What symptoms should a BRCA2 (Breast Cancer Gene 2) carrier look out for to detect melanoma?

Melanoma Symptoms to Monitor for BRCA2 Carriers

BRCA2 carriers should conduct monthly skin self-examinations and receive annual skin and eye examinations by a healthcare provider to screen for melanoma. 1

Melanoma Risk in BRCA2 Carriers

• Studies investigating the association between BRCA2 mutations and melanoma have shown inconsistent results, though there is some evidence of an increased risk 1
• The cumulative risk of melanoma from age 20 to 80 years is approximately 2.3% for BRCA2 carriers, compared to 1.5% in the general population 2
• BRCA2 carriers have a higher risk of skin cancer compared to BRCA1 carriers (3.0% vs 1.6%), with a particularly elevated risk for basal cell carcinoma 3

Key Symptoms to Monitor

ABCDEs of Melanoma

• Asymmetry: One half of the mole doesn't match the other half 1
• Border irregularity: Edges are ragged, notched, or blurred 1
• Color variation: Different shades of brown, black, or tan; areas of red, white, or blue 1
• Diameter: Larger than 6mm (pencil eraser size), though melanomas can be smaller 1
• Evolving: Changes in size, shape, color, or elevation; new symptoms such as bleeding, itching, or crusting 1

Specific Areas to Examine

• Pay special attention to feet, shoulders, legs, and genital areas, which are often overlooked during self-examinations 4
• For BRCA2 carriers, thorough examination of the eyes is also recommended due to increased risk of ocular melanoma 1

Recommended Screening Protocol

Self-Examination

• Perform monthly thorough skin self-examinations 1
• Use mirrors or ask a partner to help examine hard-to-see areas 5
• Document any suspicious lesions with photographs to track changes over time 1

Professional Screening

• Annual full-body skin examination by a dermatologist or primary care provider 1
• Annual eye examination to screen for ocular melanoma 1
• Consider more frequent examinations if there is a personal or family history of melanoma 1

Risk Reduction Strategies

• Minimize ultraviolet exposure by avoiding tanning beds and limiting sun exposure during peak hours (10 AM to 4 PM) 1, 2
• Use broad-spectrum sunscreen with SPF 30 or higher daily 2
• Wear protective clothing, wide-brimmed hats, and sunglasses when outdoors 2

Common Pitfalls to Avoid

• Neglecting less visible body areas during self-examination (scalp, back, between toes, soles of feet, genital areas) 4, 5
• Assuming that melanomas always follow the typical ABCDE pattern - some may be amelanotic (lacking pigment) 1
• Discontinuing regular screening if previous examinations were normal 4
• Focusing only on melanoma risk while ignoring the higher risk of basal cell carcinoma in BRCA2 carriers 3

While the absolute risk of melanoma in BRCA2 carriers is relatively low, regular screening is important for early detection, which significantly improves outcomes in terms of morbidity and mortality 2, 4.