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Talia Donenberg, M.S., C.G.C. Board Certified Genetic Counselor Center for Cancer Prevention and Genetics University of Miami/Jackson Health System Can we prevent cancer?
[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],The genetics of cancer predisposition
These are the most powerful weapons in the battle against cancer Risks are  much higher  than the general population risk Hereditary Risk:  Why  do we need to know? ,[object Object],[object Object],[object Object],[object Object]
About 2-15% of most adult cancers have a strong inherited basis How Common is Hereditary Cancer?
Lynch HT et al. JSO 2005 Importance of Family History
[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],Sifting through the family tree
When to Suspect an Inherited Cancer Syndrome ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
Indication for Genetic Counseling ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],Without Family History
Genetic Counselors can help with: ,[object Object],[object Object],[object Object],[object Object],[object Object]
If your personal or family history suggests an inherited cancer syndrome How is gene testing done? ,[object Object],[object Object],[object Object],[object Object]
Medical Management Options Positive  Genetic Test  result Possible testing for other adult relatives Increased surveillance Prophylactic surgery Lifestyle changes Chemo- prevention
[object Object],[object Object],[object Object],[object Object],Breast Cancer Statistics Breast Cancer 15-20% 5%–8% Sporadic Hereditary Family clusters
Breast Cancer Genes BRCA1 BRCA2 Other Genes
Hereditary Breast/Ovarian Cancer Syndrome ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],BRCA1/BRCA2 lifetime risk
What options do BRCA carriers have? ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
Targeted Treatment  for Hereditary cancers ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
Colon Cancer: General Population vs High risk ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
Lynch Syndrome:  hereditary colon cancer syndrome ,[object Object],[object Object],[object Object],[object Object]
Lynch Syndrome: Cancer risks Aarnio M et al.  Int J Cancer  64:430, 1995  % with cancer 100 80 60 40 20 0 20 40 60 80 0 Age (years) Colorectal 80% Endometrial 40-60%  Stomach  19% Biliary Tract  18% Urinary Tract  10% Ovarian  12%
Lynch Syndrome: Screening ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],Early Detection/Cancer prevention
Empowering or Endangering the public? Direct to Consumer Genetic Testing:  Exploiting widespread misunderstanding of genetic determinism
The FDA notes that patient risks include "missed diagnosis, wrong diagnosis, and failure to receive appropriate treatment." Consumer watchdogs and FDA
[object Object],[object Object],[object Object],[object Object],Future of genetic testing and Cancer ,[object Object],[object Object],[object Object]

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Genetics of Cancer

  • 1. Talia Donenberg, M.S., C.G.C. Board Certified Genetic Counselor Center for Cancer Prevention and Genetics University of Miami/Jackson Health System Can we prevent cancer?
  • 2.
  • 3.
  • 4. About 2-15% of most adult cancers have a strong inherited basis How Common is Hereditary Cancer?
  • 5. Lynch HT et al. JSO 2005 Importance of Family History
  • 6.
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  • 9.
  • 10.
  • 11. Medical Management Options Positive Genetic Test result Possible testing for other adult relatives Increased surveillance Prophylactic surgery Lifestyle changes Chemo- prevention
  • 12.
  • 13. Breast Cancer Genes BRCA1 BRCA2 Other Genes
  • 14.
  • 15.
  • 16.
  • 17.
  • 18.
  • 19. Lynch Syndrome: Cancer risks Aarnio M et al. Int J Cancer 64:430, 1995 % with cancer 100 80 60 40 20 0 20 40 60 80 0 Age (years) Colorectal 80% Endometrial 40-60% Stomach 19% Biliary Tract 18% Urinary Tract 10% Ovarian 12%
  • 20.
  • 21. Empowering or Endangering the public? Direct to Consumer Genetic Testing: Exploiting widespread misunderstanding of genetic determinism
  • 22. The FDA notes that patient risks include "missed diagnosis, wrong diagnosis, and failure to receive appropriate treatment." Consumer watchdogs and FDA
  • 23.