- What Is the Human Genome?
- Cancer Genomics
- A Sample Human Genome
- Genes: Keepers of the Code
- Noncoding Regions
- Genes to mRNA to Proteins
- RNA Processing Before Translation
- Triplet Code
- Mutations
- Mutations: Somatic and Germline
- Tumors Are Clonal
- Somatic Mutations
- Mitosis and Somatic Mutations
- Meiosis and Germline Mutations
- Recombination: Crossing Over
- De Novo Mutations
- Point Mutations
- Frameshift Mutations
- Splice-Site Mutations
- Regulatory Mutations
- SNPs: Frequently Occurring Genetic Variants
- Large Deletions or Insertions
- Example: Translocation of Bcr-Abl Genes
- Cancer-Associated Mutations
- Genotypes and Phenotypes
- Alleles
- Same Allele, Different Locus, Different Phenotype
- Different Locus, Different Allele, Same Phenotype
- Penetrance
- Factors Influencing Penetrance
- Age-Related Penetrance
| | - Epigenetic Factors and Penetrance
- Epigenetic Example: Methylation Alters Gene Expression
- Imprinting Alters Gene Expression
- Carrier Frequency
- Prevalence and Founder Effect
- Example: Founder Effect in Ashkenazi Jewish Population
- Mutations in Cancer Susceptibility Genes: BRCA1
- Mutations in Cancer Susceptibility Genes: BRCA2
- Autosomal Dominant Inheritance
- Examples of Dominantly Inherited Cancer Syndromes
- Cancer Susceptibility: Incomplete Penetrance and Phenocopies
- Example: BRCA1-Linked Hereditary Breast and Ovarian Cancer
- Example: BRCA2-Linked Hereditary Breast Cancer
- Autosomal Recessive Inheritance
- Some Recessively Inherited Cancer Syndromes
- X-Linked Inheritance
- Other Genetic Conditions Linked to Increased Cancer Risk
- Normal Cell Growth: The Cell Cycle
- Abnormal Cell Growth: Oncogenes
- Tumor Suppressor Genes
- Mutations in Tumor Suppressor Genes
- Two-Hit Hypothesis
- Loss of Heterozygosity
- Heterozygous Condition
- Repair Failure
- Cancer Susceptibility: Much Still Unknown
- Epigenetic Changes: Much Still Unknown
- Other Cancer-Associated Mutations: Much Still Unknown
- Other Cancer-Associated Mutations: Much Still Unknown (cont.)
- A Daunting Challenge
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