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BRAF Gene Mutation

MedGen UID:: 267017
•Concept ID:: C1511021
•: Cell or Molecular Dysfunction

Synonyms:

B-RAF Gene Mutation; B-RAF1 Gene Mutation; BRAF1 Gene Mutation; v-raf Murine Sarcoma Viral Oncogene Homolog B1 Gene Mutation

Definition

A change in the nucleotide sequence of the BRAF gene. [from NCI]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVBRAF Gene Mutation

Molecular Abnormality
- Molecular Sequence Variation
  - Molecular Genetic Variation
    - Gene Abnormality
      - RAF Family Gene Mutation
        BRAF Gene Mutation
        Activating BRAF Mutation
        Activating Non-V600 BRAF Mutation
        BRAF NM_004333.4:c.1799T>A
        BRAF NM_004333.4:c.1799_1800delinsAA
        BRAF Exon 15 Mutation
        BRAF NM_004333.4:c.1789C>G
        BRAF NM_004333.4:c.1789_1790delinsTC
        BRAF NM_004333.4:c.1790T>A
        BRAF NM_004333.4:c.1790T>G
        BRAF NM_004333.4:c.1791A>G
        BRAF NM_004333.4:c.1796_1797insTAC
        BRAF NM_004333.4:c.1797_1798insACA
        BRAF NM_004333.4:c.1797_1799delinsGAG
        BRAF NM_004333.4:c.1798G>A
        BRAF NM_004333.4:c.1798G>T
        BRAF NM_004333.4:c.1798_1799delinsAA
        BRAF NM_004333.4:c.1798_1799delinsAG
        BRAF NM_004333.4:c.1799T>C
        BRAF NM_004333.4:c.1799T>G
        BRAF NM_004333.4:c.1799_1800delinsAT
        BRAF NM_004333.4:c.1801A>G
        BRAF NM_004333.4:c.1396G>C
        BRAF NM_004333.4:c.1397G>A
        BRAF NM_004333.4:c.1397G>C
        BRAF NM_004333.4:c.1397G>T
        BRAF NM_004333.4:c.1405G>A
        BRAF NM_004333.4:c.1405G>C
        BRAF NM_004333.4:c.1405_1406delinsTC
        BRAF NM_004333.4:c.1405_1407delinsAGC
        BRAF NM_004333.4:c.1405_1407delinsAGT
        BRAF NM_004333.4:c.1406G>A
        BRAF NM_004333.4:c.1406G>C
        BRAF NM_004333.4:c.1406G>T
        Inactivating BRAF Gene Mutation
        Non-V600 BRAF Gene Mutation
        Sensitizing BRAF Gene Mutation

Professional guidelines

PubMed

Correlation exploration among CT imaging, pathology and genotype of pulmonary ground-glass opacity.

Cai Y, Chen T, Zhang S, Tan M, Wang J
J Cell Mol Med 2023 Jul;27(14):2021-2031. Epub 2023 Jun 20 doi: 10.1111/jcmm.17797. PMID: 37340599 Free PMC Article

Prevalence of BRAF gene mutation in samples of primary and metastatic colorectal cancer: A meta-analysis.

Moosazadeh M, Sadough A, Afshari M, Barzegari S, Janbabaee G, Tabrizi R, Akbari M, Alizadeh-Navaei R, Hedayatizadeh-Omran A, Rostami-Maskopaee F
Eur J Cancer Care (Engl) 2019 Nov;28(6):e13160. Epub 2019 Sep 3 doi: 10.1111/ecc.13160. PMID: 31482595

Microsatellite instability, mismatch repair deficiency, and BRAF mutation in treatment-resistant germ cell tumors.

Honecker F, Wermann H, Mayer F, Gillis AJ, Stoop H, van Gurp RJ, Oechsle K, Steyerberg E, Hartmann JT, Dinjens WN, Oosterhuis JW, Bokemeyer C, Looijenga LH
J Clin Oncol 2009 May 1;27(13):2129-36. Epub 2009 Mar 16 doi: 10.1200/JCO.2008.18.8623. PMID: 19289622

See all (7)

Recent clinical studies

Etiology

The association of BRAF V600E gene mutation with proliferative activity and histopathological characteristics of congenital melanocytic nevi in children.

