Tumour Suppressors Flashcards

1
Q

What is the main tumour that is caused when there is a mutation in RB1?

A

Retinoblastoma.

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2
Q

When there is a familial mutation in the APC gene, what is it called?

A

Familial adenomatous polyposis (FAP), Gardener’s syndrome.

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3
Q

In what gene is there a mutation in Li Fraumeni syndrome?

A

p53.

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4
Q

What cancers are mainly produced in Li Fraumeni syndrome?

A

Sarcoma, breast, brain, adrenal glands, leukaemia, lymphoma.

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5
Q

What is mutated in Gorlin’s syndrome?

A

PTCH.

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6
Q

What cancers are mainly produced in Gorlin’s syndrome?

A

Non-life-threatening form of non-melanoma skin cancer.

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7
Q

What is the syndrome where there is a mutation in PTEN?

A

Cowden syndrome.

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8
Q

In PTEN mutation, what does the cell not produce and why does this predispose to cancer?

A

p27, allows uncontrolled cell proliferation.

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9
Q

What tumours does PTEN mutation cause?

A

Benign overgrowths of hamartomas. Increased risk of breast, thyroid, uterine and other cancers.

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10
Q

What is the mutation in HNPCC/Lynch syndrome?

A

MLH1 (mismatch repair).

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11
Q

What is caused when there is a genetic defect in nucleotide excision repair (NER) gene?

A

Xeroderma pigmentosa.

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12
Q

What disease does a mutation in the Von Hippel-Lindau gene cause?

A

Von Hippel-Lindau disease.

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13
Q

What does Von Hippel-Lindau disease cause?

A

Visceral cysts and benign tumours with potential for subsequent malignant transformation.

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14
Q

Why does Von Hippel-Lindau disease increase cancer risk?

A

It causes increased levels of angiogenic growth factors.

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15
Q

What cancers does mutation in the BRCA1 gene predispose to?

A

Breast, ovarian, pancreatic.

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