The clinicopathological and MRI features of patients with BRCA1/2 mutations in familial breast cancer

Abstract

Background: To determine the histopathological and MRI features of BRCA1/2 mutation-associated familial breast cancers compared with those of BRCA1/2 mutation-negative and sporadic breast cancers and to further compare the imaging features of cancers from BRCA1 and BRCA2 mutation carriers according to lesion type on MRI.Methods: A retrospective review of medical records was conducted to determine tumour clinicopathologic features and MRI characteristics between June 2011 and July 2017, and 93 lesions with BRCA mutations, 93 lesions without BRCA mutations from familial breast cancers and 93 lesions from sporadic breast cancers were included. Histopathologic data, including immunohistochemistry findings and MRI data according to the BI-RADS lexicon, were reviewed. The association between MRI or histopathologic findings and BRCA mutations was analysed.Results: BRCA-positive familial breast cancers had a higher number of IDCs with high nuclear grade and lymph node metastasis (all P<0.05), while the BRCA-negative group had a significantly lower Ki-67 index (P<0.001). BPE on MRI was found to be significantly lower for BRCA mutations of familial breast cancer (P=0.024). BRCA1 carriers tended to exhibit the triple-negative phenotype with a more benign shape and margin (P=0.006 and 0.019), whereas BRCA2 mutations were associated with the luminal phenotype and more malignant features.Conclusions: BRCA mutation carriers had a significantly higher number of IDCs with more aggressive cancer, and BRCA-negative cancers had low proliferation levels. Background features on MRI may help to identify BRCA status, while tumour characteristics can differentiate the BRCA1/2 mutation status, consistent with the differences in their clinicopathologic features.

A nomogram model combining ultrasound-based radiomics features and clinicopathological factors to identify germline BRCA1/2 mutation in invasive breast cancer patients

“…Traditional imaging characteristics were found to have limited association with BRCA1/2 mutation status in breast cancer patients. Some studies reported that BRCA1/2-mutated patients were prone to have lower levels of breast parenchymal enhancement in MRI [ 28 , 29 ], while different opinions existed that no significant differences were shown in either morphological or kinetic features between MRI data of BRCA1/2 carriers and non-carriers [ 30 ]. For breast US images, multiple studies demonstrated no significant differences in tumor size, orientation, shape, margin, echo pattern, and posterior features according to BRCA1/2 status, whether in TNBC patients or unselected breast cancer patients [ [31] , [32] , [33] ].…”

“…Another interesting finding is that Ki-67 level was firstly described as an independent predictor of BRCA1/2 mutation (OR 4.609, p = 0.015) in breast cancer patients in this study. Although Ki-67 was not mentioned in the NCCN criteria [ 12 ] and often neglected in BRCA1/2-related studies, higher Ki-67 levels in BRCA1/2-mutated breast cancer patients have been reported in multiple studies [ 29 , [44] , [45] , [46] ].…”

Molybdenum target X-ray examination and multimodality MRI in the diagnosis of breast cancer

“…The detection rate of microcalcifications in breast tissue is generally low, and the dense breast tissue commonly found in Chinese women can potentially obscure the location of the lesion, leading to false negatives. Moreover, small lesions in particular individuals or locations can be challenging to identify accurately [23,24]. Therefore, while X-ray examinations have diagnostic value, their overall accuracy is relatively poor.…”

Four magnetic resonance imaging surveillance-detected breast cancer cases in cancer-free BRCA1/2 mutation carriers

“…Breast MRI with contrast has been reported to show a round or oval mass on the chest wall side in BRCA1 -associated breast cancer [ 10 ] and non-mass enhancement in BRCA2 -associated breast cancer [ 7 ]. In addition, MMG has been reported to show calcification only in BRCA2 -associated breast cancer [ 7 ].…”