临床TP53基因测试建议用于35岁或更年轻的HER2-阳性乳腺癌患者

相关实验视频

Updated: Sep 17, 2025

Yeast As a Chassis for Developing Functional Assays to Study Human P53

Yeast As a Chassis for Developing Functional Assays to Study Human P53

Published on: August 4, 2019

Jing Li^1,2,3,4, Lili Chen^1,2,3, Xuhui Chen⁵

¹Department of Breast Surgery, Fujian Medical University Union Hospital, Fuzhou, Fujian Province, China.

NPJ genomic medicine

|July 2, 2025

概括

在中国的早期乳腺癌患者中,TP53致病变体 (PVs) 是罕见的. 优先考虑35岁以下的HER2-阳性患者的TP53遗传测试,可以改善临床管理.

科学领域:

在瘤学瘤学.
遗传学是一个遗传学.
基因组医学是基因组医学.

背景情况:

TP53致病变体 (PVs) 与各种癌症有关,但它们在中国早期乳腺癌 (EOC) 中的作用尚未得到充分研究.
BRCA1/2-阴性EOC患者代表了一个独特的群体,其他遗传因素可能有助于疾病的发展.

研究的目的:

调查中国BRCA1/2-阴性EOC患者TP53PVs的患病率和临床意义.
确定特定的TP53变异及其与临床特征的关联,特别是在年轻的患者和患有HER2阳性疾病的患者中.

主要方法:

一组1492名BRCA1/2-阴性EOC患者接受了TP53基因测试,使用外周血液样本上的下一代测序.
进行了统计分析,以比较TP53变体携带者和非携带者之间的临床特征,包括诊断时的年龄和HER2状态.

主要成果:

在0.47%的队列中确定了TP53PV,报告了新的生殖系变异p.R248P,p.I251F和p.G266R.
携带TP53的携带者在较年轻的年龄被诊断出患有HER2阳性疾病的患病率更高.
在年龄≤35岁的HER2-阳性患者中,TP53PV的患病率显著更高 (2.3%),即使在调整了家族和个人癌症史后 (OR=13.57,p=0.002).

结论:

在中国的BRCA1/2-阴性EOC患者中,TP53 PVs并不常见,但在临床上具有意义.
在35岁以下的HER2阳性EOC患者中,应考虑对TP53进行基因检测,以指导治疗决策.
为了证实这些发现并完善遗传检测策略,需要在不同种群中进行进一步的验证.

更多相关视频

Testing Targeted Therapies in Cancer using Structural DNA Alteration Analysis and Patient-Derived Xenografts

Testing Targeted Therapies in Cancer using Structural DNA Alteration Analysis and Patient-Derived Xenografts

Published on: July 25, 2020

Simple and Rapid Method to Obtain High-quality Tumor DNA from Clinical-pathological Specimens Using Touch Imprint Cytology

Simple and Rapid Method to Obtain High-quality Tumor DNA from Clinical-pathological Specimens Using Touch Imprint Cytology

Published on: March 21, 2018

相关概念视频

Abnormal Proliferation

Abnormal Proliferation

Under normal conditions, most adult cells remain in a non-proliferative state unless stimulated by internal or external factors to replace lost cells. Abnormal cell proliferation is a condition in which the cell's growth exceeds and is uncoordinated with normal cells. In such situations, cell division persists in the same excessive manner even after cessation of the stimuli, leading to persistent tumors. The tumor arises from the damaged cells that replicate to pass the damage to the...

Loss of Tumor Suppressor Gene Functions

Loss of Tumor Suppressor Gene Functions

Tumor suppressor genes are normal genes that can slow down cell division, repair DNA mistakes, or program the cells for apoptosis in case of irreparable damage. Hence, they play an essential role in preventing the proliferation of damaged cells.
When the tumor suppressor genes develop mutations or are lost, cells start growing out of control, leading to cancer. However, a single functional copy of the tumor suppressor gene is enough for the cells to maintain their normal functions and cell...

Cancer-Critical Genes II: Tumor Suppressor Genes

Cancer-Critical Genes II: Tumor Suppressor Genes

Genes usually encode proteins necessary for the proper functioning of a healthy cell. Mutations can often cause changes to the gene expression pattern, thereby altering the phenotype.
When the function of certain critical genes, especially those involved in cell cycle regulation and cell growth signaling cascades, gets disrupted, it upsets the cell cycle progression. Such cells with unchecked cell cycles start proliferating uncontrollably and eventually develop into tumors.
Such genes that act...