Affiliations: [a] Department of Breast Surgical Oncology, St. Luke’s International Hospital, Tokyo, Japan | [b] Department of Radiology, St. Luke’s International Hospital, Tokyo, Japan | [c] Department of Clinical Genetics, St. Luke’s International Hospital, Tokyo, Japan | [d] Department of Pathology, St. Luke’s International Hospital, Tokyo, Japan
Correspondence:
[*]
Corresponding author: Akina Seki, Department of Breast Surgical Oncology, St. Luke’s International Hospital, 9-1 Akashi-cho, Chuo-ku, Tokyo 104-8560, Japan. E-mail: [email protected]. ORCID: http://orcid.org/0000-0002-3493-5731
Abstract: BACKGROUND:BRCA1/2-associated invasive breast cancer has been extensively studied. However, there are few reports of ductal carcinoma in situ (DCIS). OBJECTIVE:This study aimed to investigate the clinicopathological and imaging findings of DCIS in patients with BRCA1/2 mutations. METHODS:This was a single-institution, retrospective study. We identified patients diagnosed with DCIS with BRCA mutations between September 2003 and December 2020. Clinicopathological data and mammography (MG), magnetic resonance imaging (MRI), and ultrasound (US) findings were reviewed. RESULTS:We identified 30 cancers in 28 patients; 7 (25.0%) patients had BRCA1 mutations, and 21 (75.0%) had BRCA2 mutations. The median patient age was 42 years. Screening was the most common reason for the detection of DCIS (50.0%), followed by occult cancer diagnosed by pathological examination after risk-reducing mastectomy (26.7%). The nuclear grade was most often 1 (46.7%), and 93.3% were estrogen and/or progesterone receptor positive. The detection rates of MG, MRI, and US were 64.3%, 72.0%, and 64.0%, respectively. The most common imaging findings were calcification (100%) on MG, non-mass enhancement (88.9%) on MRI, and hypoechoic area (75.0%) on US. CONCLUSION:BRCA-associated DCIS was more strongly associated with BRCA2, and imaging features were similar to those of sporadic DCIS. Our results are helpful in informing surveillance strategies based on genotypes in women with BRCA mutations.
Keywords: BRCA, ductal carcinoma in situ, HBOC, US, MRI, mammography
