Cancer 101: A Cancer Education and Training Program for [Target Population] Date Location Presented by: Presenter 1 Presenter 2

The Role of Genes in Cancer Cancer 101 Learning Module 4

Learning Objectives At the completion of learning Module 4, you will be able to: Describe the role genetics plays in our lives Describe what is meant by the term “gene” Describe what genes do Describe what a gene mutation is Describe how a genetic mutation might affect health and the development of cancer

Learning Objectives (cont’d) Describe how a genetic condition can be acquired or inherited Discuss what a genetic consultation is Describe the benefits and limitations of genetics testing Discuss the benefit of recording your family health history

Genetics Refers to the study of genes Plays a role in health and disease Tracing your family history can help you and your doctor determine risk and take action to keep your and your family healthy

Where are genes found? Gene

All Living Things Contain DNA SOURCE: National Human Genome Research Institute

All The Information Necessary SOURCE: National Human Genome Research Institute

DNA is organized into genes SOURCE: National Human Genome Research Institute

The Same DNA All of the cells in an individual contain the same exact genetic information.

“On” and “Off” Different sets of genes are turned “on” and “off” in different types of cells

A closer look at DNA SOURCE: National Human Genome Research Institute

Are Individuals Unique? SOURCE: National Human Genome Research Institute

Chromosomes Vary in number among different living things. Help ensure DNA is accurately copied and distributed during cell division. Changes in number or structure in new cells may lead to serious problems.

Interaction with Environment SOURCE: National Human Genome Research Institute

What is a gene mutation? Any permanent change in the DNA of a cell. Can be acquired, in which case they are caused by: –Harmful environmental exposures –Aging –Mistakes during cell division Can be hereditary

How are mutations inherited? Hereditary mutations are carried in the DNA of reproductive cells. When reproductive cells containing mutations combine to produce offspring, the mutation will be in all of the offspring’s body cells.

How do mutations affect us? Most disease begin in our genes. If DNA repair fails in a cell, mutations can be passed on to future copies. Gene mutations can have a latent effect, or even a positive effect. The ability to identify a gene mutation is possible through genetic testing.

Genetic conditions among ethnic groups

What is genetic testing? Gene testing involves examining a person's DNA for mutations linked to a disease or disorder. DNA typically taken from cells in a sample of blood. Test can tell if mutation is present, but not if disease will develop.

How is genetic testing used in studying cancer? In studying cancer, gene testing can be used to: –estimate risk of certain cancers, –diagnose some types of cancer, –classify cancer into subtypes, or –predict a patient's responsiveness to new treatments.

Benefits of genetic testing Poses minimal physical risk Negative result can: –cause relief –eliminate need for frequent check-ups and tests Positive result can: –relieve uncertainty –allow a person to make informed decisions about the future –give person chance to take steps to reduce risk before disease develops

Limitations of genetic testing Disorders that “run in families” can be traced to shared environmental exposures rather than inherited susceptibility. Mutations detected by a positive test may never lead to disease. Existing tests look for more common gene mutations, many disease-causing mutations may escape. Positive result may not have adequate treatment. Positive result can have adverse psychological consequences. Positive result can affect family and personal relationships.

Genetic Information Nondiscrimination Act of 2008 Protects a person’s confidentiality regarding gene test results. Prohibits insurance companies and employers from discriminating against individuals based on knowledge of differences in their DNA that may affect their health. Image Source: National Human Genome Research Institute

Family Health Family members share genes, behaviors, lifestyles and environments. Having a close family member with a chronic disease may increase your risk of developing that disease. Image Source: National Human Genome Research Institute

Family Health History Written or graphic record of the diseases and health conditions present in your family. Useful tool for understanding health risks and preventing disease in individuals and their close relatives.

Family History Information Important to collect: Gender Date of birth For deceased relatives, age at time of death and cause of death Disease or other medical conditions Age of disease onset Diet, exercise habits, smoking habits, or history of weight problems Ancestry

Which diseases are important to track? Alcoholism Arthritis Asthma Birth defects Cancer Diabetes Hearing loss Heart disease High blood pressure High cholesterol Learning disabilities Kidney disease Mental illness Mental retardation Miscarriages or stillbirths Stroke Substance abuse Vision loss

Determining Your Risk Patterns in a family history that may indicate a higher risk: More than one blood relative with a particular disease Diagnosis at an earlier age than expected Diseases that are rare in a certain gender Recurring combinations of diseases

Surgeon General’s Family History Initiative A national campaign to encourage Americans to learn more about their family history My Family Health Portrait

This site provides reliable information on cancer risk: –What it means –What we know about contributors to risk –What you can do about it

Case Study Martha heard about the Surgeon General’s Family History Initiative and decided to discuss family history with her relatives at their family reunion. After a great deal of conversation, Martha learned that her mother and grandmother had both been diagnosed with breast cancer. Martha is wondering if this might mean she could be at higher risk for breast cancer.

Case Study (cont’d) Martha wonders whether she should talk to her doctor about genetic testing. –What would be some of the benefits of genetic testing? –What would be some of the limitations or risks of genetic testing?

Research for the future… Genetics has the power to improve the lives of patients through: Targeted therapy Gene therapy Personalized medicine Image Source: National Human Genome Research Institute

Targeted Therapy Blocks the growth and spread of cancer by interfering with specific molecules involved in tumor growth and progression. –Gleevec for certain kinds of leukemia –Herceptin for certain types of breast cancer

Gene Therapy SOURCE: National Human Genome Research Institute

Personalized Medicine Goals: –Identify genetic differences between people that affect drug response –Develop genetic tests that predict an individual’s response to a drug –Tailor medical treatments to the individual Increase effectiveness Minimize adverse side effects Image Source: National Human Genome Research Institute

In Summary You now have an understanding of: –Genes –What a gene mutation is and the role it could play in your health and development –How gene mutations are acquired or inherited –What a genetic consultation is –The benefits and limitations of genetic testing –The importance of knowing about your family health history