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Endocrine: Basic Science > Genetics > Flashcards

Genetics Flashcards

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1
Q

what are monogenic disorders caused by?

A

single gene

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2
Q

six patterns of monogenic disorder inheritance?

A 
AD
AR 
XLD
XLR
Y-linked
mitochondrial
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3
Q

what causes polygenic diseases

A

multiple genes with environmental influences

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4
Q

genetic abnormalities that lead to monogenic disease

A
  • single nucleotide variants (SNVs)
  • small insertions and deletions (indels)
  • loss of function mutations
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5
Q

examples of single nucleotide variants (SNVs)

A

missense
nonsense
splice site alteration

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6
Q

what can indels cause?

A

in-frame or out-of frame mutations

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7
Q

examples of loss of function mutations

A

nonsense
frameshift
canonical splice site mutations

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8
Q

benefits of genetic testing

A

patient
first degree relative and/or progeny
research and future clinical studies

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9
Q

negative impacts of genetic testing

A 
fear over positive results
anxiety regarding family
discrimination (work/insurance)
false positives
secondary findings
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10
Q

approaches to genetic testing

A

first generation

next generation sequencing

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11
Q

two examples of monogenic endocrine tumour syndromes

A

MEN1

MEN2a/b

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12
Q

presentation of MEN1

A 
3P's
parathyroid
pancreatic
pituitary tumours
but there can be numerous others too
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13
Q

genetics of MEN1

A

AD mutation in MEN1 gene located 11q13 (tumour suppressor)

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14
Q

negative consequences of MEN1

A

premature morbidity

considerable psychological burden

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15
Q

when is genetic testing indicated for MEN1?

A

presentation suspicion

first degree relative is known to have it

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16
Q

when should testing begin for MEN1?

A

from age 5

17
Q

management of MEN1

A

expectant approach

18
Q

genetics of MEN2

A

AD mutation in the RET gene on 10q which is a proto-oncogene leading to activation of receptor tyrosine kinase

19
Q

classification of MEN2

A
  • MEN2a

MEN2b

20
Q

presentation of MEN2a

A

medullary thyroid cancer with phaeochromocytoma and parathyroid tumours

21
Q

presentation of MEN2b

A 
less frequent
MTC
phaeochromocytoma 
marfanoid habitus
mucosal neuromas
medullated corneal fibres
intestinal autonomic ganglion dysfunction
22
Q

presentation of MEN2

A

neck mass
diarrhoea and flushing (metastatic disease)
ectopic ACTH and Cushing’s
risk of overactive parathyroid glands

23
Q

diagnosis of MEN2

A

USS-FNA
basal serum calcitonin and CEA
phaeochromocytoma has elevated urinary or plasma metanephrines
imaging to detect local and advanced disease

24
Q

management of MEN2

A

surgery or tyrosine kinase inhibitors

25
Q

what does the timing of prophylactic thyroidectomy in MEN2 depend on?

A

type of mutation

26
Q

other monogenic endocrine tumour syndromes

A
  • neurofibromatosis 1
  • von hippel lindau
  • carney complex
  • McCune-Albright
27
Q

presentation of neurofibromatosis 1

A 
axillary freckling
cafe au lait patches
neurofibromas
optic gliomas
scoliosis
learning difficulties (some)
phaeochromocytoma (rare)
28
Q

mutation in neurofibromatosis 1

A

NF1 gene

presents in childhood

29
Q

presentation of von hippel lindau (VHL)

A

multiple vascular tumour
surveillance done annually and family screening
accumulation of HIF proteins and stimulation of cellular proliferation

30
Q

mutation in VHL

A

VHL gene AD

31
Q

presentation of carney complex

A

spotty pigmentation of skin with endocrine and non-endocrine tumours

32
Q

mutation in carney complex

A

mutation in PRKAR1A leading to defect regulatory subunit and aberrant PKA signalling causing uncontrolled proliferation

33
Q

presentation of McCune Albright

A 
cafe au lait pigmentation (Coast of Maine appearance)
polyostotic fibrous dysplasia (bones)
precocious puberty (females)
thyroid nodules
pituitary GH excess
Cushings syndrome (adrenal)
34
Q

mutation in McCune Albright

A

post-zygotic GNAS mutation leading to constitutive adenylyl cyclase signalling and overproduction of several hormones
mosaicism

Endocrine: Basic Science (7 decks)

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