老年患者乳腺癌的基因组景观
Pier Selenica1, Higinio Dopeso1, Matteo Repetto1,2
1Department of Pathology and Laboratory Medicine, Memorial Sloan Kettering Cancer Center, New York, NY, USA.
NPJ breast cancer
|July 10, 2025
概括
老年乳腺癌 (BC) 患者表现出明显的基因变异,特别是在DNA损伤反应途径中. 基因组分析对老年人个性化治疗至关重要.
科学领域:
- 在瘤学瘤学.
- 遗传学 遗传学 是一个
- 老年医学 老年医学
背景情况:
- 乳腺癌 (BC) 呈现出与年龄相关的异质性.
- 老年人和年轻患者之间的BC遗传差异尚不清楚.
研究的目的:
- 为了研究乳腺癌的遗传差异,与年轻人队伍相比,老年患者的乳腺癌.
- 识别与年龄相关的可操作的基因变异和治疗耐药性机制.
主要方法:
- 1918年乳腺癌病例的测序数据的重新分析.
- 患者分为老年人 (≥65岁),中年人 (>45岁和<65岁) 和年轻人 (≥45岁) 的分层.
- 采用FDA批准的结合瘤与正常向测序试验.
主要成果:
- 老年患者的生殖线变化较少,但体内同源复合缺陷 (HRD) /DNA损伤反应 (DDR) 变化较多.
- 在老年人中,初级ER+/HER2-BC显示了改变的PI3K/AKT变化.
- 老年人的转移性BC增加了FAT1,RB1突变,ESR1突变减少,表明耐药性.
结论:
- 老年患者的乳腺癌具有独特的可操作的遗传特征.
- 基因组分析和个性化治疗对于优化老年BC患者的护理至关重要.
更多相关视频
08:15gDNA Enrichment by a Transposase-based Technology for NGS Analysis of the Whole Sequence of BRCA1, BRCA2, and 9 Genes Involved in DNA Damage Repair
Published on: October 6, 2014
12.4K
11:12Optimization of a Multiplex RNA-based Expression Assay Using Breast Cancer Archival Material
Published on: August 1, 2018
8.1K
相关概念视频
Cancer-Critical Genes II: Tumor Suppressor Genes
8.1K
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...
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...
8.1K
Cancer Survival Analysis
457
Cancer survival analysis focuses on quantifying and interpreting the time from a key starting point, such as diagnosis or the initiation of treatment, to a specific endpoint, such as remission or death. This analysis provides critical insights into treatment effectiveness and factors that influence patient outcomes, helping to shape clinical decisions and guide prognostic evaluations. A cornerstone of oncology research, survival analysis tackles the challenges of skewed, non-normally...
457
Cancers Originate from Somatic Mutations in a Single Cell
13.0K
Cancer arises from mutations in the critical genes that allow healthy cells to escape cell cycle regulation and acquire the ability to proliferate indefinitely. Though originating from a single mutation event in one of the originator cells, cancer progresses when the mutant cell lines continue to gain more and more mutations, and finally, become malignant. For example, chronic myelogenous leukemia (CML) develops initially as a non-lethal increase in white blood cells, which progressively...
13.0K
Tumor Progression
6.5K
Tumor progression is a phenomenon where the pre-formed tumor acquires successive mutations to become clinically more aggressive and malignant. In the 1950s, Foulds first described the stepwise progression of cancer cells through successive stages.
Colon cancer is one of the best-documented examples of tumor progression. Early mutation in the APC gene in colon cells causes a small growth on the colon wall called a polyp. With time, this polyp grows into a benign, pre-cancerous tumor. Further...
Colon cancer is one of the best-documented examples of tumor progression. Early mutation in the APC gene in colon cells causes a small growth on the colon wall called a polyp. With time, this polyp grows into a benign, pre-cancerous tumor. Further...
6.5K
