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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
what age do people with lynch syndrome typically present
45 years
26
what sex is affected by X linked conditions
males
27
do AD mutations have skipped generations
no
28
do people who are medium risk of hereditary cancer get additional screening
yes - increased frequency
29
what gene is affected in Neurofibromatosis type 1
17q - tumour supressor gene
30
list some possible chromosomal models of inheritance
translocations deletions/ micro deletion numerical
31
what is the lifetime risk of breast cancer if you have the BRAC1/2 gene
60-80%
32
what mutation is seen in myotonic dystrophy
CTG repeat in chromosome 19, exhibits anticipation (increasing repeats) with increasing severity in each generation
33
what cancers are increased in males who have the BRAC2 gene
prostate | breast
34
name 3 diseases that have a genetic aetiology with germ line variations present in every cell (AD)
NF1 myotonic dystrophy tuberous sclerosis
35
what genes cause tuberous sclerosis
TSC 1 | TSC 2
36
do people who are high risk of hereditary cancer get additional screening
yes + gene testing
37
what are clinical features of tuberous sclerosis
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
what is the lifetime risk of ovarian cancer if you have the BRAC1/2 gene
20-50% | BRAC1> BRAC2
39
what is the difference between a total (Simple) mastectomy and subcutaneous mastectomy
subcutaneous is nipple preserving
40
what are some minor features of neurofibromatosis type 1
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
what are the 4 principles of ethics
respect for autonomy non malificence benificence justice
42
what type of mutations cause cancer family syndromes
germline
43
if there is a germline mutation in a parents egg or sperm, how will it manifest in the child
all cells affected in offspring
44
when should people with FAP get their colon removed
30
45
to what degree of relative should relatives be referred to genetics
1- 1/2 2- 1/4 3- 1/8
46
how would you investigate tuberous sclerosis
Clinical examination – skin signs (UV woods lamp, nails), retinal examination Cranial MR scan Renal ultrasound – for angiomyolipomata Echocardiogram – for rhabdomyomas
47
what sit the process of the genetic clinic for cancer
``` 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
what is meant by a multifactorial etiological conditions
a polygeneic genetic component interacting with environmental factors
49
what are common problems in multi-system disease
variable expression within families present to many different specialities family history often missed
50
what type of tissue do somatic mutations occur in
non - germline
51
cancer genes are intragenic - what does this mean
associated with coding DNA
52
how does Li- fraumeni syndrome typically present in kids
soft tissue sarcoma
53
what tissues do germline mutations occur in
egg or sperm
54
is HNPCC AD or Ar
AD
55
what is meant by multistep carcinogenesis
accumulation of genetic damage causes tumour with metastatic potential
56
what is the classic triad of tuberous sclerosis
epilepsy, learning, difficulty, skin lesions
57
what is the difference between FAP and HNPCC
FAP - carpet of polyps in bowel | HNPCC - small number of polyps but still high chance of cancer
58
in autosomal dominant inheritance, what is the chance of inheriting the mutation
50%
59
Is BRAC AD or Ar
AD
60
what benign tumour is seen in many organs in tuberous sclerosis
hamartomas
61
give an example of a condition with multistep carcinogenisis
colon cancer

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