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Surveillance & Management of Inherited Breast Cancer Overview

Learn about increased risk groups, genetic testing, and tailored treatment options for managing inherited breast cancer. Understand the major and minor risk factors, high penetrant mutations like BRCA1/2, and the importance of genetic testing in management & surveillance.

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Surveillance & Management of Inherited Breast Cancer Overview

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  1. Shiva Sharma SHO to Professor Redmond The Surveillance and Management of Inherited Breast Cancer

  2. Overview • Introduction • Increased risk groups • Consideration of genetic testing • Management of patients with mutation • Follow-up

  3. Introduction • Lifetime average risk 1 in 8 • Approximately 184,450 breast cancer cases in USA • 5-10% due to high penetrance gene carrying patients • Breast Cancer gene first identified 1990 • BRCA 1/2 mutations found to be 1 in 250-500 • Increased prevalence in some ethnic groups • Specific screening consideration given to those classified as increased risk • Tailored treatment options for inherited risk groups

  4. Increased Risk Patients • Risk factor: variable increasing the chances of developing breast cancer from the average population • Major risk factors – double the risk • Minor risk factors – risk between 1.0-2.0

  5. High Penetrant Mutations • BRCA 1/2, PTEN, Tp53 • Tumour suppressor genes coding for DNA repair • Accounts for 5-10% breast cancers • Young age of diagnosis • Aim is to recognise individuals early to reduce morbidity/mortality

  6. Characteristic history • Large number affected family • Young age of diagnosis • Multiple cancers in one person • Uncommon cancers • Common cancers at younger age

  7. BRCA 1 and 2 • Tumour suppressor gene • 85% lifetime risk of Breast cancer • Found in 45% of families with multiple cases • 90% of families with both breast and ovarian cancer • Frequency 1/250-500 • More common in Ashkenazi Jewish population • 20-25% of cases where woman <30 found to be carriers

  8. Major risk factors significantly increase risk • Once an major risk is identified minor factors add little

  9. Risk Categories • Average Risk – the general population • Moderate Risk – increased risk for age group, but less than 5x • High Risk – 5-10x • LCIS, ADH, ALH • First degree relatives without mutation • Very High Risk - >10x • High penetrance gene mutation • Chest wall irradiation prior to 30

  10. Average Risk • Accepted national screening programs • 40 in USA • 50 in UK and Ireland • Annual mammography and examination • Chemoprevention not indicated

  11. Moderate Risk • Screening as in the average risk group • Patients should be acquainted with chemo preventative drugs

  12. High Risk • Annual mammography • Semi-annual breast exam • Premenopausal – Tamoxifen • Postmenopausal – Tamoxifen or raloxifene

  13. High Risk (2) • Woman with strong family history without BRCA mutation • MRI with annual mammography • Screening 10years before youngest diagnosed family member or 40 • Twice yearly breast exam • Consider chemoprevention

  14. Very High Risk • History of irradiation • Annual mammography starting 5-10years after treatment • Annual MRI consideration • Semi-annual exam • Consideration for chemoprevention and risk reduction surgery

  15. Very High Risk (2) • BRCA 1/2, PTEN, Tp53 mutations highly penetrant genes • Genetic testing in children only for suspected p53 mutation • BRCA mutation testing not before 25

  16. Genetic Testing • Guidelines for consideration of testing • Early age of onset • Multiple affected family members • 2+ relatives diagnosed <50 • 2+ ovarian cancer • Multiple primary cancers including breast and ovarian in 1 patient • Male breast cancer

  17. Genetic Testing (2) • Medullary and triple negative breast cancers more likely to be BRCA • Ashkenazi Jewish descent or other ethnic groups with known mutations • 1st and 2nd degree relatives with breast cancer • Family history prostate, thyroid sarcoma, endometrial, adrenocortical, brain, pancreatic cancer

  18. Management • Testing for known mutations • If negative, then move on to full sequence testing • Issue with Variation of Unknown Significance • Recommend careful surveillance

  19. Management of Mutations • Careful lifetime follow-up • +/- chemoprevention • +/- risk reduction surgery

  20. Breast Retaining Cases • Semi-annual exam • Annual mammography and annual MRI offset by 6months

  21. Surgical Management • Bilateral total mastectomy +/- reconstruction • 95% effective • Timing of surgery should be offered to patients in late 30’s, but before 50 • Axillary SNB • Pre-op MRI, if negative, biopsy not indicated

  22. Surgical Management • Prophylactic oophorectomy • 50% reduction in Breast cancer in BRCA patients • HRT can still be used for symptomatic relief

  23. Follow Up • Life time follow up for BRCA mutations • Gynaecology follow up with pelvic examination annually • Continued follow-up even if prophylactic mastectomy and oophorectomy performed

  24. Conclusion • Genetic testing is a valuable investigation • Patient interest • Informing patients • Tailored treatment and follow-up

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