Title Page
1. What Is the Human Genome?
2. Cancer Genomics
3. A Sample Human Genome
4. Genes: Keepers of the Code
5. Noncoding Regions
6. Genes to mRNA to Proteins
7. RNA Processing Before Translation
8. Triplet Code
9. Mutations
10. Mutations: Somatic and Germline
11. Tumors Are Clonal
12. Somatic Mutations
13. Mitosis and Somatic Mutations
14. Meiosis and Germline Mutations
15. Recombination: Crossing Over
16. De Novo Mutations
17. Point Mutations
18. Frameshift Mutations
19. Splice-Site Mutations
20. Regulatory Mutations
21. SNPs: Frequently Occurring Genetic Variants
22. Large Deletions or Insertions
23. Example: Translocation of Bcr-Abl Genes
24. Cancer-Associated Mutations
25. Genotypes and Phenotypes
26. Alleles
27. Same Allele, Different Locus, Different Phenotype
28. Different Locus, Different Allele, Same Phenotype
29. Penetrance
30. Factors Influencing Penetrance
31. Age-Related Penetrance
32. Epigenetic Factors and Penetrance
33. Epigenetic Example: Methylation Alters Gene Expression
34. Imprinting Alters Gene Expression
35. Carrier Frequency
36. Prevalence and Founder Effect
37. Example: Founder Effect in Ashkenazi Jewish Population
38. Mutations in Cancer Susceptibility Genes: BRCA1
39. Mutations in Cancer Susceptibility Genes: BRCA2
40. Autosomal Dominant Inheritance
41. Examples of Dominantly Inherited Cancer Syndromes
42. Cancer Susceptibility: Incomplete Penetrance and Phenocopies
43. Example: BRCA1-Linked Hereditary Breast and Ovarian Cancer
44. Example: BRCA2-Linked Hereditary Breast Cancer
45. Autosomal Recessive Inheritance
46. Some Recessively Inherited Cancer Syndromes
47. X-Linked Inheritance
48. Other Genetic Conditions Linked to Increased Cancer Risk
49. Normal Cell Growth: The Cell Cycle
50. Abnormal Cell Growth: Oncogenes
51. Tumor Suppressor Genes
52. Mutations in Tumor Suppressor Genes
53. Two-Hit Hypothesis
54. Loss of Heterozygosity
55. Heterozygous Condition
56. Repair Failure
57. Cancer Susceptibility: Much Still Unknown
58. Epigenetic Changes: Much Still Unknown
59. Other Cancer-Associated Mutations: Much Still Unknown
60. Other Cancer-Associated Mutations: Much Still Unknown (cont.)
61. A Daunting Challenge
