Are Mutation Carrier Patients Different from Non-Carrier Patients? Genetic, Pathology, and US Features of Patients with Breast Cancer

Abstract

The purpose of this study is to evaluate the relationship between the pathogenic/likely pathogenic mutations, US features, and histopathologic findings of breast cancer in mutation carriers compared to non-carrier patients. Methods: In this retrospective study, we identified 264 patients with breast cancer and multigene panel testing admitted to our clinic from January 2018 to December 2020. Patient data US findings, US assessment of the axilla, multigene panel tests, histopathology, and immunochemistry reports were reviewed according to the BI-RADS lexicon. Results: The study population was comprised of 40% pathogenic mutation carriers (BRCA1, BRCA2, CHEK2, ATM, PALB, TP 53, NBN, MSH, BRIP 1 genes) and 60% mutation-negative patients. The mean patient age was 43.5 years in the carrier group and 44 years in the negative group. Carrier patients developed breast cancer with benign morphology (acoustic enhancement, soft elastography appearance) compared to non-carriers (p < 0.05). A tendency towards specific US features was observed for each mutation. BRCA1 carriers were associated with BC with microlobulated margins, hyperechoic rim, and soft elastography appearance (p < 0.05). Estrogen receptor (ER)-negative tumors were associated with BRCA1, TP53, and RAD mutations, while BRCA2 and CHEK2 were associated with ER-positive tumors. Conclusions: Patients with pathogenic mutations may exhibit BC with benign US features compared to negative, non-carrier patients. BRCA1, TP53, and RAD carriers account for up to one third of the ER tumors from the carrier group. Axillary US performed worse in depicting involved lymph nodes in carrier patients, compared to negative patients.

Clinicopathological characteristics and BRCA1/BRCA2 pathogenic variants of patients with breast cancer

“…The remaining 10% of breast cancers are hereditary and can be passed on to the next generations [2]. BReast CAncer 1/2 (BRCA1/2) mutation carriers account for 22-30% of hereditary breast can-cer cases [7]. Although the best-known genes that increase susceptibility to breast cancer are BRCA1 and BRCA2, as the genome is further analyzed, associations between other genes and clinicopathological features of breast cancer are revealed.…”

Spectrum of High-Risk Mutations among Breast Cancer Patients Referred for Multigene Panel Testing in a Romanian Population

“…Establishing the presence of pathogenic mutations in breast cancer patients is important both in terms of imaging diagnosis and screening, but also in the therapeutic management and subsequent follow-up of these patients [ 6 ]. At the same time, correct detection of unaffected but genetically exposed family members should be performed, with appropriate prevention and screening protocols for each mutation type.…”