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.
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