BRCA2 Mutation Screening in Children
Genetic testing for BRCA2 mutations should not be performed in children and should be delayed until age 25 years, when cancer screening and risk-reducing interventions become medically beneficial. 1, 2, 3
Rationale for Delaying Testing Until Adulthood
The current standard of care is to defer BRCA2 genetic testing until individuals reach age 25 years, which coincides with the age when intensive breast cancer surveillance begins. 2, 3 This approach is supported by several key considerations:
No medical benefit in childhood: Breast cancer screening and risk-reducing interventions for BRCA2 carriers do not begin until age 25 years at the earliest, making earlier testing medically unnecessary. 2, 3
Psychosocial concerns: Testing children for adult-onset cancer predisposition can induce unnecessary anxiety about cancers that will not manifest for decades. 4
Research evidence supports waiting: A retrospective analysis of 379 families with BRCA1/2 mutations found that heterozygous BRCA mutations were not a risk factor for childhood cancer, supporting the practice of delaying testing until adulthood. 5
When Screening and Surveillance Begin
Once individuals reach age 25 years (or are tested and found to be BRCA2 mutation carriers), the following surveillance protocol should be initiated:
Clinical breast examination every 6-12 months starting at age 25 years (or 10 years before the youngest breast cancer diagnosis in the family, whichever is earlier). 2, 3
Annual breast MRI beginning at age 25 years, which demonstrates 77% sensitivity compared to only 36% for mammography alone in BRCA carriers. 3
Annual mammography starting at age 30 years in addition to MRI for comprehensive screening. 2, 3
Important Caveats and Special Circumstances
Exception for Pediatric Cancer Patients
The only scenario where BRCA2 testing may be appropriate in children is when a child is diagnosed with cancer and undergoes tumor-normal sequencing as part of their cancer care. 4 In these cases:
- Germline BRCA2 mutations may be incidentally discovered through tumor profiling panels. 4
- Such findings have immediate implications for family members and may prompt parental genetic testing and medical action. 4
- This represents an exception to the general rule, as the testing is performed for diagnostic purposes related to the child's current cancer, not for future risk assessment. 4
Biallelic BRCA2 Mutations (Fanconi Anemia)
Another rare exception is when biallelic BRCA2 mutations are suspected as a cause of Fanconi anemia, which presents with characteristic childhood cancers and bone marrow failure. 5 This is a distinct clinical scenario from hereditary breast and ovarian cancer syndrome.
Counseling Considerations for Families
When families with known BRCA2 mutations have adolescent or young adult children:
Encourage testing at age 25 years: Individuals from families harboring BRCA2 mutations who have not yet been tested should be encouraged to undergo testing at age 25 years to enable timely implementation of screening and risk-reducing measures. 1
Address knowledge gaps: Young adult daughters (ages 18-24) of BRCA mutation carriers often have suboptimal genetic knowledge with common gaps and misconceptions about their cancer risks. 6
Manage cancer-related distress: Over one-third of young adult daughters report high cancer-related distress despite normal levels of general distress, highlighting the need for targeted psychoeducation. 6
Discuss future planning concerns: Disclosed genetic information raises concerns about childbearing and future life decisions that should be addressed proactively. 6
Common Pitfalls to Avoid
Testing too early: Despite some primary care providers expressing willingness to recommend BRCA testing to adolescents (31% would recommend "unconditionally" in one study), this contradicts clinical practice guidelines and provides no medical benefit. 7
Delaying beyond age 25: Conversely, failing to initiate testing and screening at age 25 years may miss early cancers, as BRCA carriers develop breast cancer at younger ages than the general population. 2, 8
Inadequate counseling: Families should receive comprehensive counseling about the rationale for waiting until age 25, the screening options available at that time, and risk-reducing strategies including lifestyle modifications and surgical options. 1, 3