PALB2 Gene Mutations
Information for People with an Inherited Mutation
What are the cancer risks for people with a mutation?
People with an in have increased risk for certain cancers, including:
- breast cancer (male and female)
- pancreatic
- ovarian
What can people with a mutation do?
People with a 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 mutation, including a rare childhood disease known as Fanconi anemia which can happen in people who inherit a mutation in both copies of their gene.
Each of these topics is outlined in more detail in the sections highlighted below.
More Information on 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 mutations.
Risk Management Options
Read about the latest expert guidelines for cancer screening and prevention for people with a mutation. Learn about research studies enrolling high-risk patients.
Cancer Treatment Options
Tumor testing and genetic testing can provide additional clues about which treatments may work best for your cancer. People who test positive for a mutation may have additional treatment or clinical trial options available to them.
Other Considerations
People who inherit a mutation in both copies of their gene—one from each parent—have a rare disease known as Fanconi anemia. Learn additional information about inherited mutations.
More Resources
Participate in Prevention Research
The screening and prevention studies below are enrolling people with mutations. To search for more studies, visit our Search and Enroll Tool.
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
Testing a Vaccine for Preventing or Treating Triple-Negative Breast Cancer
Clinicaltrials.gov identifier:
NCT04674306
Participate in Treatment Research
The treatment studies below are enrolling people with 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
Vaccines for Pancreatic Cancer After Chemotherapy
Clinicaltrials.gov identifier:
NCT05111353
Clinicaltrials.gov identifier:
NCT05417594
Clinicaltrials.gov identifier:
NCT05720039
Clinicaltrials.gov identifier:
NCT04030559
Clinicaltrials.gov identifier:
NCT04550494
Clinicaltrials.gov identifier:
NCT04038502
Stories from the Community
August 24, 2020
Watch Our Expert Webinars on 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