Familial Cancer Syndromes Flashcards
1
Q
Li-Fraumeni Syndrome - what is it?
A
Autosomal dominant condition caused by Germline mutations to p53 tumour suppressor gene
2
Q
What cancers are most associated with Li-Fraumeni syndrome?
A
Sarcomas and leukaemias
3
Q
Lynch Syndrome
A
Autosomal dominant.
Patients go on to develop colonic or endometrial cancer at a young age
4
Q
Gardners syndrome
A
Autosomal dominant familial colorectal polyposis. Multiple colonic polyps.
Caused by mutation of APC gene on chromosome 5
5
Q
BRCA 1 and BRCA2
A
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