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Cancer Risk Assessment Judith A Westman MD Clinical Director Division of Human Genetics
Cancer risk assessment is a multi-step process Provide post-test counseling and  follow-up Identify  hereditary risk patients Provide risk assessment Provide informed consent Select and offer test Disclose results
The cancer family history  is the key to: ,[object Object],[object Object],[object Object]
Taking a cancer family history ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
Breast Cancer Best model for risk assessment
Cancer Risk Assessment  (for high risk breast cancer) ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
Gail model ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
 
Pitfalls of Gail model ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
Cancer and Steroid Hormone Study
 
Three-generation pedigree Breast Ca,  dx 41 35 German/Polish English/Irish Breast Ca,  dx 49 d. 80 67 55 65 Diabetes,  dx 45 52 30 d. 70 d. 85 59 62 d. 52
Claus risk for breast cancer ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
[object Object],[object Object],[object Object],[object Object],Misconceptions about family history ,[object Object],[object Object],[object Object],[object Object]
Hereditary Breast and Ovarian Cancer Sporadic Hereditary BRCA1  (62%) Other genes (16%) BRCA2  (32%) 7-10%
Features that indicate increased likelihood of having  BRCA  mutations ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],ASCO
BRCA1 -Associated Cancers: Lifetime Risk ASCO Possible increased risk of other cancers (eg, prostate, colon) Breast cancer  50%  85% (often early age at onset) Second primary breast cancer  40%  60% Ovarian cancer  15%  45%
BRCA1 -Linked Hereditary  Breast and Ovarian Cancer ASCO BRCA1 -mutation carrier Breast,  dx 59 Noncarrier Affected with cancer Breast, dx 45 d. 89 92 86 73 68 Ovary, dx 59 d. 62 71 Breast,  dx 36 36
BRCA2 -Associated Cancers: Lifetime Risk ASCO Increased risk of prostate, laryngeal, and pancreatic cancers (magnitude unknown) breast cancer   (50%  85%) ovarian cancer   (10%  20%) male breast cancer   (6%)
 
Westman experience (1996-2009):  5 positive results
TP53  mutation R181C BrCa dx 43 Lymphoma, 9 Brain, 46 Renal Ca, 81 Bone, 18 Renal, 51 Brain, 12
 
 
Who to test? ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
Who to test? Breast Ca,  dx 41 35 German/Polish English/Irish Breast Ca,  dx 49 d. 80 67 55 65 Diabetes,  dx 45 52 30 d. 70 d. 85 59 62 d. 52
Risk assessment ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],Upper risk figures from Myriad Laboratory, lower from BRCAPro
Use of pathology to refine risk ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],Narod SA, Offit K J Clin Oncol 2005; 23:1656-1663
BRCA risk modifiers ,[object Object],[object Object],[object Object],[object Object],[object Object],Breast, 70s Pancr, 73 Breast, 35 basal
Clinical Management of  BRCA Mutation-Positive Patient Positive  BRCA1  or  BRCA2  test result Possible testing for other adult relatives Increased surveillance Prophylactic surgery Lifestyle changes Chemo- prevention ASCO
Primary prevention of breast cancer ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
Chemoprevention of Breast Cancer in  BRCA1/2  Carriers Tamoxifen Risk reduction of 50% or more  in both  BRCA1  and  BRCA2  carriers Gronwald J et al, Int J Cancer 2006;118(9):2281-4
Secondary prevention of breast cancers in  BRCA1/2  carriers ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],Narod SA, Offit K  J Clin Oncol 2005; 23:1656-1663
Cancer risk reduction with prophylactic surgery Domchek and Weber, Oncogene 2006; 25:5825-5831
Modifying risk for relatives 56,  Breast, 51 Ovarian, 51 d. 49 Breast, 44 58 Fallopian tube, 53 BRCA1 + BRCA1 + BRCA1 - BRCA1 -
Other breast cancer syndromes ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
Colorectal Cancer
Colorectal cancer ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
Risk alteration in hereditary CRC ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
Cancer and Life Insurance
Actuarial fairness ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
Philadelphia group ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],Subramanian K et al (1999), J Risk Insur 66:531;  Lemaire J et al (2000), N Am Actuarial 4:75
“ Genetic testing, adverse selection, and the demand for life insurance” ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],Zick et al (2000), Am J Med Genet 93:29
“ Life insurance and breast cancer risk assessment” (2003) ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],K Armstrong et al (2003), Am J Med Genetics 120A:359
Genetic Information Nondiscrimination Act (2008) ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
Points to ponder (1) ,[object Object],[object Object]
Points to ponder (2) ,[object Object],[object Object],[object Object]
 

