Abstract
BackgroundThere is no consensus on the appropriate surveillance for high-risk women with breast cancer in Japan. We investigated their imaging features and pathological characteristics to build a proper surveillance system for asymptomatic high-risk individuals in the future.MethodsWe retrospectively reviewed 93 female (median age 43 years) BRCA1 and BRCA2 mutation carriers from our institutional clinical database from 2011 to 2017. The study population was composed of 112 breast cancers. Mammography and MRI were reviewed by examiners blinded to patients’ clinical history. Final surgical or biopsy histopathology served as the reference standard in all the patients.ResultsFifty-nine breast cancers met selection criteria; of these, 30 were BRCA1-associated tumors, and 29 were BRCA2-associated tumors. Invasive ductal carcinoma was the most prevalent type in both BRCA1 and BRCA2. There were statistically significant differences in phenotype, nuclear grade, and Ki-67 labeling index between BRCA1 and BRCA2 mutation carriers. Additionally, imaging findings on mammography and MRI were statistically different. Tumors in BRCA2 carriers demonstrated mammographic calcifications more frequently, while those in BRCA1 carriers demonstrated a mass or architectural distortion (P < 0.001). Enhancement pattern on MRI also significantly differed between the two subgroups (P = 0.006). The size of MRI-detected lesions was statistically smaller than the size of those detected by other modalities (P = 0.004).ConclusionsThe imaging and histological characteristics of BRCA1/2 mutation carriers were consistent with other countries’ studies. MRI-detected lesions were significantly smaller than lesions detected by non-MRI modality. All lesions in BRCA1 mutation carriers could be detected by MRI.
Highlights
In Japan, women of average risk for breast cancer are advised to undergo mammography every 2 years beginning at age 40 years
The tumors which had been imaged by both mammography and MR were divided into 30 breast cancers in BRCA1 mutation carriers and 29 breast cancers in BRCA2 mutation carriers
While ductal carcinoma in situ (DCIS) was not detected in BRCA1 carriers, the histology of specimens from BRCA2 mutation carriers frequently contained DCIS
Summary
In Japan, women of average risk for breast cancer are advised to undergo mammography every 2 years beginning at age 40 years. A number of countries other than Japan have previously conducted studies that demonstrated differences in histopathology and imaging characteristics between breast cancers associated with BRCA1 and BRCA2 mutations [2, 3]. The Guidebook for Diagnosis and Treatment of Hereditary Breast and Ovarian Cancer Syndrome 2017, an initiative spearheaded by Japan’s Ministry of Health, Labor, and Welfare, recommends annual contrastenhanced MRI examination for women aged ≥ 25 years who have a BRCA mutation, currently, this screening study is not covered by the national health insurance program. There is no consensus on the appropriate surveillance for high-risk women with breast cancer in Japan. All lesions in BRCA1 mutation carriers could be detected by MRI
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