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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?”

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Why identify those at increased

risk of breast cancer?

“Should I be worried?”

Impacts management

Asymptomatic patient

Relatives

(Patients diagnosed with breast

cancer)

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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

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Patient assessment

• Other breast conditions

– Lobular neoplasia (ALH and LCIS) / ADH / ALH

– Breast density

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http://www.acr.org/News-Publications/News/News-Articles/2012/ACR-Bulletin/201210-Shedding-Light-on-Breast-Density

Patient assessment

• Other breast conditions

– Lobular neoplasia (ALH and LCIS) / ADH / ALH

– Breast density

• Increases relative risk by 4-6 times

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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)

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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

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What genes?

Gene mutation Other pathology Breast cancer lifetime

risk

BRCA1 Ovarian cancer (40%) 57%

BRCA2 Ovarian cancer (18%) male breast

cancer, prostate cancer, pancreatic

cancer

49%

PTEN (Cowdens) thyroid path, endometrial cancer, characteristic appearance

25-50%

Peutz-Jegher (STK11) Naevi, GI polyps, gynae, pancreas 45%

CDH1 Gastric cancer, lobular breast cancer

40%

P53 (Li-Fraumeni) Sarcoma, adrenal cancer, CNS

tumours

Increased relative risk

Overview

• Patient assessment

• Risk assessment tools

• Who requires specialist referral?

• Indications for genetic testing

• Management by risk stratification

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High risk criteria (NBOCC)

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Moderate risk

(up to 25% chance to the age of 75)

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L G, (L) L, (G) GL

Evans Br Cancer Res 2007

IBIS

Overview

• Patient assessment

• Risk assessment tools

• Who requires specialist referral?

• Indications for genetic testing

• Management by risk stratification

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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

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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

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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

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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

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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

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