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genetics Flashcards

1
Q

do people who are low risk of hereditary cancer get additional screening

A

no - same risk as general public

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2
Q

how can people with BRAC1/2 genes lower their risk of breast cancer

A

prophylactic mastectomy

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3
Q

what are the main features of NF2

A

acoustic neuromas (usually bilateral)
CNS and spinal tumours
A few Café Au lait spots

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4
Q

what cancers are associated with HNPCC/ lynch

A 
colorectal
endometrial
urinary tract
ovarian 
gastric
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5
Q

ethically when should children or adolescents be genetically tested

A

if there are potential medical benefits

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6
Q

what is the biggest environmental trigger for disease

A

alcohol consumptions

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7
Q

how often should people with high risk HNPCC get a colonoscopy

A

2 yearly form 25

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8
Q

what is the management of suspect NF1 in a newborn

A

Annual review of affected individuals and at risk children until diagnosis can be excluded (5 years) or genetic test clarified

  • Blood pressure -Spine for scolisosis
  • Tibia for unusual angulation
  • Visual acuity and visual fields
  • Educational assessment - patient report unusual symptoms
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9
Q

why may adults be referred to genetics

A

Diagnosis understand why symptoms have occurred
Predictive testing – if at risk
Carrier testing or cascade screening – find risk to children
Family history (including cancer) – give opportunity of prevention
Fetal loss or recurrent miscarriages.

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10
Q

what is the appropriate follow up for people you suspect to have a hereditary cancer syndrome

A

curate risk assessment
effective genetic counselling
appropriate medical follow up

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11
Q

what is the diagnostic criteria for NF1

A

café au lait spots - 6 or more/big >1/2cm - neurofibromas - 2 or more
axillary freckling Lisch nodules (specks in iris, asymptomatic)
optic glioma (optic chiasm) - thinning of long bone cortex (false joint)
family history
(need +2)

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12
Q

which people may yo suspect a hereditary cancer syndrome in

A

¥ Cancer in 2 or more close relatives (on same side of family)
¥ Early age at diagnosis
¥ Multiple primary tumors
¥ Bilateral or multiple rare cancers
¥ Characteristic pattern of tumours (e.g. breast and ovary, endometrium and bowel)
¥ Evidence of autosomal dominant transmission

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13
Q

how is duchenne muscular dystrophy inherited

A

x linked

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14
Q

what kind of genes are mutated in HNPCC/ lynch

A

mismatch repair genes

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15
Q

describe the multistep carcinogenesis of colon cancer

A 
normal epithelium 
LOSS OF APC
hyper proliferative epithelium
early adenoma
ACTIVATION OF K-RAS
intermediate adenoma
LOSS OF 18Q
late adenoma
LOSS OF TP53
carcinoma
OTHER ALTERATIONS
metastasis
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16
Q

what chromosome is affected in NF2

A

chromosome 22

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17
Q

what are benefits of genetic testing

A
  • Identifies highest risk
  • Identifies non-carriers in families with a known mutation
  • Allows early detection and prevention strategies
    May relieve anxiety
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18
Q

what are some features of myotonic dystrophy

A

Bilateral late-onset cataract
Muscle weakness, stiffness & myotonia (characteristic)
Low motivation
facial weakness
bowel problems (IBS/ constipation
diabetes mellitus more common
Heart block – monitor as cause of unexpected death, treat with pacemaker
Death post-anaesthetic a risk if not monitored – respiratory compromise due to muscle weakness, monitor for much longer after surgery

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19
Q

are somatic mutations heritable

A

no

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20
Q

how often should people with moderate risk HNPCC get a colonoscopy

A

35 and 55

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21
Q

what are risks and limitations of genetic testing

A
  • Does not detect all mutations
  • Continued risk of sporadic cancer
  • Efficacy of interventions variable
    May result in psychosocial or economic harm
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22
Q

what makes myotonic dystrophy worse in each generation

A

anticipation (increasing repeats)

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23
Q

how many pairs of chromosomes are in the human genome

A

23

~25,000

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24
Q

how do tumours divide

A

uncontrollably

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25
Q

what age do people with lynch syndrome typically present

A

45 years

26
Q

what sex is affected by X linked conditions

A

males

27
Q

do AD mutations have skipped generations

A

no

28
Q

do people who are medium risk of hereditary cancer get additional screening

A

yes - increased frequency

29
Q

what gene is affected in Neurofibromatosis type 1

A

17q - tumour supressor gene

30
Q

list some possible chromosomal models of inheritance

A

translocations
deletions/ micro deletion
numerical

31
Q

what is the lifetime risk of breast cancer if you have the BRAC1/2 gene

A

60-80%

32
Q

what mutation is seen in myotonic dystrophy

A

CTG repeat in chromosome 19, exhibits anticipation (increasing repeats) with increasing severity in each generation

