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PALB2: Risk Management

Learn about the screening and prevention guidelines for people with a mutation in their PALB2 gene. Stay up to date by signing up for our community newsletter.
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Risk Management for People with Inherited Mutations

People with mutations have options for managing their increased cancer risk. Experts at the National Comprehensive Cancer Network (NCCN) created guidelines for people with an mutation to manage their cancer risk. We recommend that you speak with a genetics expert who can look at your personal and family history of cancer and can help you decide on a plan for managing your risk.

NCCN recommends that all people with an inherited mutation receive education on the signs and symptoms of PALB2-related cancers. NCCN guidelines for specific cancers are listed below. 

 


People with an  mutation may also qualify for clinical trials looking for more effective screening, prevention or interception of cancer.

Note that when we use "men" and "male" we are referring to people assigned male at birth. When we use "women" and "female" we are referring to people assigned female at birth.


Breast cancer risk management for women and people assigned female at birth

Beginning Age

Recommendation

Additional Information

25

Learn to be aware of changes in your breasts.

Based on NCCN guidelines for women of average risk.

25

Breast exam by doctor every 1-3 years.

Based on NCCN guidelines for women of average risk.

30 (or earlier based on family history of breast cancer)

Discuss the benefits, risks and costs of yearly breast MRI with and without contrast with your doctor.

30 (or earlier based on family history of breast cancer)

Yearly mammogram.

No set age

Discuss the benefits, risks and costs of risk-reducing mastectomy.

Risk-reducing mastectomy lowers breast cancer risk by 90%, but has not been shown to improve survival. Even after double mastectomy, some breast tissue, and therefore cancer risk remains.

No set age

Discuss the benefits, risks and costs of medications to lower the risk for breast cancer with your doctor.

Tamoxifen or other estrogen-blocking drugs may lower breast cancer risk. Medications or vaccines are being studied in clinical trials.

Source: NCCN Guidelines: Genetic/Familial High-Risk Assessment: Breast, Ovarian, Pancreatic, vs. 1 2025


Breast cancer risk management for men and people assigned male at birth

Beginning Age

Recommendation

35

Learn how to do a breast self-exam and be aware of changes in your breasts.

35

Breast exam by doctor every 6-12 months.

50 (or earlier based on the youngest case of male breast cancer in the family)

Have a discussion with your doctor about the benefits, risks and costs of annual mammograms.

Source: NCCN Guidelines: Genetic/Familial High-Risk Assessment: Breast, Ovarian, Pancreatic, vs. 1 2025


Ovarian and cancer risk management

Beginning Age

Recommendation

Additional Information

45 - 50

Have a discussion with your doctor about the benefits, risks and costs of risk-reducing removal of the ovaries and fallopian tubes (risk-reducing salpingo-oophorectomy).

  • The surgery should be done at a facility that has expertise and follows special precautions for people with inherited mutations. This includes a procedure known as an abdominal wash at the time of surgery. The pathologist should do an extensive exam of the fallopian tubes using a procedure called SEE-FIM to look for any abnormal changes in the tissue.
  • If an abnormality known as a "serous tubal intraepithelial carcinoma" or STIC lesion is noted in your pathology report, you should be referred to a gynecologic oncologist for follow up care.
  • Discuss options for managing the effects of early menopause with your doctor.
  • After RRSO, a very small risk remains for a related cancer known as primary peritoneal cancer (PPC). There is no effective screening for PPC after RRSO.
  • In people with BRCA mutations, risk-reducing surgery has been linked to longer survival compared to people who have not had surgery. Similar research has not been done in people with PALB2 mutations.

Before age 50

Have a discussion with your doctor about the risks, benefits and costs of removing your uterus (hysterectomy) at the time of RRSO.

The following factors may affect your decision about hysterectomy at the time of RRSO:

  • If you have a medical history of fibroids or other issues involving the uterus or cervix you might consider a hysterectomy.
  • If you are considering hormone replacement, the type of hormone recommended depends on whether or not you have your uterus.
    • Estrogen alone increases the risk for uterine cancer.
    • Estrogen combined with progesterone protects against uterine cancer, but is linked to a higher risk for breast cancer than estrogen alone.

Before age 50

Experts believe that most ovarian cancers begin in the fallopian tubes. Researchers are studying whether the removal of the fallopian tubes only (salpingectomy), while delaying oophorectomy until closer to the age of natural menopause is a safe option for lowering risk in people who are not ready to remove their ovaries. Guidelines recommend that people interested in this approach speak with their doctor about the benefits and risks, and consider enrolling in a research study.

  • At this time, it is not known if salpingectomy lowers the risk for ovarian cancer in high-risk people.
  • Salpingectomy, followed by delayed oophorectomy requires two separate surgeries.

No set age

Speak with your doctor about the benefits, risks and timing of oral contraceptives or progestin intrauterine devices (IUD) to lower the risk for ovarian and fallopian tube cancers.

  • Oral contraceptives (birth control pills) have been shown to lower the risk for ovarian cancer.
  • Progestin intrauterine devices (IUD) may also lower the risk for ovarian cancer in high-risk people.
  • Research on the affect of oral contraceptives on breast cancer risk has been mixed.

No set age

Become aware of ovarian and primary peritoneal cancer symptoms. Report to any symptoms that persist for several weeks and are a change from normal to your doctor.

Routine ovarian cancer screening using transvaginal ultrasound and a CA-125 blood test has not shown benefit and is not recommended.

Symptoms of ovarian cancer include:

  • pelvic or abdominal pain
  • bloating or distended belly
  • difficulty eating
  • feeling full sooner than normal
  • increased urination or pressure to urinate

Source: NCCN Guidelines: Genetic/Familial High-Risk Assessment: Breast, Ovarian, Pancreatic, vs. 1 2025


Pancreatic cancer risk management

Types of pancreatic cancer screening tests

There are two tests that are used to look for pancreatic cancer in high-risk people. 

  • MRCP (Contrast-enhanced magnetic resonance cholangiopancreatography) is a special type of  imaging that looks closely at the pancreas, liver, gallbladder, bile duct and pancreatic duct to find abnormalities such as cancer.
  • EUS (Endoscopic ) involves passing a tiny scope with an attached  probe down the esophagus to the stomach. This allows doctors to look closely at the pancreas.  

Researchers are testing new approaches to pancreatic cancer screening and prevention through clinical trials

Pancreatic cancer guidelines

Beginning Age

Family History

Recommendation

50 (or earlier based on the youngest case of pancreatic cancer in the family)

For PALB2 mutation carriers with a first- or second- degree relative with pancreatic cancer

  • Discuss the benefits, risks, costs and limitations of screening with your doctor.
  • Screening should include annual MRCP or EUS or both.
  • Screening should be performed in a facility with experience in screening high-risk patients for pancreatic cancer.

Source: NCCN Guidelines: Genetic/Familial High-Risk Assessment: Breast, Ovarian, Pancreatic, vs. 1 2025


Other cancers

There has not been enough research to show a benefit from screening and prevention for other cancers in people who have a mutation. For this reason, experts recommend managing these risks based on your family history. Cancer screening and prevention research studies may be available.


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


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Watch Our Expert Webinars on Mutations

Webinar: What's new for people with ATM, CHEK2 or PALB2 mutations?

Webinar: Cancer Risks, Screening and Prevention for People with ATM, CHEK2, PALB2 and Other Genes

Last updated September 22, 2024