乳腺癌（BC）是还未绝经的妇女中最常见的癌症类型，其有遗传性TP53致病性变异（mTP53）（Li-Fraumeni综合征-LFS）。 然而，对这些患者的BC预后了解甚少。 该研究分析了LFS患者的BC相关肿瘤结果。我们评估了LFS患者与没有遗传癌症基因检查致病性变异的BC患者对照组的COHORT。 主要终点是无复发生存期（RFS）。 由于LFS患者发生第二恶性肿瘤的风险，因此仅考虑局部区域和远处复发作为RFS事件。 次要终点包括逆侧BC率，总生存期（OS）和乳腺癌特异性生存期（BCSS）。评估了41名mTP53组患者和82名对照组患者。 分别为40和41岁的中位数BC诊断年龄。 与对照组相比，mTP53组接受的辅助放疗较少（63.4％VS 93.9％，P＜0.001）。 其他相关基线特征和治疗接受的方式相似。 5年RFS率分别为mTP53组的79.4％和对照组的93.6％（HR 2.43，95％CI 0.74-8.01，P = 0.143）；并且不受辅助放疗的影响。5年BCSS率分别为92.2％和98.6％（HR 1.87，IC95％ 0.25-13.48，P = 0.534）。我们的结果表明，在具有mTP53和没有致病性变异的对照组之间，BC相关的RFS和BCSS无统计学差异。 需要更大的多中心研究来确认这些结果。版权所有©2023作者。由Elsevier Ltd发表。保留所有权利。

Breast cancer (BC) is the most common type of cancer in premenopausal women with germline TP53 pathogenic variants (mTP53) (Li Fraumeni syndrome - LFS). However, little is known about the BC prognosis in these patients. This study analyzed the BC-related oncologic outcomes of patients with LFS.We evaluated a cohort of LFS patients with BC in comparison with a control cohort of BC patients with no pathogenic variant in a hereditary cancer panel. The primary endpoint was recurrence-free survival (RFS). Due to the risk of second malignancies in LFS, only locoregional and distant recurrences were considered events for RFS. Secondary endpoints included rates of contralateral BC, overall survival (OS), and breast cancer-specific survival (BCSS).Forty-one patients were evaluated in the mTP53 group and 82 in the control group. Median age at BC diagnosis was 40 and 41 years, respectively. The mTP53 group received less adjuvant radiotherapy than the control group (63.4% vs 93.9%, P < 0.001). Other relevant baseline characteristics and treatment received were similar between groups. 5y-RFS rates were 79.4% in the mTP53 versus 93.6% in the control group (HR 2.43, 95%CI 0.74-8.01, P = 0.143); and were not impacted by the use of adjuvant radiotherapy. 5y-BCSS rates were 92.2% and 98.6%, respectively (HR 1.87, IC95% 0.25-13.48, P = 0.534).Our results showed no statistically significant difference in BC-related RFS and BCSS between patients with mTP53 and a control group with no pathogenic variant. Larger multicentric studies are warranted to confirm these results.Copyright © 2023 The Authors. Published by Elsevier Ltd.. All rights reserved.