Definition

The BRAF gene encodes a protein kinase that participates in the MAPK pathway, which transmits cell growth signals. About 10% of colorectal cancers carry an acquired (somatic) mutation in BRAF; the large majority is the V600E change, which keeps the kinase continuously active. Tumors carrying BRAF V600E form a distinct clinical subgroup: they are often located in the right colon, occur at an older age, have high-grade histology, and are generally associated with a worse prognosis; they are also linked to resistance to anti-EGFR therapies. Knowing BRAF status therefore guides treatment selection.

Genes/regions examined

BRAF, EGFR, KIT, KRAS, NRAS, PDGFRA, AKT1, ALK, CTNNB1, ERBB3, ESR1, FOXL2, GNA11, GNAQ, IDH1, IDH2, MET, RAF1, RET, ERBB2, PIK3CA, TP53

Method

Next Generation Sequencing

Accepted sample types

Solid Tumor, FFPE

Inheritance

Somatic, not inherited. BRAF mutations are acquired within tumor cells after birth, are not passed through germ cells, and are not transmitted from generation to generation in the family.

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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