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Genetics Flashcards

1
Q

How many chromosomes do we have

A

23 pairs

46 total

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2
Q

How much breast cancer is hereditary

A

5-10%

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3
Q

How much ovarian cancer is hereditary

A

5-10%

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4
Q

How many women will get breast cancer

A

1 in 8

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5
Q

How many women will get ovarian cancer

A

1 in 70

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6
Q

Which genes cause hereditary susceptibility to CRC

A

HNPCC

FAP

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7
Q

What occurs during G1 of cell cycle

A

First cell growth

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8
Q

What happens during G0 phase of cell cycle

A

Cells go into resting

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9
Q

What occurs during G2 of the cell cycle

A

2nd growth phase

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10
Q

What occurs during the M phase of the cell cylce

A

Mitosis

Cell division

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11
Q

Which 2 types of gene mutation are there

A

Germline mutation

Somatic Mutation

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12
Q

What is germline mutation

A

Mutation that is present in the egg
Heritable
Cause cancer family syndromes
Only types of mutation that can be passed onto offspring

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13
Q

What are somatic mutations

A

Occur in non-germline cells
Non-inheritable
How most cancers occur
Random mutation in a cell

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14
Q

Are most cancers somatic or germline mutations

A

Somatic

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15
Q

Which type of mutation is heritable

A

Germline mutation

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16
Q

What is an oncogene

A

A gene that has the potential to cause cancer

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17
Q

Describe the multistep carcinogenesis in colon cancer

A

Loss of APC
Activation of K-rar
Loss of 18q Loss of TP53
Other alterations

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18
Q

What is non-sense mutation

A

When a change in base causes a stop code to be coded for

This causes premature halt in the protein making

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19
Q

What a mis-sense mutation

A

When a single base substitution codes for an amino acid which doesn’t make the original sense but is not non-sense

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20
Q

Another name for HNPCC

A

Lynch syndrome

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21
Q

What cancers is HNPCC at risk for

A 
CRC 
Endometrial 
Urinary tract
Ovarian 
Gastric cancers
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22
Q

Which type of CRC cancer develops in in HNPCC

A

Adeno-carcinoma sequence from poly formation

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23
Q

Clinical features of HNPCC

A

Early but variable age at Dx of CRC
(45r average)
Tumour site in proximal colon predominates
FH of CRC

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24
Q

Which genes are associated with breast cancer and ovarian cancer

A

BRCA1 and BRC 2

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25
Q

What is the risk of breast cancer in BRCA genes

A

60-80%

Often early age onset

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26
Q

What is the risk of ovarian cancer in BRCA genes

A

20-50%

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27
Q

What is the risk to males of the BRCA genes (especially 2)

A

Increased risk of prostate cancer and breast cancer

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28
Q

What is a prophylactic option for those with the BRCA genes

A

Prophylactic double mastectomy and hysterectomy

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29
Q

Describe autosomal dominant inheritance

A

Each child has 50% chance of inheriting
No skipped generations
Equally transmitted by males and females

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30
Q

When should you suspect hereditary cancer syndromes

A

Cancer in 2 or more close relatives
Early age Dx
Multiple primary tumours
Characteristic pattern of tumours (e.g breast and ovarian, endometrial and bowel)
Evidence of autosome dominant transmission

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31
Q

What are the options for breast cancer surveillance

A 
Breast awareness
Early clinical surveillance
Annual clinical beast exams 
Mammography (moderate/high 2yrly from 35-40, yearly from 40-50) 
MRI screening those at highest risk
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32
Q

Describe prophylactic mastectomy

A

Removed both breasts

Significantly reduced risk of breast cancer

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33
Q

Describe prophylactic oophorectomy

A

Eliminates risk of primary ovarian cancer
However peritoneal carcinomas may still occur
Induced surgical menopause so give HRT

