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BRAF NP_004324.2:p.V600X

MedGen UID:
817768
•Concept ID:
C3812172
•
Cell or Molecular Dysfunction
Synonyms: BRAF Codon 600 Mutation; BRAF NP_004324.2:p.Val600 Mutation; BRAF NP_004324.2:p.Val600Xxx; BRAF p.V600 Mutation; BRAF p.V600X; BRAF p.Val600 Mutation; BRAF p.Val600Xxx; BRAF V600 Mutation; BRAF V600 Protein Variation; BRAF V600X; BRAFV600; NP_004324.2:p.V600 Mutation; NP_004324.2:p.V600X; NP_004324.2:p.Val600 Mutation; NP_004324.2:p.Val600Xxx; Serine/Threonine-Protein Kinase B-raf Protein V600 Mutation; Serine/Threonine-Protein Kinase B-raf Protein V600 Protein Variation; Serine/Threonine-Protein Kinase B-raf Protein V600X; Serine/Threonine-Protein Kinase B-raf Protein Val600 Mutation; Serine/Threonine-Protein Kinase B-raf Protein Val600Xxx

Definition

A change in the valine at position 600 of the serine/threonine-protein kinase B-raf protein to another amino acid. [from NCI]

Professional guidelines

PubMed

Diagnostic work-up and systemic treatment for advanced non-squamous non-small-cell lung cancer in four Southeast Asian countries.
Soo R, Mery L, Bardot A, Kanesvaran R, Keong TC, Pongnikorn D, Prasongsook N, Hutajulu SH, Irawan C, Manan AA, Thiagarajan M, Sripan P, Peters S, Storm H, Bray F, Stahel R
ESMO Open 2022 Oct;7(5):100560. Epub 2022 Aug 18 doi: 10.1016/j.esmoop.2022.100560. PMID: 35988454Free PMC Article
Colorectal cancer peritoneal metastases: Biology, treatment and next steps.
Baaten ICPA, West NP, Quyn AJ, Seymour MT, Seligmann JF
Eur J Surg Oncol 2020 Apr;46(4 Pt A):675-683. Epub 2019 Oct 31 doi: 10.1016/j.ejso.2019.10.035. PMID: 31806517

Recent clinical studies

Etiology

Clinical features, genomic profiling, and outcomes of adult patients with unifocal Langerhans cell histiocytosis.
Lang M, Cai HC, Lin H, Chang L, Dai JW, Chen J, Duan MH, Zhou DB, Goyal G, Cao XX
Orphanet J Rare Dis 2023 Nov 30;18(1):372. doi: 10.1186/s13023-023-02989-8. PMID: 38037140Free PMC Article
Performance of a Multigene Genomic Classifier in Thyroid Nodules with Suspicious for Malignancy Cytology.
Skaugen JM, Taneja C, Liu JB, Wald AI, Nikitski AV, Chiosea SI, Seethala RR, Ohori NP, Karslioglu-French E, Carty SE, Nikiforova MN, Yip L, Nikiforov YE
Thyroid 2022 Dec;32(12):1500-1508. Epub 2022 Sep 1 doi: 10.1089/thy.2022.0282. PMID: 35864811Free PMC Article
Comparative-effectiveness of pembrolizumab vs. nivolumab for patients with metastatic melanoma.
Moser JC, Wei G, Colonna SV, Grossmann KF, Patel S, Hyngstrom JR
Acta Oncol 2020 Apr;59(4):434-437. Epub 2020 Jan 10 doi: 10.1080/0284186X.2020.1712473. PMID: 31920132
Colorectal cancer peritoneal metastases: Biology, treatment and next steps.
Baaten ICPA, West NP, Quyn AJ, Seymour MT, Seligmann JF
Eur J Surg Oncol 2020 Apr;46(4 Pt A):675-683. Epub 2019 Oct 31 doi: 10.1016/j.ejso.2019.10.035. PMID: 31806517
Tracking the Evolution of Non-Small-Cell Lung Cancer.
Jamal-Hanjani M, Wilson GA, McGranahan N, Birkbak NJ, Watkins TBK, Veeriah S, Shafi S, Johnson DH, Mitter R, Rosenthal R, Salm M, Horswell S, Escudero M, Matthews N, Rowan A, Chambers T, Moore DA, Turajlic S, Xu H, Lee SM, Forster MD, Ahmad T, Hiley CT, Abbosh C, Falzon M, Borg E, Marafioti T, Lawrence D, Hayward M, Kolvekar S, Panagiotopoulos N, Janes SM, Thakrar R, Ahmed A, Blackhall F, Summers Y, Shah R, Joseph L, Quinn AM, Crosbie PA, Naidu B, Middleton G, Langman G, Trotter S, Nicolson M, Remmen H, Kerr K, Chetty M, Gomersall L, Fennell DA, Nakas A, Rathinam S, Anand G, Khan S, Russell P, Ezhil V, Ismail B, Irvin-Sellers M, Prakash V, Lester JF, Kornaszewska M, Attanoos R, Adams H, Davies H, Dentro S, Taniere P, O'Sullivan B, Lowe HL, Hartley JA, Iles N, Bell H, Ngai Y, Shaw JA, Herrero J, Szallasi Z, Schwarz RF, Stewart A, Quezada SA, Le Quesne J, Van Loo P, Dive C, Hackshaw A, Swanton C; TRACERx Consortium
N Engl J Med 2017 Jun 1;376(22):2109-2121. Epub 2017 Apr 26 doi: 10.1056/NEJMoa1616288. PMID: 28445112

