Genetic Testing and Screening Recommendations in Hereditary Breast Cancer

A review of genetic counseling, including the use of risk assessment models; the process of genetic testing; and the various gene mutations associated with an increased risk of breast cancer.

Course ID: Q00637 Category:
Modalities: ,

3.0

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$34.00

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Targeted CE per ARRT’s Discipline, Category, and Subcategory classification:
[Note: Discipline-specific Targeted CE credits may be less than the total Category A credits approved for this course.]

Breast Sonography: 1.50
Patient Care: 1.00
Patient Interactions and Management: 1.00
Procedures: 0.50
Pathology: 0.50

Mammography: 1.50
Patient Care: 1.00
Patient Interactions and Management: 1.00
Procedures: 0.50
Anatomy, Physiology, and Pathology: 0.50

Magnetic Resonance Imaging: 0.50
Procedures: 0.50
Body: 0.50

Registered Radiologist Assistant: 1.50
Procedures: 1.50
Thoracic Section: 1.50

Sonography: 0.50
Procedures: 0.50
Superficial Structures and Other Sonographic Procedures: 0.50

Radiation Therapy: 1.50
Patient Care: 1.00
Patient and Medical Record Management: 1.00
Procedures: 0.50
Treatment Sites and Tumors: 0.50

Outline

  1. Introduction
  2. Pretest Genetic Counseling
  3. Commonly Used Risk Assessment Models
    1. Gail and Claus Models
    2. Tyrer-Cuzick Model
    3. BRCA Mutation Probability Models
  4. Other Considerations
    1. Selecting a Model
    2. Financial Costs
    3. Privacy and Discrimination Concerns
  5. Genetic Testing and Posttest Counseling
  6. High-Risk Genes
    1. BRCA1 and BRCA2
      1. Screening, Risk Management, and Treatment Implications
    2. TP53
      1. Screening, Risk Management, and Treatment Implications
    3. PTEN
      1. Screening, Risk Management, and Treatment Implications
    4. CDH1
      1. Screening, Risk Management, and Treatment Implications
    5. STK11
      1. Screening, Risk Management, and Treatment Implications
    6. ATM
      1. Screening, Risk Management, and Treatment Implications
    7. CHEK2
      1. Screening, Risk Management, and Treatment Implications
    8. PALB2
      1. Screening, Risk Management, and Treatment Implications
    9. Lynch Syndrome
      1. Screening, Risk Management, and Treatment Implications
  7. Additional Imaging Characteristics of Hereditary Breast Cancer
  8. Conclusion

Objectives

Upon completion of this course, students will:

  1. state the estimated number of women that will develop breast cancer in their lifetime
  2. list examples of enhanced screening for breast cancer
  3. list criteria for genetic counseling referral per the National Comprehensive Cancer Network
  4. state which gene mutations are most commonly associated with increased risk of breast cancer
  5. differentiate between personal and genetic variables when evaluating for breast cancer
  6. state when the Gail risk assessment model was designed
  7. state what the Gail risk assessment model is based on
  8. recall how many questions are on the Gail risk assessment model
  9. state who developed the Claus risk assessment model
  10. list the factors used for breast cancer risk assessment in the Claus model
  11. list the breast cancer risk assessment models that predict a patient’s risk of carrying the BRCA1 and BRCA2 mutation
  12. choose the BRCA mutation probability model that addresses the European and Ashkenazi Jewish population
  13. state which breast cancer risk model includes familial risks beyond those in second-degree relatives
  14. list the key components that geneticists can use to help determine which risk model is appropriate for a specific patient
  15. choose the most consistently accurate model for breast cancer risk prediction
  16. state what patient population has BRCA1 and BRCA2 mutation testing covered by Medicare
  17. state the month and year the U.S. Food and Drug Administration approved the first direct-to-consumer BRCA test by 23and Me
  18. choose the act that prevents health insurers from using genetic information to make policy decisions and employers from using genetic information in employment decisions
  19. list the multigene sequencing panels that include high-risk genes for developing breast cancer
  20. choose the high-risk gene that is associated with hereditary diffuse genetic cancer
  21. list the possible outcomes of genetic testing
  22. define a true negative genetic testing result
  23. state the percent of breast cancer cases that are caused by the BRCA1 and BRCA2 mutation
  24. choose the location of the BRCA2 gene
  25. choose the approximate amount of BRCA gene mutations that have been identified
  26. state the average age of breast cancer onset for BRCA gene mutation carriers
  27. state the approximate percent of BRCA2 mutation carriers that will develop breast cancer by the age of 70
  28. state the sensitivity of mammography for the detection of breast cancer in patients with a BRCA mutation
  29. list the factors associated with cancers in patients with BRCA1 mutations as compared with those that manifest sporadically in the general population
  30. understand the implications of a patient’s family history of cancer
  31. state the average age of breast cancer diagnosis in male BRCA-mutation carriers
  32. state the chromosome location for TP53
  33. state the most common cancer in patients with Cowden syndrome
  34. state the average age of diagnosis for hereditary diffuse gastric cancer
  35. describe the most common location for hamartomatous polyps
  36. state the mean age for diagnosis of Peutz-Jeghers syndrome
  37. state the overall lifetime risk of breast cancer in patients with a single ATM mutation
  38. recall the lifetime risk of breast cancer for patients with the CHEK2 mutation
  39. recall the additional common cancer in patients with a single PALB2 mutation
  40. list the cancers associated with Lynch syndrome