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Frontiers in Breast Cancer: A Case Study Exploring Personalized Medicine Using NCBI Tools

List of participants in the group project and their affiliations:

Project Summary

In Triple-Negative Breast Cancer (TNBC), the absence of Androgen Receptor (AR) expression, alongside estrogen receptor (ER), progesterone receptor (PR), and HER2, defines the aggressive "quadruple negative" subtype. AR-negative TNBC, particularly prevalent among African American women, is associated with a poorer prognosis due to enriched basal and immune signatures. This case study, designed for high school and undergraduate students, highlights the importance of including AR status in breast cancer classification. AR acts as a critical prognostic marker and a potential target for immune-based therapies. Utilizing NCBI tools such as ClinVar, PDB, BLAST, PubMed, ICn3D and GEO databases can help students explore AR’s role in TNBC and guide the development of more personalized and effective treatment strategies.

Prerequisite knowledge for students

Ideally, students should meet the following prerequisites prior to using the case study:

  • Have fundamental knowledge on Biology, especially Molecular Biology.
  • Have had a brief introduction into Cancer Biology.
  • Have had a brief introduction into gene expression/genome analysis.
  • Know the technologies needed to determine gene expression and other fundamental techniques used in diagnostics.
  • Have been introduced to basics of experimental design.
  • Design an experiment to test a hypothesis (skill).

Learning objectives

Following the completion of the case study, students should be able to:

  1. Have an understanding of cancer subtypes and how treatment protocols are selected for each subtype.
  2. Be able to describe how molecular genetics influences disease progression and treatment outcomes, with a consideration of racial factors.
  3. Explain the significance of structural and expression gene variations in shaping treatment responses and disease outcomes in breast cancer.
  4. Utilize a variety of NCBI tools such as ClinVar, PDB, BLAST, ORFfinder, and iCn3D for in-depth genomic analysis and interpretation in breast cancer research.
  5. Advocate for the importance of genetic analysis in developing personalized medicine.
  6. Appreciate the importance of Genomics to science and society at large.

Course Materials

The case study is provided as a pdf file. It is supplemented by additional supporting materials include: patient referral forms (.docx and .pdf), IHC images (.pptx), and patient cDNA sequence file (in FASTA format).

Assessments

The guided case study includes questions that assess student understanding and skills through the process. There is a plan to develop further assessment tools, which will include quizzes to test understanding of AR in TNBC and NCBI tools, tests for detailed concepts and data interpretation, and practical assessments to apply learned skills to other case studies. This approach ensures a thorough evaluation of both theoretical knowledge and practical skills.

Future Work

  • Enzalutamide, a competitive inhibitor of the androgen receptor (AR), blocks androgen signaling by binding to the receptor and preventing activation by natural ligands. For advanced classes, structural information from PubChem can be integrated to explore how specific mutations influence enzalutamide’s binding efficacy and the resulting impact on inhibitor effectiveness.
  • NCBI Genetic Test Registry can be used in appropriate level and topic classes to discuss available tests for breast cancer.
  • Further exploration of the T575A mutant can be introduced, using the PDB ID 1R4I.
  • The case study can be adapted to include the introduction and discussion of techniques used in molecular diagnosis, offering students both foundational knowledge and practical insights into how these methods are applied in clinical settings.

NCBI Curriculathon Disclaimer

This project was created as part of the BioEd Summit Curricula-thon, a week-long event focused on collaborative development of data-driven learning experiences. While we encourage you to explore and adapt this project, please be aware that NCBI does not provide ongoing support for it.

For general questions about NCBI software and tools, please visit: NCBI Contact Page

About

This repository contains curricular materials developed by Team Just Franklin during NCBI's BioEd Summit (August 2024).

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