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The Surveillance and Management of Inherited Breast Cancer

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Title: The Surveillance and Management of Inherited Breast Cancer Risk Author: Shiva Sharma Last modified by: Peter Created Date: 10/23/2010 3:04:44 PM – PowerPoint PPT presentation

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Title: The Surveillance and Management of Inherited Breast Cancer


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

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 lt30 found to be
    carriers

8
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9
  • Major risk factors significantly increase risk
  • Once an major risk is identified minor factors
    add little

10
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11
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12
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 - gt10x
  • High penetrance gene mutation
  • Chest wall irradiation prior to 30

13
Average Risk
  • Accepted national screening programs
  • 40 in USA
  • 50 in UK and Ireland
  • Annual mammography and examination
  • Chemoprevention not indicated

14
Moderate Risk
  • Screening as in the average risk group
  • Patients should be acquainted with chemo
    preventative drugs

15
High Risk
  • Annual mammography
  • Semi-annual breast exam
  • Premenopausal Tamoxifen
  • Postmenopausal Tamoxifen or raloxifene

16
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

17
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

18
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

19
Genetic Testing
  • Guidelines for consideration of testing
  • Early age of onset
  • Multiple affected family members
  • 2 relatives diagnosed lt50
  • 2 ovarian cancer
  • Multiple primary cancers including breast and
    ovarian in 1 patient
  • Male breast cancer

20
Genetic Testing (2)
  1. Medullary and triple negative breast cancers more
    likely to be BRCA
  2. Ashkenazi Jewish descent or other ethnic groups
    with known mutations
  3. 1st and 2nd degree relatives with breast cancer
  4. Family history prostate, thyroid sarcoma,
    endometrial, adrenocortical, brain, pancreatic
    cancer

21
Management
  • Testing for known mutations
  • If negative, then move on to full sequence
    testing
  • Issue with Variation of Unknown Significance
  • Recommend careful surveillance

22
Management of Mutations
  • Careful lifetime follow-up
  • /- chemoprevention
  • /- risk reduction surgery

23
Breast Retaining Cases
  • Semi-annual exam
  • Annual mammography and annual MRI offset by
    6months

24
Surgical Management
  • Bilateral total mastectomy /- reconstruction
  • 95 effective
  • Timing of surgery should be offered to patients
    in late 30s, but before 50
  • Axillary SNB
  • Pre-op MRI, if negative, biopsy not indicated

25
Surgical Management
  • Prophylactic oophorectomy
  • 50 reduction in Breast cancer in BRCA patients
  • HRT can still be used for symptomatic relief

26
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

27
Conclusion
  • Genetic testing is a valuable investigation
  • Patient interest
  • Informing patients
  • Tailored treatment and follow-up
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