Frequency of somatic and germline variants of predisposition genes in young Chinese women with breast cancer.

IF 3 3区医学 Q2 ONCOLOGY

Breast Cancer Research and Treatment Pub Date : 2025-01-05 DOI:10.1007/s10549-024-07602-5

Yuchun Xu, Qindong Cai, Jing Li, Wenhui Guo, Lili Chen, Minyan Chen, Yuxiang Lin, Yali Wang, Weifeng Cai, Yibin Qiu, Peng He, Shunyi Liu, Chuan Wang, Fangmeng Fu

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引用次数: 0

Abstract

Purpose: 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).

Methods: 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).

Results: 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.

Conclusion: 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.

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中国年轻女性乳腺癌易感基因的体细胞和种系变异频率。

目的：年龄分层会影响乳腺癌的临床病理特征和生存结果。与癌症基因组图谱（TCGA）中的数据相比，我们旨在了解年龄对中国年轻女性乳腺癌患者基因变异的影响：方法：福建协和医院对年龄小于 40 岁的入组患者（N = 370）进行了种系或体细胞基因检测，使用的是 32 个遗传性癌症基因组。分析了种系和体细胞基因的重要改变。比较了入组患者和TCGA中的患者体细胞变异的频率，TCGA中的患者分为两组（≤40岁和>40岁）：在入组患者（中位年龄 36 岁；范围 25-40 岁）中，335 人接受了种系基因检测，174 人同时接受了体细胞基因检测。我们在 42 名患者（12.5%）中检测到 44 个种系致病/可能致病变异，其中 BRCA1/2 是最常见的基因（29.8.5%）。一级亲属的家族史与致病变异有显著相关性（TCGA 的 p 40（N = 975））。在其他乳腺癌亚型中未观察到明显差异：这些结果提供了中国年轻女性基因组改变的范围，并强调了亚洲年轻乳腺癌患者与西方乳腺癌患者基因变异频率的不同。进一步的研究应探索其生物学机制，为年轻的亚洲女性提供更多的治疗策略。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Breast Cancer Research and Treatment 医学-肿瘤学

CiteScore

6.80

自引率

2.60%

发文量

342

审稿时长

1 months

期刊介绍： Breast Cancer Research and Treatment provides the surgeon, radiotherapist, medical oncologist, endocrinologist, epidemiologist, immunologist or cell biologist investigating problems in breast cancer a single forum for communication. The journal creates a "market place" for breast cancer topics which cuts across all the usual lines of disciplines, providing a site for presenting pertinent investigations, and for discussing critical questions relevant to the entire field. It seeks to develop a new focus and new perspectives for all those concerned with breast cancer.