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A Family in Need: Internet-Enhanced Case Study on Cancer Genetics


Janet A. De Souza-Hart
School of Arts & Sciences
MCPHS University


This problem-based learning case was designed for students to learn about several innovative medical applications of molecular biology. Students assume the role of a second-year medical student assigned to work with a pediatric oncologist who has just biopsied a tumor-like growth in the adrenal gland of her 17-year-old patient, Lee F. After taking Lee’s family history and performing a pedigree analysis, students review clinical and genetic characteristics of several syndromes associated with adrenal cancer. Students then explore various diagnostic and biomedical research techniques such as PCR, DNA sequencing, and pre-implantation genetic diagnosis. The case concludes with a consideration of how to treat Lee’s condition with the help of gene cloning and the potential of gene therapy. Although originally written for an upper-level college genetics course, the case could also be adapted for an introductory molecular/cellular biology course, a non-majors biology course, or a professional school medical genetics course. The case has two versions: an "in-class version" and an "Internet version." This is the Internet-enhanced version that requires that students work more independently as they use various websites and databases to discover key pieces of information for the case.  It is designed to be distributed to students to complete outside of class using an Internet-connected computer.

  • Draw a pedigree for a genetic disorder with appropriate symbols and notations using a family history.
  • Analyze a pedigree to determine whether it is consistent with specific human inheritance patterns.
  • Use specific, reputable biomedical databases to find relevant and current information on genetic disorders.
  • Understand the connection between specific genetic mutations, gene expression, and phenotype as it relates to an inherited form of cancer (Li Fraumeni syndrome).
  • Describe in detail the molecular genetics and phenotype of Li Fraumeni syndrome.
  • Describe the current state of prevention (both pre- and post-natal) for Li Fraumeni syndrome.
  • Describe several types of genetic tests, as well as ex amine ethical issues and search reputable databases related to genetic testing.
  • Define and apply PCR, DNA sequencing, pre-implantation genetic diagnosis, and microarray techniques to the diagnosis of a genetic disorder.
  • Evaluate a microarray for differences in gene expression as they relate to cancer. In addition, define different categories of cancer genes (tumor-suppressor, genome maintenance, etc.).
  • Describe different types of point mutations and predict how they might impact gene expression.
  • Identify the goal of and current techniques related to gene therapy.
  • Apply knowledge of gene therapy to a specific type of cancer and assess/evaluate risks and benefits.
  • Apply scientific/medical knowledge to a written assignment to reflect on the potential of gene therapy.
Keywords: rDNA technology; Li Fraumeni syndrome; cancer; PCR; DNA microarrays; gene cloning; Southern blotting; DNA sequencing; genetic testing; gene therapy; pedigree analysis; P53; virotherapy
Topical Area: Ethics
Educational Level: Undergraduate lower division, Undergraduate upper division
Formats: PDF
Type/Method: Analysis (Issues), Directed, Discussion
Language: English
Subject Headings: Biology (General)   Biotechnology   Genetics / Heredity   Molecular Biology   Medicine (General)  
Date Posted: 4/30/2013
Date Modified: N/A
Copyright: Copyright held by the National Center for Case Study Teaching in Science, University at Buffalo, State University of New York. Please see our usage guidelines, which outline our policy concerning permissible reproduction of this work.

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Supplemental Materials

The supplemental material below may be used in conjunction with this case study:

  The p53 Gene and Cancer hhmi/
This self-paced "Click and Learn" activity explains the structure and function of the p53 protein as well as how the protein's activity is regulated. Produced by: HHMI BioInteractive.
  How to Analyze DNA Microarray Data hhmi/
In this self-paced "Click and Learn" activity, students learn how researchers use computing to analyze and interpret the huge datasets generated by microarray experiments. Produced by: HHMI BioInteractive.


The following video(s) are recommended for use in association with this case study.

  Using p53 to Fight Cancer hhmi/
This animation demonstrates how cancerous cells could be destroyed using a modified virus. Running time: 1:02 min. Produced by: HHMI BioInteractive.

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