Definition

PTEN is a tumor suppressor gene that negatively regulates the PI3K/AKT pathway; germline pathogenic variants cause the PTEN Hamartoma Tumor Syndrome (PHTS) spectrum (including Cowden syndrome) and markedly increase the risk of breast, thyroid and endometrial cancer. Among patients clinically diagnosed according to the International Cowden Consortium criteria, a detectable PTEN mutation is found in only 30-35%.

Gene/region examined

PTEN - Exon 1, PTEN - Exon 2, PTEN - Exon 3, PTEN - Exon 4, PTEN - Exon 5, PTEN - Exon 6, PTEN - Exon 7, PTEN - Exon 8, PTEN - Exon 9

Method

DNA analysis

Accepted sample types

Fresh tumor tissue, FFPE

Description

Response to drug therapy.

Inheritance

This test is performed in a germline context (for PHTS/Cowden syndrome diagnosis); somatic mutations in PTEN are also independently common in many sporadic cancers.

Related Tests

Inheritance Patterns

Describes how a genetic condition is passed on within a family. There are five main patterns

Go to term →

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

Go to term →

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.

Go to term →

How to Read a Genetic Test Result (Positive / Negative / VUS)

A genetic test result falls into three main categories

Go to term →

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.

Go to term →