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Principles of tumour biology for FRCR CO1 > 1.4 Inherited and on-inherited causation of human cancers > Flashcards

1.4 Inherited and on-inherited causation of human cancers Flashcards

1
Q

What are some lifestyle causes of cancer?

A
  1. Tobacco - 16% developed, 10% developing
  2. Diet/nutrition - 30% developed, 20% developing
  3. Alcohol
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2
Q

What are some inorganic causes of cancer?

A
  1. Arsenic
  2. Cadmium
  3. Chromium
  4. Nickel
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3
Q

What are some organic causes of cancer?

A
  1. Polycyclic aromatic hydrocarbons - burning things e.g petrol, forrest fires
  2. Aflatoxin - fungal contamination of crops
  3. Benzene - burning things and petrol
  4. Nitrosamine - foods
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4
Q

What are some hormonal causes of cancer?

A
  1. HRT
  2. Tamoxifen
  3. Diethylstilbestrol - given to prevent miscarriage
  4. Ethinyl estradiol - contraceptives
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5
Q

How are polycyclic aromatic hydrocarbons metabolised?

A

In the liver by CYP1A1

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6
Q

What is the metabolic product of polycyclic aromatic hydrocarbon metabolism?

A

BP-diol epoxides

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7
Q

What type of repair is used for damage caused by polycyclic aromatic hydrocarbons?

A

Nucleotide Excision Repair

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8
Q

What is the nucelotide transversion caused by polycyclic aromatic hydrocarbons?

A

G -> T

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9
Q

What type of cancer does polycyclic aromatic hydrocarbon cause?

A

Lung cancer

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10
Q

What is vinyl chloride?

A

Gas produced from PVC

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11
Q

How is vinyl chloride metabolised?

A

CYP2E1 in the liver

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12
Q

What are the products of vinyl chloride metabolism?

A

Chloroethylene oxide
Chloroacetaldehyde

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13
Q

What type of repair is used for damage caused by vinyl chloride?

A

Nucleotide or Base Excision Repair

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14
Q

What is the nucleotide transversion in vinyl chloride damage?

A

G -> A

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15
Q

What types of cancers are associated with vinyl chloride exposure?

A
  1. Liver angiosarcoma
  2. HCC
  3. Brain
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16
Q

1.

What bacterial infection can cause in cancer?

A

H.Pylori

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17
Q

What RNA viral infections can cause cancer?

A
  1. HTLV
  2. Rous sarcoma virus (chickens)
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18
Q

What DNA viral infections can cause cancer?

A
  1. Hep B
  2. HPV 16 & 18
  3. EBV (HHV4)
  4. Kaposi (HHV8)
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19
Q

What protein produced by H. Pylori causes cancer?

A

CagA

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20
Q

What pathways does CagA affect?

A

MAPK/ERK
Wnt/Beta Catenin

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21
Q

What cancer is H.Pylori associated with?

A

Gastric adenocarcinoma

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22
Q

What is the protein produced by HTLV?

A

Tax

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23
Q

What pathways does the Tax protein act?

A

NF-kB
ATM suppressed

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24
Q

What cancers are associated with HTLV?

A

T-cell lymphoma/leukaemia

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25
Q

What protein is produced by rous sarcoma virus?

A

v-src

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26
Q

What pathways does v-src affect?

A

STAT-VEGF - increased MMP2 and 9

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27
Q

What cancer does rous sarcoma virus cause?

A

Sarcoma (mainly in chickens)

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28
Q

What protein is produced by hepatitis B?

A

HBx

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29
Q

What pathway does HBx affect?

A

MAPK/ERK
JAK-STAT
Inhibits p53

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30
Q

What cancer is Hep B associated with?

A

Liver

(risks: male, anflatoxin exposure, viral genotype C, HLA-DP/DQ)

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31
Q

What protein does HPV produce?

A

E6 and E7

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32
Q

What pathways do E6 and E7 act on?

A

Rb/E2F
p53/MDM2

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33
Q

What cancers is HPV associated with?

A

Cervical
Orompharyngeal

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34
Q

What prtoteins does EBV produce?

A

LMP1A and 2A

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35
Q

What pathways do LMP1A and 2A act on?

A

JAK-STAT
PI3K/Akt
MAPK/ERK

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36
Q

What cancers are associated with EBV?

A

Burkitt’s
Nasopharyngeal
Gastric
PTL

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37
Q

What protein is produced by HHV8 (Kaposi)?

A

LANA
vGPCR

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38
Q

What pathway do LANA and vGPCR affect?

A

MAPK/ERK
JAK-STAT
Wnt/beta catenin
Increase in HIF1alpha

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39
Q

What cancers are associated with Kaposi’s (HHV8)?

A

Kaposi sarcoma
Primary effusion lymhpoma
Multicentric Castleman’s disease

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40
Q

What are the sources of carcinogenic ionising radiation?

A
  1. Radon gas
  2. Aeroplanes
  3. Medical sources
  4. Nuclear accidents
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41
Q

What are the non-ionising radiations?