Chen J, Zhang G, Liu X, Tu P
An Bras Dermatol 2023 Jul-Aug;98(4):498-505. Epub 2023 May 6 doi: 10.1016/j.abd.2022.01.016. PMID: 37156689 Free PMC Article

Prevalence of BRAF gene mutation in samples of primary and metastatic colorectal cancer: A meta-analysis.

Immunohistochemical analysis of thyroid follicular neoplasms and BRAF mutation correlation.

Atik E, Guray M, Gunesacar R, Ozgur T, Canda T
Indian J Cancer 2014 Jan-Mar;51(1):63-8. doi: 10.4103/0019-509X.134648. PMID: 24947099

Mutation pattern of KRAS and BRAF oncogenes in colorectal cancer patients.

Rako I, Jakic-Razumovic J, Katalinic D, Sertic J, Plestina S
Neoplasma 2012;59(4):376-83. doi: 10.4149/neo_2012_049. PMID: 22489692

Clinicopathological and protein characterization of BRAF- and K-RAS-mutated colorectal cancer and implications for prognosis.

Zlobec I, Bihl MP, Schwarb H, Terracciano L, Lugli A
Int J Cancer 2010 Jul 15;127(2):367-80. doi: 10.1002/ijc.25042. PMID: 19908233

See all (45)

Diagnosis

Comprehensive analysis of miRNA-mRNA regulatory pairs associated with colorectal cancer and the role in tumor immunity.

Liu C, Yu C, Song G, Fan X, Peng S, Zhang S, Zhou X, Zhang C, Geng X, Wang T, Cheng W, Zhu W
BMC Genomics 2023 Nov 30;24(1):724. doi: 10.1186/s12864-023-09635-4. PMID: 38036953 Free PMC Article

BRAF/MEK Dual Inhibitors Therapy in Progressive and Anaplastic Pleomorphic Xanthoastrocytoma: Case Series and Literature Review.

Kata K, Rodriguez-Quintero JC, Arevalo OD, Zhang JJ, Bhattacharjee MB, Ware C, Dono A, Riascos-Castaneda R, Tandon N, Blanco A, Esquenazi Y, Ballester LY, Amsbaugh M, Day AL, Zhu JJ
J Natl Compr Canc Netw 2022 Nov;20(11):1193-1202.e6. doi: 10.6004/jnccn.2022.7046. PMID: 36351333

Metanephric adenoma: molecular study and review of the literature.

Rodríguez-Zarco E, Machuca-Aguado J, Macías-García L, Vallejo-Benítez A, Ríos-Martín JJ
Oncotarget 2022;13:387-392. Epub 2022 Feb 17 doi: 10.18632/oncotarget.28192. PMID: 35198098 Free PMC Article

Comparative study of BRAF gene mutations in ovarian serous tumors by immunohistochemistry and DNA sequencing.

Liu YY, Wang QP, Liu FF, Zhu HT, He QZ
J BUON 2021 May-Jun;26(3):670-676. PMID: 34268919

A case report.

Liu G, Liu T, Shen C, Zhou L, Ouyang R
Zhong Nan Da Xue Xue Bao Yi Xue Ban 2020 Jan 28;45(1):96-101. doi: 10.11817/j.issn.1672-7347.2020.180625. PMID: 32132305

See all (47)

Therapy

BRAF/MEK Dual Inhibitors Therapy in Progressive and Anaplastic Pleomorphic Xanthoastrocytoma: Case Series and Literature Review.

Predictive Value of Clinical and Pathological Characteristics for Metastatic Radioactive Iodine-Refractory Differentiated Thyroid Carcinoma: A 16-year Retrospective Study.

Chai J, Zhang R, Zheng W, Zhang G, Jia Q, Tan J, Meng Z, Wang R
Front Endocrinol (Lausanne) 2022;13:930180. Epub 2022 Jun 28 doi: 10.3389/fendo.2022.930180. PMID: 35846335 Free PMC Article

The prognostic and predictive impact of BRAF mutations in deficient mismatch repair/microsatellite instability-high colorectal cancer: systematic review/meta-analysis.

Park R, Lopes L, Lee S, Riano I, Saeed A
Future Oncol 2021 Nov;17(31):4221-4231. Epub 2021 Jul 29 doi: 10.2217/fon-2021-0552. PMID: 34323124

Interim analysis for post-marketing surveillance of dabrafenib and trametinib combination therapy in Japanese patients with unresectable and metastatic melanoma with BRAF V600 mutation.

