Association between BRCA Mutation Status, Pathological Findings, and Magnetic Resonance Imaging Features in Patients with Breast Cancer at Risk for the Mutation.
10.4048/jbc.2013.16.3.308
- Author:
Jae Myoung NOH
1
;
Boo Kyung HAN
;
Doo Ho CHOI
;
Sun Jung RHEE
;
Eun Yoon CHO
;
Seung Jae HUH
;
Won PARK
;
Hyojung PARK
;
Seok Jin NAM
;
Jeong Eon LEE
;
Won Ho KIL
Author Information
1. Department of Radiation Oncology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea. doho.choi@samsung.com
- Publication Type:Original Article
- Keywords:
BRCA1 genes;
Breast neoplasms;
Magnetic resonance imaging;
Recurrence
- MeSH:
Breast;
Breast Neoplasms;
Genes, BRCA1;
Genetic Testing;
Humans;
Immunohistochemistry;
Information Systems;
Logistic Models;
Magnetic Resonance Imaging;
Magnetic Resonance Spectroscopy;
Magnetics;
Magnets;
Multivariate Analysis;
Phenotype;
Recurrence;
Risk Factors
- From:Journal of Breast Cancer
2013;16(3):308-314
- CountryRepublic of Korea
- Language:English
-
Abstract:
PURPOSE: We investigated the relationship between BRCA mutations, pathological findings, and magnetic resonance imaging (MRI) features in patients with breast cancer at risk for the mutation. METHODS: Genetic testing for BRCA mutations was performed in 275 breast cancer patients with at least one risk factor for the mutation. Using the breast imaging reporting and data system MR lexicon, morphological and kinetic features were reviewed on MRI scans of 230 tumors in 209 patients. The relationship between BRCA mutations, pathologic findings, and MRI data was examined, and disease recurrence was estimated. RESULTS: BRCA mutations were detected in 48 patients (23.0%), of which 21 (10.0%) were in BRCA1, and 25 (12.0%) in BRCA2. Additionally, two patients (1.0%) had mutations in both genes. Cancers in patients with BRCA1 mutations more frequently showed a higher nuclear grade (p=0.0041), and triple-negative (TN) phenotype (p<0.0001). On MRI scans, the cancers were seen as mass-type in 182 out of 230 lesions (79.1%), and nonmass type in 48 cases (20.9%). Among the features indentified by MRI, rim enhancement was significantly associated with molecular subtypes based on immunohistochemistry (p<0.0001), and nuclear grade (p=0.0387) in multiple logistic regression analysis. Rim enhancement on MRI, along with advanced pathologic N stage, was associated with increased disease recurrence (p=0.0023) based on multivariate analysis. However, the proportion of mass and nonmass tumors, and the distribution of morphological shape, margin, internal enhancement, and kinetic features assessed by MRI were not different according to BRCA mutation status. CONCLUSION: BRCA1 mutations were associated with aggressive pathological characteristics, and the TN phenotype. Rim enhancement was frequently seen on MRI scans of high-grade cancers and in the TN phenotype. And it was a significant predictor of disease recurrence. However, a direct association with BRCA mutations was not observed.
