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Genetics and Human Disease > Genetics of Breast Cancer > Flashcards

Genetics of Breast Cancer Flashcards

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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
Q

What are some epigenetic effects that could cause DNA genetically?

A

Hyper-methylation

Hypo-methylation

Histone modification

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26
Q

What aspects of cancer are genetic?

A

It is enabled by genome instability

Can lead to gain or loss of function

Inherited predisposition

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27
Q

Is cancer hereditary?

A

All cancer is caused by genetic alterations but those aren’t always inherited.

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28
Q

What percentage of breast cancer is sporadic?

A

80%

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29
Q

What percentage of breast cancer is familial?

A

15%

30
Q

What percentage of breast cancer is hereditary?

A

5%

31
Q

What does it mean when cancer is sporadic?

A

Arises in a family for the first start.

32
Q

What does it mean when cancer is familial?

A

Some arise in families for a second or third time but do not show a clear pattern of Mendelian inheritance

33
Q

What does it mean when cancer is hereditary?

A

Several cases in the family

Autosomal dominant inheritance

High but variable penetrance

Early onset and bilateral

34
Q

What is The BRCAs evidence for genetic cause of breast cancer?

A

Map loss of gene region in BRCA1 family to chromosome 17q.

Then BRCA2 to 13q chromosome arm

35
Q

What is the BRCA1?

A

Tumour suppressor gene on
chromosome 17

36
Q

How is BRCA1 transmitted?

A

Autosomal dominant transmission

37
Q

What is the function of BRCA1?

A

Nuclear phosphoprotein

Forms a large multi-subunit protein complex

Important in DNA repair

38
Q

What is BRCA2?

A

Tumour suppressor gene on chromosome 13

39
Q

How is BRCA2 transmitted?

A

Autosomal dominant transmission

40
Q

What is the function of BRCA2?

A

BRC repeated motifs bind to the RAD51 recombinase is important in DNA repair.

Binds PALB2 which binds single-
stranded DNA

41
Q

What is the role of BRCA proteins?

A

Genomic stability

DNA damage response and repair

Cell cycle checkpoints

42
Q

What is the effect of BRCA protein on chromatin?

A

Remodelling

42
Q

What is the effect of BRCA protein on oestrogen?

A

Controls responsiveness

43
Q

What is the effect of BRCA protein on p53?

A

Coactivator of p53 responsive genes

44
Q

What histological grade is a BRCA1-associated breast tumour?

A

Higher histological grade

70% are Grade 3

45
Q

What is the effect of BRCA1-associated breast tumours on TP53?

A

Increased alterations in tumour suppressor gene TP53.

46
Q

What kind of phenotype are BRCA1-associated breast tumours?

A

Triple-negative

47
Q

What is the proliferative capacity for BRCA1-associated breast tumours?

A

An increased proliferative capacity, higher S-phase fraction.

48
Q

What type of tumour are often DNA-aneuploid?

A

BRCA1-associated breast tumours

49
Q

What kind of disorder is Li Faumeni Syndrome?

A

An autosomal dominant hereditary disorder.

50
Q

What mutation causes Li Fraumeni Syndrome?

A

Germline mutations in TP53 tumour suppressor

51
Q

How does Li Fraumeni Syndrome cause cancer

A

Responds to DNA damage to halt cell proliferation

52
Q

When does Li Fraumeni Syndrome present?

A

At a young age

53
Q

What kind of disorder is Cowden syndrome?

A

Autosomal dominant hereditary disorder

54
Q

What kind of mutation causes Cowden Syndrome?

A

Germline mutations in PTEN tumour suppressor

55
Q

How does Cowden syndrome cause cancer?

A

Restrains cell division

56
Q

When does Cowden syndrome present?

A

Develop benign hamartomas in late twenties on skin and mucous membranes

57
Q

What kind of syndrome is Peutz Jeghers Syndrome?

A

Autosomal dominant heriditary disorder

58
Q

What kind of mutation causes Peutz Jeghers Syndrome?

A

Germline mutations in STK11 tumour suppressor

59
Q

How does Peutz Jeghers Syndrome cause cancer?

A

Serine threonine kinase, regulates cell polarity

60
Q

When does Peutz Jeghers Syndrome present?

A

Develop benign hamartomatous polyps in childhood in gastrointestinal tract

61
Q

What kind of syndrome is Gorlin syndrome?

A

Autosomal dominant heriditary disorder

62
Q

What kinds of mutations cause Gorlin syndrome?

A

Germline mutations in PTCH1 tumour suppressor

63
Q

How does Gorlin syndrome cause cancer?

A

Receptor for sonic hedgehog and restrains cell division

64
Q

What kind of syndrome is Ataxia Telangasia Syndrome?

A

Autosomal recessive heriditary disorder

65
Q

What kind of mutation causes Ataxia Telangasia Syndrome?

A

Germline mutations in ATM tumour suppressor

66
Q

How does Ataxia Telangasia Syndrome cause cancer?

A

Recognises double-stranded DNA damage

Affects nervous and immune systems → affects movement coordination.

67
Q

What mutation causes Ataxia Telangasia Syndrome?

A

Germline mutations in ATM tumour suppressor

68
Q

What other genes were found to have a connection to breast cancer?

A

CHEK2

BALB2

69
Q

What is the high risk allele SNP of breast cancer?

A

rs2981582 in intron 2 of FGFR2

70
Q

What was COGS?

A

Collaborative Oncological Gene-environment Study

71
Q
A

Genetics and Human Disease (16 decks)

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