PALB2 Gene Mutations
Information for People with an Inherited PALB2 Mutation
What are the cancer risks for people with a mutation?
People with an in PALB2 have increased risk for certain cancers, including:
- breast cancer (male and female)
- pancreatic
- ovarian
What can people with a PALB2 mutation do?
People with a PALB2 mutation have options for screening, prevention and treatment of . There are expert guidelines and clinical trials that focus on:
- screening and early detection
- risk-reduction
- treatment
There may be other medical concerns for people with a PALB2 mutation, including a rare childhood disease known as Fanconi anemia which can happen in people who inherit a mutation in both copies of their PALB2 gene.
Each of these topics is outlined in more detail in the sections highlighted below.
More Information on PALB2 Mutations
Cancer Risks
Cancer risk estimates are updated based on the latest research. Read about the lifetime risk for different cancers in people with inherited PALB2 mutations.
Risk Management Options
Read about the latest expert guidelines for cancer screening and prevention for people with a PALB2 mutation. Learn about research studies enrolling high-risk patients.
Cancer Treatment Options
Tumor biomarker testing and genetic testing can provide additional clues about which treatments may work best for your cancer. People who test positive for a PALB2 mutation may have additional treatment or clinical trial options available to them.
Other Considerations
People who inherit a mutation in both copies of their PALB2 gene—one from each parent—have a rare disease known as Fanconi anemia. Learn additional information about inherited PALB2 mutations.
More Resources
Participate in Prevention Research
The screening and prevention studies below are enrolling people with PALB2 mutations. To search for more studies, visit our Search and Enroll Tool.
Screening Study for Pancreatic Cancer in People with Inherited Mutations
Clinicaltrials.gov identifier: NCT05058846
PATROL Study: Prostate Cancer Screening for People AT Genetic Risk FOr Aggressive Disease
Clinicaltrials.gov identifier: NCT04472338
Screening Study for Men at High Genetic Risk for Prostate Cancer
Clinicaltrials.gov identifier: NCT03805919
Participate in Treatment Research
The treatment studies below are enrolling people with PALB2 mutations. To search for more studies, visit our Search and Enroll Tool.
NePtune: Using PARP Inhibitors Before Surgery in Localized Prostate Cancer
Clinicaltrials.gov identifier: NCT05498272
Study of the Drug Olvi-Vec in Women with Ovarian Cancer
Clinicaltrials.gov identifier: NCT05281471
Clinicaltrials.gov identifier: NCT06115499
New Treatment in People with Triple Negative Breast Cancer or Advanced Solid Tumors
Clinicaltrials.gov identifier: NCT06022029
Clinicaltrials.gov identifier: NCT05720039
Stories from the PALB2 Community
August 24, 2020
Watch Our Expert Webinars on PALB2 Mutations
What's new for people with ATM, CHEK2 or PALB2 mutations?
Cancer Risks, Screening and Prevention for People with ATM, CHEK2, PALB2 and Other Genes