Definition

The TP53 gene encodes the 'guardian of the genome' p53 protein, which triggers cell cycle arrest, DNA repair, or apoptosis in response to cellular stress and DNA damage. Germline heterozygous loss of function mutations cause Li-Fraumeni syndrome, which confers a very high lifetime risk (up to ~90% in women) of multiple cancer types in childhood and adulthood, including sarcoma, breast cancer, brain tumors, adrenocortical carcinoma, and leukemia.

Gene/region examined

TP53 - Exon 2, TP53 - Exon 3, TP53 - Exon 4, TP53 - Exon 5, TP53 - Exon 6, TP53 - Exon 7, TP53 - Exon 8, TP53 - Exon 9, TP53 - Exon 10, TP53 - Exon 11

Method

Sequence analysis

Accepted sample types

EDTA blood, AF, CVS

Inheritance

Hereditary (germline), autosomal dominant; somatic TP53 mutations are also very common in sporadic tumors, but this test targets germline analysis.

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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