25560 BRAF V600E/V600K Somatic Mutation Analysis, Tumor (BRAFD)

​​​Anaplastic thyroid carcinoma
BRAF
BRAF mutation
BRAFD
Brain cancer
Circulating tumor cells
Circulating tumor DNA
CNS tumor
Colon cancer
Colorectal cancer
Craniopharyngioma
Erdheim-Chester disease
Glioma
Hairy Cell leukemia
Histiocytic lesion
Liquid biopsy
Lung cancer
Melanoma
Papillary thyroid carcinoma
V600E
V600K

Therapy selection for patients with cancer (eg, melanomas that may respond to BRAF inhibitors, colon cancers than may not respond to EGFR inhibitors)

Aiding in the diagnosis/prognosis of certain cancers (eg, hairy cell leukemia, papillary thyroid cancers, and association with aggressiveness)

Aid in determining risk for Lynch syndrome (eg, an adjunct to negative MLH1 germline testing in cases where colon tumor demonstrates MSI-H and loss of MLH1 protein expression)

Submit 1 slide stained with hematoxylin and eosin and 5 unstained, nonbaked slides with 5-micron thick section of tumor tissue.

Necessary Information

Pathology report (final or preliminary) must accompany specimen in order for testing to be performed. At minimum, it should contain the following information:

1. Patient name

2. Block number-must be on all blocks, slides and paperwork (can be handwritten on the paperwork)

3. Tissue collection date

4. Source of the tissue

Not all tumors that have BRAF alterations respond to BRAF-targeted therapies.

Rare genetic alterations exist that could lead to false-negative or false-positive results.

Test results should be interpreted in context of clinical findings, tumor sampling, and other laboratory data. If results obtained do not match other clinical or laboratory findings, please contact the laboratory for possible interpretation. Misinterpretation of results may occur if the information provided is inaccurate or incomplete.

Colon cancer is relatively common and it is possible for a sporadic colon cancer to occur in a Lynch syndrome family. Therefore, evaluation of other family members should still be considered in cases with MLH1 promoter hypermethylation and absence of the BRAF V600E alteration if there is high clinical suspicion of Lynch syndrome.

This test assesses for somatic (tumor-specific) BRAF V600E and V600K alterations. The BRAF gene is a member of the mitogen-activated protein/extracellular signal-regulated (MAP/ERK) kinase pathway, which plays a role in cell proliferation and differentiation. Dysregulation of this pathway is a key factor in tumor progression and BRAF alterations occur frequently in many different tumor types. BRAF variant analysis aids in the diagnosis of cancer types including anaplastic and papillary thyroid carcinoma, hairy cell leukemia, and papillary craniopharyngioma.

BRAF V600E and V600K alterations are associated with response or resistance to specific targeted therapies in cancers such as melanoma, colorectal cancer, and lung cancer. Targeted cancer therapies are defined as antibody or small molecule drugs that block the growth and spread of cancer by interfering with specific cell molecules involved in tumor growth and progression. Multiple targeted therapies have been approved by the US Food and Drug Administration (FDA) for treatment of specific cancers. Molecular genetic profiling is often needed to identify targets amenable to targeted therapies and to minimize treatment costs and therapy-associated risks.

BRAF variant analysis can provide helpful diagnostic information in the context of evaluation for Lynch syndrome.