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Abstract
A proportion of up to 10% of breast cancer resulted from hereditary germline pathogenic variants (GPVs) in cancer predisposition genes (CPGs), which been demonstrated distinct clinical features and imaging manifestations. However, the performance of imaging modalities for breast cancer surveillance in CPG mutation-carriers is still unclear, especially in Asian women. A population of 3002 breast cancer patients who received germline genetic testing of CPGs was enrolled from three hospitals in China. In total, 343 (11.6%) patients were found to harbor GPVs in CPGs, including 137 (4.6%) in BRCA1 and 135 (4.6%) in BRCA2. We compared the performances of ultrasound, mammograms, MRI, and the combining strategies in CPG mutation carriers and non-carriers. As a result, the ultrasound showed a higher detection rate compared with mammograms regardless of the mutation status. However, its detection rate was lower in CPG mutation carriers than in non-carriers (93.2% vs 98.0%, P=2.1×10-4), especially in the BRCA1 mutation carriers (90.9% vs 98.0%, P=2.0×10-4). MRI presented the highest sensitivity (98.5%) and the lowest underestimation rate (14.5%) in CPG mutation carriers among ultrasound, mammograms, and their combination. Supplemental ultrasound or mammograms would add no significant value to MRI for detecting breast cancer (P>0.05). In multivariate logistic regression analysis, the family or personal cancer history could not replace the mutation status as the impact factor for the false-negative result and underestimation. In summary, clinicians and radiologists should be aware of the atypical imaging presentation of breast cancer in patients with GPVs in CPGs.
Highlights
Breast cancer is currently the most common cancer among women both in the West and East [1, 2]
A higher proportion of invasive ductal carcinoma was identified in patients with Germline pathogenic variant (GPV) in BRCA1/2 (94.9% and 86.7% in BRCA1 and BRCA2 mutationcarriers vs. 77.9% in non-carriers, p=1.3×10-7 and 0.02), while less ductal carcinoma in situ (DCIS) was found in patients with GPVs in BRCA1 (0% in BRCA1 mutation-carriers vs. 5.5% in non-carriers, p=1.1×10-3)
We investigated the performance of imaging modalities in patients with mutations in non-BRCA1/2 cancer predisposition genes which affected no less than 5 patients
Summary
Breast cancer is currently the most common cancer among women both in the West and East [1, 2]. Special breast cancer screening and diagnosis guidelines with higher sensitivity have been applied in the CPG mutation-carriers in the US and UK [7, 8]. The dynamic contrastenhanced breast magnetic resonance imaging (MRI) has demonstrated the highest sensitivity in BRCA1/2 mutationcarriers [10, 11]. Considering the high cost and high false-positive rate of the MRI, ultrasonography is widely used as a supplemental screening modality in Asian countries [13]. It has significantly increased the detection rate and screening sensitivity [14]. The clinical utility of ultrasound for detecting breast cancer in CPG mutation-carriers remains unclear [16]
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