Tumour Suppressors Flashcards
What is the main tumour that is caused when there is a mutation in RB1?
Retinoblastoma.
When there is a familial mutation in the APC gene, what is it called?
Familial adenomatous polyposis (FAP), Gardener’s syndrome.
In what gene is there a mutation in Li Fraumeni syndrome?
p53.
What cancers are mainly produced in Li Fraumeni syndrome?
Sarcoma, breast, brain, adrenal glands, leukaemia, lymphoma.
What is mutated in Gorlin’s syndrome?
PTCH.
What cancers are mainly produced in Gorlin’s syndrome?
Non-life-threatening form of non-melanoma skin cancer.
What is the syndrome where there is a mutation in PTEN?
Cowden syndrome.
In PTEN mutation, what does the cell not produce and why does this predispose to cancer?
p27, allows uncontrolled cell proliferation.
What tumours does PTEN mutation cause?
Benign overgrowths of hamartomas. Increased risk of breast, thyroid, uterine and other cancers.
What is the mutation in HNPCC/Lynch syndrome?
MLH1 (mismatch repair).
What is caused when there is a genetic defect in nucleotide excision repair (NER) gene?
Xeroderma pigmentosa.
What disease does a mutation in the Von Hippel-Lindau gene cause?
Von Hippel-Lindau disease.
What does Von Hippel-Lindau disease cause?
Visceral cysts and benign tumours with potential for subsequent malignant transformation.
Why does Von Hippel-Lindau disease increase cancer risk?
It causes increased levels of angiogenic growth factors.
What cancers does mutation in the BRCA1 gene predispose to?
Breast, ovarian, pancreatic.
