Definition

SOD2 (mitochondrial superoxide dismutase, MnSOD) encodes an enzyme that neutralizes oxidative stress in mitochondria. In some studies, the Ala16Val (rs4880) polymorphism has been associated with oxidative stress response and treatment toxicity in patients treated with tamoxifen; this association does not have clinical evidence as strong as the CYP2D6-tamoxifen relationship.

Gene/region examined

MnSOD

Method

Mini Sequencing

Accepted sample types

Peripheral blood (EDTA)

Inheritance

Germline/hereditary.

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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