Cancer Genetics Flashcards
What percentage of cancers are genetic?
100%
What are some ways cancerous mutations can occur in genes over time?
Lifestyle: smoking
Exposures: environmental; occupational
Internal factors: Viruses; hormones
About __% of cancer is hereditary
About __% of cancer is considered familial (due to multiple genes and environmental factors)
10%; 30%
The majority of cancer is ______
sporadic
Are inherited cancers autosomal dominant or recessive?
Dominant
What is the difference between hereditary retinoblastoma and nonhereditary retinoblastoma?
Hereditary retinoblastoma - one mutation of RB gene is inherited in all body cells and mutation in second copy of RB gene occurs in one or more retina cells
Nonhereditary - Second and first hit are both nonhereditary (random mutations)
Families with hereditary cancer syndromes have what “red flags”?
- Younger than expected age of dx (<50)
- Many affected family members
- More than one generation affected
- Pairing of cancers in family
- More than one cancer in same person
- Ashkenazi Jewish heritage
Which types of cancer are often genetic
Breast, Ovarian, colon, endothelial
What is the role of a cancer genetic counselor?
- Explore psychological impact of genetic testing
- Work closely with insurance companies (important)
- Talk about implications
- Discuss DNA banking
Different types of genetic testing
- Single site analysis
- Multisite analysis
- Sequencing
- Deletion/duplication testing
- Next generation sequencing
What is next generation sequencing?
Looking at multiple genes at once
- Gene panels
- Whole exome sequencing
- Whole genome sequencing
Benefits of genetic testing
- Provides risk information for individuals and families
- Information useful for medical management
- Leads to cancer PREVENTION and EARLY detection of cancer
Limitations to Genetic Testing
- Genetic testing is not able to detect all causes of hereditary cancer
- Continued risk for sporadic cancers
- Some management strategies not proven effective
What is GINA
The genetic information nondiscrimination act
GINA is a federal law passed in 2008 that protects individuals from genetic discrimination in health insurance and employment
_______ ________ _______ can aid in patient management
Risk assessment models
