WHAT DO GENES HAVE TO DO WITH IT? Breast Cancer Risk Assessment and Risk Reduction in 2016

Transcription

1 WHAT DO GENES HAVE TO DO WITH IT? Breast Cancer Risk Assessment and Risk Reduction in th Annual CANP Educational Conference March 17 20, 2016 Collaborate. Educate. Advocate. Karen Herold, DNP, WHCNP-BC, FNP-BC Hoag Memorial Hospital Presbyterian

2 How many women will develop breast cancer in their lifetime?

3 Breast Cancer Breast Cancer 1 in 8 (12%)(SEER) >92% 5 year survival detected early

4 Early Detection When diagnosed early > 92% five year survival rate for women who are diagnosed with breast cancer Importance of early detection and awareness of elevated risk

5 Understanding Risk and Family History What does Family History Have to do with it? Does maternal and paternal side matter?

6 Understanding Levels of Risk Average Risk : No 1st degree relative with breast or ovarian cancer or otherwise strong family history of either, no history of breast biopsies Elevated: 1st degree relative with breast or ovarian cancer or otherwise strong family history of either, personal history of abnormal breast biopsy High Risk: Diagnosed gene mutation associated with breast or ovarian cancer: BRCA 1, BRCA 2, PTEN etc. Untested, but have a first degree relative with a diagnosed gene mutation

7 What does risk Really Mean? Average Risk:12% Lifetime Elevated Risk:>20% (Lifetime)/ > 1.67 (5 year) High Risk:40-80% lifetime Gail Risk Assessment Model Tyrer Cuzick Model National Cancer Institute (NCI)

8 Gail Risk Assessment Model

9 What does Risk Have to do with it? Average-lifestyle recommendations, annual mammogram, annual CBE Elevated-lifestyle recommendations, annual mammogram, annual CBE. Consider: genetic counseling, +/- testing, risk reducing medication, annual MRI, every 6 month CBE High-same as elevated risk and consider prophylactic mastectomy

10 Genetics and Cancer All cancers are genetic BUT Not all cancers are hereditary

11 Genetic breakdown of Breast Cancer

12 Sporadic Cancer

13 Familial Cancer

14 Hereditary Cancer

15 High Penetrance Breast Cancer Susceptibility Genes Condition Gene (s) Breast Cancer Risks Other Associated Cancers Hereditary Breast /Ovarian Cancer (HBOC) Li-Fraumeni syndrome BRCA1 & BRCA % by age % lifetime TP53 56% by age 45 > 90% lifetime Ovarian, prostate, pancreatic, melanoma Soft tissue sarcoma, brain tumor, leukemia, osteosarcoma, adrenal tumors Cowden Syndrome PTEN 30-50% lifetime Thyroid, endometrial Peutz-Jeghers Syndrome Heditary Diffuse Gastric Cancer (HDGC) STK11 8% by age 40 32% by age 60 CDH1 (lobular) 39% lifetime Colorectal, gastric, endometrial Diffuse gastric cancer

16 Features that Indicate Increased Likelihood of Having BRCA mutations Early onset breast cancer (< age 50) Triple negative breast cancer (ER/PR/Her2) Multiple cases of breast and/or ovarian cancer on the same side of the family Breast and ovarian cancer in the same woman Bilateral breast cancer (at least one < 50) Male family member with breast cancer Ashkenazi Jewish ancestry and breast, ovarian or pancreatic Family member with BRCA related cancer

17 What about other Genetic Risk Syndromes? Further explore history if: Pancreatic, prostate, colorectal, ovarian, melanoma, soft tissue sarcoma, brain cancer, adrenal cancer, thyroid cancer, endometrial cancer, colorectal cancer, gastric cancer AND breast cancer

18 Genetic Counseling and Testing Refer patient if: Early onset breast cancer (< age 50) Triple negative breast cancer (ER/PR/Her2) Multiple cases of breast and/or ovarian cancer on the same side of the family Breast and ovarian cancer in the same woman Bilateral breast cancer (at least one < 50) Male family member with breast cancer Ashkenazi Jewish ancestry Family member with BRCA related cancer Genetic Testing

19 Cancer Risk Reduction Exercise Regularly Maintain a Healthy Bodyweight Limit Alcohol Intake

20 Cancer Risk Reduction (cont.) Reduce Fat Intake Lean Proteins-avoid red meat HRT 5 Fruits and Vegetables

21 Breast Self Exam Know your Normal After 2-3 weeks visit your clinician if changes persist: Hard, fixed lump, nipple discharge, nipple inversion, itching or rash, peeling or scaling, swelling, warmth, redness, contour change or puckering 80% of lumps are not cancerous (Cancer.org)

22 Well Woman Exam Annual Exam-complete and update family and personal history Annual Breast Exam Annual pelvic exam beginning at age 21 Annual mammogram beginning at 40 or 10 years before cancer diagnoses of family member

23 Case Study S.A. SA age 52 presents for annual screening mammogram mother breast cancer 53, sister breast cancer 52

24 Case study CD CD age 46 presents for annual screening mammogram Mom breast cancer at 65, died at 67, paternal aunt breast cancer 56, died at 57

25 References American Cancer Society (ACS). Available at: Brierley KL, Campfield D, Ducaine W, Dohany L, Donenberg T, Shannon K, Schwartz RC, Matloff ET. Errors in delivery of cancer genetics services: implications for practice. Comm Med. 2010;74: National Cancer Institute (NCI). BRCA1 and BRCA2: Cancer Risk and Genetic Testing. Available at: National Cancer Institute (NCI). NCI Breast Cancer Risk Assessment Tool. Available at: National Cancer Institute (NCI). NCI Breast Cancer Risk in American Women. Available at: National Comprehensive Cancer Network (NCCN). NCCN Clinical Practice Guidelines in Oncology: Breast cancer screening and diagnosis V Available at: National Comprehensive Network (NCCN). NCCN Clinical Practice Guidelines in Oncology. Genetic/ familial high-risk assessment: breast and ovarian. V Available at: SEER Cancer Statistics Review (2012). Cancer.org (2014) United States Census Bureau. Available at: