PALB2 Gene Mutations

What is PALB2?

PALB2 is a gene that helps repair damage to your DNA. People who are born with changes—called mutations—in the PALB2 gene have an increased risk for certain types of cancer.   

Which cancers are associated with a PALB2 mutation?

People with an inherited mutation in PALB2 have an increased risk for the following cancers:

• breast
• fallopian tube
• ovarian
• pancreatic
• prostate (more research is needed to confirm this link)

Does everyone with a PALB2 mutation develop cancer?

Although the lifetime risk for cancer with a PALB2 mutation is increased not everyone with the mutation develops cancer. Following the guidelines for screening and prevention increases the chances of preventing cancer or catching it at its earliest and most treatable stage.

Can men have a PALB2 mutation?

Men and women can carry a PALB2 mutation. PALB2 mutations can be passed down from fathers or mothers to their sons and daughters. 

Can PALB2 skip a generation?

BRCA1 is a gene. Genes do not skip generations.

Mutations in the PALB2 gene may be passed down from parents to children, but mutations do not skip generations either. Each person with a PALB2 mutation has a 50% chance of passing their mutation on to each of their children. Children who did not inherit their parent's PALB2 mutation cannot pass the mutation to their children. 

Cancer can skip generations.

Some people with a PALB2 mutation never develop cancer. They can still pass their mutation on to their children. A child who inherits their parent's PALB2 mutation will be at increased risk for cancer. If a parent with a mutation never develops cancer, but their child who inherited their mutation develops cancer, it can appear as though the mutation has skipped a generation. 

How do I find out if I have a PALB2 mutation?

Genetic testing is a type of medical test that can help people learn if they have an inherited mutation in PALB2 and other genes. The test can be performed on blood, saliva or tissue. The sample is collected and sent to a genetic testing lab. 

It's a good idea to speak with a genetics expert before having genetic testing. They will answer your questions about testing and ensure that the correct test is ordered. 

Does insurance cover the cost of PALB2 testing?

In most situations, the cost of genetic testing is covered by insurance. Depending on your situation, deductibles and co-pays may apply. 

How much does it cost to test for a PALB2 mutation?

In most cases, people can get genetic testing for $300 or less. In certain situations, people may be able to get genetic testing with no out-of-pocket costs. The cost to you may depend on several factors, including:

• your insurance coverage.
• the type of genetic test that was ordered.
• your personal and family history of cancer.

Some labs offer financial assistance to cover the cost of genetic testing for people who are experiencing financial hardship. 

What can people do if they are PALB2 positive?

If you test positive for a PALB2 mutation, you have options for screening, prevention and treatment of hereditary cancer. There are expert guidelines and clinical trials that focus on:

• cancer risks.
• screening, early detection and risk-reduction.
• treatment.

These guidelines are based on the most current research and updated yearly. People who test positive for a PALB2 mutation should speak with a genetics expert to make sure that their medical care is based on the most up-to-date information. 

If you test positive for a PALB2 mutation, you should inform your close blood relatives (first-, second-, and third-degree relatives) about your test results and encourage them to speak with a genetics expert. 

What is Fanconi Anemia and what does it have to do with a PALB2 mutation?

Fanconi Anemia (FA) is a rare and serious childhood disease that occurs in children who inherit two PALB2 mutations, one from each parent. Children who have FA have blood problems, physical and developmental issues, and an increased risk of certain cancers.