Diagnosis

Clinical features, genomic profiling, and outcomes of adult patients with unifocal Langerhans cell histiocytosis.
Lang M, Cai HC, Lin H, Chang L, Dai JW, Chen J, Duan MH, Zhou DB, Goyal G, Cao XX
Orphanet J Rare Dis 2023 Nov 30;18(1):372. doi: 10.1186/s13023-023-02989-8. PMID: 38037140Free PMC Article
Head and Neck Mesenchymal Tumors with Kinase Fusions: A Report of 15 Cases With Emphasis on Wide Anatomic Distribution and Diverse Histologic Appearance.
Xu B, Suurmeijer AJH, Agaram NP, Antonescu CR
Am J Surg Pathol 2023 Feb 1;47(2):248-258. Epub 2022 Oct 21 doi: 10.1097/PAS.0000000000001982. PMID: 36638315Free PMC Article
Performance of a Multigene Genomic Classifier in Thyroid Nodules with Suspicious for Malignancy Cytology.
Skaugen JM, Taneja C, Liu JB, Wald AI, Nikitski AV, Chiosea SI, Seethala RR, Ohori NP, Karslioglu-French E, Carty SE, Nikiforova MN, Yip L, Nikiforov YE
Thyroid 2022 Dec;32(12):1500-1508. Epub 2022 Sep 1 doi: 10.1089/thy.2022.0282. PMID: 35864811Free PMC Article
Chr20q Amplification Defines a Distinct Molecular Subtype of Microsatellite Stable Colorectal Cancer.
Zhang B, Yao K, Zhou E, Zhang L, Cheng C
Cancer Res 2021 Apr 15;81(8):1977-1987. Epub 2021 Feb 22 doi: 10.1158/0008-5472.CAN-20-4009. PMID: 33619118Free PMC Article
Comparative-effectiveness of pembrolizumab vs. nivolumab for patients with metastatic melanoma.
Moser JC, Wei G, Colonna SV, Grossmann KF, Patel S, Hyngstrom JR
Acta Oncol 2020 Apr;59(4):434-437. Epub 2020 Jan 10 doi: 10.1080/0284186X.2020.1712473. PMID: 31920132

Therapy

Effectiveness, safety and utilization of cobimetinib and vemurafenib in patients with BRAF V600 mutant melanoma with and without cerebral metastasis under real-world conditions in Germany: the non-interventional study coveNIS.
Kähler KC, Debus D, Schley G, Göppner D, Hassel JC, Meier F, Terheyden P, Stadler R, Tüting T, Kaatz M, Hoff NP, Masoudi E, Zdanowicz-Specht A, Nguyen MT, Mohr P
Melanoma Res 2024 Feb 1;34(1):44-53. Epub 2023 Nov 13 doi: 10.1097/CMR.0000000000000908. PMID: 37962220Free PMC Article
Diagnostic work-up and systemic treatment for advanced non-squamous non-small-cell lung cancer in four Southeast Asian countries.
Soo R, Mery L, Bardot A, Kanesvaran R, Keong TC, Pongnikorn D, Prasongsook N, Hutajulu SH, Irawan C, Manan AA, Thiagarajan M, Sripan P, Peters S, Storm H, Bray F, Stahel R
ESMO Open 2022 Oct;7(5):100560. Epub 2022 Aug 18 doi: 10.1016/j.esmoop.2022.100560. PMID: 35988454Free PMC Article
Comparative-effectiveness of pembrolizumab vs. nivolumab for patients with metastatic melanoma.
Moser JC, Wei G, Colonna SV, Grossmann KF, Patel S, Hyngstrom JR
Acta Oncol 2020 Apr;59(4):434-437. Epub 2020 Jan 10 doi: 10.1080/0284186X.2020.1712473. PMID: 31920132
Colorectal cancer peritoneal metastases: Biology, treatment and next steps.
Baaten ICPA, West NP, Quyn AJ, Seymour MT, Seligmann JF
Eur J Surg Oncol 2020 Apr;46(4 Pt A):675-683. Epub 2019 Oct 31 doi: 10.1016/j.ejso.2019.10.035. PMID: 31806517
Tracking the molecular features of nonpolypoid colorectal neoplasms: a systematic review and meta-analysis.
Voorham QJ, Rondagh EJ, Knol DL, van Engeland M, Carvalho B, Meijer GA, Sanduleanu S
Am J Gastroenterol 2013 Jul;108(7):1042-56. Epub 2013 May 7 doi: 10.1038/ajg.2013.126. PMID: 23649184

