At what age should children of patients with BRCA (Breast Cancer Gene) 1 and BRCA 2 positive breast cancers be offered genetic testing and screening?

Genetic Testing for Children of BRCA1/2-Positive Patients

Genetic testing for BRCA1/2 mutations should generally be deferred until children reach adulthood, typically age 25 years, when medical management becomes actionable, though legal adulthood (age 18) may be considered based on patient preference and family history. 1

Age Recommendations for Genetic Testing

Standard Testing Age

• Testing is recommended only in adult relatives (except for TP53 mutations), with age 25 being the threshold for medical actionability 1
• Legal adulthood (age 18 in most countries) represents an alternative starting point, though medical interventions typically begin at age 25 1
• Genetic counseling should be provided before testing to discuss benefits, risks, and implications for the patient and family 2

Rationale for Delaying Testing Until Adulthood

The age 25 threshold aligns with when screening and risk-reduction strategies become medically relevant, as breast cancer surveillance protocols begin at age 25 for BRCA carriers 1. Testing children earlier provides no medical benefit since no interventions are recommended before this age.

Exceptions and Special Considerations

• Timing may be tailored based on family history, particularly if breast cancer occurred before age 30 in the family 1
• Pregestational testing (PGT) considerations may influence timing if the individual is planning pregnancies 1
• The topic of testing age in minors is evolving, and current guidelines emphasize this is an area of ongoing discussion 1

Screening Recommendations Once Mutation Status is Confirmed

For BRCA1/2-Positive Individuals (Ages 25-29)

• Breast awareness training and monthly self-examination starting at age 18 1
• Clinical breast examination every 6-12 months beginning at age 25 1
• Annual breast MRI with contrast (preferred) starting at age 25-29 1
• Mammography only if MRI is unavailable during this age range 1

For BRCA1/2-Positive Individuals (Ages 30-75)

• Annual mammogram AND breast MRI with contrast 1
• Clinical breast examination every 6-12 months continues 1
• For BRCA1 carriers specifically, 6-monthly screening intervals are recommended due to faster tumor growth rates 1

Important Screening Nuances

The 2023 ESMO guidelines emphasize that BRCA1 carriers may benefit from 6-monthly MRI screening due to the characteristically rapid growth rates of BRCA1-associated breast cancers, which shortens the window for early detection 1. However, when 6-monthly MRI is unavailable, annual MRI may be supplemented with ultrasound or mammography between MRI sessions 1.

Pre-Testing Counseling Requirements

Essential Counseling Components

• Psychosocial assessment and support 1
• Risk counseling and education about hereditary cancer syndromes 1
• Discussion of genetic testing implications and informed consent 1, 2
• Explanation of possible test results: positive, negative, or variant of uncertain significance 1
• Discussion of implications for family members and cascade testing 1, 2

Family Communication

• Individuals should be encouraged to advise at-risk relatives about genetic counseling options 1
• Strategies that improve familial testing, including allowing direct communication by the medical team, should be pursued 1

Common Pitfalls to Avoid

Testing Too Early

Testing children before age 18-25 provides no medical benefit and raises ethical concerns about autonomy and psychological impact, as no medical interventions are indicated before this age 1.

Inadequate Counseling

Genetic testing without proper pre-test counseling can lead to misunderstanding of results, particularly with variants of uncertain significance, which should not be used for clinical decision-making 1, 2.

Missing Family History Details

Screening should begin 5 years before the youngest affected family member, or at age 30 at the latest 1. Failing to obtain detailed family history may result in delayed screening for high-risk individuals.

Suboptimal Screening Modality

Using mammography alone in young BRCA carriers (ages 25-29) is inadequate, as MRI demonstrates significantly higher sensitivity (77-94%) compared to mammography (33-59%) in this population 1. Breast density and aggressive tumor biology in young women further limit mammographic sensitivity 1.