Melanoma : BRAF Mutation Analysis (V600E & V600K)

Test Information

€ BRAF: BRAF encodes a member of the raf family of serine/threonine protein kinases. This protein functions in regulating MAPK/ERK signaling pathways associated with cellular processes such as division, differentiation, and secretion. A mutation at amino acid position 600 resulting in the substitution of valine for glutamic acid (V600E) is reported in ~50% of melanomas. Additionally, other amino acid substitutions at position 600 such as V600K, V600R, and V600M have been identified (British Journal of Cancer (2013) 108(10): 2164-2171). The BRAFV600E mutation is uniformly distributed in various types of nevi. Its presence in congenital and anogenital nevi points to mechanisms of induction other than sun exposure. Its ubiquitous presence suggests that it poses no significant threat of malignant transformation (The American Journal of Dermatopathology 29.6 (2007): 534-537). While BRAF mutations are associated with poor survival, targeted inhibitors of BRAF have resulted in increases in overall survival and progression-free-survival (New England Journal of Medicine (2015) 372(1): 30-9).

Turnaround Time

5 days

CPT Code(s)

81210

Cost

$350

Genes

Disorders

Clinical Information

The incidence of melanoma (33% for men; 23% for women) is increasing at an alarming rate with an estimated 76,380 patients being diagnosed in 2016. Accurate cutaneous melanoma staging (Stage I-Stage IV) is important for the determination of the 5 year overall survival rate and has been well characterized by the American Joint Committee on Cancer (AJCC). Microarray has been identified as a technique with higher specificity and sensitivity than FISH in identifying genomic changes in histologically equivocal lesions. Also, metastatic melanoma with BRAF activating mutations have been shown to respond to BRAF inhibitors. Gerami et al (2015) and Cirenajwis et al (2015) developed a prognostic molecular genetic signatures to predict the metastatic risk associated with melanoma from FFPE specimens (Clin Cancer Res 2015; 21:175-183; Oncotarget 2015; 6:12297-12309). For more information, please see NCCN Guidelines 1.2017 Melanoma (https://www.nccn.org/professionals/physician_gls/pdf/melanoma.pdf).
GGC Offers a Comprehensive Melanoma panel (BRAFV600E and BRAF V600K mutation analysis AND prognostic regions of the genome with copy number changes) and a whole genome view of the tumor specimen. Data analysis, interpretation and reporting is performed adhering to the ACMG Standards and Guidelines for microarray analysis in neoplastic disorders (Genetics in Medicine, (2013), 15, 484�494).

Indications

Gene sequencing and targeted mutation testing and copy number analysis can serve as a useful diagnostic and potentially prognostic tool for the analysis of affected tissues or tumors. The detection of copy number variants or specific gene mutations may enhance treatment decisions.

Associated Tests

Specimen Requirements

Analysis can be performed on fresh or frozen tissue samples as well as formalin-fixed, paraffin-embedded tissue samples.

Transport Instructions

The specimen should be kept at the appropriate temperature and delivered via overnight shipping.

Have Questions Need Support?

Call our laboratory at 1-800-473-9411 or contact one of our Laboratory Genetic Counselors for assistance.
Robin Fletcher, MS, CGC
Kellie Walden, MS, CGC

Oncology Testing, Targeted Variants
Lucy's Story

Lucy's Story

When our daughter Lucy had a metabolic crisis at 7 days old, we were shocked and devastated to find out that she was born with a rare genetic disorder (MSUD). Her newborn screening results did not make it back in time to prevent the crisis, and no one at our local hospital was familiar with the disease. They did not know how to treat her. Calls were made to Greenwood Genetic Center to confirm her diagnosis...

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