Definition

BRCA1 and BRCA2 are tumor suppressor genes involved in DNA double-strand break repair; pathogenic germline variants lead to hereditary breast/ovarian cancer syndrome (HBOC). NCCN criteria recommend testing in individuals with breast cancer at a young age, triple-negative breast cancer, or a personal/family history of ovarian cancer.

Method

Next Generation Sequencing

Accepted sample types

Blood (EDTA)

Description

Covers sequence analyses of the BRCA1 and BRCA2 genes. ~100X coverage, CNV analysis included.

Inheritance

A germline (hereditary) sequence analysis; it forms the basis for cascade carrier testing in family members.

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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