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Understanding Cancer Series: Cancer Genomics
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Posted:
01/28/2005
Reviewed:
09/01/2006
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Cancer Genomics
Slide Number and Title
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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