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Genetics of Breast Cancer Flashcards

1
Q

What is breast cancer often responsive to?

A

Oestrogen.

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2
Q

Why is tumourigenesis so complex?

A

It is a multi-step process.

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3
Q

What is required for a tumour to form?

A

Acquisition of six specific capabilities.

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4
Q

What are the six specific capabilities?

A
  1. Become independent of external growth stimuli.
  2. Become insensitive to external anti-growth signals.
  3. Become capable of tissue invasion and metastasis.
  4. Become capable of indefinite replication.
  5. Become capable of sustained blood supply-angiogenesis.
  6. Become able to avoid cell death-apoptosis
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5
Q

What is the incidence of breast cancer?

A

Common but good survival

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6
Q

What are the risk factors for breast cancer?

A

Age is major

Environmental

Diet

Weight

Lifestyle

Genetics

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7
Q

What are lobular units?

A

Where milk in mammals is formed.

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8
Q

What is the Normal histology of the breast?

A

Epithelial cells

Myoepithelial cells

Stromal cells

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9
Q

What kinds of lesions occur during breast cancer?

A

In situ malignant

Invasive malignant

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10
Q

What is a lesion?

A

A region in an organ or tissue which has suffered damage through injury or disease

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11
Q

What is malignant?

A

Virulent or infectious.

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12
Q

What is involution?

A

The shrinkage of an organ in old age.

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13
Q

What is the normal function?

A

Mammary gland

Differentiation and expansion

Involution

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14
Q

What is the function of the mammary gland?

A

Puberty

Cyclical changes

Pregnancy

Lactation

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15
Q

What kinds of hormones promote breast cancer?

A

Natural variations

Contraception

Hormone replacement

Phyto-oestrogen

Zeno-oestrogen

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16
Q

What kinds of natural variation can increase the risk of breast cancer?

A

Early menarche

Late menopause

Nulliparity

Absence of lactation

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17
Q

What are Phyto-oestrogen?

A

Soya products

Peas

Beans

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18
Q

What are zeno-oestrogen?

A

Oils

Detergents

Pesticides

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19
Q

What is oophorectomy?

A

Removal of ovaries

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20
Q

What was proved by Beatson in 1896?

A

Oophorectomy resulted in regression of the breast tumour in a young woman

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21
Q

What are the systematic treatments of breast cancer?

A

Antagonise oestrogen

Competitive inhibitor of aromatase

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22
Q

What are some of the proofs that cancer is a genetic disease?

A

Some gross alterations

Small nucleotide changes

Epigenetic disease

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23
Q

What are some gross alterations that could cause DNA genetically?

A

Loss of DNA

Gain of DNA

Altered DNA

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24
Q

What are some small nucleotide changes that could cause DNA genetically?

A

Point mutations

Small insertions

Small deletions

Small inversions

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25
What are some epigenetic effects that could cause DNA genetically?
Hyper-methylation Hypo-methylation Histone modification
26
What aspects of cancer are genetic?
It is enabled by genome instability Can lead to gain or loss of function Inherited predisposition
27
Is cancer hereditary?
All cancer is caused by genetic alterations but those aren't always inherited.
28
What percentage of breast cancer is sporadic?
80%
29
What percentage of breast cancer is familial?
15%
30
What percentage of breast cancer is hereditary?
5%
31
What does it mean when cancer is sporadic?
Arises in a family for the first start.
32
What does it mean when cancer is familial?
Some arise in families for a second or third time but do not show a clear pattern of Mendelian inheritance
33
What does it mean when cancer is hereditary?
Several cases in the family Autosomal dominant inheritance High but variable penetrance Early onset and bilateral
34
What is The BRCAs evidence for genetic cause of breast cancer?
Map loss of gene region in BRCA1 family to chromosome 17q. Then BRCA2 to 13q chromosome arm
35
What is the BRCA1?
Tumour suppressor gene on chromosome 17
36
How is BRCA1 transmitted?
Autosomal dominant transmission
37
What is the function of BRCA1?
Nuclear phosphoprotein Forms a large multi-subunit protein complex Important in DNA repair
38
What is BRCA2?
Tumour suppressor gene on chromosome 13
39
How is BRCA2 transmitted?
Autosomal dominant transmission
40
What is the function of BRCA2?
BRC repeated motifs bind to the RAD51 recombinase is important in DNA repair. Binds PALB2 which binds single- stranded DNA
41
What is the role of BRCA proteins?
Genomic stability DNA damage response and repair Cell cycle checkpoints
42
What is the effect of BRCA protein on chromatin?
Remodelling
42
What is the effect of BRCA protein on oestrogen?
Controls responsiveness
43
What is the effect of BRCA protein on p53?
Coactivator of p53 responsive genes
44
What histological grade is a BRCA1-associated breast tumour?
Higher histological grade 70% are Grade 3
45
What is the effect of BRCA1-associated breast tumours on TP53?
Increased alterations in tumour suppressor gene TP53.
46
What kind of phenotype are BRCA1-associated breast tumours?
Triple-negative
47
What is the proliferative capacity for BRCA1-associated breast tumours?
An increased proliferative capacity, higher S-phase fraction.
48
What type of tumour are often DNA-aneuploid?
BRCA1-associated breast tumours
49
What kind of disorder is Li Faumeni Syndrome?
An autosomal dominant hereditary disorder.
50
What mutation causes Li Fraumeni Syndrome?
Germline mutations in TP53 tumour suppressor
51
How does Li Fraumeni Syndrome cause cancer
Responds to DNA damage to halt cell proliferation
52
When does Li Fraumeni Syndrome present?
At a young age
53
What kind of disorder is Cowden syndrome?
Autosomal dominant hereditary disorder
54
What kind of mutation causes Cowden Syndrome?
Germline mutations in PTEN tumour suppressor
55
How does Cowden syndrome cause cancer?
Restrains cell division
56
When does Cowden syndrome present?
Develop benign hamartomas in late twenties on skin and mucous membranes
57
What kind of syndrome is Peutz Jeghers Syndrome?
Autosomal dominant heriditary disorder
58
What kind of mutation causes Peutz Jeghers Syndrome?
Germline mutations in STK11 tumour suppressor
59
How does Peutz Jeghers Syndrome cause cancer?
Serine threonine kinase, regulates cell polarity
60
When does Peutz Jeghers Syndrome present?
Develop benign hamartomatous polyps in childhood in gastrointestinal tract
61
What kind of syndrome is Gorlin syndrome?
Autosomal dominant heriditary disorder
62
What kinds of mutations cause Gorlin syndrome?
Germline mutations in PTCH1 tumour suppressor
63
How does Gorlin syndrome cause cancer?
Receptor for sonic hedgehog and restrains cell division
64
What kind of syndrome is Ataxia Telangasia Syndrome?
Autosomal recessive heriditary disorder
65
What kind of mutation causes Ataxia Telangasia Syndrome?
Germline mutations in ATM tumour suppressor
66
How does Ataxia Telangasia Syndrome cause cancer?
Recognises double-stranded DNA damage Affects nervous and immune systems → affects movement coordination.
67
What mutation causes Ataxia Telangasia Syndrome?
Germline mutations in ATM tumour suppressor
68
What other genes were found to have a connection to breast cancer?
CHEK2 BALB2
69
What is the high risk allele SNP of breast cancer?
rs2981582 in intron 2 of FGFR2
70
What was COGS?
Collaborative Oncological Gene-environment Study
71

Genetics and Human Disease (16 decks)

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