Cancer Genetics Workshop - Module 1

Course objectives: Module 1

Familial cancer syndromes:

- Germline pathogenic variants and cancer risk

- Knudson 2 hit hypothesis

- Somatic vs germline testing

Relevant family history taking and red flags

Referral guidelines /risk assessment tool

Testing strategy in the context of the family

Genetic Counselling process:

- Diagnosis confirmed: Risk estimation

- Predictive testing

Ethics in Genetics 1:

Informed consent, autonomy, discrimination, confidentiality

Incidental findings

Choosing a genetic test:

- Founder mutations

- Comprehensive BRCA1 and BRCA2

- Multiple gene panels

- Targeted testing vs panels

- WES, WGS (research vs diagnostic: clinical utility)

- Invitae website navigation