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Shiva Sharma SHO to Professor Redmond Introduction Increased risk groups Consideration of genetic testing Management of patients with mutation Follow-up 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 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 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 Characteristic history Large number affected family Young age of diagnosis Multiple cancers in one person Uncommon cancers Common cancers at younger age 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 Major risk factors significantly increase risk Once an major risk is identified minor factors add little 1. 2. 3. Average Risk – the general population Moderate Risk – increased risk for age group, but less than 5x High Risk – 5-10x 4. LCIS, ADH, ALH First degree relatives without mutation Very High Risk - >10x High penetrance gene mutation Chest wall irradiation prior to 30 Accepted national screening programs 40 in USA 50 in UK and Ireland Annual mammography and examination Chemoprevention not indicated Screening as in the average risk group Patients should be acquainted with chemo preventative drugs Annual mammography Semi-annual breast exam Premenopausal – Tamoxifen Postmenopausal – Tamoxifen or raloxifene 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 History of irradiation Annual mammography starting 5-10years after treatment Annual MRI consideration Semi-annual exam Consideration for chemoprevention and risk reduction surgery BRCA 1/2, PTEN, Tp53 mutations highly penetrant genes Genetic testing in children only for suspected p53 mutation BRCA mutation testing not before 25 1. 2. Guidelines for consideration of testing Early age of onset Multiple affected family members 3. 4. 2+ relatives diagnosed <50 2+ ovarian cancer Multiple primary cancers including breast and ovarian in 1 patient Male breast cancer 5. 6. 7. 8. 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 Testing for known mutations If negative, then move on to full sequence testing Issue with Variation of Unknown Significance Recommend careful surveillance Careful lifetime follow-up +/- chemoprevention +/- risk reduction surgery Semi-annual exam Annual mammography and annual MRI offset by 6months 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 Prophylactic oophorectomy 50% reduction in Breast cancer in BRCA patients HRT can still be used for symptomatic relief Life time follow up for BRCA mutations Gynaecology follow up with pelvic examination annually Continued follow-up even if prophylactic mastectomy and oophorectomy performed Genetic testing is a valuable investigation Patient interest Informing patients Tailored treatment and follow-up