Genes

Question 1

AmpC

Answer 1

ESCAPPM - inducible cephalosporinase

Question 2

APC

Answer 2

Familial adenomatous polyposis
Signal tranduction
Large intestinal tumours

Question 3

BRAF

Answer 3

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

Question 4

BRAC1,BRAC2

Answer 4

• 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

Question 5

Calreticulin

Answer 5

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

Question 6

CD34

Answer 6

Assess quality of stem cells in HSCT

Question 7

CD55/59

Answer 7

Paroxysmal Nocturnal haemaglobinuria

Question 8

CDH1

Answer 8

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

Question 9

CDKN2A

Answer 9

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

Question 10

cKIT D816

Answer 10

Systemic mastocytosis

Question 11

C-MYC

Answer 11

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

Question 12

del(11q)

Answer 12

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

Question 13

del(13q) & trisomy 12

Answer 13

Good prognosis CLL

Question 14

del(5q)

Answer 14

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

Question 15

del (7q)

Answer 15

Bad prognosis for MDS

Question 16

FLT3/ITD

Answer 16

Worst prognosis AML

Question 17

GATA2,PIGA

Answer 17

Good prognosis after allograft in MDS

Question 18

Inv (16)

Answer 18

Good prognosis AML

Question 19

KRAS

Answer 19

point mutations in melanoma, colorectal and AML

Question 20

mecA

Answer 20

MRSA

Question 21

MET

Answer 21

point mutations osteosarcoma, kidney and glioma

Question 22

MLH1, MSH2, MSH6, PMS2

Answer 22

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

Question 23

MYD88

Answer 23

Waldenstrom’s macroglobulinaemia

Question 24

p16 and HPV

Answer 24

Good prognosis for oropharyngeal SCC

Question 25

p-loop mutation

Answer 25

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

Question 26

SMAD4

Answer 26

Juvenile polyposis syndrome
cholangiocarcinoma, pancreatic colon cancers

Question 27

t (11:14)

Answer 27

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

Question 28

t (14:18)

Answer 28

Follicular lymphoma (85% cases)

Question 29

t (15:17)

Answer 29

APML best prognosis (85% cure rate)

Question 30

t (8;21)

Answer 30

secondn best prognosis for AML (55% cure rate)

Question 31

t(9:22)

Answer 31

BCR-ABL
Good for CML, Bad for AML

Question 32

TP53

Answer 32

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

Question 33

VHL

Answer 33

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

Question 34

HLA-A3

Answer 34

Haemachromatosis

Question 35

HLA-A-3101 and HLA-B1502

Answer 35

Carbamazepine hypersensitivity

Question 36

Group of patients that benefit from cycling depended kinase

Answer 36

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

Question 37

Most common defect in LDL familial hyperchol?

Answer 37

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

Question 38

Elevated HDL

Answer 38

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

Question 39

Triglycerides 3 main groups causes?

Answer 39

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

Question 40

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

Answer 40

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.

Question 41

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

Answer 41

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

Question 42

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

Answer 42

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

Question 43

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

Answer 43

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

Question 44

MYC T(8;14)

Answer 44

Burkits Lymphoma

Question 45

Specific for intravascular heamolysis

Answer 45

Haemaglobinuria

Question 46

Spec for immune/complex mediated

Answer 46

Positive Coombs

Question 47

SOD1

Answer 47

MND

Question 48

PMP22

Answer 48

Hereditary motor and sensory neuropathy

Question 49

Dystrophin

Answer 49

Muscular dystrophy

Question 50

SERPINA1

Answer 50

Alpha-1 antitrypsin

Question 51

HTT

Answer 51

Huntingtons

Question 52

DMPK

Answer 52

Myotonic dystrophy

Question 53

FBN1

Answer 53

Marfan Syndrome

Question 54

PTPN11

Answer 54

Noonan syndrome

Question 55

NOTCH

Answer 55

CADASIL