What is PALB2?

PALB2 is the shortened name for a gene called ‘Partner and Localiser of BRCA2’. It’s job is to repair faulty DNA in cells. All people, men and women have two copies of the gene, it is located on chromosome 16. Some people carry a variant of the gene, sometimes called a mutation. This can mean the gene does not work correctly and increase the risk of cancer.

What risks of cancer come with a PALB2 mutation?

We would always recommend that you consult with your own genetic consultant or doctor to determine your risks and management options.

Mutations in the PALB2 gene have been associated with increased risks of the following cancers:

Breast Cancer: Women with a mutation may be at 33 to 58% lifetime risk of breast cancer

Ovarian Cancer: The lifetime risk of ovarian cancer is estimated at 3 to 5%.

Pancreatic Cancer: The lifetime risk is estimated at 1 to 2%.

Does it affect my cancer treatment?

People with a PALB2 mutation may be recommended to have different treatment compared to those without. This may mean different surgery or chemotherapy regime. You may also be eligible for a clinical trial. If you have a diagnosis of cancer speak to your doctor for more information.

Does it cause any other health problems?

Rarely children who inherit TWO faulty copies of the gene (i.e. one from each parent) can have a condition called Fanconi’s anaemia, which causes blood disorders, and problems with their growth and development. The gene is still being researched and it is possible new information may emerge in the future.

Can I pass on my mutation to my children?

PALB2 is an autosomal dominant gene. This means that inheriting only ONE faulty copy from either your mother or father will increase that person’s risk of cancer. If you have a PALB2 mutation there is a 50% chance that you will pass this on to any child. If you are planning a pregnancy please speak to your genetics team about this in more detail. They will be able to talk you through your options.

What is the recommendation for screening for people with a PALB2 mutation?

Breast cancer: Women with a PALB2 mutation will fall under the ‘high risk group’ for breast cancer screening.

The NHS (NICE) guidelines recommend an annual MRI scan, and possibly a yearly mammogram from age 30 to 49 years of age.

From 50 to 59 years of age an annual mammogram is recommended and an MRI if you have ‘dense breasts’.

From 60 to 69 years of age mammograms as part of the national screening programme and an MRI if you have ‘dense breasts’.

From 70 years onwards mammograms as part of the national screening programme.

No routine breast screening is recommended for men but they should be ‘breast aware’. The most common symptom is a lump behind or close to their nipple. Other symptoms could include a lump or swelling in the armpit or chest area, nipple changes such as soreness, rash, bleeding, getting drawn in or ‘inverted’.

Women should also be aware that they may wish to consider a risk reducing mastectomy. This is preventative surgery to reduce your risk of breast cancer.

Ovarian Cancer: no screening is currently recommended. Women should be offered the option of considering preventative surgery to remove their ovaries and fallopian tubes. This surgery is recommended around the age of natural menopause at 50 years of age.

Pancreatic Cancer: No screening is routinely recommended. If you have a family history of pancreatic cancer you may be eligible for a trial, read more here.

Where can I find out more information?

The latest international guidelines on management of PALB2 are available here. They are designed for reading by healthcare professionals.

The Liverpool Women’s Hospital has written a patient leaflet with more information available here.

How can I be tested for PALB2?

If you have a personal history of breast cancer then please speak to your doctors to find out if you have been tested or if you are eligible for testing. There are currently national criteria for testing which does not include all women with breast cancer. There are trials ongoing which are offering genetic testing to more patients. Find out more about the BRCA direct trial here, which includes PALB2 gene testing.

If you are concerned because you have a family history of cancer then please discuss this with your doctor or GP. They will ask you questions about your family history and may check if you are eligible for referral for testing. Read more about how to get more information on your family history here.

Currently testing for those without a personal history of cancer is restricted in the UK. Your GP may refer you to a genetic clinic, they will usually send you a questionnaire or conduct a phone call to find out more about your family history. This information will be used to work out how likely it is you carry a mutation in one of the genes and whether you meet the criteria for NHS testing. So for example for genetic testing for breast cancer genes you have to have at least a 10% chance of testing positive to qualify.

If you do not meet the NHS criteria for testing you may wish to explore testing privately. We have compiled a list of private providers here.

I have a PALB2 mutation, where can I get more support?

‘PALB2 Interest Group’ has lots of great resources and helps to co-ordinate research into PALB2 and share information. Their website is available here.

PALB2 Warriors Facebook Group is a very supportive group.

BRCA1/BRCA2 & High Risk Support UK is on facebook and offers support.

The Breast Cancer Genetics Helpline offers support and advice by telephone.

The US hereditary cancer charity FORCE has an excellent range of message boards that can be a good place to connect with others.

The American College of Medical Genetics and Genomics published international guidelines to help patients and their doctors, they are available here.