PALB2: Screening & Prevention

25
(or earlier based on youngest age of breast cancer in the family)

Breast awareness

Learn to be aware of changes in your breasts and potential signs of breast cancer.

Self exams may be most informative at the end of the menstrual cycle.

25
(or earlier based on youngest age of breast cancer in the family)

Clinical breast exam

Breast exam by doctor every 6-12 months.

The guidelines recommend that people who have risk-reducing mastectomy continue to receive clinical breast exams.

30
(or earlier based on youngest age of breast cancer in the family)

Breast MRI

Yearly breast MRI with and without contrast.

30
(or earlier based on youngest age of breast cancer in the family)

Mammogram

Yearly mammogram.

No set age

Discuss risk-reducing surgery

Have a conversaton with your doctor about 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.

Clinical breast exam should be continued after risk-reducing mastectomy.

No set age

Discuss risk-reducing medications

Have a conversation with your doctor about the benefits, risks and costs of medications to lower the risk for breast cancer.

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

75

Discuss whether to continue screening

Have a discussion with your doctor about whether to continue, stop or change breast screening.

No set age

Breast awareness

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

35

Clinical breast exam

Yearly breast exam by doctor.

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

Discuss screening

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

75

Discuss whether to continue screening

Have a discussion with your doctor about whether to continue, stop or change breast screening.

45 - 50

Surgical removal of ovaries and fallopian tubes

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).

• Discuss your plans for pregnancy and fertility concerns with your doctor, and request a referral to a fertility specialist if indicated.
• The surgery should be done at a facility that has expertise and follows special precautions for people with inherited mutations. The surgeon should perform a procedure known as an abdominal wash at the time of surgery. The pathologist should do a thorough exam of the fallopian tubes using a procedure called SEE-FIM.
• 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.

At the time of surgical removal of the ovaries

Surgical removal of the uterus

PALB2 mutations are not known to increase the risk of endometrial cancer. However, some people may choose to have their uterus removed at the time as risk-reducing surgery to remove the ovaries and fallopian tubes.

Talk with your healthcare team about the possible benefits, risks and costs of hysterectomy as part of your surgical plan.

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

Salpingectomy (removal of the fallopian tubes only)

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.

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

For women who choose this surgery, the guidelines also recommend the following:

• If you choose to have risk-reducing salpingectomy first, the guidelines recommend that you undergo surgery to remove your ovaries (known as a completion oophorectomy) at the recommended age.
• Discuss your plans for pregnancy and fertility concerns with your doctor, and request a referral to a fertility specialist prior to surgery.
• The surgery should include a procedure known as an abdominal wash. The pathologist should do an extensive exam of the fallopian tubes using a procedure called SEE-FIM.
• 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.

No set age

Medications to lower your risk

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 effect of oral contraceptives on breast cancer risk has been mixed.

No set age

Symptom awareness

Become aware of ovarian and primary peritoneal cancer symptoms. Report 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

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 screening

• 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.

40

Discuss screening

• Have a conversation with your doctor about the potential benefits, risks, costs and limitations of screening for prostate cancer.
• If you choose to have screening, the guidelines recommend an annual Prostate Specific Antigen (PSA) test. Many experts also recommend a digital rectal examination that allows your doctor to feel for abnormalities in the prostate.
• Researchers are testing new approaches to prostate cancer screening for high-risk people through clinical trials.

75

Discuss whether to continue screening

For men who have chosen to have prostate cancer screening, have a discussion with your doctor about whether to continue, stop or change the timing of your screening.