Overview

Genes are messages that give instructions for how cells in your body grow and function. Genes come in pairs, and we inherit (receive) 1 copy from each parent. The PALB2 gene protects you by controlling how your cells grow.

Inheriting the PALB2 gene

If you have a fault (mutation) in one of your PALB2 genes, you are known as a carrier. This means you have 1 regular copy of the gene and 1 faulty copy. If you have a faulty PALB2 gene, there is a 1 in 2 (50%) chance of passing the faulty gene to each child you have.

If you have 1 faulty copy of your PALB2 gene, you will be at increased risk of certain types of cancers, such as breast and ovarian cancer. 

Testing for faulty PALB2 genes

If you know that someone in your family is a PALB2 carrier, there is a genetic test that can show if you have inherited the same faulty gene. We call this a predictive test. It involves taking a blood sample.

Before we offer you a predictive test, we will explain what the test could mean for you and your family. We will give you the opportunity to ask questions. Your genetics clinician will help you think about:

• if now is the right time to be tested
• how you might react and adjust to the test result
• who you plan to talk to, or tell, about the test and result
• how this test could affect you, your family, children, or relationships
• if the result could affect your employment or insurance
• what steps you might take to protect yourself against getting cancer

After we have taken a blood sample, the results of a predictive PALB2 gene test take 4 to 8 weeks to be processed. When the result is ready, you will be told and offered further appointments, if needed.

Negative result

A negative result means you have not inherited the PALB2 gene fault. This means that your risk of getting PALB2-related cancers are not increased. 

It also means that you cannot pass this gene fault to any children you might have.

Positive result

If your result is positive, you have inherited the PALB2 faulty gene. This means you have an increased risk of getting certain types of cancer. 

There is a 1 in 2 chance that each child you have will inherit the PALB2 gene fault from you. They will be able to discuss genetic testing for themselves when they are 18 or older.

Breast cancer risk

• In the general population, up to 14 out of 100 women will get breast cancer.
• Up to 53 out of 100 women with a faulty PALB2 gene will get breast cancer. 
• If you have already had breast cancer, your risk of getting a second primary breast cancer is higher, but depends on your family history too. 
• There is a small increased risk of men getting breast cancer if they have a faulty PALB2 gene. This is about 1 out of 100 men. 

Ovarian cancer risk

• In the general population, up to 2 out of 100 women will get ovarian cancer. 
• Up to 5 out of 100 women with a faulty PALB2 gene will get ovarian cancer. 

Pancreatic cancer risk

• In the general population, up to 1 out of 100 people will get pancreatic cancer.
• Up to 2 out of 100 women with a faulty PALB2 gene will get pancreatic cancer. 
• There is small increased risk of men getting pancreatic cancer if they have a faulty PALB2 gene. This is about 3 out of 100 men. 

Managing your risk

Our knowledge about PALB2 is quickly increasing, and advice could change over time. Specific risk figures and screening advice can depend on your family history, and you can discuss this with your genetic clinician.

If your results are positive, your genetics clinician will be able to tell you how you can manage your risk, and look out for early signs of cancer.

It’s important to stay aware of the signs and symptoms of cancers. You should book an appointment with your GP if you have any symptoms of cancer.

Managing a risk of breast cancer

Women can get MRI or mammogram scans for breast cancer between the ages of 30 and 70. Depending on your personal risk, you might be able to get scans from the age of 25.

You can consider having risk-reducing surgery by removing both breasts (bilateral mastectomy). This is sometimes called a double mastectomy. You can have this with or without breast reconstruction.

There is no breast screening for men. However, men are advised to be ‘chest aware’ and you should tell your GP if you have any symptoms of male breast cancer.

Managing a risk of ovarian cancer

Women might choose to have their ovaries and fallopian tubes removed. This is generally recommended from the age of 45 to 50, and only after you have completed your family. 

There is no effective screening for ovarian cancer, so you should stay aware of the symptoms of ovarian cancer.

Managing a risk of pancreatic cancer 

There is no effective screening for pancreatic cancer, so you should stay aware of the symptoms of pancreatic cancer.

Leading a healthy lifestyle

Eating a lot of processed and red meat, sugary foods, and refined grains can lead to an increased risk of cancer. Eating a diet rich in fruits, vegetables, whole grains, and lean proteins can reduce your risk of cancer. 

A few things you can do to lead a healthy lifestyle are:

• quit smoking
• limit your alcohol
• exercise regularly
• keep to a healthy weight
• eat a balanced diet

It's not always possible to avoid every cancer risk factor, but making small changes to your lifestyle can help reduce your overall risk of cancer.

The NHS has more information on staying healthy and eating well. 

More support

Deciding whether to get tested, and waiting for the results, can be challenging. Some people might want to talk through their feelings, coping strategies and other issues before deciding, or after getting their result. There is support available to people with a faulty PALB2 gene, through:

• your genetics clinician
• the HBOC family service
• your clinical psychologist
• your GP

Your genetics clinician will discuss these with you in more detail so you can decide what the best sources of support will be.

The hereditary breast and ovarian cancer (HBOC) family service

People with PALB2 gene faults are invited to our HBOC family service clinic. You can ask questions and discuss your management in detail with a team of specialists.

Research studies

Whatever your test result is, there might be an opportunity for you to take part in research. Your genetics clinician or a research nurse will discuss this with you. For more information, contact a member of the research team, phone: 020 7188 2603.

Cancer charities

• Breast Cancer Now provide information and support for people affected by breast cancer.
• Someone Like Me is a service from Breast Cancer Now that puts you in touch with a trained volunteer for advice and support.
• Macmillan Cancer Support provide advice for everyone affected by any cancer.