Breakthrough Study Reveals Genetic Markers of Resistance in Metastatic Breast Cancer Patients
By [Professional Journalist’s Name]
Researchers at Samsung Seoul Hospital and Seoul National University Hospital have made a significant breakthrough in understanding the genetic characteristics of metastatic breast cancer patients who develop resistance to treatment. Led by Professor Park Yeon-hee, Professor Lim Seok-ah, and their team, the study utilized genome analysis to identify key biomarkers associated with treatment resistance. The findings were recently published in the prestigious journal ‘Genome Medicine’.
Using next-generation sequencing (NGS) analysis, the research team examined tumor tissues from 89 patients who underwent treatment between 2017 and 2020. These patients received fulvestrant and aromatase inhibitors, along with palbociclib, for their metastatic breast cancer. By comparing the progression of disease with the extent of progression-free survival (PFS), the researchers aimed to pinpoint the main cause of treatment resistance.
The study involved analyzing tumor tissue and blood samples obtained before, during, and after treatment at disease progression. Through RNA sequencing and whole-exome sequencing (WES), the researchers discovered molecular alterations that differed from those seen prior to treatment in patients with HR+/HER2 breast cancer.
Of particular interest, the study identified homologous recombination deficiency (HRD) and genomic scarring resulting from estrogen response as important biomarkers for assessing patient prognosis. Mutations in the TP53 gene were found to be associated with high tumor growth inhibition and resistance to anticancer drugs, significantly worsening the patients’ prognosis.
Moreover, compared to patients without mutations, those with genetic modifications in RB1, ESR1, PTEN, and KMT2C – mediated by the APOBEC enzyme involved in gene mutation – were 16.3 times more likely to experience disease progression. This highlights the critical role genes play in the development of metastatic breast cancer.
Expressing their optimism about the study’s implications, the research team emphasized the importance of their findings for metastatic breast cancer patients who require CDK4/6 inhibitors. Without any reliable indicators to differentiate patients who can overcome treatment resistance, this breakthrough offers hope for targeted therapy and the reduction of patient anxiety. The team intends to pursue further research to develop a new strategy based on the identified resistance-causing gene.
About the Research Team
- Professor Park Yeon-hee: Hematology Oncology Professor at Samsung Seoul Hospital
- Professor Lim Seok-ah: Hematology Oncology Professor at Seoul National University Hospital
Disclaimer:
This article has been written by a professional journalist for informational purposes only. The research findings and statements discussed in this article belong solely to the named researchers and institutions. Please consult with a healthcare professional for personalized medical advice.
Samsung Seoul Hospital Hematology Oncology Professor Park Yeon-hee, Samsung Genome Research Center Researcher Park Kyung-hee, Seoul National University Hospital Hematology Oncology Professor Lim Seok-ah and Lee Kyung-hoon, and Pfizer Zhengyan Kan It was announced on the 16th that the revealed characteristics of patients with resistance through genome analysis and published in the latest issue of ‘Genome Medicine (IF=15.266)’.
The research team analyzed tumor tissues from 89 patients who received fulvestrant and aromatase inhibitors plus palbociclib for metastasis and recurrence between 2017 and 2020 at Samsung Hospital Seoul and Seoul National University Hospital by NGS analysis to identify the main cause of resistance revealed.
Tumor tissue and blood obtained from patients before treatment, during treatment, and after treatment at disease progression were sectioned, and RNA sequencing and whole-length exome sequencing (WES) were performed to compare the extent of progression free survival (WES). PFS) was affected.
According to the research team, the average age of the patients was 45 years, and the average PFS was 15 months. Disease progression was observed in 72% of patients, and molecular features different from those before treatment were found in patients with metastatic or recurrent HR+/HER2 breast cancer that showed resistance.
In particular, the study selected homologous recombination deficiency (HRD) and genomic scarring caused by estrogen response as ‘biomarkers’ for assessing patient prognosis, and mutations in the TP53 gene were associated with high tumor growth inhibition (high HRD and At combine, it promotes). resistance to anticancer drugs, worsening the patient’s prognosis.
In addition, compared to patients without mutations, the risk of disease development was confirmed to be 16.3 times higher, and this is due to the remarkable genetic modification of RB1, ESR1, PTEN, and KMT2C mediated by APOBEC, an enzyme that involved in gene mutation. ■ The research team said that genes play a major role in the development of the disease.
The research team said, “It is fortunate that we found the resistance-causing gene through multi-omics analysis in the absence of indicators to differentiate patients who can overcome resistance among metastatic breast cancer patients who need to use CDK4/6 inhibitors.” We will come up with a new strategy to target this through follow-up research so it can alleviate anxiety.”
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