Definition

The BRAF gene (7q34) encodes a serine/threonine kinase involved in the RAS-RAF-MEK-ERK (MAPK) signaling pathway; the most common somatic variant, V600E, located in exon 15, permanently activates the kinase, leading to uncontrolled cell proliferation. This variant is found in about 40 to 60% of malignant melanomas, in papillary thyroid cancers, and in about 8 to 15% of colorectal cancers; it predicts response to BRAF inhibitor therapy.

Method

DNA analysis

Accepted Sample Types

Fresh tumor tissue, Paraffin block, Lymphoid tissue

Description

In Colorectal Cancers, Lung Cancer, Malignant Melanoma, Non-Small Cell Lung Cancer (NSCLC), Papillary Thyroid Cancer, and Non-Hodgkin Lymphoma (NHL); response to EGFR inhibitor (TKI) therapy, Erbitux (Cetuximab), Vectibix (Panitumumab).

Inheritance

Somatic (acquired in tumor tissue, not inherited); germline variants in BRAF are separately associated with RASopathies such as Cardiofaciocutaneous syndrome.

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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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