A

UVB - 290-320nm most carcinogenic
UVA
UVC

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42
Q

What does ionising radiation cause?

A

30% - Direct DNA damage (single or double strand breaks)

70% Indirect DNA damage - free radicals are generated from radiation interaction with water (single or double strand breaks)

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43
Q

What damage does UVB cause?

A

Cylobutane-pyramidine dimers
Pyramidine dimers

Free radical generation

G -> T transversions

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44
Q

What is the repair mechanism for UV damage?

A

Nucleotide Excision Repair

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45
Q

What tumour supressor gene is mutated in Li Fraumeni syndrome?

A

p53

Autosomal Dominant

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46
Q

What is the chromosome location for the Li Fraumeni mutation?

A

17q11

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47
Q

What gene function is lost in Li Fraumeni syndrome?

A

p53 lost

Transcription regulation
Growth arrest
Apoptosis

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48
Q

What cancers occur in Li fraumeni syndrome?

A

Early onset

BB-ALS
Breast
Brain
Adrenal
Leukaemia Sarcoma

49
Q

What tumour suppressor gene is mutated in Retinoblastoma?

A

RB1

Autosomal Dominant

50
Q

What is the chromosome location for the Retinoblstoma mutation?

A

13q14

51
Q

What gene function is lost in Retinoblastoma?

A

Transcription regulation

52
Q

What cancers occur in Retinoblastoma?

A
  1. Retinoblastomas
  2. Osteosarcomas
53
Q

What gene is mutation in Wilm’s disease?

A

Wt1

10% AD
90% somatic

54
Q

What is the chromosome location for the Wilm’s mutation?

A

11p13

55
Q

What gene function is lost in Wilm’s disease?

A

Transcription regulation

56
Q

What cancer is associated with Wilm’s disease?

A

Nephroblastoma

57
Q

What is the gene mutation in Peutz-Jeghers syndrome?

A

STK11 aka LKB1

Autosomal Dominant

58
Q

What is the chromosome location of the Peutz-Jegher’s gene?

A

19p13

59
Q

What gene function is lost in Peutz-Jeghers?

A

Ser/Thr kinase production

60
Q

What cancers are associated with Peutz-Jeghers?

A
  1. Colonic hamartomas
  2. Colorectal
  3. Breast
61
Q

What is the gene mutation in Familial Polypoidosis Coli?

A

Adenomatous Polyposis Coli

Autosomal Dominant

62
Q

What is the chromosome location of the gene mutated in Familial Polyposis Coli?

A

5q21

63
Q

What gene function is lost in Familial Polyposis Coli?

A

APC-KRAS-p53 pathway

Regulation of beta catenin activity

64
Q

What cancers are associated with Familial Polypoidosis Coli?

A
  1. Colon - nearly 100% chance of getting
  2. Duodenal
65
Q

What genes are mutated in Lynch syndrome/ Hereditary Nonpolyposis Colorectal Cancer? What are their chromosomal locations?

A

MLH1 - 3p21
MSH2 - 2p22
MSH6 -2p16
PMS1 - 2p31
PMS2 -7p22

Autosomal Dominant

66
Q

What gene function is lost in Hereditary Non Polyposis Colorectal Cancer/Lynch syndrome?

A

DNA MisMatch Repair (MMR)

67
Q

What cancers are associated with Hereditary Non Polyposis Colorectal Cancer/Lynch syndrome?

A
  1. Colon
  2. Endometrial
  3. Lymphoma
  4. Skin
68
Q

What genes are mutated in familial breast cancer?

A

BRCA1
BRCA2

Autosomal Dominant

69
Q

What are the chromosome locations for the genes mutated in hereditary breast cancer?

A

BRCA 1 - 17q21
BRCA 2 - 13q21

70
Q

What gene function is lost in familial breast cancer?

A

Transcription regulation
Homologous Recombination DNA repair

71
Q

What cancers are associated with BRCA1?

A
  1. Breast (50-87%) - more likely to be high grade TNBC
  2. Ovarian 40-60%
  3. Prostate 9% by 65
72
Q

What cancers are associated with BRCA2?

A
  1. Breast 40-85% - more likely to be high grade TNBC
  2. Ovarian 15-30%
  3. Prostate 15% by 65
  4. Fanconi anaemia if 2xBRCA2 mutations
73
Q

What is the gene mutation in Neurofibromatosis Type 1?

A

NF1

Autosomal Dominant

74
Q

What is the chromosomal location for NF1?

A

17q11

75
Q

What gene function is lost in Neurofibromatosis Type 1?

A

Ras-GTPase and Ras-GAP activity

76
Q

What cancers are associated with Neurofibromatosis Type 1?

A
  1. Gliomas
  2. Neurofibromas
  3. Sarcoma - malignant peripheral nerve sheath tumours
77
Q

What gene is mutated in Multiple Endocrine Neoplasia type 1?

A

MEN1

Autosomal Dominant

78
Q

What is the chromosomal location of MEN1?

