘟嘟的脸颊;饱满的脸颊；脸颊增生;脸颊肥大;浮肿的脸颊；后发际线低；先天性鸡胸；角度 2 级错牙合；角度 3 级错牙合；咬合不正；产后发育迟缓；三角脸；肺腺癌（疾病）；先天性斜指；数字曲率；脊柱后凸畸形;掌跖角化病；向后旋转的耳朵；稀疏的头发；稀疏的头发；饱满的下唇；新生儿肌张力减退；突出的下唇；额头隆起；新生儿早产；突出的额头；肾积水;男性不育症；拉长着脸;性腺功能减退症孤立性低促性腺激素；低促性腺激素性腺机能减退症;皮肤干燥;胃灼热;早产；干燥症;动脉导管未闭；神经胶质瘤；关节过度灵活；长而窄的头；狭窄的颅骨形状；窄头型；狭窄的颅骨形状； Turridolicochephaly;胃食管反流病;心脏传导异常；心电图异常；心电图改变；心脏传导障碍；心电图异常；羊水过多;房间隔缺损；大耳廓；发育不良的大耳朵；大耳廓；大而突出的耳朵；大而突出的耳朵；大而松软的耳朵； Macrotia;肌肉张力亢进；肥厚性心肌病;眼球突出；突出的眼睛;突出的地球仪；突出的眼睛;广泛性骨质减少；骨质减少；心律失常;恶心和呕吐;漏斗胸;脑电图异常；高额头;额头高；面部中部突出减少；中面部营养不良；面中部后缩；中脸小；粗糙的面部特征；面部皮肤增厚五官粗糙；双侧小指弯曲；小指弯曲；位置低、向后旋转的耳朵；脑积水;呕吐；生长延迟；生长失败；生长迟缓；生长不良；生长非常差；近视;室间隔缺损；肝肿瘤;短指；鼻子短；小鼻子;骨龄延迟；长人中；排便困难；产前发作；脖子短；便秘;大颅骨;头围增加；颅骨体积增大；颅骨尺寸增大；正面凸起；睑裂向下倾斜；婴儿喂养困难；婴儿小于胎龄儿；宫内发育迟缓;先天性内眦赘皮；低位耳朵；肌肉无力;脑萎缩；先天性耳聋；胎儿生长迟缓；部分听力损失；脾肿大;鼻孔前倾；构音障碍；拜占庭拱形上颚；鼻梁凹陷；鼻梁凹陷；鼻根/鼻梁凹陷；耳聋；听力受损;肺肿瘤；黑色素瘤;结直肠肿瘤；宽扁的鼻梁；鼻梁宽；上睑下垂；肝癌；轨道分离过度；肝肿大；隐睾;斜视；肥胖;发育不全的下颌骨髁；下颌发育不全;小颌畸形；后天性脊柱侧凸；脊柱弯曲；感音神经性听力损失（障碍）；眼球震颤；未能增加体重；儿科发育不良；前列腺肿瘤；身材矮小；癫痫;肌肉张力减退；癫痫发作；认知延迟；整体发育迟缓；智力和运动迟缓；智力迟钝；智力低下；智力低下；精神缺陷；学习成绩差；智力残疾;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）：

Vitamin E

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）：

维生素E

以该基因做靶点的药物（国际版）：

Sorafenib (Protein serine/threonine kinase activity);XL281 (Protein serine/threonine kinase activity);PLX4032 (Protein serine/threonine kinase activity);N-{3-[(5-chloro-1H-pyrrolo[2,3-b]pyridin-3-yl)carbonyl]-2,4-difluorophenyl}propane-1-sulfonamide (Protein serine/threonine kinase activity);N-{2,4-difluoro-3-[(5-pyridin-3-yl-1H-pyrrolo[2,3-b]pyridin-3-yl)carbonyl]phenyl}ethanesulfonamide (Protein serine/threonine kinase activity);(1E)-5-(1-piperidin-4-yl-3-pyridin-4-yl-1H-pyrazol-4-yl)-2,3-dihydro-1H-inden-1-one oxime (Protein serine/threonine kinase activity);Vemurafenib (Protein serine/threonine kinase activity);Regorafenib (Protein serine/threonine kinase activity);Dabrafenib (Protein serine/threonine kinase activity)

针对该基因所产生的突变，可能有精准效果的药物（中文版）：

索拉非尼（蛋白丝氨酸/苏氨酸激酶活性）；XL281（蛋白丝氨酸/苏氨酸激酶活性）；PLX4032（蛋白丝氨酸/苏氨酸激酶活性）；N-{3-[(5-chloro-1H-pyrrolo[2,3-b) ]pyridin-3-yl)carbonyl]-2,4-difluorophenyl}propane-1-sulfonamide (Protein serine/threonine kinase activity);N-{2,4-difluoro-3-[(5-pyridin-3-yl) -1H-pyrrolo[2,3-b]pyridin-3-yl)carbonyl]phenyl}ethanesulfonamide (Protein serine/threonine kinase activity);(1E)-5-(1-piperidin-4-yl-3-pyridin- 4-yl-1H-pyrazol-4-yl)-2,3-dihydro-1H-inden-1-one oxime（蛋白丝氨酸/苏氨酸激酶活性）；Vemurafenib（蛋白丝氨酸/苏氨酸激酶活性）；Regorafenib（蛋白丝氨酸/苏氨酸激酶活性）；Dabrafenib（蛋白丝氨酸/苏氨酸激酶活性）

结婚前基因评估分析，发现BRAF基因突变，怎么办？