DrTerespolsky

Hereditary Breast & Ovarian Cancer Debbie Terespolsky Clinical Geneticist

Common question ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]

Objectives ,[object Object],[object Object],[object Object],[object Object]

All cancer is genetic ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]

Mutations causing cancer ,[object Object],[object Object],[object Object]

Tumour suppressor genes ,[object Object],[object Object],[object Object]

Sporadic cancer At birth 30 – 50 years 50 – 70 years

2-hit hypothesis At birth 30 – 50 years 50 – 70 years

2-hit hypothesis ,[object Object],[object Object],[object Object]

BRCA1 and BRCA2 ,[object Object],[object Object],[object Object],[object Object]

Breast cancer ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]

Ovarian Cancer ,[object Object],[object Object]

Familial clustering ,[object Object],[object Object],[object Object],[object Object],[object Object]

Hereditary susceptibility to breast cancer 30 - 70 UNDISCOVERED <1 PTEN CHEK2 <1 TP53 10 - 30 BRCA2 20 - 40 BRCA1 % CONTRIBUTION GENE

BRCA1 ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]

BRCA1 ,[object Object],[object Object],[object Object],[object Object],[object Object]

BRCA2 ,[object Object],[object Object],[object Object],[object Object],[object Object]

BRCA2 ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]

BRCA1 and BRCA2 ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]

BRCA2 ,[object Object],[object Object],[object Object],[object Object]

Likelihood of BRCA1 Mutation ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]

Clinical relevance ,[object Object],[object Object]

Clinical characteristics of individuals with BRCA1/2 mutations ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]

Clinical characteristics of individuals with BRCA1/2 mutations ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]

Clinical characteristics of individuals with BRCA1/2 mutations ,[object Object],[object Object],[object Object]

Ductal carcinoma in-situ ,[object Object],[object Object],[object Object]

Referral to Genetics ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]

Issues for patients and families ,[object Object],[object Object],[object Object],[object Object],[object Object]

Who is eligible for testing ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]

Best testable ,[object Object],[object Object]

Genetic testing ,[object Object],[object Object],[object Object],[object Object]

Genetic testing ,[object Object],[object Object],[object Object]

Results ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]

Management for BRCA carriers ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]

Risk reduction ,[object Object],[object Object],[object Object],[object Object],[object Object]

Cancer Br @ 33,35 Br @68, 69 2 ovarian 3 Br, died at 33

63 40 Cancer Br @62 2 Br @46 2 Stroke @82 2 Ov Abd MI @76

63 40 Cancer Br @62 2 Br @51 2 Stroke @82 2 cervical stomach MI @76

42 40 35 dx57 dx40’s 38 3 65 69 2 65 62

Multidisciplinary team ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]

Family physician’s role ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]

Perspective ,[object Object],[object Object]

Management: general population ,[object Object],[object Object],[object Object]

The Future ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]

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