Xu Yuchun, Cai Qindong, Li Jing, Guo Wenhui, Chen Lili, Chen Minyan, Lin Yuxiang, Wang Yali, Cai Weifeng, Qiu Yibin, He Peng, Liu Shunyi, Wang Chuan, Fu Fangmeng
Department of Thyroid and Breast Surgery, Affiliated Nanping First Hospital of Fujian Medical University, Nanping, 353000, Fujian, China.
Department of Breast Surgery, Fujian Medical University Union Hospital, Fuzhou, 350001, Fujian , China.
Breast Cancer Res Treat. 2025 Apr;210(3):635-644. doi: 10.1007/s10549-024-07602-5. Epub 2025 Jan 5.
Age stratification influences the clinicopathological features and survival outcomes of breast cancer. We aimed to understand the effect of age on gene variants in young Chinese women with breast cancer compared with those from The Cancer Genome Atlas (TCGA).
Enrolled patients ≤ 40 years old (N = 370) underwent germline or somatic genetic testing using a 32-gene hereditary cancer panel at Fujian Union Hospital. Significant alterations of germline and somatic genes were analyzed. The frequency of somatic variants was compared between enrolled patients and patients from TCGA who were divided into two groups (≤ 40 years and > 40 years).
Among the enrolled patients (median age 36; range 25-40), 335 underwent germline genetic testing and 174 underwent simultaneous somatic genetic testing. We detected 44 germline pathogenic/likely pathogenic variants in 42 (12.5%) patients, where BRCA1/2 was the most common gene (29.8.5%). Family history of first-degree relatives was significantly associated with pathogenic variants (p < 0.001). Somatic Tier I/II mutation frequency was like that of patients ≤ 40 from TCGA (N = 97). More PIK3CA and TP53 mutations in luminal A and basal-like tumors, respectively, were detected in young patients than in patients > 40 from TCGA (N = 975). No significant differences were observed in other breast cancer subtypes.
These results provide a spectrum of genomic alterations in young Chinese women and highlight different frequencies of gene variants in young Asian patients versus Western patients with breast cancer. Further research should explore the biological mechanism to provide more treatment strategies for young Asian women.
年龄分层会影响乳腺癌的临床病理特征和生存结果。我们旨在了解与来自癌症基因组图谱（TCGA）的患者相比，年龄对中国年轻乳腺癌女性基因变异的影响。
福建协和医院对年龄≤40岁（N = 370）的入组患者使用32基因遗传性癌症检测板进行种系或体细胞基因检测。分析种系和体细胞基因的显著改变。比较入组患者与TCGA中分为两组（≤40岁和>40岁）的患者的体细胞变异频率。
在入组患者中（中位年龄36岁；范围25 - 40岁），335例进行了种系基因检测，174例同时进行了体细胞基因检测。我们在42例（12.5%）患者中检测到44种种系致病性/可能致病性变异，其中BRCA1/2是最常见的基因（29.8%）。一级亲属家族史与致病性变异显著相关（p < 0.001）。体细胞I/II级突变频率与TCGA中≤40岁的患者（N = 97）相似。与TCGA中>40岁的患者（N = 975）相比，年轻患者的管腔A型和基底样肿瘤中分别检测到更多的PIK3CA和TP53突变。在其他乳腺癌亚型中未观察到显著差异。
这些结果提供了中国年轻女性基因组改变的情况，并突出了年轻亚洲乳腺癌患者与西方患者基因变异频率的差异。进一步的研究应探索其生物学机制，为年轻亚洲女性提供更多的治疗策略。