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34
Q

How is genetic risk estimation classified

A

High
Moderate
Low

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35
Q

What is the surveillance option for CRC

A

Colonoscopy
High risk: 2yrly from 25
Moderate risk: 2yrly 35-55

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36
Q

Surveillance option for endometrial cancer

A

Look for PMB
Transvaginal USS
Surgery

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37
Q

Benefits of cancer surveillance

A

Identifies high risk
Identifies non-carriers in families with a known mutation
Allows early detection and prevention strategies
May relieve anxiety

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38
Q

Risks of cancer surveillance

A

Does not detect all mutations
Continued risk of sporadic cancer
Efficacy of interventions variable
May result in psychosocial 
or economic harm

39
Q

What is a multi-system disorder

A

Disorder that affects more than one system (often several)

40
Q

Which structural chromosomal mutations can cause multi-system dis

A

Translocations
Deletions
Micro-deletions

Numeracy: eg Trisomy

41
Q

Example of numerical chromosome mutation that can cuase multi-system dis.

A

Trisomy 21

Down Syndrome

42
Q

What type of inheritance is Myotonic dystrophy and Neurofibromatosis 1

A

Autosomal dominant

43
Q

What type of inheritance is CF

A

Autosomal recessive

44
Q

How many copies of the gene are needed in autosomal dominant

A

1 copy

45
Q

How many copies of the genes are needed in autosomal recessive

A

2 copies of the gene

46
Q

What type of inheritance is Duchenne Muscular Dystrophy

A

-linked

47
Q

Why do some genes cause multi-system involvement

A

Several genes with diverse functions are involved
Single gene is widely expressed
Single gene tissue specific expression but tissue integral part of many different system

48
Q

Inheritance of neurofibromatosis Type 1

A

Autosomal dominant

49
Q

Pathology of neurofibromatosis Type 1

A

Causes tumours to grow along nerves

50
Q

NIH diagnostic criteria for neurofibromatosis type 1

A 
Need 2+ for Dx 
Cafe au lait spots (6 or more)
Neurofibromas (2 or more)
Axillary freckling 
Lisch nodules (speks in iris)
Optic glioma 
Thinning of long bone cortex 
FH
51
Q

Further features of NF1

A 
Macrocephaly 
Short stature 
Dysmorphic features 
Learning Difficulties 
Epilepsy 
Scoliosis 
Pseudoathrosis 
Raised BP 
Neoplasia
52
Q

Dx of NF1

A

Clinical Dx using NIH criteria (2+ of criteria)

53
Q

Rx for neurofibromatosis

A

Annual review of affected individuals and at risk children until diagnosis can be excluded (5 years)
BP
Spine for scoliosis
Tibia for unusual angulation
Visual acuity and visual fields
Educational assessment
Ask patient to report any unusual symptoms

54
Q

Which gene has been identified with NF1

A

17q

55
Q

What is meant by variable expression

A

Inter-familial and intra-familial difference on the gene expression
Therefore different extent of the disease

56
Q

Are NF1 and NF2 the same

A

NO completely different disorders

57
Q

Where is the NF2 gene

A

Chromosome 22

58
Q

Main features of NF2

A

Acoustic neuromas (usually bilaterally)
CNS and spinal tumours
Few cafe au lait spots

59
Q

Classic triad of tuberous sclerosis

A

Epilepsy
Learning difficulties
Skin Lesions

60
Q

Type of inheritance in tuberous sclerosis

A

Autosomal dominant

61
Q

Pathology of tuberous sclerosis

A

Hamartomas in different organs

62
Q

Clinical features of tuberous sclerosis

A

Multi-system
Learning difficulties
Seizures

63
Q

Other features of tuberous sclerosis

A

Skin lesions

  • depigmented macules
  • angiofibromas
  • fibrous plaque forehead
  • shagreen patches
  • Subungual fibromas

Kidney
-cysts and angiomyolipomata

Phakomas in eye
- benign unless on macula

Rhabdomyomas in heart

64
Q

Screening of at risk relatives of tuberous sclerosis

A 
Surveillance and genetic counselling 
Clinical examination (skin signs, nails, retina examination)
Cranial MRI 
Renal USS 
ECHO
65
Q

What type of inheritance is myotonic dystrophy

A

Autosomal dominant

66
Q

What are the 2 types of myotonic dystrophy

A

DM 1

DM 2

67
Q

Clinical features of myotonic dystrophy

A 
Muscle weakness
Cataracts (bilateral)
Muscle stiffness 
Myotonia 
Gradual muscle loss 
Muscle wasting 
DM 
Bowel problems 
Low motivation 
Heart block
68
Q

What can occur in myotonic dystrophy after anaesthetic if not closely monitored

A

Death

Need to be make anaesthetists aware!

