Genetics Flashcards
1
Q
Familial Adenomatous Polyposis (FAP) shows what pattern of inheritance?
A
Autosomal dominant
2
Q
Mutations in which gene cause FAP?
A
Adenomatous Polyposis Coli gene (a tumour suppressor)
3
Q
What is the penetrance of FAP?
A
Almost 100% (i.e. if you have it, you have almost a 100% chance of developing CRC)
4
Q
FAP is characterised by what type of morphological changes in the colon?
A
Hundreds / thousands of polyps
5
Q
Lynch Syndrome (previously known as Hereditary Non-Polyposis Colorectal Cancer, HNPCC) is caused by mutations in which type of gene?
A
Mismatch repair genes: responsible for detecting errors that occur during DNA replication and recombination.