Prognosis

Clinical features, genomic profiling, and outcomes of adult patients with unifocal Langerhans cell histiocytosis.
Lang M, Cai HC, Lin H, Chang L, Dai JW, Chen J, Duan MH, Zhou DB, Goyal G, Cao XX
Orphanet J Rare Dis 2023 Nov 30;18(1):372. doi: 10.1186/s13023-023-02989-8. PMID: 38037140Free PMC Article
Swarm learning for decentralized artificial intelligence in cancer histopathology.
Saldanha OL, Quirke P, West NP, James JA, Loughrey MB, Grabsch HI, Salto-Tellez M, Alwers E, Cifci D, Ghaffari Laleh N, Seibel T, Gray R, Hutchins GGA, Brenner H, van Treeck M, Yuan T, Brinker TJ, Chang-Claude J, Khader F, Schuppert A, Luedde T, Trautwein C, Muti HS, Foersch S, Hoffmeister M, Truhn D, Kather JN
Nat Med 2022 Jun;28(6):1232-1239. Epub 2022 Apr 25 doi: 10.1038/s41591-022-01768-5. PMID: 35469069Free PMC Article
Comparative-effectiveness of pembrolizumab vs. nivolumab for patients with metastatic melanoma.
Moser JC, Wei G, Colonna SV, Grossmann KF, Patel S, Hyngstrom JR
Acta Oncol 2020 Apr;59(4):434-437. Epub 2020 Jan 10 doi: 10.1080/0284186X.2020.1712473. PMID: 31920132
Colorectal cancer peritoneal metastases: Biology, treatment and next steps.
Baaten ICPA, West NP, Quyn AJ, Seymour MT, Seligmann JF
Eur J Surg Oncol 2020 Apr;46(4 Pt A):675-683. Epub 2019 Oct 31 doi: 10.1016/j.ejso.2019.10.035. PMID: 31806517
Tracking the Evolution of Non-Small-Cell Lung Cancer.
Jamal-Hanjani M, Wilson GA, McGranahan N, Birkbak NJ, Watkins TBK, Veeriah S, Shafi S, Johnson DH, Mitter R, Rosenthal R, Salm M, Horswell S, Escudero M, Matthews N, Rowan A, Chambers T, Moore DA, Turajlic S, Xu H, Lee SM, Forster MD, Ahmad T, Hiley CT, Abbosh C, Falzon M, Borg E, Marafioti T, Lawrence D, Hayward M, Kolvekar S, Panagiotopoulos N, Janes SM, Thakrar R, Ahmed A, Blackhall F, Summers Y, Shah R, Joseph L, Quinn AM, Crosbie PA, Naidu B, Middleton G, Langman G, Trotter S, Nicolson M, Remmen H, Kerr K, Chetty M, Gomersall L, Fennell DA, Nakas A, Rathinam S, Anand G, Khan S, Russell P, Ezhil V, Ismail B, Irvin-Sellers M, Prakash V, Lester JF, Kornaszewska M, Attanoos R, Adams H, Davies H, Dentro S, Taniere P, O'Sullivan B, Lowe HL, Hartley JA, Iles N, Bell H, Ngai Y, Shaw JA, Herrero J, Szallasi Z, Schwarz RF, Stewart A, Quezada SA, Le Quesne J, Van Loo P, Dive C, Hackshaw A, Swanton C; TRACERx Consortium
N Engl J Med 2017 Jun 1;376(22):2109-2121. Epub 2017 Apr 26 doi: 10.1056/NEJMoa1616288. PMID: 28445112

