Definition

CHEK2 is a tumor suppressor gene activated by ATM that regulates cell cycle arrest in response to DNA damage. The most common variant, c.1100delC, increases breast cancer risk about 2 to 3 fold in northern European populations (a moderate-penetrance gene); it has also been associated with risk of colorectal, prostate, and thyroid cancer.

Gene/Region Examined

CHEK2 Exon 9, CHEK2 Exon 10

Method

DNA analysis

Accepted Sample Types

Blood (EDTA), Fresh tumor tissue, FFPE

Description

Response to drug therapy.

Inheritance

Hereditary (germline), autosomal dominant moderate-penetrance susceptibility gene; unlike BRCA1/2, its penetrance is lower.

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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