SCIENTIFIC BACKGROUND

BRAF

Category:

Scientific Background

The ForeSENTIA BRAF Gene-Focused Panel tests for single nucleotide variants, insertions and deletions on the BRAF gene. BRAF is a gene found in chromosome 7 and it is transcribed into a serine/threonine protein kinase also known as BRAF. This protein is essential in cell growth, regulation of cell signaling pathways, and cell division.

In cancer, the BRAF gene is frequently mutated resulting in abnormal regulation of the cell signaling pathways and ultimately uncontrolled growth of the cancer cells. Examples of cancers in which BRAF is found to be mutated are melanoma, NSCLC, colorectal, ovarian, glioma, and others. Different mutations of the BRAF gene have been observed in cancer patients. One of the most common is the V600E mutation and it is frequently found in melanoma, colorectal, thyroid, and other types of cancer.

 

There are several drugs that are currently used for certain tumors and target BRAF mutations. Some examples include vemurafenib, dabrafenib, and encorafenib.

 

Recommendations by professional bodies:

ESMO recommends BRAF genetic testing in high-risk resected melanoma (stage IIC) and it is mandatory for advanced melanoma

 

NCCN recommends BRAF testing in advanced melanoma patients for targeted therapy options

 

References and more information: 

Śmiech M, Leszczyński P, Kono H, Wardell C, Taniguchi H. Emerging BRAF Mutations in Cancer Progression and Their Possible Effects on Transcriptional Networks. Genes (Basel). 2020 Nov 12;11(11):1342. doi: 10.3390/genes11111342. PMID: 33198372; PMCID: PMC7697059.

Coit DG, Thompson JA, Albertini MR, Barker C, Carson WE, Contreras C, Daniels GA, DiMaio D, Fields RC, Fleming MD, Freeman M, Galan A, Gastman B, Guild V, Johnson D, Joseph RW, Lange JR, Nath S, Olszanski AJ, Ott P, Gupta AP, Ross MI, Salama AK, Skitzki J, Sosman J, Swetter SM, Tanabe KK, Wuthrick E, McMillian NR, Engh AM. Cutaneous Melanoma, Version 2.2019, NCCN Clinical Practice Guidelines in Oncology. J Natl Compr Canc Netw. 2019 Apr 1;17(4):367-402. doi: 10.6004/jnccn.2019.0018. PMID: 30959471.

Michielin O, van Akkooi ACJ, Ascierto PA, Dummer R, Keilholz U; ESMO Guidelines Committee. Electronic address: clinicalguidelines@esmo.org. Cutaneous melanoma: ESMO Clinical Practice Guidelines for diagnosis, treatment and follow-up†. Ann Oncol. 2019 Dec 1;30(12):1884-1901. doi: 10.1093/annonc/mdz411. PMID: 31566661.

GENES

BRAF
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