BRCA1: Options for Managing Risk

18

Learn to be aware of changes in your breasts.

25

Breast exam by doctor every 6-12 months.

25 (or earlier based on family history)

Yearly breast MRI with and without contrast beginning at age 25 and continuing until age 75.

If MRI is not available, mammogram screening should begin at age 25.

30

Yearly mammogram.

No set age

Discuss the benefits, risks and costs of double mastectomy with your doctor.

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.

75

Consider whether to continue, stop or change breast screening.

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.

35-40

Risk-reducing removal of ovaries and fallopian tubes (RRSO). Timing of surgery should take into account plans to have children.

• Salpingo-oophorectomy in people with BRCA1 mutations has been linked to longer survival compared to people who have not had surgery.
• 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. Research suggests that hormone replacement therapy is safe after oophorectomy in people who are still premenopausal at the time of surgery and have never been diagnosed with breast cancer.
• 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.

35-40

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:

• BRCA1 mutations slightly increase the risk for a rare but aggressive type of uterine cancer.
• 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 is effective for lowering the ovarian cancer risk in high-risk people.
• For this reason, experts recommend that people who choose salpingectomy have a completion oophorectomy to lower their remaining risk for ovarian cancer when they are ready.
• 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 in people with BRCA1 mutations.
• Progestin intrauterine devices (IUD) may also lower the risk for ovarian cancer in people with BRCA1 mutations.
• 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

40

• 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 digital rectal exam and Prostate Specific Antigen (PSA) test.

ASGE

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

For BRCA1 mutation carriers regardless of family history of pancreatic cancer

Annual screening for pancreatic cancer with MRI/MRCP or EUS

NCCN

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

For BRCA1 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.