Somatic mutations in a multigene panel and impact on prognosis based on TP53 status in Chinese HER2-positive patients undergoing neoadjuvant therapy: A single-institution retrospective cohort
These videos have been matched automatically. Contact us if they are not relevant.
These videos have been matched automatically. Contact us if they are not relevant.
View abstract on PubMed
Summary
This summary is machine-generated.Genetic mutations in HER2-positive breast cancer (BC) impact neoadjuvant therapy (NAT) response and prognosis. TP53 mutations are key prognostic indicators, influencing treatment decisions for personalized care.
Area Of Science
- Oncology
- Genetics
- Breast Cancer Research
Background
- Gene mutations are critical in tumor development, especially in breast cancer (BC).
- Neoadjuvant therapy (NAT) shows significant clinical benefit in HER2-positive BC.
- Understanding the link between genetic mutations, NAT efficacy, and long-term outcomes in HER2-positive BC requires further study.
Purpose Of The Study
- To investigate the association between genetic mutations and pathological complete response (pCR) after NAT in HER2-positive BC.
- To evaluate the impact of genetic mutations on disease-free survival (DFS) in this patient cohort.
- To explore the prognostic significance of specific gene mutations in HER2-positive BC treated with NAT.
Main Methods
- Retrospective cohort study of 222 patients with HER2-positive BC treated with NAT (2017-2021).
- Next Generation Sequencing (NGS) of 513 cancer-related genes.
- Analysis of correlations between gene mutations, pCR, and DFS.
Main Results
- 48.65% of patients achieved pCR; ER-negative, PR-negative, high Ki67, and dual-targeted therapy were associated with higher pCR rates.
- TP53 (60%), PIK3CA (15%), and ERBB2 (11%) were the most frequent somatic alterations.
- TP53 mutations were significantly associated with DFS events and had prognostic significance in HER2-positive BC, particularly in HR-negative and pCR subgroups, and with herceptin-only therapy.
Conclusions
- Genetic mutation profiles in Chinese HER2-positive patients receiving NAT vary based on HR status and DFS events.
- TP53 mutations are significant prognostic markers for NAT in HER2-positive BC.
- Treatment customization based on individual genetic and clinical characteristics is crucial for optimizing patient outcomes.
These videos have been matched automatically. Contact us if they are not relevant.
These videos have been matched automatically. Contact us if they are not relevant.
Related Concept Videos
The targeted cancer therapies, also known as “molecular targeted therapies,” take advantage of the molecular and genetic differences between the cancer cells and the normal cells. It needs a thorough understanding of the cancer cells to develop drugs that can target specific molecular aspects that drive the growth, progression, and spread of cancer cells without affecting the growth and survival of other normal cells in the body.
There are several types of targeted therapies against...
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...
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...