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Eur J Radiol. 2021 Nov 26;146:110074. doi: 10.1016/j.ejrad.2021.110074. Epub 2021 Nov 26.

Comparing breast cancer imaging characteristics of CHEK2 with BRCA1 and BRCA2 gene mutation carriers.

European journal of radiology

Hadeel Ghunaim, Annouschka Laenen, Frederik De Keyzer, Julie Soens, Machteld Keupers, Sandra Postema, Patrick Neven, Chantal Van Ongeval

Affiliations

  1. Dept of Radiology, Faculty of Medicine, Taibah University, Madina, Saudi Arabia. Electronic address: [email protected].
  2. Dept of Biostatistics and Statistical Bioinformatics, KU Leuven, Kapucijnenvoer 35 blok d - box 7001, BE-3000 Leuven, Belgium. Electronic address: [email protected].
  3. Dept of Radiology, University Hospitals Leuven, Herestraat 49, BE-3000 Leuven, Belgium. Electronic address: [email protected].
  4. Dept of Radiology, University Hospitals Leuven, Herestraat 49, BE-3000 Leuven, Belgium. Electronic address: [email protected].
  5. Dept of Radiology, University Hospitals Leuven, Herestraat 49, BE-3000 Leuven, Belgium. Electronic address: [email protected].
  6. Dept of Radiology, University Hospitals Leuven, Herestraat 49, BE-3000 Leuven, Belgium. Electronic address: [email protected].
  7. Dept of Gynecology and Obstetrics, University Hospitals Leuven, Herestraat 49, BE-3000 Leuven, Belgium. Electronic address: [email protected].
  8. Dept of Radiology, University Hospitals Leuven, Herestraat 49, BE-3000 Leuven, Belgium. Electronic address: [email protected].

PMID: 34902667 DOI: 10.1016/j.ejrad.2021.110074

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.

Copyright © 2021 Elsevier B.V. All rights reserved.

Keywords: CHEK2 protein; Genes, BRCA1; Genes, BRCA2; Human; Magnetic resonance imaging; Mammography

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