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Activating BRAF Mutation

MedGen UID:: 1636269
•Concept ID:: C4682498
•: Cell or Molecular Dysfunction

Synonyms:

Activating BRAF Gene Mutation; Activating BRAF1 Mutation; B-RAF Activating Mutation; B-Raf Proto-Oncogene, Serine/Threonine Kinase Activating Mutation; B-RAF1 Activating Mutation; BRAF Activating Mutation; v-raf Murine Sarcoma Viral Oncogene Homolog B Activating Mutation; v-raf Murine Sarcoma Viral Oncogene Homolog B1 Activating Mutation

Definition

A change in the nucleotide sequence of the BRAF gene that that results in constitutive activation of both serine/threonine-protein kinase B-raf and its downstream signaling pathways. [from NCI]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVActivating BRAF Mutation

Molecular Abnormality
- Molecular Sequence Variation
  - Molecular Genetic Variation
    - Gene Abnormality
      - RAF Family Gene Mutation
        Activating RAF Mutation
        Activating BRAF Mutation
        Activating Non-V600 BRAF Mutation
        BRAF NM_004333.4:c.1799T>A
        BRAF NM_004333.4:c.1799_1800delinsAA

Professional guidelines

PubMed

Repurposing Metabolic Inhibitors in the Treatment of Colon Adenocarcinoma Patient-Derived Models.

Lee B, Lee C, Moon HM, Jo SY, Jang SJ, Suh YA
Cells 2023 Dec 18;12(24) doi: 10.3390/cells12242859. PMID: 38132178 Free PMC Article

BRAF-Mutated Colorectal Cancer: What Is the Optimal Strategy for Treatment?

Cohen R, Cervera P, Svrcek M, Pellat A, Dreyer C, de Gramont A, André T
Curr Treat Options Oncol 2017 Feb;18(2):9. doi: 10.1007/s11864-017-0453-5. PMID: 28214977

Efficacy of IGFBP7 for treatment of metastatic melanoma and other cancers in mouse models and human cell lines.

Wajapeyee N, Kapoor V, Mahalingam M, Green MR
Mol Cancer Ther 2009 Nov;8(11):3009-14. Epub 2009 Oct 27 doi: 10.1158/1535-7163.MCT-09-0470. PMID: 19861408 Free PMC Article

See all (3)

Recent clinical studies

Etiology

High frequency of BRAF mutations in primary mucinous ovarian carcinoma of Taiwanese patients.

Chao WR, Lee YJ, Lee MY, Sheu GT, Han CP
Taiwan J Obstet Gynecol 2021 Nov;60(6):1072-1077. doi: 10.1016/j.tjog.2021.09.019. PMID: 34794740

Diagnostic value of immunohistochemistry for the detection of the BRAF V600E mutation in colorectal carcinoma.

Ioannou M, Papamichali R, Samara M, Paraskeva E, Papacharalambous C, Baxevanidou K, Koukoulis G
J BUON 2016 May-Jun;21(3):618-25. PMID: 27569082

Activating BRAF V600E mutation in aggressive pediatric Langerhans cell histiocytosis: demonstration by allele-specific PCR/direct sequencing and immunohistochemistry.

Méhes G, Irsai G, Bedekovics J, Beke L, Fazakas F, Rózsa T, Kiss C
Am J Surg Pathol 2014 Dec;38(12):1644-8. doi: 10.1097/PAS.0000000000000304. PMID: 25118810

Invasion pattern and histologic features of tumor aggressiveness correlate with MMR protein expression, but are independent of activating KRAS and BRAF mutations in CRC.

Steinestel K, Lennerz JK, Eder S, Kraft K, Arndt A
Virchows Arch 2014 Aug;465(2):155-63. Epub 2014 Jun 12 doi: 10.1007/s00428-014-1604-8. PMID: 24915895

Low frequency of BRAFT1796A mutations in childhood thyroid carcinomas.

