The Aftermath of Angelina Jolie`s Decision

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The Aftermath of Angelina Jolie`s Decision
Alison K. Bonk, ACNP-BC, MSN OCN
Sylvia S. Estrada, DNP, MSN, MSHCM, WHNP-BC, CBCN
Sherry Goldman, NP, MSN, CBCN
Cedars-Sinai Medical Center
Saul and Joyce Brandman Breast Center
Samuel Oschin Comprehensive Cancer Institute
Los Angeles, CA
Incidence
 99% occur in women
 1% occur in men
 1 in 8 women may develop breast cancer (lifespan 85)
 2014 estimated 229,060 new cases
 Slight decrease in mortality in older women
 Rose steadily in 1970s and 1980s, then leveled off
which may be due to early detection and improved
treatment.
Types of Breast Cancer
 Invasive ductal carcinoma
 Invasive lobular carcinoma
 Ductal carcinoma in situ
 Lobular carcinoma in situ
 American Cancer Society reported 232,340 new
invasive breast cancer cases in 2013
Molecular Sub-Types of Breast
Cancer
 Luminal A: 40% incidence
 Luminal B: 10-20% incidence
 Basal-like: 10-20% incidence, AKA “triple negative”
 HER2 enriched: 10% incidence
The Role of Biomarkers
RECIPE
Flour
Sugar
Va n i l l a
Butter
Eggs
TUMOR
ER
PR
Ki-67
P-53
Her2
Other Types of Breast Cancer
 Inflammatory Breast Cancer
 Medullary Carcinoma
 Metaplastic Carcinoma
 Mucinous Carcinoma
 Papillary Carcinoma
 Paget’s Disease
Male Breast Cancer
 Rare, 1% incidence rate
 Incidence rate increases with age
 Death rates have decreased 1.8% per year since 2000
Risk Factors
 Radiation exposure
 BRCA gene mutations
 Klinefelter Syndrome
 Testicular disorders
 Family history of breast cancer
 Obesity
Risk Factors for Breast Cancer
 Gender
 Age
 Race/Ethnicity
 Family History
 History of LCIS, ADH
 Reproductive history
 Genetic mutation
 Dense breast tissue
Modifiable Risk Factors for Breast
Cancer
 Obesity and Overweight
 ETOH
 Radiation to the chest
 Hormone Replacement Therapy (HRT)
 Lack of Physical Activity
 Poor diet
Why Does Family History Matter?
Current Recommendations for Risk
Assessments
 U.S. Preventative Task Force
 American Cancer Society
 National Comprehensive Cancer Network
 American Society of Clinical Oncology
 American College of Obstetrics and Gynecology
Your Family Tree Has Value
www.hhs.gov/familyhistory
What to Ask?
 Specific types of cancer
 Primary sites
 Which members were affected
 Age of diagnosis
 Did cancer recur
 Was the cancer bilateral
 Did they die of their cancer, and if so, age of death
 Make sure you include maternal and paternal relatives
Detailed Medical and Surgical History
 Personal cancer history
 Carcinogen exposure (ie, history of radiation therapy)
 Reproductive history
 Hormone use
 Previous breast biopsies
 History of salpingo-oophorectomy
Family History Screening
 Ontario Family History Assessment Tool
 Manchester Scoring System
 *Referral Screening Tool
 Pedigree Assessment Tool
 *FHS-7
Tools to Assess Risk of BRCA
Mutation
 Myriad Genetic Lab Model
 Couch Model
 BRCAPRO
 Tyrer-Cuzick
Breast Cancer Risk Assessment
Tools
 Gail Risk Model
 Claus Model
 Tyrer-Cuzick Model
 Highly recommended prior to testing
 Counseling may be done by genetic counselors, nurse
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educators, and other professionals
Includes a pedigree
Identify appropriate person to test
Probability risk score for BRCA mutation
Education about test results and their implications
Interpretation of test results
Outline health surveillance
Management Options for BRCA
Mutation Carriers
Surveillance
 Serial MRI + Mammogram q6 months (alternating vs.
at same time) beginning age 25. Due to radiation
exposure, may postpone mammogram until age 30.
