Definition

BRAF is a serine/threonine kinase in the RAS-RAF-MEK-ERK (MAPK) signaling pathway; the most common activating mutation is V600E. It is found in about 40 to 60% of melanomas, 40 to 45% of papillary thyroid cancers, and 8 to 12% of colorectal cancers; its presence in colorectal cancer is associated with resistance to anti-EGFR therapies, and in melanoma/thyroid cancer it directly guides the choice of BRAF/MEK inhibitor therapy.

Gene/Region Examined

BRAF Exon 11, BRAF Exon 15

Method

DNA analysis

Accepted Sample Types

Fresh tumor tissue, FFPE

Description

Response to EGFR inhibitor (TKI) therapy.

Inheritance

BRAF mutations in cancers are almost entirely somatic; germline BRAF variants cause Cardiofaciocutaneous syndrome, part of the RASopathy group.

Related Tests

Inheritance Patterns

Describes how a genetic condition is passed on within a family. There are five main patterns

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Carrier (Heterozygous / Homozygous)

Why it matters: In autosomal recessive inheritance, when each parent is a carrier (while both appear healthy), the chance of their child being born with the disease is 25% in each

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VUS (Variant of Uncertain Significance)

This is the situation where the test has detected a change in the DNA, but the role of this change in the development of disease is unconfirmed.

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How to Read a Genetic Test Result (Positive / Negative / VUS)

A genetic test result falls into three main categories

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Types of Genetic Tests

A genetic test is a type of medical test that detects changes in genes, chromosomes or proteins. Today there are more than 77,000 genetic tests available.

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