Kumagai A, Namba H, Saenko VA, Ashizawa K, Ohtsuru A, Ito M, Ishikawa N, Sugino K, Ito K, Jeremiah S, Thomas GA, Bogdanova TI, Tronko MD, Nagayasu T, Shibata Y, Yamashita S
J Clin Endocrinol Metab 2004 Sep;89(9):4280-4. doi: 10.1210/jc.2004-0172. PMID: 15356022

See all (5)

Diagnosis

High frequency of BRAF mutations in primary mucinous ovarian carcinoma of Taiwanese patients.

Chao WR, Lee YJ, Lee MY, Sheu GT, Han CP
Taiwan J Obstet Gynecol 2021 Nov;60(6):1072-1077. doi: 10.1016/j.tjog.2021.09.019. PMID: 34794740

Long-Term Outcomes in BRAF-Mutated Melanoma Treated with Combined Targeted Therapy or Immune Checkpoint Blockade: Are We Approaching a True Cure?

Schummer P, Schilling B, Gesierich A
Am J Clin Dermatol 2020 Aug;21(4):493-504. doi: 10.1007/s40257-020-00509-z. PMID: 32124332 Free PMC Article

AXL/AKT axis mediated-resistance to BRAF inhibitor depends on PTEN status in melanoma.

Zuo Q, Liu J, Huang L, Qin Y, Hawley T, Seo C, Merlino G, Yu Y
Oncogene 2018 Jun;37(24):3275-3289. Epub 2018 Mar 19 doi: 10.1038/s41388-018-0205-4. PMID: 29551771 Free PMC Article

The current value of determining the mismatch repair status of colorectal cancer: A rationale for routine testing.

Ryan E, Sheahan K, Creavin B, Mohan HM, Winter DC
Crit Rev Oncol Hematol 2017 Aug;116:38-57. Epub 2017 May 20 doi: 10.1016/j.critrevonc.2017.05.006. PMID: 28693799

Identification of recurrent SMO and BRAF mutations in ameloblastomas.

Sweeney RT, McClary AC, Myers BR, Biscocho J, Neahring L, Kwei KA, Qu K, Gong X, Ng T, Jones CD, Varma S, Odegaard JI, Sugiyama T, Koyota S, Rubin BP, Troxell ML, Pelham RJ, Zehnder JL, Beachy PA, Pollack JR, West RB
Nat Genet 2014 Jul;46(7):722-5. Epub 2014 May 25 doi: 10.1038/ng.2986. PMID: 24859340 Free PMC Article

See all (16)

Therapy

BRAF Gene and Melanoma: Back to the Future.

Ottaviano M, Giunta EF, Tortora M, Curvietto M, Attademo L, Bosso D, Cardalesi C, Rosanova M, De Placido P, Pietroluongo E, Riccio V, Mucci B, Parola S, Vitale MG, Palmieri G, Daniele B, Simeone E, On Behalf Of Scito Youth
Int J Mol Sci 2021 Mar 27;22(7) doi: 10.3390/ijms22073474. PMID: 33801689 Free PMC Article

Long-Term Outcomes in BRAF-Mutated Melanoma Treated with Combined Targeted Therapy or Immune Checkpoint Blockade: Are We Approaching a True Cure?

Schummer P, Schilling B, Gesierich A
Am J Clin Dermatol 2020 Aug;21(4):493-504. doi: 10.1007/s40257-020-00509-z. PMID: 32124332 Free PMC Article

Encorafenib, binimetinib and cetuximab combined therapy for patients with BRAFV600E mutant metastatic colorectal cancer.

Huijberts SC, van Geel RM, Bernards R, Beijnen JH, Steeghs N
Future Oncol 2020 Feb;16(6):161-173. doi: 10.2217/fon-2019-0748. PMID: 32027186

Activating BRAF mutation in sclerosing mucoepidermoid carcinoma with eosinophilia of the thyroid gland: two case reports and review of the literature.

Sukumar JS, Sukumar S, Purohit D, Welch BJ, Balani J, Yan S, Hathiramani SS
J Med Case Rep 2019 Dec 28;13(1):385. doi: 10.1186/s13256-019-2288-0. PMID: 31882020 Free PMC Article

Vemurafenib.

