CCG Flashcards
What are the two types of cancer mutations?
→constitutional germline
→somatic
Compare germline mutations and somatic mutations
→germline and somatic inform inform treatment decision
→germline and somatic inform family members
→Germline informs future cancer risk
What is family history used for in clinical cancer?
→as a proxy of risk
Describe polygenic familial risk
→Risk conferred through multiple lower risk genetic factors +/- environmental factors
→No current testing available
→No single high risk gene identified
What distribution does polygenic disease follow?
→normal distribution
On a normal distribution graph, where is familial risk associated with?
→shifted to right hand side
Why identify patients with increased genetic predisposition to cancer?
→Informs medical management and surgical options
→Informs relatives about cancer risk –access to screening / risk reducing surgery
→Provides reason for why developed cancer
→Informs patient about future cancer risk
How can we identify patients with increased genetic predisposition to cancer?
→Family history
→Tumour testing
→Syndromic features eg features in tumour
→Pathology of cancer
When are breast cancers most common?
→post menopausal
What are polygenic risk scores?
→Genetic testing of multiple low risk factors
→indicate increased genetic susceptibility to cancer
How are polygenic risk scores calculated?
→cancer associated SNPs found from Genome Wide Association Studies
What are two common syndromic features of cancer?
→Mucocutaneous pigmentation
→Trichilemmoma- Causden syndrop
What is the stratified prevention strategy?
→categorisation of the population into multiple groups with different interventions applied in the different groups
What are CPGs?
→cancer predisposition genes
What is involved in Screening, Prevention and Early Detection (SPED)?
→Mammograms
→Colonoscopies
→Chemoprevention