Definition

The PALB2 gene (FANCN) encodes a protein that binds to the BRCA2 protein and localizes it to sites of DNA double-strand break repair. In women carrying a monoallelic germline variant, the lifetime risk of breast cancer rises to ~35-40% (~12% in the general population); biallelic variants lead to Fanconi anemia complementation group N, with bone marrow failure, congenital anomalies and childhood cancer predisposition.

Gene/region examined

PALB2 - Whole Gene

Method

Sequence analysis

Accepted sample types

EDTA blood, AF, CVS

Inheritance

Hereditary; a monoallelic variant is inherited as autosomal dominant breast/pancreatic cancer susceptibility, while biallelic variants are inherited as autosomal recessive (AR) Fanconi anemia.

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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