This study is currently not recruiting participants.

Development of a cellular model of chemotherapy-induced toxicity CIPN and CHF

Investigating Genetic Variants in Breast Cancer Treatment

Not Recruiting
100 years or below
All
Phase N/A
1 Location

Brief description of study.

We are applying for data from dbGaP (http://www.ncbi.nlm.nih.gov/gap/). Access to this dataset requires approval from the investigator?s local institutional review board as part of the application process. Additionally full IRB review is required before access to data will be granted. Upon approval of the application, the investigators can download de-identified genotype and phenotype data from dbGaP.

The genomic data requested will be used in two ongoing projects our lab is currently working on. 1) In a prior randomized phase III breast cancer trial, our lab found through whole exome sequencing (WES) that deleterious mutations in gene SBF2 were associated with taxane-induced peripheral neuropathy (TIPN) in African Americans (AA). This finding led us to further explore and functionally validate the role of SBF2 in TIPN using human induced pluripotent stem cells (iPSC)-derived sensory neurons from genetically confirmed AAs. 2) Our lab has also identified a single nucleotide variance associated with the development of congestive heart failure (CHF) via genome-wide association study (GWAS) in breast cancer patients treated with anthracycline-based chemotherapy.

In this study, we will use this genomic data to identify iPSC cell lines with the SNP of interest to derive human iPSC-derived cardiomyocytes and neurons.

Detailed description of study

We are applying for data from dbGaP (http://www.ncbi.nlm.nih.gov/gap/). Access to this dataset requires approval from the investigator?s local institutional review board as part of the application process. Additionally full IRB review is required before access to data will be granted. Upon approval of the application, the investigators can download de-identified genotype and phenotype data from dbGaP.

The genomic data requested will be used in two ongoing projects our lab is currently working on. 1) In a prior randomized phase III breast cancer trial, our lab found through whole exome sequencing (WES) that deleterious mutations in gene SBF2 were associated with taxane-induced peripheral neuropathy (TIPN) in African Americans (AA). This finding led us to further explore and functionally validate the role of SBF2 in TIPN using human induced pluripotent stem cells (iPSC)-derived sensory neurons from genetically confirmed AAs. 2) Our lab has also identified a single nucleotide variance associated with the development of congestive heart failure (CHF) via genome-wide association study (GWAS) in breast cancer patients treated with anthracycline-based chemotherapy.

In this study, we will use this genomic data to identify iPSC cell lines with the SNP of interest to derive human iPSC-derived cardiomyocytes and neurons.

Eligibility of study

You may be eligible for this study if you meet the following criteria:

  • Conditions: breast cancer
  • Age: 100 years or below
  • Gender: All

This study investigates the genetic factors that may influence side effects in breast cancer patients undergoing treatment. Specifically, it looks at certain mutations in a gene called SBF2, which may be linked to nerve damage caused by taxane chemotherapy in African American individuals. Additionally, the study examines a genetic variation that might relate to heart failure in patients treated with anthracycline, another type of chemotherapy. The purpose is to better understand these genetic links using special cells derived from patients' own cells.

Participants in this study will have their genetic information analyzed to identify specific genetic markers. Researchers will use this data to create heart and nerve cells in the lab from participants' cells. These lab-grown cells will help scientists study the effects of genetic variations on the body more closely. This process involves using human-induced pluripotent stem cells, which are cells that can be turned into any cell type in the body.

  • Who can participate: The study focuses on individuals who have undergone breast cancer treatment with taxane or anthracycline chemotherapy and possess genetic markers of interest.
  • Study details: Genetic samples will be collected for analysis. Some samples will be used to create lab-grown heart and nerve cells for further study.
Updated on 19 Feb 2024. Study ID: 1806222098

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