Familial cancer syndromes

Gatekeepers - directly regularte tumours gene growth - division and death RB1, APC

Care takers - improve genetic stability p53, BRCA1/2, PARP1

Landscape - control surrounding area APC

 

Familial Adenomatous Polyposis

• APC tumour supressor gene
• Autosomal dominant
• 100% risk of bowel adenoma

 

Hereidtary Nonpolyposis Colorectal Cancer (Lynch syndrome)

• MLH1, MLH2, MSH6, PMS2, EPCAM
• Autosomal dominant inheritance
• 20-80% risk of bowel adenoma
• DNA mismatch reapir (microsatelites)

 

BRCA1/2 mutations 

• DNA repair genes
• Breast, ovaries, prostate, pancreatic
• Autosomal dominant 

 

Li Fraumeni Syndrome

• p53 mutations
• Autosomal dominant
• Breast, sarcoma, brain, adrenalcortical, leukaemia