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 * Slides
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PRINTABLE HANDOUTS

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NAVIGABLE SLIDE INDEX

 1.  Introduction
 2.  Disclosures
 3.  Learning Objectives
 4.  Sporadic (acquired) mutations are common
 5.  Sporadic cancer: Knudsen’s two hit hypothesis
 6.  Hereditary cancer predisposition
 7.  Importance of familial cancer assessment
 8.  Typical referrals to a cancer genetics clinic
 9.  Germline (inherited) cancer predisposition
 10. Pitfalls when assessing pedigrees (1)
 11. Pitfalls when assessing pedigrees (2)
 12. Confirming a cancer diagnosis
 13. Ethnicity
 14. An example of mutation analysis
 15. Diagnostic clues in breast cancer
 16. Diagnostic clues in ovarian cancer
 17. Breast cancer identification
 18. “Easy-looking” families can be the hardest
 19. Early-onset ovarian cancer (1)
 20. Early-onset ovarian cancer (2)
 21. Using risk in cancer genetics (1)
 22. Using risk in cancer genetics (2)
 23. Using risk in cancer genetics: methods
 24. Using risk in cancer genetics: tools
 25. Risk in multi-gene panels: breast cancer
 26. GWAS in cancer genetics (1)
 27. GWAS in cancer genetics (2)
 28. A “typical” BRCA1/2 family
 29. Lifetime cancer risks: penetrance
 30. Lifetime cancer risks (1)
 31. Lifetime cancer risks (2)
 32. BRCA1 genotype-phenotype (1)
 33. BRCA2 genotype-phenotype (2)
 34. Asking the right types of question: case 1 (1)
 35. Asking the right types of question
 36. Affected vs. non-affected females
 37. Age considerations
 38. Asking the right types of question: case 2 (1)
 39. Asking the right types of question: case 2 (2)
 40. Features of HBOCS families
 41. Male:male transmission
 42. Deciding who to offer testing to
 43. Risk assessment
 44. Lifetime breast cancer (% risk from age 40)
 45. Current guidelines for BRCA1/BRCA2 testing
 46. Scenario (continued)
 47. Implications of the test result?
 48. Implications of a positive BRCA1/2 test (1)
 49. Implications of a positive BRCA1/2 test (2)
 50. Implications of a positive BRCA1/2 test (1)
 51. Implications of a positive BRCA1/2 test (2)
 52. Ovarian cancer screening: UKFOCCS
 53. Options to reduce risks in HBOC
 54. Oophorectomy +/- hysterectomy
 55. Current hereditary breast cancer panels
 56. Colon cancer: an overview
 57. Familial adenomatous polyposis
 58. Colorectal cancer pedigree: case 1
 59. Colorectal cancer pedigree: case 2
 60. Non-malignant features of FAP
 61. Extracolonic tumors in FAP
 62. MAP: MUTYH-associated polyposis
 63. Lynch syndrome
 64. Lynch syndrome (HNPCC)
 65. Cumulative lifetime risk of CRC in MSH2
 66. Other cancers in Lynch syndrome
 67. Microsatellite instability (MSI)
 68. IHC for MSH2 in colorectal cancer
 69. Lynch syndrome screening (1)
 70. Lynch syndrome screening (2)
 71. Therapeutic decision making
 72. Testing for germline mutations
 73. Comparative status for different cancers
 74. New developments on the horizon
 75. Further reading

TOPICS COVERED

 * Principles of cancer genetics
 * Family history assessing including pedigrees
 * Testing for cancer predisposition
 * Evaluating risk in cancer genetics
 * Common inherited cancers including breast, ovarian, and colorectal
 * Implication of BRCA1/2 in ovary and breast cancers
 * Colon cancer and Lynch syndrome

LINKS

SERIES:

 * Introduction to Human Genetics and Genomics

CATEGORIES:

 * Cancer
 * Genetics & Epigenetics

THERAPEUTIC AREAS:

 * Oncology

TALK CITATION

Tischkowitz, M. (2020, May 31). A primer of familial cancer genetics [Video
file]. In The Biomedical & Life Sciences Collection, Henry Stewart Talks.
Retrieved June 24, 2020, from https://hstalks.com/bs/4304/.


PUBLICATION HISTORY

 * Published on May 31, 2020

FINANCIAL DISCLOSURES

 * Dr. Marc Tischkowitz has not informed HSTalks of any commercial/financial
   relationship that it is appropriate to disclose.



Embed in course/own notesEmbed Lecture


A PRIMER OF FAMILIAL CANCER GENETICS

 * Dr. Marc Tischkowitz – University of Cambridge, UK

Published on May 31, 2020   50 min
 
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