A

11q13

79
Q

What gene function is lost in Multiple Endocrine Neoplasia type 1?

A

JunD activating transciption

80
Q

What cancers occur in Multiple Endocrine Neoplasia Type 1?

A
  1. Pituitary
  2. Parathyroid
  3. Pancreas
81
Q

What is the gene mutation in Multiple Endocrine Neoplasia type 2?

A

RET (proto oncogene)

Autosomal Dominant

82
Q

What gene function is lost in Multiple Endocrine Neoplasia type 2?

A

TGF-beta signalling

83
Q

What cancers occur in Multiple Endocrine Neoplasia type 2?

A
  1. Medullary thyroid
  2. Phaeochromocytoma

MEN2a + parathyroid
MEN 2b Marfanoid

84
Q

What is the gene mutation in Von Hippel Lindau?

A

Von Hippel Lindau

Autosomal Dominant

85
Q

What is the chromosomal loctation of the Von Hippel Lindau gene mutation?

A

3q25

86
Q

What gene function is lost in Von Hippel Lindau?

A

Proteolysis regulation

87
Q

What cancers are associated with Von Hippel Lindau?

A
  1. Clear cell renal cancer
  2. Pancreatic NET
  3. Phaeochromocytoma
  4. Haemangiomas in the retinas and CNS (blindness common)
88
Q

What is the gene mutation in Cowden’s syndrome?

A

PTEN

Autosomal dominant

89
Q

What is the chromosomal location of the gene mutated in Cowden’s syndrome?

A

10q23

90
Q

What gene function is lost in Cowden’s Syndrome?

A

Dual specificity phosphatase

91
Q

What cancers occur in Cowden’s syndrome?

A
  1. Breast
  2. Thyroid
  3. Endometrial
  4. Harmatomas (skin and GI)
92
Q

What gene is mutated in familial melanoma?

A

CDKN2A

93
Q

What is the chromosomal location of the gene mutation in familial melanoma?

A

9p21

94
Q

What gene function is lost in familial melanoma?

A

p16 lost - no inactivation of cyclin-D

95
Q

What cancer occurs in familial melanoma?

A

Melanoma

96
Q

What are the autosomal recessive genetic cancer syndromes?

A
  1. Ataxia telangectasia
  2. Xeroderma pigmentosum
  3. Cockayne’s
  4. Bloom’s
  5. Nijmegen break
97
Q

What is the gene mutation in Ataxia telangectasia?

A

ATM

Autosomal Recessive

98
Q

What is the chromosomal location of the Ataxia telangectasia mutation?

A

11q22

99
Q

What gene function is lost in Ataxia telangectasia?

A

Ser/thr linase
ATM senses DNA strand breaks

100
Q

What cancers occur in Ataxia telangectasia?

A

RADIOSENSITIVITY

  1. Lymphomas
  2. Leukaemias
  3. Progressive neurological impairment
101
Q

What is the gene mutation in Xeroderma pigmentosum?

A

XPA
XPC
ERCC1-5
DDB2

Autosomal Recessive

102
Q

What is the chromosomal location of the gene mutations in Xeroderma pigmentosum?

A

9q22

103
Q

What gene function is lost in Xeroderma pigmentosum?

A

Nucleotide Excision Repair pathway deficient

104
Q

What cancers occur in Xeroderma pigmentosum?

A

UV SENSITIVITY

  1. UV induced skin cancers e.g. BCC, SCC, melanoma
  2. Brain cancer
  3. Progressive neurological impairment
105
Q

What is the gene mutation in Cockayne’s syndrome?

A

ERCC6

Autosomal Recessive

106
Q

What is the chromosomal location of the mutation in Cockayne’s syndrome?

A

10q11

107
Q

What gene function is lost in Cockayne’s syndrome?

A

Nucleotide Excision Repair pathway loss

108
Q

What condition occurs in Cockayne’s syndrome?

A

PHOTOSENSITIVITY

Premature ageing

109
Q

What is the gene mutation in Bloom’s syndrome?

A

BLM

Autosomal Recessive

110
Q

What is the chromosomal location of the gene mutation in Bloom’s syndrome?

A

15q21

111
Q

What gene function is lost in Bloom’s syndrome?

A

DNA replication

112
Q

What cancers occur in Bloom’s syndrome?

A

Leukaemia
Lymphoma

113
Q

What gene mutation occurs in Nijmegen break?

A

NBS1

114
Q

What is the chromosomal location of the gene mutation in Nijmegen break?

A

8q21

115
Q

What gene function is lost in Nijmegen break?

A

Holliday junction DNA repair defect
Homologous recombination defect

116
Q

What cancers occur in Nijmegen break?

A

Radiosensitivity

Haematological malignancies including faconi’s

117
Q

Which syndromes increase radiosensitivity?

A
  • Ataxia telangectasia
  • Nijmegen break
  • MRE11 deficiency
  • Faconi anaemia
118
Q
A

Principles of tumour biology for FRCR CO1 (5 decks)

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