Syndromes

Question 1

Li-Fraumeni syndrome

• type of mutation
• cancers involved

Answer 1

Li-Fraumeni Syndrome

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

Question 2

Diagnostic criteria for Li-Fraumeni syndrome

Answer 2

• 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

Question 3

BRACA 1 and 2

• genetics
• cancers risk
• what happens in men

Answer 3

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

Question 4

Lynch syndrome

• genetics
• cancers involved
• criteria used to identify high risk individuals (name)

Answer 4

Lynch Syndrome

• Autosomal dominant
• Develop colonic cancer and endometrial cancer at young age
• 80% of affected individuals will get colonic and/ or endometrial cancer
• High risk individuals may be identified using the Amsterdam criteria

Question 5

Amsterdam criteria

• what they are
• what do they involve

Answer 5

High-risk individuals may be identified using the Amsterdam criteria (Lynch syndrome)

• Three or more family members with a confirmed diagnosis of colorectal cancer, one of whom is a first degree (parent, child, sibling) relative of the other two
• Two successive affected generations
• One or more colon cancers diagnosed under age 50 years
• Familial adenomatous polyposis (FAP) has been excluded

Question 6

Gardeners syndrome

• genetics
• what happens/ diseases
• management

Answer 6

Gardners syndrome

• Autosomal dominant familial colorectal polyposis
• Multiple colonic polyps
• Extra colonic diseases include: skull osteoma, thyroid cancer and epidermoid cysts
• Desmoid tumours are seen in 15%
• Mutation of APC gene located on chromosome 5
• Due to colonic polyps most patients will undergo colectomy to reduce risk of colorectal cancer
• Now considered a variant of familial adenomatous polyposis coli