33
Q

what cancers are increased in males who have the BRAC2 gene

A

prostate

breast

34
Q

name 3 diseases that have a genetic aetiology with germ line variations present in every cell (AD)

A

NF1
myotonic dystrophy
tuberous sclerosis

35
Q

what genes cause tuberous sclerosis

A

TSC 1

TSC 2

36
Q

do people who are high risk of hereditary cancer get additional screening

A

yes + gene testing

37
Q

what are clinical features of tuberous sclerosis

A

learning difficulty
seizures
skin lesions - depigmented macules, angiofibromas (butterfly rash, raised areas, face/ around mouth), fibrous plaque forehead, shagreen patches, subungual fibromas (toenail groove, diagnostic aid)
Kidney - cysts and angiomyolipomata (can predispose to renal malignancy)
Phakomas in eye - benign unless on macula
Rhabdomyomas in heart – tumour of heart muscle

38
Q

what is the lifetime risk of ovarian cancer if you have the BRAC1/2 gene

A

20-50%

BRAC1> BRAC2

39
Q

what is the difference between a total (Simple) mastectomy and subcutaneous mastectomy

A

subcutaneous is nipple preserving

40
Q

what are some minor features of neurofibromatosis type 1

A

Macrocephaly (big head) Short stature
Dysmorphic facial features- “Noonan look” - Epilepsy Scoliosis - Psuedoarthrosis of tibia (cyst– fracture prone)
Learning difficulties
Raised BP - due to renal artery stenosis or phaechromocytoma
Neoplasia - CNS (optic gliomas), endocrine tumours, sarcomatous changes

41
Q

what are the 4 principles of ethics

A

respect for autonomy
non malificence
benificence
justice

42
Q

what type of mutations cause cancer family syndromes

A

germline

43
Q

if there is a germline mutation in a parents egg or sperm, how will it manifest in the child

A

all cells affected in offspring

44
Q

when should people with FAP get their colon removed

A

30

45
Q

to what degree of relative should relatives be referred to genetics

A

1- 1/2
2- 1/4
3- 1/8

46
Q

how would you investigate tuberous sclerosis

A

Clinical examination – skin signs (UV woods lamp, nails), retinal examination
Cranial MR scan
Renal ultrasound – for angiomyolipomata
Echocardiogram – for rhabdomyomas

47
Q

what sit the process of the genetic clinic for cancer

A 
Obtain detailed family history-
Confirm diagnoses of cancer
Risk estimation – explain basis
Counselling
Interventions - Increased awareness of symptoms/ signs
Lifestyle – diet, smoking, oestrogen use
Screening
Prophylactic surgery 
Genetic testing – consider in high risk
48
Q

what is meant by a multifactorial etiological conditions

A

a polygeneic genetic component interacting with environmental factors

49
Q

what are common problems in multi-system disease

A

variable expression within families
present to many different specialities
family history often missed

50
Q

what type of tissue do somatic mutations occur in

A

non - germline

51
Q

cancer genes are intragenic - what does this mean

A

associated with coding DNA

52
Q

how does Li- fraumeni syndrome typically present in kids

A

soft tissue sarcoma

53
Q

what tissues do germline mutations occur in

A

egg or sperm

54
Q

is HNPCC AD or Ar

A

AD

55
Q

what is meant by multistep carcinogenesis

A

accumulation of genetic damage causes tumour with metastatic potential

56
Q

what is the classic triad of tuberous sclerosis

A

epilepsy, learning, difficulty, skin lesions

57
Q

what is the difference between FAP and HNPCC

A

FAP - carpet of polyps in bowel

HNPCC - small number of polyps but still high chance of cancer

58
Q

in autosomal dominant inheritance, what is the chance of inheriting the mutation

A

50%

59
Q

Is BRAC AD or Ar

A

AD

60
Q

what benign tumour is seen in many organs in tuberous sclerosis

A

hamartomas

61
Q

give an example of a condition with multistep carcinogenisis

A

colon cancer

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