Definition

HRAS is a GTPase of the RAS family that activates the MAPK and PI3K/AKT signaling pathways; somatic activating mutations have been identified in a subset of bladder cancers, in head and neck squamous cell carcinomas (approximately 5 to 8%), and in follicular neoplasms of the thyroid. Germline HRAS mutations cause Costello syndrome (part of the RASopathy group).

Gene/region examined

HRAS exon 1, HRAS exon 2

Method

DNA analysis

Accepted sample types

Fresh tumor tissue, FFPE

Description

Various cancer types.

Inheritance

HRAS mutations found in cancers are largely somatic; the mutations found in Costello syndrome are germline (inherited, often de novo) in nature.

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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