Efficacy of using imprint and exfoliative cytology followed by frozen section as intraoperative margin assessment in breast conservation surgery

Abstract

the breast cancer (BC) subtypes and the pathological complete response (pCR) rates following neoadjuvant anthracycline/taxane-based chemotherapy in BRCA1/BRCA2/ PALB2-PM BC. Results: 451 women were tested. PM and a VUS were found in 60 (12.7%) and 42 (8.9%) patients, respectively. Among PM cases, 37 (62%) had BC and 23 (38%) had OC. The PMs identified in BC were BRCA2 (35.1%), BRCA1 (21.6%), PALB2 (24.3%), TP53 (8.1%), ATM (5.4%), BRIP1 (2.7%) and PTEN (2.7%). All women with PALB2 PM had BC. Within BRCA2-PM BC, the most common subtype was Luminal B (54%), followed by triple-negative (23%), Luminal A (15%) and HER2-positive (8%). Within cases with BRCA1-PM BC, the most common subtype was triple-negative (88%) followed by Luminal B (12%). Within cases with PALB2-PM BC, the most common subtype was Luminal B (56%), followed triple-negative (33%) and Luminal A (11%). Interestingly, within patients BRCA1/BRCA2/PALB2-PM BC (n ¼ 30), only 1 (3.3%) case had HER2þ BC. Following neoadjuvant chemotherapy, 11 of 17 (58%) cases with BRCA1/BRCA2/PALB2-PM BC achieved a pCR. Within cases with OC, PM identified were BRCA2 (39.1%), BRCA1 (39.1%), TP53 (4.3%), BRIP1 (4.3%), CHEK2 (4.3%), RAD51D (4.3%) and MSH6 (4.3%). Conclusions: Our in-house clinical guidelines detect >10% of tested cases with HBOC. Non-BRCA1/2 PM are found in 35% of the cases. BRCA1/BRCA2/PALB2-PM BC is associated with aggressive tumor biology and high chemotherapy sensitivity.