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 screening is done using two types of medical procedures:
- Magnetic resonance cholangiopancreatography (MRCP) is a special type of imaging MRI that is used to look at the pancreas, liver, gallbladder, bile duct and pancreatic duct.
- Endoscopic ultrasound (EUS) involves passing a tiny scope with an attached ultrasound probe down the esophagus to the stomach. This allows doctors to look closely at the pancreas.
Experts guidelines say:
- People with a mutation in BRCA1 or BRCA2 and those with a family history of pancreatic cancer, are encouraged to discuss the pros and cons of annual screening with their health care provider.
- Experts do not currently recommend pancreatic cancer screening for people with a BRCA1 or BRCA2 mutation who do not have a close family history of pancreatic cancer.
- For those who decide to undergo pancreatic cancer screening, consider beginning at age 50 or 10 years earlier than the earliest pancreatic cancer diagnosis in the family.
- Screening should begin with annual MRCP and/or EUS (both ideally performed at a center with expertise).
People with a BRCA1 or BRCA2 mutation may also be eligible for pancreatic cancer screening clinical trials. Visit our research study page for links to clinical trials for early detection of pancreatic cancer.
- Education regarding signs and symptoms of melanoma, especially those associated with BRCA gene pathogenic/likely pathogenic variants.
- General melanoma risk management is appropriate, such as annual full-body skin examination and minimizing sun exposure.
- 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.