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Facts for people and families with a faulty PALB2 gene

This fact sheet contains general information. Each person should be referred to a genetic service for further information and advice about what a faulty PALB2 gene means for them.

Key Points

  • Both men and women with a faulty PALB2 gene have an increased chance of developing breast and pancreatic cancer.
  • Women with a faulty PALB2 gene have an increased chance of developing ovarian cancer.
  • Men with a faulty PALB2 gene have an increased chance of developing prostate cancer.
  • Men and women can be referred to a genetic service where experts can provide information, advice and support about their chance of developing cancer and the option of genetic testing.
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PALB2 is a ‘cancer protection’ gene that helps to protect against breast, ovarian, prostate and pancreatic cancer. 

Everyone has two PALB2 genes (one from their mother, and one from their father). If one of the genes is not working, this is known as having a faulty PALB2 gene, or having a PALB2 mutation.

  • Women with a faulty PALB2 gene have about a 55% chance of developing breast cancer and about a 5% chance of developing ovarian cancer over their lifetime.
  • Men with a faulty PALB2 gene have a 1% chance of developing breast cancer over their lifetime. Men with a faulty PALB2 gene also have an increased chance of developing prostate cancer over their lifetime, but the exact chance is unknown. 
  • Both men and women with a faulty PALB2 gene have about a 3% chance of developing pancreatic cancer over their lifetime.
  • Not everyone who has a faulty PALB2 gene will develop cancer.

Cancer in women:

  • To find breast cancer early, women with a faulty PALB2 gene should have breast cancer screening every year from at least age 30 years. This involves having a breast MRI every year until age 60 years. Once a woman with a faulty PALB2 gene reaches age 40 years, she should also have a mammogram every year.
  • To reduce the chance of getting breast cancer, women with a faulty PALB2 gene may take medications such as tamoxifen or raloxifene. Some women may consider breast surgery (risk-reducing mastectomy or RRM). 
  • There is no reliable method of screening for ovarian cancer. 
  • To reduce the chance of getting ovarian cancer, women with a faulty PALB2 gene should consider having their ovaries and fallopian tubes removed (risk-reducing salpingo-oophorectomy or RRSO) from age 50 years.

Cancer in men:

  • Men should have any breast lumps or changes checked by a doctor.
  • There is no recommended screening for prostate cancer for men with a faulty PALB2 gene.

Cancer in men and women:

  • To find pancreatic cancer early, people with a faulty PALB2 gene who have a family history of pancreatic cancer could have screening every year from age 50 years. This involves having a thin tube inserted through their mouth and an ultrasound of the pancreas performed (endoscopic ultrasound) or an MRI (MRI or MRI cholangiopancreatography). Where possible this imaging should be performed as part of a clinical trial.
  • To reduce the chance of getting pancreatic cancer, people with a faulty PALB2 gene should not smoke.

Adult family members of someone with a faulty PALB2 gene can have genetic testing to check who has the faulty gene and who does not. Their doctor can refer them to a genetic service to find out more about their chance of developing cancer and what genetic testing involves.

If a person does have the faulty PALB2 gene: 

  • they can pass it on to their children
  • each child has a 50% (1 in 2) chance of being born with it. Pregnancy planning options are available to people who want to prevent the faulty gene from being passed on.

When two people with the faulty PALB2 gene have children together, each child has a 25% (1 in 4) chance of being born with two faulty PALB2 genes. People with two faulty PALB2 genes have a condition called Fanconi anaemia (complementation group N). Fanconi anaemia may affect many parts of the body including bone marrow, skin, skeletal system, physical growth and development. People with Fanconi anaemia also have an increased chance of developing cancer from childhood.

If a person does not have the faulty PALB2 gene:

  • they have the same chance of developing cancer as the general population (unless there are other factors that increase this risk)
  • they cannot pass it on to their children.
People who decide not to have genetic testing should still get advice about managing their chance of developing cancer.

Version 4

Date Summary of changes
16/01/2025

What does this mean for family members section updated to include new paragraph  "When two people with the faulty PALB2 gene have children together..."

Version increased to V.4.