 CBE 2-4 x/yr.
 SBE for knowledge of breast changes
 Gynecologic surveillance concurrently (serum Ca-125 +
transvaginal ultrasounds) 2x/yr.
Teller, P. & Kramer, R. (2010) Management of the asymptomatic BRCA
mutation carrier. The Application of Clinical Genetics; 3; 121-131
Teller, P. & Kramer, R. (2010) Management of the asymptomatic BRCA
mutation carrier. The Application of Clinical Genetics; 3; 121-131
Prophylactic Bilateral
Mastectomies
 Decreases risk of breast cancer by 90-95% (Reynolds et
al., 2011).
 Continued imaging typically not required unless
abnormality.
 CBE important aspect of follow-up.
Possible Complications
 Seroma
 Infection
 Edema
 Capsular contracture of implant
 Loss of implant
-Numbness results from surgery and must be reviewed
with the patient beforehand.
Nipple-sparing vs Non nipplesparing
 Retained breast ductal epithelium that could contain
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or develop neoplasm.
Improved cosmetic result with retained nipple.
Core the nipple
Risk of nipple necrosis
Due to oncologic risk, not typically recommended in
BRCA+ patients
Reynolds et al. (2011). Prophylactic and Therapeutic mastectomy in
BRCA mutation carriers: can the nipple be preserved? 18;3102-3109
Modified Radical Mastectomy
c/o Dr. Armando Giuliano
Implant Reconstruction
c/o Dr. Alice Chung
Nipple-sparing mastectomy
w/Tram Flap
c/o Dr. Alice Chung
Tram Flap Reconstruction
c/o Dr. Armando Giuliano
Prophylactic BSO
 Bilateral salpingo-oophorectomy
 50% risk reduction for breast cancer when done
premenopausally (Garcia et al., 2013).
 Surgical menopause

Hot Flashes, vaginal dryness, mood swings,
etc.
 Salpingectomy alone with delayed oophorectomy?

Currently researched, but not recommended
at this time.
Chemoprevention
- 2 studies by the National Surgical Adjuvant Breast and
Bowel Project (NSABP) show chemoprevention
effective in lowering risk of ER positive breast cancer
in women at high risk (by Gail Model).
- Not researched specifically in BRCA mutation carriers.
Medications for Chemoprevention
Tamoxifen
 Tamoxifen is a selective estrogen receptor modulator
(SERM) that has an inhibitory effect on estrogen
receptors (ERs).
 The preventive effect of tamoxifen has been evaluated
by looking at incidence of contralateral breast cancer
in BRCA1/2 mutation carriers who were treated with
tamoxifen after their primary breast cancer diagnosis.
Potential Side-Effects Tamoxifen
 Endometrial hyperplasia/cancer
 Thromoboembolic events
 Menopausal symptoms
 Cataracts
Tamoxifen
Of the cohort of healthy women:
 Healthy BRCA2+ individuals: risk reduction by 62%
relative to placebo [risk ratio = 0.38; 95% confidence
interval (CI) 0.66–1.56], similar to the reduction of ERpositive breast cancer among all women in the same
breast cancer prevention trial.
 In BRCA1+ individuals, no significant difference.
 Small sample size (of the 288 women in the study who
developed breast cancer, only 8 had BRCA1 mutations
and 11 had BRCA2 mutations).
Bonanni & Lazzeroni, (2013) Acceptability of chemoprevention
trials in high-risk subjects. Annals of Oncology; 24
Additional NSABP trial
 Raloxifene (SERM has been evaluated for
chemoprevention in post-menopausal women. (Not
BRCA+ specific).
 Raloxifene given for 7 yrs reduced incidence of invasive
breast cancer by 76%(ER+).
 Preventative for osteoporosis.
 Fewer side-effects than tamoxifen, but still risk for
thromboembolism.
