Genetics in Surgically resectable cancer

Question 1

Name the syndrome:

• Autosomal dominant
• Germline mutations to p53
• High incidence of sarcomas and leukaemias

Answer 1

Li-Fraumeni Syndrome

Question 2

Diagnosis of Li-Fraumeni syndrome

Answer 2

Patient develops sarcoma under 45 years

1st degree relative diagnosed with any cancer below age 45 years

Question 3

Carried on chromosome 17 and Chromosome 13
Linked to developing breast cancer
Associated risk of developing ovarian cancer

Answer 3

BRCA1/BRCA2

Question 4

Autosomal dominant
Colonic and endometrial cancer

Answer 4

Lynch Syndrome

Question 5

Amsterdam criteria is used to identify patients at risk of lynch syndrome

Answer 5

> 3 family members with a confirmed diagnosis of colorectal cancer, one of whom is a first degree relative

Two successive affected generations.

> 1 colon cancers diagnosed <50 years.

Familial adenomatous polyposis (FAP) has been excluded.

Question 6

Autosomal dominant
colonic polyps

Extra colonic diseases include:
- skull osteoma
- thyroid cancer and epidermoid cysts
- Desmoid tumours

Mutation of APC gene located on chromosome 5

Answer 6

Familial Adenomatous Polyposis (FAP)