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RACP 2022 Written > Genes > Flashcards

Genes Flashcards

1
Q

AmpC

A

ESCAPPM - inducible cephalosporinase

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2
Q

APC

A

Familial adenomatous polyposis
Signal tranduction
Large intestinal tumours

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3
Q

BRAF

A

Serine/threonine kinase
Point mutation leads to melanoma, Colorectal and lung cancer

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4
Q

BRAC1,BRAC2

A
  • DNA repair
  • Hereditary breast and ovarian cancer
  • sporadic: breast, ovarian, prostate, pancreatic, colon cancer. BRCA1 more OvCa risk usual triple neg, BRAC2 more male Breast Ca
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5
Q

Calreticulin

A

Positive in JAK2 -ve myofibrosis (67%) and essential thrombocythaemia (88%)

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6
Q

CD34

A

Assess quality of stem cells in HSCT

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7
Q

CD55/59

A

Paroxysmal Nocturnal haemaglobinuria

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8
Q

CDH1

A
  • Cell adhesion
  • Hereditary diffuse gastric cancer
  • Diffuse gastric cancer, lobular breast cancer, endometrial, ovarian, prostate cancer
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9
Q

CDKN2A

A

-Cell cycle control
- Melanoma astrocytoma Sx + Melanoma panc cancer
- Head neck SCCs, melanoma, brast lung

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10
Q

cKIT D816

A

Systemic mastocytosis

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11
Q

C-MYC

A
  • Transcription factor
  • Amplification leads to breast, colon, gastric, lung cancer
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12
Q

del(11q)

A

Traditionally bad prognosis CLL, but improved with fludarabine + ritux + cyclo

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13
Q

del(13q) & trisomy 12

A

Good prognosis CLL

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14
Q

del(5q)

A

Treat with lenalidomide for MDS (best prognosis).
Poor prognosis in AML

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15
Q

del (7q)

A

Bad prognosis for MDS

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16
Q

FLT3/ITD

A

Worst prognosis AML

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17
Q

GATA2,PIGA

A

Good prognosis after allograft in MDS

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18
Q

Inv (16)

A

Good prognosis AML

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19
Q

KRAS

A

point mutations in melanoma, colorectal and AML

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20
Q

mecA

A

MRSA

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21
Q

MET

A

point mutations osteosarcoma, kidney and glioma

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22
Q

MLH1, MSH2, MSH6, PMS2

A
  • DNA repair
  • Lynch syndrome (MSH2 most common) - less polyps assoicated with endometrial cancer as well.
  • Colon, endomerial, gastic, SI and urothelial
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23
Q

MYD88

A

Waldenstrom’s macroglobulinaemia

24
Q

p16 and HPV

A

Good prognosis for oropharyngeal SCC

25
Q

p-loop mutation

A

mutant BCL-ABL
switch to 2nd gen TKI: dasatanib or nilotinib.

26
Q

SMAD4

A

Juvenile polyposis syndrome
cholangiocarcinoma, pancreatic colon cancers

27
Q

t (11:14)

A

Mantle cell lymphoma
CD19. CD20, CD5, FMC7, BCL1

28
Q

t (14:18)

A

Follicular lymphoma (85% cases)

29
Q

t (15:17)

A

APML best prognosis (85% cure rate)

30
Q

t (8;21)

A

secondn best prognosis for AML (55% cure rate)

31
Q

t(9:22)

A

BCR-ABL
Good for CML, Bad for AML

32
Q

TP53

A

Cell cycle control
Li Fraumini syndrome - half of all sporadic colorectal cancers

33
Q

VHL

A

Von Hippel-Lindau syndrome
> Renal cell carcinoma, paraganglioma/phaeochromocytoma

34
Q

HLA-A3

A

Haemachromatosis

35
Q

HLA-A-3101 and HLA-B1502

A

Carbamazepine hypersensitivity

36
Q

Group of patients that benefit from cycling depended kinase

A

Benefit in ER+ and HER2 negative.
Combo of cdk inhibitor and letrazole.

37
Q

Most common defect in LDL familial hyperchol?

A

Gnetic defect in LDL receptor
tendon xanthomas
typical fam hx early CVD

38
Q

Elevated HDL

A

Tangier disease due to ABC1 gene mutation, first line treatment fibrates

39
Q

Triglycerides 3 main groups causes?

A

1- familiar - pancreatitis
2 - Lipoprotien lipase def - eruptive zanthomas, lipaemi retinalis in childhood. TG not improved with FFP
3. Apoprotien C deficiency - TG improves with FFP

40
Q

Event assoc with wave in JVP
A wave
- cannon a waves
- large:
C wave
V wave
x descent
y descent

A

A wave: atrial contraction
- cannon a waves: atria contraction agisnt closed TV: complete heart clock, VT, dodal rhythm’
- absent: AF
- large: if atrial pressure - TS, PS, PHTN
C wave - closure of TV
V wave - volume filling atria agaisnt closed TV
x descent - fall in atrial pressure during vent systole
y descent - opening of TV valve.

41
Q

Types of infarction
1, 2, 3, 4a, 4b, 5

A

1: embolism
2: demand
3 sudden death
4 a related to intervention b thrombosis of stent
5 infarction duet o CABG

42
Q

Timing of systolic murmurs
Early
Mid systolic ejection
Holo/pansystolic
Late systolic

A

Early: MR TR VSD
Mid systolic ejection: AS
Holo/pansystolic: MR, TR, VSD
Late systolic: Mitral valve prolapse, TV prolapse

43
Q

Timing of Diastolic Murmur?
early, mid-diastolic, Late diastolic

A

Early: AR PR
Mid-diastolic MS, TS, Atrial myxoma
Late diastolic, MS, TS, Atrial Myxoma, Complete heart block

44
Q

MYC T(8;14)

A

Burkits Lymphoma

45
Q

Specific for intravascular heamolysis

A

Haemaglobinuria

46
Q

Spec for immune/complex mediated

A

Positive Coombs

47
Q

SOD1

48
Q

PMP22

A

Hereditary motor and sensory neuropathy

49
Q

Dystrophin

A

Muscular dystrophy

50
Q

SERPINA1

A

Alpha-1 antitrypsin

51
Q

HTT

A

Huntingtons

52
Q

DMPK

A

Myotonic dystrophy

53
Q

FBN1

A

Marfan Syndrome

54
Q

PTPN11

A

Noonan syndrome

55
Q

NOTCH

RACP 2022 Written (21 decks)

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