Familial Cancer Syndromes

Question 1

Li-Fraumeni Syndrome - what is it?

Answer 1

Autosomal dominant condition caused by Germline mutations to p53 tumour suppressor gene

Question 2

What cancers are most associated with Li-Fraumeni syndrome?

Answer 2

Sarcomas and leukaemias

Question 3

What is Lynch Syndrome/Hereditary non-polyposis colorectal cancer (HNPCC)

Answer 3

Autosomal dominant.
Patients go on to develop colon/endometrial/pancreatic cancer at a young age

Question 4

Gardners syndrome

Answer 4

Autosomal dominant familial colorectal polyposis. Multiple colonic polyps.

Caused by mutation of APC gene on chromosome 5

Question 5

BRCA 1 and BRCA2

Answer 5

Carried on chromosome 17 (BRCA 1) and Chromosome 13 (BRCA 2)

Associated with ovarian and breast cancer - 60% risk of developing cancer

BRCA2 associated with prostate cancer in men