Teshima Y, Kizaki M, Kurihara R, Kano R, Harumiya M
Int J Clin Oncol 2020 Oct;25(10):1870-1878. Epub 2020 Jul 22 doi: 10.1007/s10147-020-01737-3. PMID: 32699976 Free PMC Article

BRAF-Directed Therapy in Metastatic Colorectal Cancer.

Korphaisarn K, Kopetz S
Cancer J 2016 May-Jun;22(3):175-8. doi: 10.1097/PPO.0000000000000189. PMID: 27341594 Free PMC Article

See all (17)

Prognosis

Pathological and Prognostic Characterization of Craniopharyngioma Based on the Expression of TrkA, β-Catenin, Cell Cycle Markers, and BRAF V600E Mutation.

Xu C, Ge S, Cheng J, Gao H, Zhang F, Han A
Front Endocrinol (Lausanne) 2022;13:859381. Epub 2022 May 30 doi: 10.3389/fendo.2022.859381. PMID: 35707464 Free PMC Article

Metanephric adenoma: molecular study and review of the literature.

BRAF mutation may have different prognostic implications in early- and late-stage colorectal cancer.

Chen KH, Lin YL, Liau JY, Tsai JH, Tseng LH, Lin LI, Liang JT, Lin BR, Hung JS, Chang YL, Yeh KH, Cheng AL
Med Oncol 2016 May;33(5):39. Epub 2016 Mar 31 doi: 10.1007/s12032-016-0756-6. PMID: 27034263

Immunohistochemical analysis of thyroid follicular neoplasms and BRAF mutation correlation.

Atik E, Guray M, Gunesacar R, Ozgur T, Canda T
Indian J Cancer 2014 Jan-Mar;51(1):63-8. doi: 10.4103/0019-509X.134648. PMID: 24947099

Mutation pattern of KRAS and BRAF oncogenes in colorectal cancer patients.

Rako I, Jakic-Razumovic J, Katalinic D, Sertic J, Plestina S
Neoplasma 2012;59(4):376-83. doi: 10.4149/neo_2012_049. PMID: 22489692

See all (42)

Clinical prediction guides

Correlation exploration among CT imaging, pathology and genotype of pulmonary ground-glass opacity.

Cai Y, Chen T, Zhang S, Tan M, Wang J
J Cell Mol Med 2023 Jul;27(14):2021-2031. Epub 2023 Jun 20 doi: 10.1111/jcmm.17797. PMID: 37340599 Free PMC Article

Pathological and Prognostic Characterization of Craniopharyngioma Based on the Expression of TrkA, β-Catenin, Cell Cycle Markers, and BRAF V600E Mutation.

Xu C, Ge S, Cheng J, Gao H, Zhang F, Han A
Front Endocrinol (Lausanne) 2022;13:859381. Epub 2022 May 30 doi: 10.3389/fendo.2022.859381. PMID: 35707464 Free PMC Article

Cardio-facio-cutaneous syndrome with BRAF gene mutation: A case report and literature review.

Chen B, Chen S, Xiong J, Yin F
Zhong Nan Da Xue Xue Bao Yi Xue Ban 2021 Apr 28;46(4):432-437. doi: 10.11817/j.issn.1672-7347.2021.190756. PMID: 33967092 Free PMC Article

Clinicopathological Features and Prognostic Value of KRAS/NRAS/BRAF Mutations in Colorectal Cancer Patients of Central China.

Chang XN, Shang FM, Jiang HY, Chen C, Zhao ZY, Deng SH, Fan J, Dong XC, Yang M, Li Y, Cai KL, Liu L, Liu HL, Nie X
Curr Med Sci 2021 Feb;41(1):118-126. Epub 2021 Feb 13 doi: 10.1007/s11596-021-2326-1. PMID: 33582915

Clinicopathological and protein characterization of BRAF- and K-RAS-mutated colorectal cancer and implications for prognosis.

Zlobec I, Bihl MP, Schwarb H, Terracciano L, Lugli A
Int J Cancer 2010 Jul 15;127(2):367-80. doi: 10.1002/ijc.25042. PMID: 19908233

See all (34)