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Principles of Disease > Genetic Predisposition to Cancer > Flashcards

Genetic Predisposition to Cancer Flashcards

1
Q

Cancer is a ______ disease of somatic cells.

A

Genetic

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2
Q

Is cancer common?

A

Yes

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3
Q

What are the 2 main reasons for cancer?

A

Chance

Environmental factors

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4
Q

Where do somatic mutations occur?

A

Nongermline tissues

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5
Q

Where are germline mutations present?

A

In egg or sperm

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6
Q

What type of mutation is heritable?

A

Germline

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7
Q

What do tumours begin as?

A

Mutation in one cell

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8
Q

What are the 3 processes associated with cancer?

A

Oncogenes
Tumour supressor genes
DNA damage respose genes

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9
Q

What do proto-oncogenes normally code for?

A

Proteins to regulate cell growth and differentiation

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10
Q

What do mutations change proto-oncogenes into?

A

Oncogene

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11
Q

What can oncogenes do?

A

Accelerate cell division

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12
Q

What do tumour suppressor genes do?

A

Inhibit cell cell or promote apoptosis

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13
Q

What do DNA damage response genes do?

A

Repair mechanics for DNA

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14
Q

Why does cancer arise when both DNA damage response genes fail?

A

Speeds the accumulation of mutations in other critical genes.

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15
Q

What does mismatch repair failure lead to?

A

Microsatellite instability.

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16
Q

MSI is the phenotypic evidence that MMR is not ______ normally.

A

Functioning

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17
Q

Define dysplastic.

A

“Benign” but could progress to malignancy.

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18
Q

What is a dominantly inherited cancer syndrome by oncogenes?

A

Thyroid cancer

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19
Q

What is a dominantly inherited cancer syndrome by tumour suppressor genes?

A

Breast/ovarian cancer

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20
Q

What is a dominantly inherited cancer syndrome by DNA repair?

A

Lynch Syndrome

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21
Q

What type of disease needs the copy from both parents?

A

Autosomal recessive

22
Q

De novo mutation occurs in ______ cell of parent

23
Q

In hereditary cancer, what is wrong with penetrance?

A

Often incomplete

24
Q

What is retinoblastoma?

A

Most common eye tumour in children.

25
What does identifying children with retinoblastoma early do?
Reduce morbidity and mortality.
26
What are the top 3 risk factors of breast cancer?
Ageing Dietary Factors Family History
27
Do genes work in isolation?
No
28
What is the average number of mutations in breast cancer?
20,000
29
How many mutations do we have most days?
60,000
30
What is the risk of breast cancer of people with BRCA1?
50-85%
31
What is the risk of secondary primary breast cancer of people with BRCA1?
40-60%
32
What is the risk of ovarian cancer of people with BRCA1?
15-45%
33
What is the risk of breast cancer of women with BRCA2?
50-85%
34
What is the risk of ovarian cancer of women with BRCA2?
10-20%
35
What is the risk of breast cancer in men with BRCA2?
6%
36
What are the three highest risk factors of colorectal cancer?
Ageing Personal history of CRC High fat, low fibre diet
37
What is the carcinoma sequence?
Normal epithelium Hyperproliferative epithelium Adenoma Carcinoma
38
Define non-polyposis.
Few to no adenomas
39
Define polyposis.
Multiple adenomas
40
Where do sporadic HNPCC cancers usually occur?
Exit part of colon
41
What type of cells usually have extracolonic cancers?
Those which have a high turnover i.e ovary
42
Sebaceous skin tumours are always ______.
Benign
43
What is the estimated penetrance for adenomas in FAP?
Greater than 90%
44
Untreated polyposis of FAP leads to ___% risk of cancer.
100
45
What would 4 or more CHRPE mean?
A mutation in the ACP gene.
46
Is attenuated FAP associated with CHRPE?
No
47
What are the physical features of attenuated FAP?
Upper GI lesions
48
What is recessive MYH polyposis similar to?
GI features of attenuated FAP
49
What can multiple modifier genes of lower genetic risk explain?
Families with history of cancer and no identified mutation. | Difference in cancer penetrance in families.
50
What 3 ways are there to manage cancer risk?
Surveillance Surgery Chemoprevention
51
What are 3 problems with gene tests?
Not always possible Mutation may not be related Variants are unknown significance
52
What are the two types of sequences?
Exome | Genome

Principles of Disease (42 decks)

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