69
Q

What is the gene pathology of myotonic dystrophy

A

CTG repeat

exhibits anticipation with increasing severity in each generation

70
Q

Why is Myotonic Dystrophy a multi-system disorder

A

Because it affect multiple systems

71
Q

What is cascade testing

A

The identification of close relatives of an individual with a disorder to determine whether the relatives are also affected or are carriers of the same disorder. It is intended as a form of medicalscreening.

72
Q

What aetiological factors contribute to adult onset disease

A

Genetic

Environmental

73
Q

Why are adults referred to genetic services

A 
For a Dx
For predictive testing 
Carrier testing or cascade screening
Family history 
Fetal loss or recurrent miscarriage
74
Q

Is Huntington’s due to genetic or environmental factors

A

Purely genetic factors

75
Q

Is scurvy due to genetic or environmental factors

A

Purely environmental

76
Q

4 principles in ethics

A

Respect for autonomy
Beneficence
Non-maleficence
Justice

77
Q

Aetiology of Amyotrophic Lateral Sclerosis (MND)

A

Generally sporadic
Mean onset age 55yrs
5-10% familial

78
Q

Clinical features of MDN

A 
Progressive muscle weakness, wasting and increased reflexed 
Limb and bulbar muscles involved 
Purely motor signs
No sensory signs 
Cognition spared 
Death due to rep. failure
79
Q

Which enzyme/gene has been implicated in familial amyotrophic lateral sclerosis

A 
Superoxide dismutase 
(20% of familial case, 2% of all cases)
80
Q

Primary function of superoxide dismutase

A

Catalyses conversion of intracellular superoxide radicals produced during normal metabolism
Protects many cell types from free radical damage

81
Q

What are the 3 forms of superoxide dismutase

A

SOD1 (cytoplasm)
SOD2 (mitochondria0
SOD3 (extracellular)

82
Q

Features of X-linked inheritance

A

Males are affected in >1 generation
No affected females
Affected males are linked through unaffected females
Males do not transmit to males

83
Q

What type of inheritance if Huntington’s disease

A

Autosomal dominant

84
Q

Movement clinical features of Huntington’s Disease

A 
Movement:
Chorea
Athetosis 
Myoclonus 
Rigidity
85
Q

Cognitive clinical features of Huntington’s disease

A

Cognitive:
Poor planning and memory
Subcortical dementia
NO classical dementia

86
Q

Personality clinical features of Huntington’s disease

A 
Irritable 
Apathetic 
Loss of empathy 
Disinhibition 
Self-centred
87
Q

Psychiatric clinical features of Huntington’s Disease

A

Depression
Paranoia
Psychosis

88
Q

Onset of Huntington’s

A

Late 30yrs early 40s typically

But variable

89
Q

Penetrance in Huntington’s

A

Fully penetrant

90
Q

Cure for Huntington’s

A

No cure

Unsatisfactory treatment

91
Q

Advantages of predictive testing for HD

A

Uncertainty of gene status removed

->If negative:
Concerns about self and offspring reduced.

-> If positive:
Make plans for the future
Arrange surveillance/treatment if any
Inform children/decide whether to have children

92
Q

Disadvantages of Huntington’s Predictive testing

A 
->If positive:
removes hope 
continues uncertainty 
when is this disease going to present?
Becomes a question on when?
known risk to offspring
impact on self/partner/family/friends
potential problems with insurance / mortgage.

->If negative:
expectations of a ‘good’ result
‘survivor’ guilt.

93
Q

Who do genetic Dx affect

A

Impact the whole family

Specialties (9 decks)

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