BRAF Somatic Mutation Testing

BRAF somatic mutations are present in a wide variety of cancers including melanoma, non-small cell lung cancer, colorectal cancer, papillary thyroid cancer, ovarian cancer and as well as in a minor fraction of glioma and gastrointestinal stromal tumor (GIST). BRAF mutations are usually found in tumors wild type for EGFR, ALK, and other driver mutations. c.1799T>A/p.V600E mutation is the most frequent somatic
mutation identified in BRAF gene and is also the most important one with respect to therapeutic options and consequence.

Unlike other mutations in BRAF gene, Valine to Glutamic acid substitution at position 600 increases the
kinase activity of BRAF protein. This negatively impacts treatment outcomes for anti-EGFR monoclonal
antibodies in metastatic colorectal rectal cancer patients with KRAS wild type tumors. V600E mutation has increased sensitivity to BRAF inhibitors while shows decreased sensitivity to drugs like gefetinib.

Centogene offers multiple screening tests for targeted and general screening of mutations in BRAF gene.

A. Hot spot targeted mutation testing

Centogene offers quantitative PCR based approach to selectively screen or monitor c.1799T>A/p.V600E mutation in BRAF gene down to 0,05% allele frequency.

B. Selective sequencing of exon 15

V600E mutation occurring in exon 15 of BRAF gene comprises around 80-90% of all V600 mutation
identified in BRAF-related tumors. For comprehensive screening of all somatic mutations in exon 15 of BRAF gene, Centogene offers selective sequencing of complete exon 15 of BRAF through Next Generation Sequencing that can detect mutations at allele frequency down to at least 5%.

C. Full gene sequencing

Testing of complete coding region of BRAF gene is offered through Next Generation Sequencing that can detect mutations at allele frequency down to 5% in tumor sample.

D. Panel Testing

For general screening of somatic mutations, BRAF mutations/exons are also a part of broader multi-gene panels like Cancer Hotspots Panel (detects 77 described mutations in BRAF gene along with commonly described mutations in 49 other oncogenes), Myeloid Tumor Panel (covers exon 15 of BRAF along with
selective targeted regions in 53 other oncogenes and tumor suppressor genes involved in hematological malignancies) or Solid Tumor Panel (~96.5% of the coding region of BRAF gene is covered along with over 95% coverage of coding regions of 61 other tumor related genes) that are readily available on Centogene website.

E. Oncoarray testing

Detection of four important somatic mutations (c.1798_1799GT>AA/p.V600K, c.1799T>A/p.V600E, c.1406G>C/p.G469A and c.1406G>A/p.G469E) in BRAF at >30% allele frequency is also supported by our CentoArrayOnco where one can combine detection of selective actionable somatic mutations with copy number variations across 900 oncogenes and tumor related genes in tumor samples. This array includes apart from BRAF, 70 mutations in 8 other oncogenes.

Please refer to preferred test(s) on our test catalogue or ask our customer relations team for more specific information. We are constantly developing new tests. If your preferred test is not listed on the webpage, please contact us directly. We will be happy to assist you find the best possible solution for your patient.

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