Garbe C, Abusaif S, Eigentler TK
Recent Results Cancer Res 2014;201:215-25. doi: 10.1007/978-3-642-54490-3_13. PMID: 24756795

See all (16)

Prognosis

Long-Term Outcomes in BRAF-Mutated Melanoma Treated with Combined Targeted Therapy or Immune Checkpoint Blockade: Are We Approaching a True Cure?

Schummer P, Schilling B, Gesierich A
Am J Clin Dermatol 2020 Aug;21(4):493-504. doi: 10.1007/s40257-020-00509-z. PMID: 32124332 Free PMC Article

Encorafenib, binimetinib and cetuximab combined therapy for patients with BRAFV600E mutant metastatic colorectal cancer.

Huijberts SC, van Geel RM, Bernards R, Beijnen JH, Steeghs N
Future Oncol 2020 Feb;16(6):161-173. doi: 10.2217/fon-2019-0748. PMID: 32027186

The current value of determining the mismatch repair status of colorectal cancer: A rationale for routine testing.

Ryan E, Sheahan K, Creavin B, Mohan HM, Winter DC
Crit Rev Oncol Hematol 2017 Aug;116:38-57. Epub 2017 May 20 doi: 10.1016/j.critrevonc.2017.05.006. PMID: 28693799

Activating BRAF V600E mutation in aggressive pediatric Langerhans cell histiocytosis: demonstration by allele-specific PCR/direct sequencing and immunohistochemistry.

Méhes G, Irsai G, Bedekovics J, Beke L, Fazakas F, Rózsa T, Kiss C
Am J Surg Pathol 2014 Dec;38(12):1644-8. doi: 10.1097/PAS.0000000000000304. PMID: 25118810

Assessment of V600E mutation of BRAF gene and rate of cell proliferation using fine-needle aspirates from metastatic melanomas.

Sviatoha V, Tani E, Ghaderi M, Kleina R, Skoog L
Anticancer Res 2010 Sep;30(9):3267-72. PMID: 20944096

See all (11)

Clinical prediction guides

Long-Term Outcomes in BRAF-Mutated Melanoma Treated with Combined Targeted Therapy or Immune Checkpoint Blockade: Are We Approaching a True Cure?

Schummer P, Schilling B, Gesierich A
Am J Clin Dermatol 2020 Aug;21(4):493-504. doi: 10.1007/s40257-020-00509-z. PMID: 32124332 Free PMC Article

Mutation Profile of B-Raf Gene Analyzed by fully Automated System and Clinical Features in Japanese Melanoma Patients.

Ide M, Koba S, Sueoka-Aragane N, Sato A, Nagano Y, Inoue T, Misago N, Narisawa Y, Kimura S, Sueoka E
Pathol Oncol Res 2017 Jan;23(1):181-188. Epub 2016 Oct 21 doi: 10.1007/s12253-016-0121-2. PMID: 27766572

Homologous Mutation to Human BRAF V600E Is Common in Naturally Occurring Canine Bladder Cancer--Evidence for a Relevant Model System and Urine-Based Diagnostic Test.

Decker B, Parker HG, Dhawan D, Kwon EM, Karlins E, Davis BW, Ramos-Vara JA, Bonney PL, McNiel EA, Knapp DW, Ostrander EA
Mol Cancer Res 2015 Jun;13(6):993-1002. Epub 2015 Mar 12 doi: 10.1158/1541-7786.MCR-14-0689. PMID: 25767210 Free PMC Article

Invasion pattern and histologic features of tumor aggressiveness correlate with MMR protein expression, but are independent of activating KRAS and BRAF mutations in CRC.

Steinestel K, Lennerz JK, Eder S, Kraft K, Arndt A
Virchows Arch 2014 Aug;465(2):155-63. Epub 2014 Jun 12 doi: 10.1007/s00428-014-1604-8. PMID: 24915895

Low frequency of BRAFT1796A mutations in childhood thyroid carcinomas.

See all (9)

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Activating BRAF Mutation

Definition

Term Hierarchy

Professional guidelines

PubMed

Recent clinical studies

Etiology

Diagnosis

Therapy

Prognosis

Clinical prediction guides

Supplemental Content

Table of contents

Practice guidelines

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