Version 2.78

Part Description

LP71409-4   BRAF gene
The BRAF gene (B-Raf proto-oncogene, serine/threonine kinase) [HGNC Gene ID:1097] is located on chromosome 7q34. This gene encodes a protein belonging to the raf/mil family of serine/threonine protein kinases. This protein plays a role in regulating the MAP kinase/ERKs signaling pathway, which affects cell division, differentiation, and secretion. Mutations in this gene are associated with cardiofaciocutaneous syndrome, a disease characterized by heart defects, mental retardation and a distinctive facial appearance. 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. A pseudogene, which is located on chromosome X, has been identified for this gene. [provided by RefSeq, Jul 2008] [NCBI Gene ID:673] Loss of the BRAF gene can be determined by various techniques, and loss of the protein, which is an indicator of gene mutation or deletion, can be detected by immunohistochemistry techniques. Source: National Center for Biotechnology Information (NCBI) Gene

Fully-Specified Name

Component
BRAF gene targeted mutation analysis
Property
Prid
Time
Pt
System
Colorectal cancer specimen
Scale
Nom
Method
Molgen

Additional Names

Short Name
BRAF gene Mut Anl CRC spec
Display Name
BRAF gene targeted mutation analysis Molgen Nom (Colorectal cancer specimen)
Consumer Name Alpha Get Info
BRAF gene targeted mutation analysis, Colorectal cancer specimen

Basic Attributes

Class
MOLPATH.MUT
Type
Laboratory
First Released
Version 2.61
Last Updated
Version 2.63
Order vs. Observation
Observation

Member of these Panels

LOINC Long Common Name
85905-8 Cancer pathology panel - Colorectal cancer specimen by CAP cancer protocols

Language Variants Get Info

Tag Language Translation
es-ES Spanish (Spain) Gen BRAF Analisis de mutaciones:Presencia o identidad:Punto temporal:Cáncer colorectal:Nom:Genética molecular
es-MX Spanish (Mexico) Análisis de mutaciones dirigidas al gen BRAF:Presencia o identidad:Punto temporal:Muestra de cáncer colorrectal:Nominal:Genética molecular
fr-FR French (France) BRAF gène mutation cible trouvée:Identification:Ponctuel:Tissu cancer colorectal:Résultat nominal:Biologie moléculaire
it-IT Italian (Italy) BRAF, gene analisi di mutazione mirata:Prid:Pt:Campione di carcinoma del colon-retto:Nom:Molgen
Synonyms: Campione di tumore Gene BRAF Genetica molecolare Mutazione genica Neoplasia maligna Patologia molecolare Presenza o Identità Punto nel tempo (episodio)
zh-CN Chinese (China) BRAF 基因 突变分析:存在与否或特征标识:时间点:结直肠癌标本:名义型:分子遗传学类实验室方法
Synonyms: B-Raf;原癌基因 B-Raf;proto-oncogene B-Raf;v-Raf murine sarcoma viral oncogene homolog B1;v-Raf 鼠科肉瘤病毒癌基因同源物 B1;v-Raf 小鼠肉瘤病毒癌基因同源物 B1;serine/threonine-protein kinase B-Raf;丝氨酸/苏氨酸蛋白激酶 B-Raf;丝氨酸-苏氨酸蛋白激酶 B-Raf;甲状腺癌;消化道肿瘤;皮肤黑色素瘤 供检查用的材料;待检物;待试验物;样品;样本;试料;试样 分子病理学.基因突变;分子病理学.突变;分子病理学试验.基因突变;分子病理学试验.突变;分子病理学试验类.突变;基因突变;突变 分子病理学;分子病理学试验 分子遗传学;分子遗传学方法;分子遗传学类方法;分子遗传学类检验方法;包括 RFL、PCR 及其他方法在内，用于在分子基础上检测遗传属性的方法的大类;聚合酶链反应;聚合酶链式反应 分类型应答;分类型结果;名义性;名称型;名词型;名词性;标称性;没有自然次序的名义型或分类型应答 受检物 基因突变分析 存在;存在与否;特征标识;身份;身份标识 时刻;随机;随意;瞬间 样品 样本 癌 癌（癌症、癌变）标本（样本、样品、试样） 结直肠癌（结肠直肠癌、大肠癌、大肠直肠癌）标本（样本、样品、试样）;结肠直肠癌标本;大肠癌标本;大肠直肠癌标本 试样 遗传基因;遗传因子;吉恩;生物基因

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CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=85511-4