Version 3

Date Summary of changes
02/08/2023

Consumer information sheet reviewed in line with ID 1609. Approved for publication with the following changes made: 

  • Key points: prostate cancer added
  • What is a faulty PALB2 gene: prostate cancer added 
  • What is the risk of cancer for people with a faulty PALB2 gene: "Men with a faulty PALB2 gene also have an increased chance of developing prostate cancer over their lifetime, but the exact chance is unknown." added
  • How can this increased risk of cancer be managed:
    • Cancer in women: changed to breast MRI from age 30 years until age 60 years. Mammogram every year from age 40 years
    • Cancer in men: added "There is no recommended screening for prostate cancer for men with a faulty PALB2 gene."
    • Cancer in men and women: "There is no reliable method of screening for pancreatic cancer" changed to "To find pancreatic cancer early..."

Updated to version V.3. To be reviewed in line with protocol ID 1609 at next scheduled review.
11/03/2024 Removed link to PALB2 Interest Group (www.palb2.org) as link no longer valid.12/03/
13/03/2024

Consumer information sheet updated with the following change to align with the risk management document:

  • How can this increased chance of cancer be managed?: 
    • Cancer in women: "...women with a faulty PALB2 gene should have their ovaries and fallopian tubes removed..."  changed to "...women with a faulty PALB2 gene should consider having their ovaries and fallopian tubes removed..."

To be reviewed in line with protocol ID 1609 at next scheduled review.

Version 2

Date Summary of changes
01/05/2020

Consumer information sheet reviewed in line with ID 1609. Approved for publication with the following changes made: 

  • Key points:
    • First and second bullet points combined to say: "Both men and women with a faulty PALB2 gene may have an increased chance of developing breast and pancreatic cancer"
    • Second bullet point added: "Women with a faulty PALB2 gene have an increased chance of developing ovarian cancer."
  • What is a faulty PALB2 gene? section:
    • "... gene that helps to protect against breast and pancreatic cancer." changed to "...gene that helps to protect against breast, ovarian and pancreatic cancer."
  • What is the risk of cancer for people with a faulty PALB2 gene? section:
    • "Women with a faulty PALB2 gene have a 30-55% chance of developing breast cancer..." changed to "Women with a faulty PALB2 gene have about a 55% chance of developing breast cancer and about a 5% chance of developing ovarian cancer over their lifetime."
    • "Men with a faulty PALB2 gene have a 1% chance of developing breast cancer over their lifetime." added
    • "...may have an increased chance of developing pancreatic cancer ..." changed to "...have about a 3% chance of developing pancreatic cancer..."
  • How can this increased risk of cancer be managed? section:
    • Cancer in women
      • First bullet point: "...This involves having a mammogram (and sometimes a breast MRI)..." changed to "...This involves having a breast MRI (and sometimes a mammogram)..."
      • "There is no reliable method of screening for ovarian cancer" added
      • "To reduce the chance of getting ovarian cancer, women with a faulty PALB2 gene should have their ovaries and fallopian tubes removed (risk reducing salpingo-oophorectomy or RRSO) from 50 years of age." added
    • Cancer in men:
      • "Men should have any breast lumps or changes checked by a doctor." added

Updated to version V.2. To be reviewed again alongside protocol ID 1609 when next due for review.
12/05/2021 More information and support: Link to COSA - Medications to lower the chance of breast cancer: information for women inserted

Version 1

Date Summary of changes
27/04/2018 Developed in conjunction with consumer information sheet working group and presented at the November 2017 Cancer Genetics meeting. Discussions continued over email and document approved for publication. V.1. 
11/06/2019

What is the risk of cancer for people with a faulty PALB2 gene section: 

  • 'about a 30-55% chance' changed to 'a 30-55% chance'

This cancer genetics fact sheet is a guide only and cannot cover every possible situation. The information provided is not intended to replace discussion with a health professional, and should not be interpreted as medical advice. While eviQ endeavours to link to reliable sources that provide accurate information, eviQ and the Cancer Institute NSW do not endorse or accept responsibility for the accuracy, currency, reliability or correctness of the content of linked external information sources. Use of this document is subject to eviQ's disclaimer available at www.eviQ.org.au/copyright  

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https://www.eviq.org.au/p/3428

24 May 2025