Some of the more commonly occurring genetic conditions occurring in surgical patients are presented here.

Li-Fraumeni Syndrome

• Autosomal dominant
• Consists of germline mutations to p53 tumour suppressor gene
• High incidence of malignancies particularly sarcomas and leukaemias
• Diagnosed when:

^ Individual develops sarcoma under 45 years

^ First degree relative diagnosed with any cancer below age 45 years and another family member develops malignancy under 45 years or sarcoma at any age

BRCA 1 and 2

• Carried on chromosome 17 (BRCA 1) and Chromosome 13 (BRCA 2)
• Linked to developing breast cancer (60%) risk.
• Associated risk of developing ovarian cancer (55% with BRCA 1 and 25% with BRCA 2).
• BRCA2 mutation is associated with prostate cancer in men

Lynch Syndrome

• Autosomal dominant
• Develop colonic cancer and endometrial cancer at young age
• 80% of affected individuals will get colonic and/ or endometrial cancer