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Year 3 specialities (JK) > Genetic lectures 1-3 > Flashcards

Genetic lectures 1-3 Flashcards

1
Q

% of breast and ovarian cancer which is sporadic, hereditary and breast cancer family clusters

A

Breast - 15/20% clusters and 5-10% hereditary

ovarian is 5-10% hereditary

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2
Q

colorectal cancer % of each cause

A

65-85% sporadic
10-30% familial
5% HNPCC, FAP

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3
Q

oncogenes problem

A

problem leads to uncontrolled cell growth

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4
Q

where do oncogenes, DNA repair genes and tumour suppressor genes work in the cell cycle?

A

oncogenes between G1 and G0
TSG - between GO and S
DNA - between S and G2

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5
Q

Germline mutations

A

mutation in sperm or egg which are heritable
cancer family syndromes
all cells affected in offspring

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6
Q

somatic mutations

A

occur in non germline tissues and are nonheritable

eg breast

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7
Q

oncogene mutations

A

1st mutation leads to accelerated cell division and 1 mutation is sufficient for role in cancer development

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8
Q

Example of diseases with oncogene mutations

A

leukaemia oncogene ABL - BCR ABL fusion protein

retinoblastoma

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9
Q

tumour suppressor genes mutation

A

susceptible carrier and 2nd mutation or loss of normal genes leads to cancer

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10
Q

HNPCC - what is the mutation?

A

mismatch repair genes

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11
Q

HNPCC

A

excess of CRC, endometrial, ovarian, gastric and urinary tract cancers
adenoma carcinoma sequence

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12
Q

Tumours in HNPCC

A

proximal colon

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13
Q

BRCA 1 and 2 and lifetime risk of breast and ovarian ca

A

breast: 60-80%
secondary primary breast: 40-60%
ovarian: 20-50%

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14
Q

Males and BRCA2

A

prostate and breast cancer

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15
Q

when to suspect hereditary cancer syndrome?

A 
autosomal dominant 
early age at diagnosis 
more than 2 close relatives 
multiple and rare cancers - bilateral 
characteristic pattern eg breast or ovarian
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16
Q

Cancer genetics process

A 
obtain detailed accurate FH 
confirm diagnoses of cancer 
risk estimation 
counselling 
interventions eg signs/lifestyle/prophylaxis 
genetic testing
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17
Q

Breast cancer surveillance options

A

breast awareness
early clinical surveillance 5yrs less than 1st age of cancer in the family
- annual breast exams
- mammography 2yrs 35-40, 1yr 40-50
high risk mammography 18monthly from 50-64
MRI at highest risk

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18
Q

prophylactic mastectomy

A

removes most but not all breast tissue
decreases breast cancer risks
total removes more than subcutaneous

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19
Q

prophylactic oophorectomy

A

eliminates risk of primary ovarian cancer
peritoneal carcinomatosis may occur
laparascopic, HRT until 50

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20
Q

benefits of genetic testing

A

identifies highest risk
identify non-carriers
early detection and prevention
may relieve anxiety

21
Q

Risks and limitations of genetic testing

A

does not detect all mutations
sporadic cancer
efficacy for interventions
psychosocial/economic

22
Q

li-fraumenti syndrome

A

TP53 mutations
soft tissue sarcoma, leukaemia, brain tumour
whole body MRI, breast screening

23
Q

modes of inheritance for multisystem disorders

A

new mutations or inherited
chromosomal
single gene disorders
multifactorial

24
Q

numerical and structural chromosomal mutations

A

numerical eg trisomy 21

structural eg translocation

25
Q

single gene disorders

A

AD
AR
x-linked

26
Q

multifactorial genetic conditions

A

polygenic

environmental

27
Q

Common problems of multisystem disorders

A

variable expression
large variety of specialities
FH easily missed

28
Q

NF1, TS and mytonic dystrophy inheritance

A

Autosomal dominant

29
Q

criteria for NF1 diagnosis and how many are needed?

A 
café au lait spots - 6 or more 
neurofibromas 
axillary freckling 
lisch nodules, optic gliomas 
thinning long bone cortex 
FH
30
Q

Further features of NF1

A

macrocephaly, learning difficulties, epilepsy
short stature, noonan look
high bp - renal artery stenosis, phaechromocytoma
CNS and endocrine neoplasia
pseudoarthritis of tibia

31
Q

diagnosis of NF1

A

clinical

32
Q

managing NF1

A

annual review - bp, spine, eyes, tibia

33
Q

Genetics of NF1

A

variable expression - 17q (tumour suppressor genes)

50% due to new mutation

34
Q

NF1 and NF2

A

NF2 has acoustic neuroma, CNS and spinal tumours

chromosome 22

35
Q

classic triad of TS

A

epilepsy
learning disability
skin lesions

36
Q

genes in TS

A

1 in 700 - AD
variable expression
TSC1 and TSC2
almost full penetrance - on scans

37
Q

Clinical features of TS

A

multisystem
variable expression - asymptomatic
40% learning difficulty
seizures - infantile spasms, myoclonic

38
Q

Other features of TS

A

skin lesions eg depigmented macules, angiofibromas, shagreen patches, fibrous plaques forehead, subungual fibroma
kidney - cysts and angiomyolipomata
phakomas in eye - benign unless on macula
rhabdomyomas in heart

39
Q

Screening at risk of TS relatives

A

skin, woods lamp, nails, cranial MRI, echo, Renal USS

40
Q

myotonic dystrophy genetics

A

AD, CTG repeat on chromosome 19, anticipation

41
Q

myotonic dystrophy signs

A

bilateral late onset cataracts
muscle weak, stiff, myotonia
decreased motivation, IBS, DM
heart block

42
Q

Why are adults referred to genetics?

A 
diagnosis 
predictive testing 
carrier test 
cascade screening 
FH 
fetal loss or recurrent miscarriage
43
Q

what prediction testing can and must not be used for

A

usable to prevent or treat disease
3rd parties no access
children only tested if it benefits them
counselling

44
Q

SOD enzyme

A

catalyses intracellular superoxide radicals conversion which damage nerve cells
motor neurons express this enzyme highly

45
Q

Where are SO1-3 found and what metals?

A 
1= cytoplasm and 3 = extracellular --> Cu, Zn
2 = mitochondria --> manganese
46
Q

Huntingtons genetics

A

CAG expansion

47
Q

advantages of predictive testing

A

uncertainty removed
if -ve = concerns reduced
if +ve = plan, surveillance, inform children

48
Q

disadvantages of predictive testing

A

if +ve = remove hope, when?, risk to offspring

if -ve = survivor guilt

Year 3 specialities (JK) (16 decks)

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