Comparing breast cancer imaging characteristics of CHEK2 with BRCA1 and BRCA2 gene mutation carriers. Issue 146 (January 2022)

• Record Type: Journal Article
• Authors: Ghunaim, Hadeel; Laenen, Annouschka; De Keyzer, Frederik; Soens, Julie; Keupers, Machteld; Postema, Sandra; Neven, Patrick; Van Ongeval, Chantal
• Is Part Of: European journal of radiology. Issue 146(2022)
• Publication Date: 2022-01
• Subjects: Genes, BRCA1 -- Genes, BRCA2 -- CHEK2 protein -- Human -- Mammography -- Magnetic resonance imaging; BRCA breast cancer gene -- GM gene mutation -- CHEK2 checkpoint kinase 2 -- BC breast cancer -- US ultrasound -- MRI magnetic resonance imaging -- HER2 human epidermal growth factor receptor 2 -- ER estrogen receptor -- PR progesterone receptor -- TN triple negative -- DCIS ductal carcinoma in situ -- IDC invasive ductal carcinoma -- ILC invasive lobular carcinoma -- SD standard deviation -- IQR interquartile range -- ANOVA analysis of variance -- MSH2 DNA mismatch repair protein Msh2; Medical radiology -- Periodicals; Radiology -- Periodicals; Radiologie médicale -- Périodiques; Medical radiology; Periodicals; 616.075705
• DOI: 10.1016/j.ejrad.2021.110074
• Languages: English
• ISSNs: 0720-048X

Abstract

Abstract: Purpose: Breast cancer gene ( BRCA ) 1 and 2 mutations are frequently studied gene mutations (GM); the incidence of checkpoint kinase 2 ( CHEK2 ) is increasing. We describe the imaging features of breast cancer (BC) in CHEK2 mutations, compared to BRCA 1 and 2 using mammography, ultrasound (US) and magnetic resonance imaging (MRI). Method: Inclusion criteria were primary BC in GM carriers, treated in the same hospital. Age at diagnosis, histology, hormone receptor and human epidermal growth factor receptor 2 (HER2) status were retrieved. Mammography descriptors were mass, asymmetry and suspicious microcalcifications. The enhancement pattern (MRI), shape and border, architectural distortion, the presence of a hyperechoic rim and cystic complex structure (US) were documented. Analyses were performed using SAS software (version 9.4). Fishers' exact test was used to test associations between two categorical variables. Results: In 191 women, 233 malignant lesions were diagnosed (78 in BRCA1, 109 in BRCA2, 46 in CHEK2 ). In CHEK2 carriers, mammographically, suspicious microcalcifications (54%) were more prevalent ( BRCA2 (48%) and BRCA1 carriers (33%)) (p-value = 0.057) compared to mass lesions (35%). On US, lesions were most frequently ill-defined (86%) (p = 0.579) and irregular (94.5%) (p = 0.098) compared to BRCA2 (77% and 80% resp.) and BRCA1 carriers (71% and 72% resp.). On MRI, mass lesions showed a type 3 curve in CHEK2 (67%) compared to BRCA1 (36%) and BRCA2 (50%) (p = 0.056). Conclusions: Malignant radiological characteristics of breast cancer, more specifically suspicious microcalcifications, were more frequently seen in CHEK2 and BRCA2 compared to BRCA1 mutation carriers (without a significant difference) indicating the importance of mammography in follow-up of CHEK2 carriers.