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Genetics of Cancer
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Genetics of Cancer

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Talia Donenberg of Sylvester Comprehensive Cancer Center discussed the genetics of cancer prevention at the 2011 WellBeingWell Conference in Miami.

Talia Donenberg of Sylvester Comprehensive Cancer Center discussed the genetics of cancer prevention at the 2011 WellBeingWell Conference in Miami.

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Genetics of Cancer Genetics of Cancer Presentation Transcript

  • 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?
    • Understanding Hereditary risk
      • Who is at high risk?
    • Genetic testing
      • When is it helpful? How does it help?
      • Implications of genetic testing
      • How can we apply this knowledge to
      • early detection, prevention and/or treatment ?
    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?
        • Genetic knowledge
        • early detection
        • risk reduction strategies
      • PREVENTION!
  • 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
    • List relatives with Cancer
      • Age diagnosed
    • Identify Primary Site
    • Clarify “female” cancers
    • Clarify benign conditions
    • Collect Medical Records
    Sifting through the family tree
  • When to Suspect an Inherited Cancer Syndrome
    • Cancer in 2 or more close relatives (same side of family)
    • Early age at diagnosis (under 50)
    • Multiple cancers in one person
    • Bilateral or rare cancers
    • Combination of cancers consistent with known syndrome (eg, colon-uterine; breast/ovarian)
    • Consistent with known patterns of inheritance
  • Indication for Genetic Counseling
    • Male Breast Cancer
    • Pheochromocytoma
    • Medullary Thyroid Cancer
    • Adreno-cortical cancer
    • 20+ Colon Polyps
    • Bilateral Cancers
    • Breast Cancer < 45
    • Colon Cancer <45
    • Uterine Cancer <45
    • Sarcoma <40
    • Any Ovarian or Fallopian Tube Cancer
    • Multiple primaries
    Without Family History
  • Genetic Counselors can help with:
    • Evaluate: family history, medical records, assess risks
    • Educate: Basics of inheritance and cancer syndromes
    • Order: Appropriate genetic testing (Identify best person to test)
    • Interpret : genetic test results
    • Help: families understand /make decisions about medical options
  • If your personal or family history suggests an inherited cancer syndrome How is gene testing done?
    • Genetic Counseling
    • Informed Consent
    • Collect DNA
    • Mouthwash or blood sample
  • Medical Management Options Positive Genetic Test result Possible testing for other adult relatives Increased surveillance Prophylactic surgery Lifestyle changes Chemo- prevention
    • 10% of women are diagnosed with breast cancer
    • 20% have a family member with breast cancer
    • 5-8% have a gene mutation
    • 2-3% have a strong family history
    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
    • Breast Cancer (under 50) 80%
    • Bilateral Breast Cancer 60%
    • Ovarian Cancer 20-60%
    • Breast and ovarian in the same person
    • Male Breast Cancer 1-6%
    • Prostate Cancer 20-30%
    • Pancreatic Cancer 4-7%
    • Ethnic backgrounds
      • Eastern/Central European Jewish, Bahamian , Polish, French Canadian
    BRCA1/BRCA2 lifetime risk
  • What options do BRCA carriers have?
        • Begin screening with more thorough tests at earlier ages
          • Breast MRI, Ultrasound for ovaries
        • Consider medications to reduce cancer risks
          • Tamoxifen and Evista (breast)
          • Birth Control Pills (ovarian)
        • Consider surgical prevention
          • Ovaries 96% risk reduction
          • Mastectomy 95% risk reduction
        • Encourage other family members to seek counseling
        • Enroll in research studies
  • Targeted Treatment for Hereditary cancers
    • Platinum agents
      • Ovarian cancer studies show better survival in BRCA carriers (Cass et al 2003)
      • Preliminary breast studies show high percentage of response in neoadjuvant studies (Byrski et al)
    • PARP-1 inhibitors
      • Clinical trials for both breast and ovarian cancer
    • Combination Platinum and Parp-1 inhibitors
  • Colon Cancer: General Population vs High risk
    • 6% general population risk
    • 20% of people with colon cancer have family history
    • 5-10% of colon cancer results from strong inherited susceptibility
    • Screening colonoscopy:
    • Family history of colon cancer
        • If no gene involved, then start
        • 10 years under earliest diagnosis in family
  • Lynch Syndrome: hereditary colon cancer syndrome
    • Early but variable age at CRC diagnosis (~45 years)
    • Early Age onset Polyps <40
    • Tumor site in proximal colon predominates
    • Extracolonic cancers : endometrium, ovary, stomach, urinary tract, small bowel, bile ducts, sebaceous skin tumors
  • 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
      • Colonoscopy at 20-25 every 1-2 yrs
      • Gynecologic screening (uterus and ovaries)
        • Ultrasound annually at 25-30 annually
        • CA-125 annually
      • Upper endoscopy every 3 years
      • Urine cytology and ultrasound
      • Dermatologic screening
    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 &quot;missed diagnosis, wrong diagnosis, and failure to receive appropriate treatment.&quot; Consumer watchdogs and FDA
    • If your family history is strong ,
      • more thorough testing may
      • be considered
      • New gene discoveries…
    Future of genetic testing and Cancer
    • Keep your family history updated
    • Follow up annually with your doctor and genetic counselor
    • Knowledge of genetics in medicine is constantly improving