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Risk Appraisal Forum 2009 Westman

  • 1. Cancer Risk Assessment Judith A Westman MD Clinical Director Division of Human Genetics
  • 2. Cancer risk assessment is a multi-step process Provide post-test counseling and follow-up Identify hereditary risk patients Provide risk assessment Provide informed consent Select and offer test Disclose results
  • 3.
  • 4.
  • 5. Breast Cancer Best model for risk assessment
  • 6.
  • 7.
  • 8.  
  • 9.
  • 10. Cancer and Steroid Hormone Study
  • 11.  
  • 12. Three-generation pedigree Breast Ca, dx 41 35 German/Polish English/Irish Breast Ca, dx 49 d. 80 67 55 65 Diabetes, dx 45 52 30 d. 70 d. 85 59 62 d. 52
  • 13.
  • 14.
  • 15. Hereditary Breast and Ovarian Cancer Sporadic Hereditary BRCA1 (62%) Other genes (16%) BRCA2 (32%) 7-10%
  • 16.
  • 17. BRCA1 -Associated Cancers: Lifetime Risk ASCO Possible increased risk of other cancers (eg, prostate, colon) Breast cancer 50%  85% (often early age at onset) Second primary breast cancer 40%  60% Ovarian cancer 15%  45%
  • 18. BRCA1 -Linked Hereditary Breast and Ovarian Cancer ASCO BRCA1 -mutation carrier Breast, dx 59 Noncarrier Affected with cancer Breast, dx 45 d. 89 92 86 73 68 Ovary, dx 59 d. 62 71 Breast, dx 36 36
  • 19. BRCA2 -Associated Cancers: Lifetime Risk ASCO Increased risk of prostate, laryngeal, and pancreatic cancers (magnitude unknown) breast cancer (50%  85%) ovarian cancer (10%  20%) male breast cancer (6%)
  • 20.  
  • 21. Westman experience (1996-2009): 5 positive results
  • 22. TP53 mutation R181C BrCa dx 43 Lymphoma, 9 Brain, 46 Renal Ca, 81 Bone, 18 Renal, 51 Brain, 12
  • 23.  
  • 24.  
  • 25.
  • 26. Who to test? Breast Ca, dx 41 35 German/Polish English/Irish Breast Ca, dx 49 d. 80 67 55 65 Diabetes, dx 45 52 30 d. 70 d. 85 59 62 d. 52
  • 27.
  • 28.
  • 29.
  • 30. Clinical Management of BRCA Mutation-Positive Patient Positive BRCA1 or BRCA2 test result Possible testing for other adult relatives Increased surveillance Prophylactic surgery Lifestyle changes Chemo- prevention ASCO
  • 31.
  • 32. Chemoprevention of Breast Cancer in BRCA1/2 Carriers Tamoxifen Risk reduction of 50% or more in both BRCA1 and BRCA2 carriers Gronwald J et al, Int J Cancer 2006;118(9):2281-4
  • 33.
  • 34. Cancer risk reduction with prophylactic surgery Domchek and Weber, Oncogene 2006; 25:5825-5831
  • 35. Modifying risk for relatives 56, Breast, 51 Ovarian, 51 d. 49 Breast, 44 58 Fallopian tube, 53 BRCA1 + BRCA1 + BRCA1 - BRCA1 -
  • 36.
  • 38.
  • 39.
  • 40. Cancer and Life Insurance
  • 41.
  • 42.
  • 43.
  • 44.
  • 45.
  • 46.
  • 47.
  • 48.