Reimers, L. & Crew, K. D. (2012). Tamoxifen vs raloxifene vs exemestane for
chemoprevention. Current Breast Cancer Reports, 4(3); 207-215.
Aromatase Inhibitors?
 Currently in clinical trials for prevention, evaluating
exemestane.
 Considerations: Risk of osteoporosis, arthralgias,
menopausal symptoms.
 As with other chemoprevention options, lacks
evidence for effectiveness for ER negative tumors.
http://www.uptodate.com/contents/management-of-hereditary-breastand-ovarian-cancer-syndrome-and-patients-with-brca-mutations
What chemoprevention to utilize
Reimers, L. & Crew, K. D. (2012). Tamoxifen vs
raloxifene vs exemestane for chemoprevention.
Current Breast Cancer Reports, 4(3); 207-215.
Summary
 Surveillance utilizing MRI, mammogram, transvaginal
ultrasound, CA-125.
 Prophylactic mastectomies
 BSO
 Chemoprevention
Psychological Effects of BRCA
Positivity
 Anxiety
 Relief
 Strained family relationships
 Guilt
 Stress
 Concerns over health insurance discrimination
Living with BRCA +
 Rather not know
 Sadness, anxiety or anger
 Good coping mechanisms
 Prophylactic measures may not be urgent
 Understand ALL options
 Second opinion
 Proactive actions
 Establish a surveillance plan
The Angelina Effect
Impact of Going Public?
 <10% of survey responders had correct information
regarding testing
 Not associated with greater knowledge of breast cancer risk
 Increased awareness of HBOC testing
Recommendation
 Information should be better communicated to help
educate rather than alarm
Borzekowski, D. L., Y. Guan, K. C. Smith, L. H. Erby, and D. L. Roter, 2013, The Angelina effect: immediate
reach, grasp, and impact of going public, Genet Med.
References
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Bonanni & Lazzeroni, (2013) Acceptability of chemoprevention trials in high-risk subjects. Annals of Oncology 24
(suppl 8): viii42-viii46. doi: 10.1093/annonc/mdt328
Cragun, D., & Pal, T. (2013). Identification, evaluation, and treatment of patients with hereditary cancer risk within the
united states. ISRN Oncology, 2013; 8pgs.
Fatouros, M., Baltoyiannis, G., & Roukos, D. H. (2008). The predominant role of surgery in the prevention and new
trends in the surgical treatment of women with BRCA1/2 mutations. Annals of Surgical Oncology; 15(1) 21-33.
Garcia, C., Wednt, J., Lyon, L., Jones, J., Littell, R.D., Armstrong, M. A., Raine-Bennett, T., & Powell, C. B. (2014). Risk
management options elected by women after testing positive for a BRCA mutation. Gynecologic Oncology, 132(2):42833. doi: 10.1016/j.ygyno.2013.12.014.
Kwon, J. S., Tinker, A., Pansegrau, G., McAlpine, J., Housty, M., McCullum, M., & Gilks, C. B. (2013). Prophylactic
salpingctomy and delayed oophorectomy as an alternative for BRCA mutation carriers. Obstetrics & Gynecology, 121(1),
14-24.
Meltcalfe, K.A., Kim-Sing, C., Ghadirian, P., Sun, P., & Narod, S. A. (2013) Health care provider recommendations for
reducting cancer risks among women with a BRA1 or BRCA2 mutation. Clinical Genetics, 85(1), 21-30. doi:
10.1111/cge.12233.
Reimers, L. & Crew, K. D. (2012). Tamoxifen vs raloxifene vs exemestane for chemoprevention. Current Breast Cancer
Reports, 4(3); 207-215.
Reynolds et al. (2011). Prophylactic and Therapeutic mastectomy in BRCA mutation carriers: can the nipple be
preserved? 18;3102-3109
Teller, P., & Kramer, R. K. (2010). Management of the asymptomatic BRCA mutation carrier. The Application of Clinical
Genetics, 3; 121-131.