Familial cancer syndromes

Question 1

Familial adenomatous polyposis genetic mutation

Answer 1

mutation in APC tumour suppressor gene

Question 2

Neurofibromatosis type 1 genetic mutation

Answer 2

mutation in NF1 tumour suppressor gene

Question 3

Hereditary retinoblastoma genetic mutation

Answer 3

mutation in RB1 tumour suppressor gene

Question 4

Wilms tumour genetic mutation

Answer 4

mutation in WT1 tumour suppressor gene

Question 5

What tumours occur in FAP?

Answer 5

colon
thyroid
stomach
intestine

Question 6

Tumour type in neurofibromatosis type 1

Answer 6

neurofibroma

Question 7

Describe Knudson’s 2 hit hypothesis

Answer 7

an altered allele is inherited and is found in all somatic cells that contain genetic material
when the 2nd (previously normal) allele of the gene pair becomes inactivated in a single somatic cell, this can lead to loss of control of cell growth, unchecked cell proliferation, and cancer

Question 8

FAP inheritance

Answer 8

autosomal dominant