RACP-Genetics

Question 1

A 25 male presents with cafe au lait spots and axillary freckles. He has a family history of neurofibromatosis type 1. He has a supraclavicular mass which has increased in size over 2 months from barely noticeable to 5x3x3cm. It is painful and non-mobile. There is no associated weight loss or fevers. What is the likely diagnosis?

A. Lipoma
b. Malignant neurofibroma
C. Metastatic thyroid cancer
D. Neurofibroma
E. Lymphoma

Answer 1

B- malignant neurofibroma
classically rapidly growing and painful in young people

Question 1

A couple are known to have both been diagnosed with α-thalassaemia trait. They come to you to seek counsel with regards to the outcome for having a child. Given their genetic profile, which of the following could their child suffer from?
a) Hb F disease
b) Hb H disease
c) Sickle Cell anaemia
d) β-Thalassaemia
e) Hb E disease

Answer 1

b) Hb H disease

Question 2

What is the most common cardiac abnormality in Turner’s syndrome?

A. Atrial septal defect
B. Bicuspid aortic valve
C. Coarctation of aorta
D. Partial anamolous pulmonary drainage system
E. Pulmonary stenosis

Answer 2

B- bicuspid aortic valve

Question 3

What is the main cause of infertility in male patients with cystic fibrosis?

A) Ciliary dysfunction
B) Drug side effects
C) Gonadal dysgenesis
D) Obstructive azoospermia
E) Zinc deficiency

Answer 3

D) Obstructive azoospermia

Question 4

What is the genetics behind ALK mutation for NSCLC:

A. Chromosomal rearrangement
B. Point mutation
C. Deletion
D. Insertion
E. Trisomy

Answer 4

A. Chromosomal rearrangement

novel EML4-ALK fusion oncogene. Inversion in chromosome 2 that fuses EML4 gene with ALK gene

Question 5

2. Which gene for haemachromatosis
   A) C282Y
   B) DeltaF508
   C) H63D

Answer 5

A) C282Y

DeltaF508 –> cystic fibrosis
H63D –> a type of HFE, associated with hereditary haemachromatosis

Question 6

2021

Q21. What is the mutated haemoglobin in sickle cell anaemia?
A. Alpha
B. Beta
C. Zeta
D. Epsilon

Answer 6

B-Beta

Question 7

2021

Q43. A 65 year old female has a right hemicolectomy for colon cancer. Her brother was diagnosed with colon
cancer aged 60. The histopathology showed mucinous adenocarcinoma with high satellite Instability. Which of the
following mutations would support a sporadic disease mutation rather than familial lynch syndrome?
A. BRAF
B. EGFR
C. Kras
D. PI3K

Answer 7

A. BRAF

BRAF mutations, especially V600E, are associated with sporadic colorectal cancers, often linked to MLH1 promoter methylation, rather than Lynch syndrome