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Clinical genetics Flashcards

(43 cards)

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1
Q

When to refer for genetic testing?

A

when P>0.95 for likelihood for genetic disease

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2
Q

What type of inheritance does cancer syndrome usually follow?

A

Autosomal dominant

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3
Q

Genetic predisposition more likely …

A 
– Young age at diagnosis 
– Multiple tumours 
– Family history
 – Rare tumours
 – Site of cancer
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4
Q

What cancers do a VHL mutation cause?

A
  • RCC
  • Pheo…
  • cysts
  • retinal angioma
  • Cerebellar haemogioblastoma
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5
Q

What type of gene is VHL?

A

Tumour supressor

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6
Q

What does VHF inhibit or ubiquinate in wt?

A

Heat inducible factor (HIF)

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7
Q

What does Heat inducible factor (HIF) do?

A

EPO production leading to angiogenesis and inflammation as well as inhibition of apoptosis

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8
Q

What medications are effective in VHL and RCC?

A

Tyrosine kinase inhibitors

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9
Q

What cancers do Birthings Hogg Dube syndrome cause?

A
  • Renal tumours
  • Cutaneous manifestations
  • Lung cysts and pneumothorax
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10
Q

What mutation is related to Birthings Hogg Dube?

A

FLCN gene

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11
Q

How does FLCN mutation lead to mutation and oncogenesis?

A

mutation of FCLN stops binding to AMPK which inhibits mTOR therefore allowing proliferation etc. to occur.

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12
Q

What is HLRCC?

A

hereditary leiomyomatosis and RCC

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13
Q

What cancers is HLRCC related to?

A
  • Cutaneous Leiomyomata
  • Uterine leiomyomata
  • RCC
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14
Q

What is a leiomyomata?

A

smooth muscle cancer. Like fibroids

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15
Q

What mutation is in HLRCC?

A

fumarate hydratase (FH) which is essential for fumarate production from krebs.

fumarate stabilises HIF

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16
Q

What roll does fumarate hydratase have in oncogenesis?

A

Tumour supressor

reduces production of fumarate which stabilises HIF1a. Mutation enables hypoxic drive.

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17
Q

What cancers are related to Hereditary papillary RCC?

A

ARE YOU STUPID

RCC obvs

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18
Q

What mutation causeHereditary papillary RCC?

19
Q

How are the two types of MEN acquired?

Study These Flashcards
A

MEN T2a is inherited MENTb is not inherited

20
Q

What mutation causes MEN 2A?

21
Q

What childhood condition is associated with MEN2A?

Study These Flashcards
A

Hirschprungs disease

22
Q

What cancers are related to MEN2A?

Study These Flashcards
A
  • Medullary thyroid carcinoma
  • Pheochromocytoma
  • Hyperthydoidism
23
Q

What prophylaxis surgery is used in MEN2A?

Study These Flashcards
A

Paediatric Prophylactic thyroidectomy

24
Q

What cancers are related to MEN2A?

Study These Flashcards
A

Those of MEN2A and mucousal neuromas

May also have marfoid habitus

25
What does RET gene code for?
receptor tyrosine kinase which is expressed in all neuroendocrine cells.
26
What is gene is responsible for Gorlin's syndrome?
PATCHED gene involved in sonic hedgehog pathway
27
What symptoms are present in Gorlin's syndrome?
- BCC - naIve - cranial and rib abnormalities - many more..
28
What symptoms are part of neurofibromatosis 2?
Like NF1 with skin changes and deformed bones but with additional CN8 symptoms
29
What treatment is given for acoustic neuromas in NF2?
VEGF inhibitor - bevacizumab
30
What is the mutation in FAP?
APC
31
What criteria is used to diagnose lynch?
Modified amsterdam criteria
32
What does the NICE pathway follow to confirm germline lynch mutation?
1. MSI +ve 2. BRAF -ve 3. MLH1 promotor hypermethylation -ve
33
What tumours are BRCA related to?
Breast Ovarian male prostate and breast
34
What condition is related when both BRCA are mutated?
Fanconi mutation
35
What medications are good with BRCA mutations?
PARP inhibitors Cisplatin Exploit poor DNA repair mechanism
36
What cancer are related to Cowden syndrome?
Hamartomas | Increased risk of BC, thyroid and endometrial
37
What symptoms might Cowden syndrome have?
Gi polyps | mucocutanoeus features
38
What syndrome is rated to a TP53 mutation?
Li-Fraumeni Syndrome
39
What cancers are related to the Li-Fraumeni Syndrome?
Sarcomas Adrenocortical breast Brain
40
what mutations are associated with Squamous NSCLC?
FGFR1 amplification | PI3K
41
What mutations are associated with adenocarcinoma NSCLC?
EDFR | KRAS
42
What somatic mutation is associated with immune resistant NSCLC?
LKB1 mutation
43
What EGFR change is associated with the best outcome in NSCLC?
Exon 19 deletion (more than WT)

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