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Understanding Cancer Genomics


National Cancer Institute

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