Definition

TP53 is a tumor suppressor gene and a key regulator of cell cycle control and apoptosis; germline heterozygous pathogenic variants are the molecular diagnostic criterion for Li-Fraumeni syndrome. A germline TP53 pathogenic variant is detected in about 70% of individuals with Li-Fraumeni syndrome; the syndrome is characterized by an early-onset, multiple cancer risk, including premenopausal breast cancer, sarcomas, adrenocortical carcinoma and brain tumors.

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

DNA analysis

Accepted sample types

Blood (EDTA), Fresh tumor tissue, FFPE

Description

Diagnosis.

Inheritance

This test is performed in a germline (hereditary) context; somatic mutations in TP53 are also independently common in many sporadic cancers, but that is a different tumor tissue test.

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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