Clinical prediction guides

Effectiveness, safety and utilization of cobimetinib and vemurafenib in patients with BRAF V600 mutant melanoma with and without cerebral metastasis under real-world conditions in Germany: the non-interventional study coveNIS.
Kähler KC, Debus D, Schley G, Göppner D, Hassel JC, Meier F, Terheyden P, Stadler R, Tüting T, Kaatz M, Hoff NP, Masoudi E, Zdanowicz-Specht A, Nguyen MT, Mohr P
Melanoma Res 2024 Feb 1;34(1):44-53. Epub 2023 Nov 13 doi: 10.1097/CMR.0000000000000908. PMID: 37962220Free PMC Article
Clinical features, genomic profiling, and outcomes of adult patients with unifocal Langerhans cell histiocytosis.
Lang M, Cai HC, Lin H, Chang L, Dai JW, Chen J, Duan MH, Zhou DB, Goyal G, Cao XX
Orphanet J Rare Dis 2023 Nov 30;18(1):372. doi: 10.1186/s13023-023-02989-8. PMID: 38037140Free PMC Article
Histo-Molecular Factors of Response to Combined Chemotherapy and Immunotherapy in Non-Small Cell Lung Cancers.
Marchal M, Leroy V, Behal H, Dansin E, Paris N, Bordier S, Humez S, Escande F, Gauvain C, Cortot AB
Target Oncol 2023 Nov;18(6):927-939. Epub 2023 Nov 3 doi: 10.1007/s11523-023-01009-w. PMID: 37921939Free PMC Article
Swarm learning for decentralized artificial intelligence in cancer histopathology.
Saldanha OL, Quirke P, West NP, James JA, Loughrey MB, Grabsch HI, Salto-Tellez M, Alwers E, Cifci D, Ghaffari Laleh N, Seibel T, Gray R, Hutchins GGA, Brenner H, van Treeck M, Yuan T, Brinker TJ, Chang-Claude J, Khader F, Schuppert A, Luedde T, Trautwein C, Muti HS, Foersch S, Hoffmeister M, Truhn D, Kather JN
Nat Med 2022 Jun;28(6):1232-1239. Epub 2022 Apr 25 doi: 10.1038/s41591-022-01768-5. PMID: 35469069Free PMC Article
Tracking the Evolution of Non-Small-Cell Lung Cancer.
Jamal-Hanjani M, Wilson GA, McGranahan N, Birkbak NJ, Watkins TBK, Veeriah S, Shafi S, Johnson DH, Mitter R, Rosenthal R, Salm M, Horswell S, Escudero M, Matthews N, Rowan A, Chambers T, Moore DA, Turajlic S, Xu H, Lee SM, Forster MD, Ahmad T, Hiley CT, Abbosh C, Falzon M, Borg E, Marafioti T, Lawrence D, Hayward M, Kolvekar S, Panagiotopoulos N, Janes SM, Thakrar R, Ahmed A, Blackhall F, Summers Y, Shah R, Joseph L, Quinn AM, Crosbie PA, Naidu B, Middleton G, Langman G, Trotter S, Nicolson M, Remmen H, Kerr K, Chetty M, Gomersall L, Fennell DA, Nakas A, Rathinam S, Anand G, Khan S, Russell P, Ezhil V, Ismail B, Irvin-Sellers M, Prakash V, Lester JF, Kornaszewska M, Attanoos R, Adams H, Davies H, Dentro S, Taniere P, O'Sullivan B, Lowe HL, Hartley JA, Iles N, Bell H, Ngai Y, Shaw JA, Herrero J, Szallasi Z, Schwarz RF, Stewart A, Quezada SA, Le Quesne J, Van Loo P, Dive C, Hackshaw A, Swanton C; TRACERx Consortium
N Engl J Med 2017 Jun 1;376(22):2109-2121. Epub 2017 Apr 26 doi: 10.1056/NEJMoa1616288. PMID: 28445112

Recent systematic reviews

Tracking the molecular features of nonpolypoid colorectal neoplasms: a systematic review and meta-analysis.
Voorham QJ, Rondagh EJ, Knol DL, van Engeland M, Carvalho B, Meijer GA, Sanduleanu S
Am J Gastroenterol 2013 Jul;108(7):1042-56. Epub 2013 May 7 doi: 10.1038/ajg.2013.126. PMID: 23649184

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