Genetic Testing and Screening Recommendations in Hereditary Breast Cancer

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