Facts for people and families with a faulty PALB2 gene

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 have 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.

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.

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'