Breast Cancer Risk Assessment: How and Why
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Cancer genetic testing and risk assessment overview. This slide deck was the basis of a presentation to nurse practitioners and genetic counselors who are actively identifying and managing women at high risk of breast and ovarian cancer.
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Breast Cancer Risk Assessment: How and Why
- 1. Cancer Risk Assessment The Why and How for Affected and Unaffected Patients Kevin S. Hughes, MD, FACS Founder: Hughes RiskApps.LLC Co-Director, Avon Comprehensive Breast Evaluation Center Massachusetts General Hospital Associate Professor of Surgery Harvard Medical School Medical Director Bermuda Cancer Genetics and Risk Assessment Clinic KsHughes@HughesRiskApps.Com
- 2. Why evaluate risk Not identifying high risk individuals will lead to unnecessary morbidity and death
- 3. Cancer Risk Breast 50-87% 50-87% Ovary 40-60% 10-20% Breast 6% F e m a l e M a l e BRCA1 BRCA2
- 4. Hereditary vs Sporadic Cancer Knudson’s2hithypothesis HEREDITARY CANCER SPORADIC CANCER
- 5. 18 years of BRCA testing Female Carriers in the US ~560,000 to 720,000 Carriers found ~70,000, mostly affected 95% of unaffected carriers remain unaware and mismanaged
- 6. More genes to test for: Breast
- 7. • 1781 HBOC patients • 25-Gene Panel (MyRisk) – 13.5% had a mutation • 9.3% in BRCA 1 or 2 • 4.2% in at least one other gene More genes to test for: Breast Tung et al ACMG2014
- 8. More genes to test for: Ovary
- 9. More genes to test for: Ovary • 360 women • Ovarian • Primary peritoneal • Fallopian tube cancer • 21 gene panel (12 found) • 24% had a mutation – 18% BRCA 1/2 – 6% another gene • 30% carriers had no family history • 35% of patients were > 60 y.o. University of Washington Walsh et al 2011
- 10. Significance and Management by mutation
- 11. Prevalence and Penetrance for breast cancer genes http://www.ambrygen.com/sites/default/files/pdfs/canc er%20forms/BreastNext_WhitePaper_100412.pdf
- 12. If you think you can’t keep up with all this… Don’t worry! No one else can either!
- 13. The human brain is approaching its limit Yet we continue to practice memory based medicine Crane, Raymond, The Permanente Journal 7:62, 2003
- 14. Yoo et al. BMC Bioinformatics 2007 8(Suppl 9):S4 Knowledge is growing exponentially
- 15. Articles published on Breast Cancer Genetics 4335 articles in 2012
- 16. Disorders with genetic tests available GeneTests 2014
- 17. Clinical Decision Support (CDS) •Apply Models/Guidelines to patient data •Identify best course of action •Results displayed as intuitive Visualizations BRCAPRO Mutation Risk 25% BRCAPRO Mutation Risk 25% Consider Genetic Testing
- 18. Opposing viewpoints defined in the 1950’s • Artificial Intelligence (AI) – The computer would replace humans • Intelligence amplification (IA) – Computers have strengths and weaknesses – Humans have strengths and weaknesses – Humans working with computers are: “Better...stronger...faster” “We have the technology”
- 19. Mechanical Amplification • Human 3 miles/hour • Human plus bike 20 miles/hour • Human plus car 60 miles/hour
- 20. Intelligence Amplification • Human – Talk to patient, gather data – Draw pedigree and eyeball – Counsel • Human plus computer – Human Talk to patient, gather data – Computer Run risk models/guidelines – Computer Draw pedigree, visualizations – Human Synthesize, counsel patient
- 21. High Risk Program • Identify women at high risk • Breast imaging, Primary Care, Oncology, OB/GYN • High Risk Clinic/System • Manage women needing – Genetic testing – More intensive screening – Chemoprevention
- 22. • Risk of mutation – BRCA testing • Risk of developing breast cancer – MRI – Chemoprevention – Personalized screening ID High Risk
- 24. Hereditary Hormonal Pathologic Risk Factors Breast cancer Age diagnosed Ovarian Cancer Age diagnosed Male breast cancer Age diagnosed Degree relative Age all relatives Genetic testing Height BMI Parous vs nulliparous Age first live birth Age menarche Age menopause HRT years used HRT intended use years Combined vs estrogenNumber of biopsies Atypical hyperplasia LCIS Tumor markers
- 27. Age Vital Status Cancer status Age diagnosis Ethnicity/Religion Genetic testing Risk Factors Eyeball
- 28. Eyeball Multiple relatives affected Young age at diagnosis Multiple primary cancers Unusual Cancer Male breast cancer
- 29. ID High Risk Eyeball the pedigree Models Guidelines
- 31. USPSTF for BRCA testing 2013 USPTF Ann Intern Med 2013 Guidelines by Tools • If positive by any of the following tools – Ontario Family History Assessment Tool – Manchester Scoring System – Referral Screening Tool – Pedigree Assessment Tool – FHS-7
- 33. 33 Women Most Highest risk Current Breast Cancer Screening Guidelines: • American Cancer Society (ACS) • National Comprehensive Cancer Network (NCCN) >20% risk of breast cancer (Tyrer Cuzick, BRCAPRO, Claus) Guidelines by Models
- 34. ID High Risk Eyeball the pedigree Models Guidelines
- 36. Hereditary Hormonal Risk Mutation Myriad Genetic Testing Pathologic Risk Mutation & Risk Breast Ca Risk Breast Ca Claus Chemoprevention MRI Personalized screening Gail Chemoprevention Personalized screening BRCAPRO Genetic Testing Chemoprevention MRI Personalized screening Tyrer Cuzick Genetic Testing Chemoprevention MRI Personalized screening
- 38. George Edward Pelham Box 1919 –2013) British mathematician/Professor of Statistics at the University of Wisconsin All models are wrong
- 39. George Edward Pelham Box 1919 –2013) British mathematician/Professor of Statistics at the University of Wisconsin All models are wrong, but some are useful
- 40. Hereditary • Breast cancer • Age diagnosed • Ovarian Cancer • Age diagnosed • Male breast cancer • Age diagnosed • Degree relative • Age all relatives • Genetic testing Hormonal • Height • BMI • Parous vs nulliparous • Age first live birth • Age menarche • Age menopause • HRT years used • HRT intended use years • Combined vs estrogen Pathologic • Number of biopsies • Atypical hyperplasia • LCIS • Tumor markersBRCAPRO
- 42. Woman Vs. Machine 148 pedigrees BRCAPRO Vs NPs and GCs
- 44. You cannot have a highly trained NP or GC see every patient You can run risk models on every patient
- 45. Genetic Consultation Patient Referral Patient enters data Risk Calculations MRI Options to find high risk
- 48. Quick and easy risk calculations Hughes RiskApps Express Thru HughesRiskApps.Com
Editor's Notes
- CHEK2 is the most common other gene to have mutations
- 18% had BRCA mutation
- Similar guidelines have been published elsewhere, including in the United Kingdom by the National Institute for Clinical Excellence
- Similar guidelines have been published elsewhere, including in the United Kingdom by the National Institute for Clinical Excellence