Surveillance

For patients who wish to delay surgical risk reduction breast cancer surveillance and ovarian cancer screening may be offered. Patients should be educated regarding the signs and symptoms of breast, ovarian, and other associated cancers.

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Breast Evaluation

Beginning at the age of 18 self breast exams may facilitate awareness of changes. Clinical breast exams should be performed every 6 to 12 months beginning at age 25.

 

Annual Mammography

Mammography should begin at age 30 or 5 years before the earliest age of cancer diagnosis in the family. While the risk of radiation associated breast cancer from mammography is believed to be small it needs to be weighed agains the diagnostic benefits of mammograms starting at an earlier age.

 

Magnetic Resonance Imaging (MRI) and Other Modalities

MRI for breast cancer screening is recommended annually beginning at age 25 and should be staggered by 6 months with annual mammograms. Data regarding the role of screening breast ultrasound have not demonstrated additional benefit in BRCA patients.

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Ovarian Cancer Screening

BRCA mutation carriers who have not undergone removal of the ovaries may undergo ultrasound and CA-125 blood screening every 6 months beginning at age 30 or 5 to 10 years before the earliest age of a relative diagnosed with ovarian cancer.

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Men with a BRCA Mutation

There are no proven risk reducing surgical options for male BRCA mutation carriers. Therefore the following screening strategy is recommended:

• Monthly breast self exams starting at age 35.

• Clinical breast evaluation every 12 months starting at age 35.

• Men should discuss with their clinician the role of baseline                    mammogram at age 40.

• Prostate cancer screening starting at age 40.

 

Other Cancer Screening

There is no consensus regarding screening for melanoma or pancreatic cancer. Possible recommendations involve full body skin exams and research trials for pancreatic cancer screening. Guidelines for colon cancer screening in BRCA mutation carriers do not differ from those in the general population. However if an individual has a family history of colon cancer or a prior adenoma, then more aggressive screening may be recommended.

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Chemoprevention

Chemoprevention strategies to reduce the risk of cancer have focused on estrogen receptor modulators and aromatase inhibitors in women at high risk women for breast cancer. The use of oral contraception in women with a BRCA mutation may reduce the risk of ovarian cancer, but may increase the risk of breast cancer.

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Other Mutations

For women who carry mutations in genes other than BRCA that confer moderate risk for breast cancer like PALB2, CHEK2, and ATM the options for breast cancer prevention are similar to BRCA mutation carriers.

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Mastectomy

Risk reducing removal of both breasts decreases cancer by as much as 90%. However, risk reducing surgery does not completely eliminate the risk of developing cancer. Patient with a BRCA mutation are increasingly being offered skin sparing mastectomy with or without preservation of the nipple and areola because of superior cosmetic results.

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Breast Reconstruction

Most patients undergoing prophylactic mastectomy are candidates for immediate breast reconstruction. A greater focus on good cosmetic results is possibly in this group of patients who are unlikely to require postoperative chemotherapy or radiation treatment. Surgical techniques such as nipple sparing mastectomy and hidden scar mastectomy can often be utilized.

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Bilateral Salpingo-Oopherectomy

Patients who carry a BRCA mutation should be referred to a gynecologic oncologist for a discussion about preventative surgeries. Removal of the fallopian tubes and ovaries is the most effective approach to reduce risk and decreases the risk of ovarian cancer in BRCA patients by 80%. Pre and peri-menopausal women who undergo removal of the ovaries will likely experience side effects of surgically induced menopause.

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Fertility Preservation

Women considering removal of the ovaries who have not completed childbearing should be counseled about alternative reconstructive options. For women who wish to preserve their ability to have a genetic child embryo or oocyte cryopreservation is an option.

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Hysterectomy and Hormone Replacement Therapy

Hysterectomy is not routinely recommended as part of risk reduction surgery, nor are there any national guidelines that recommend hysterectomy. However, some BRCA1/2 mutation carriers choose to undergo hysterectomy at the time of salpingo-oophorectomy to enable them to take unopposed estrogen hormone replacement therapy to manage menopause symptoms. Unopposed estrogen hormone replacement therapy is taking estrogen without progesterone. 

The rationale for possible hysterectomy in this setting is as follows:

1. Estrogen therapy alone incurs a lower risk of breast cancer than when estrogen is combined with progestin.

2. However, unopposed estrogen therapy in women who have a uterus, increases the risk of endometrial cancer.

It is therefore important to have at least a discussion about these options preoperatively to determine whether the benefits associated with having a hysterectomy are large enough to outweigh the risks associated with more extensive surgery.

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Treatment of BRCA carriers with a Personal History of Cancer

Treatment of patients who undergo genetic testing after they have been diagnosed with cancer is more complex. Women who are candidates for breast conservation therapy may opt to undergo double mastectomy to reduce their risk of a second breast cancer. Risk reducing bilateral salpingo oophorectomy should be recommended in mutation carriers with a breast cancer diagnosis.

Treatment of prostate cancer in men with a BRCA mutation does not differ from sporadic prostate cancer treatment. However, because prostate cancer in BRCA carriers is more aggressive; treatment with surgery or radiation may be recommended instead of active surveillance.