Risk Assessment and Risk Management

Transcription

1 Risk Assessment and Risk Management Epworth Benign Breast Disease Symposium Dr Laura Chin-Lenn 12 November 2016 Why identify those at increased risk of breast cancer? Should I be worried? 1

2 Why identify those at increased risk of breast cancer? Should I be worried? Impacts management Asymptomatic patient Relatives (Patients diagnosed with breast cancer) 2

3 Overview Patient assessment Risk assessment tools Who requires specialist referral? Indications for genetic testing Management by risk stratification Overview Patient assessment Risk assessment tools Who requires specialist referral? Indications for genetic testing Management by risk stratification 3

4 Patient assessment Other breast conditions Lobular neoplasia (ALH and LCIS) / ADH / ALH Breast density 4

5 Patient assessment Other breast conditions Lobular neoplasia (ALH and LCIS) / ADH / ALH Breast density Increases relative risk by 4-6 times 5

6 Patient assessment Other breast conditions Reproductive factors potential decreased relative risk Parity (vs nulliparous) and number of children (>4) Age at birth of first child <25 YO Breastfeeding >12 months Patient assessment Other breast conditions Reproductive factors Other personal history Use of combined hormone replacement therapy (HRT) Radiation for Hodgkin s disease <30 years old High dose ionising radiation <20 years old (eg Chernobyl) In-utero exposure to DES (diethylstilbestrol) 6

7 Patient assessment Other breast conditions Reproductive factors Other personal history Family History - Primary cancer in relatives - 1 (parents, siblings, children) - 2 (aunts, uncles, nieces, nephews, grandparents) - Site of cancer and age at diagnosis - Genetic testing and gene mutations? - Update FH regularly How much breast cancer is genetic? 80% sporadic 10% strong family history but no specific mutation 10% related to mutation in susceptibility gene 7

8 What genes? Gene mutation Other pathology Breast cancer lifetime risk BRCA1 Ovarian cancer (40%) 57% BRCA2 PTEN (Cowdens) Ovarian cancer (18%) male breast cancer, prostate cancer, pancreatic cancer thyroid path, endometrial cancer, characteristic appearance 49% 25-50% Peutz-Jegher (STK11) Naevi, GI polyps, gynae, pancreas 45% CDH1 P53 (Li-Fraumeni) Gastric cancer, lobular breast cancer Sarcoma, adrenal cancer, CNS tumours 40% Increased relative risk Overview Patient assessment Risk assessment tools Who requires specialist referral? Indications for genetic testing Management by risk stratification 8

9 High risk criteria (NBOCC) 9

10 Moderate risk (up to 25% chance to the age of 75) 10

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12 IBIS L L G, (L) L, (G) G Evans Br Cancer Res 2007 Overview Patient assessment Risk assessment tools Who requires specialist referral? Indications for genetic testing Management by risk stratification 12

13 When to refer to a specialist? Refer patients with family history of: Multiple 1 or 2 relatives with breast or ovarian cancer Young (breast Ca < 50YO) More than one primary breast cancer in same woman Breast and ovarian cancer in same woman Male breast cancer Gene mutation identified FH or personal history suggestive of syndromes Overview Patient assessment Risk assessment tools Who requires specialist referral? Indications for genetic testing Management by risk stratification 13

14 Genetic referral resources Familial cancer clinic Patient provides information Verification of family history - pathology Funded testing offered if risk of having a mutation is calculated above a certain percentage If an affected family member is available for testing they would be tested first then others if gene positive Patient-funded testing 14

15 Overview Patient assessment Risk assessment tools Who requires specialist referral? Indications for genetic testing Management by risk stratification Management by risk Population risk (no increased risk) Modifiable risk factors Maintain healthy weight Limit alcohol intake Limit saturated fat intake Regular exercise Breastscreen Available to all above 40 y.o. Target range invitations to 50-74y.o. 2 yearly, 2 view, 2 reader Current recommendation for dense breasts is still two-yearly mammography 15

16 Management by risk Population risk Moderately increased risk on family history or breast lesion Annual mammography from 40 years old (Mammography every 2 years from 60YO) Consider chemoprevention Management by risk Population risk Moderately increased risk High risk Enhanced surveillance / early detection MRI Medicare eligible if <50YO and NBOCC high risk MMG after 35 years old 16

17 Management by risk Population risk Moderately increased risk High risk Enhanced surveillance / early detection Prevention Chemoprevention - tamoxifen Surgical risk reduction Risk reducing mastectomy (usually with immediate reconstruction) decreases risk by 95% - BRCA before 40 or after childbearing complete Oophorectomy Ovarian cancer risk management (if gene carrier) Consider risk reducing bilateral salphingo-oophorectomy after 40YO Summary Multiple personal and familial factors increase the risk of breast cancer in an individual Taking a good history is invaluable in assessing this risk and the need for specialist referral 17

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