NCCN Guidelines for risk management for women with BRCA mutations
Breast cancer screening
- Learning to be aware of changes in breasts beginning at age 18
- Clinical breast exam every 6-12 months beginning at age 25
- Annual breast MRI with contrast (or mammogram if MRI is unavailable) beginning at age 25
- Annual breast
MRI with contrast and mammogram at ages 30-75
- Consider 3D
mammography if available
- Screening after age 75 should be considered on an individual basis
- Consider participation in an imaging or screening clinical trial
Breast cancer risk reduction
- Discussion of risk-reducing mastectomy
- Consider medication to reduce breast cancer risk
Ovarian cancer risk management
- Risk-reducing removal of ovaries and fallopian tubes between age 35 and 40 and upon completion of child bearing.
- Delaying risk-reducing removal of ovaries and fallopian tubes until age 40-45 is “reasonable” for BRCA2 mutation carriers, because the average age of ovarian cancer onset is 8-10 years later than in BRCA1 mutation carriers.
- Routine ovarian cancer screening using transvaginal ultrasound and a CA-125 blood test is “of uncertain benefit” but may be performed at the doctor’s discretion starting at age 30-35.
- Removal of Fallopian tubes only (salpingectomy) is not standard of care for ovarian cancer risk reduction. There are ongoing clinical trials studying
salpingectomy in women at high risk of ovarian cancer.
Pancreatic cancer and melanoma screening
- No specific guidelines exist for pancreatic cancer and melanoma. Screening for these cancer should be individualized based on cancers seen in the family.
- For patients of reproductive age, advise about options for prenatal diagnosis and assisted reproduction including pre-implantation genetic diagnosis.
Risk to relatives
- Advise about possible inherited cancer risk to relatives, options for risk assessment, and management.
- Recommend genetic counseling and consideration of genetic testing for at-risk relatives.