A Family in Need: In-Class Case Study on Cancer Genetics
School of Arts & Sciences
This case is designed as an in-class, problem-based learning activity 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 version is the in-class version. The other, Internet-enhanced version requires that students work more independently as they use various websites and databases to discover key pieces of information for the case and is completed outside of class.
- 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.
- 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 examine ethical issues 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 diff erent 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.
KeywordsrDNA technology; Li Fraumeni syndrome; cancer; PCR; DNA microarrays; gene cloning; Southern blotting; DNA sequencing; genetic testing; gene therapy; pedigree analysis; P53; virotherapy
Educational LevelUndergraduate lower division, Undergraduate upper division
Type / MethodsAnalysis (Issues), Directed, Discussion
Subject HeadingsBiology (General) | Biotechnology | Genetics / Heredity | Molecular Biology | Medicine (General) |
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The supplemental material below may be used in conjunction with this case study.The p53 Gene and Cancer
How to Analyze DNA Microarray Data
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The following video(s) are recommended for use in association with this case study.
- Using p53 to Fight Cancer
This animation demonstrates how cancerous cells could be destroyed using a modified virus. Running time: 1:02 min. Produced by: HHMI BioInteractive.