文章：

年轻女性乳腺癌患者中BRCA突变携带者与非携带者长期肿瘤学结果比较：肿瘤与遗传风险因素如何影响临床预后

Comparison of Long-Term Oncological Results in Young Women with Breast Cancer between BRCA-Mutation Carriers Versus Non-Carriers: How Tumor and Genetic Risk Factors Influence the Clinical Prognosis

原文发布日期：19 August 2023

DOI: 10.3390/cancers15164177

类型: Article

开放获取: 是

英文摘要：

Background: Breast cancer (BC) is very uncommon in young women (YW) and it is unclear whether a BRCA mutation has prognostic implications. Our aim was to evaluate the characteristics of YW with BC by comparing the long-term oncological results between BRCA-mutation carriers and non-carriers. Methods: We retrospectively reviewed all the consecutive YW (aged 18–40 years) diagnosed with BC. Endpoints were disease-free survival (DFS), distant disease-free survival (DDFS), and overall survival (OS). Results: 63 YW with a BRCA mutation were compared with 339 YW without BRCA mutation. BRCA-mutation carriers were younger (60.3% versus 34.8% if age ≤ 35 years,p= 0.001) and presented with more aggressive tumors (66.7% versus 40.7% if G3,p= 0.001; 57.2% versus 12.4% if biological subtype triple-negative,p= 0.001; 73.0% versus 39.2% if Ki67 ≥ 25%,p= 0.001). Non-carriers presented significantly better DFS, DDFS, and OS compared with BRCA-mutation carriers. Neoadjuvant chemotherapy was found to be an independent protective factor for OS in BRCA-mutation carriers. Conclusions: BC is more likely to present at a younger age (≤ 35 years) and with more aggressive characteristics (G3, triple-negative, Ki67 ≥ 25%) in YW with BRCA mutation compared with their non-mutated counterparts. Young BRCA-mutation carriers showed a poorer prognosis in terms of recurrence and survival compared with non-carriers. The implementation of neoadjuvant chemotherapy may improve survival in YW with BC and BRCA mutation.

摘要翻译： 

背景：乳腺癌在年轻女性中较为罕见，目前尚不确定BRCA基因突变是否具有预后意义。本研究旨在通过比较携带BRCA突变与非携带者的长期肿瘤学结果，评估年轻乳腺癌患者的临床特征。方法：我们回顾性分析了所有连续就诊的年轻乳腺癌患者（年龄18-40岁）。研究终点包括无病生存期、无远处转移生存期和总生存期。结果：63例携带BRCA突变的年轻乳腺癌患者与339例非携带者进行比较。BRCA突变携带者发病年龄更小（≤35岁者占60.3% vs 34.8%，p=0.001），且肿瘤更具侵袭性（G3级者占66.7% vs 40.7%，p=0.001；三阴性亚型者占57.2% vs 12.4%，p=0.001；Ki67≥25%者占73.0% vs 39.2%，p=0.001）。与非携带者相比，BRCA突变携带者的无病生存期、无远处转移生存期和总生存期均显著较差。研究发现新辅助化疗是BRCA突变携带者总生存期的独立保护因素。结论：与非突变携带者相比，携带BRCA突变的年轻乳腺癌患者更易在较年轻时（≤35岁）发病，且肿瘤更具侵袭性（G3级、三阴性、Ki67≥25%）。年轻BRCA突变携带者在复发和生存方面预后较差。实施新辅助化疗可能改善携带BRCA突变的年轻乳腺癌患者的生存状况。

原文链接：

Comparison of Long-Term Oncological Results in Young Women with Breast Cancer between BRCA-Mutation Carriers Versus Non-Carriers: How Tumor and Genetic Risk Factors Influence the Clinical Prognosis