Young: Medical Genetics - Extended Matching Questions

Table of Contents

1. Chapter 1
   1. Question 1
   2. Question 2
2. Chapter 2
   1. Question 1
   2. Question 2
3. Chapter 3
   1. Question 1
   2. Question 2
4. Chapter 4
   1. Question 1
   2. Question 2
5. Chapter 5
   1. Question 1
   2. Question 2
6. Chapter 6
   1. Question 1
   2. Question 2
7. Chapter 7
   1. Question 1
   2. Question 2
8. Chapter 8
   1. Question 1
   2. Question 2
9. Chapter 9
   1. Question 1
   2. Question 2
10. Chapter 10
    1. Question 1
    2. Question 2
11. Chapter 11
    1. Question 1
    2. Question 2
12. Chapter 12
    1. Question 1
    2. Question 2
13. Chapter 13
    1. Question 1
    2. Question 2
14. Chapter 14
    1. Question 1
    2. Question 2

Question 2

Instructions: Each group of extended matching questions consists of lettered options followed by a list of numbered problems/questions. For each numbered problem/question select the one lettered option that is most closely answers the question. You can use the lettered options once, more than once, or not at all.

Theme: Familial cancer syndromes

Options:

1. APC
2. BRCA1
3. BRCA2
4. NF1
5. NF2
6. RB1
7. RET
8. TP53
9. VHL

Each of the following patients has a familial cancer syndrome. Based on the clinical features, select the gene that is likely to be responsible in each patient.

1

Scenario 1   A 14-year-old girl presents with a thyroid swelling, which is found to be a medullary carcinoma. The girl is noted to be unusually tall and thin. Choose... APC BRCA1 BRCA2 NF1 NF2 RB1 RET TP53 VHL This girl probably has multiple endocrine adenomatosis type 2B, due to a gain-of-function mutation in the RET proto-oncogene. See Page 197.Incorrect. See Page 197.Your answer has been saved.

2

Scenario 2   A 7-year-old boy with mild learning difficulties is noted at a routine examination to have a large number of brown 'birth marks'. Further examination shows that he has axillary freckling and that his head circumference is above the 97th percentile. Choose... APC BRCA1 BRCA2 NF1 NF2 RB1 RET TP53 VHL This history is typical of neurofibromatosis type 1, in which mild learning difficulties and macrocephaly are common. See Page 198.Incorrect. See Page 198.Your answer has been saved.

3

Scenario 3   A 32-year-old woman presents with a recent diagnosis of breast cancer. Her mother and an aunt were also affected. It has also recently emerged that a maternal great-uncle died at age 47 years as a result of a breast lump which he ignored as he did not believe that men could get breast cancer. Choose... APC BRCA1 BRCA2 NF1 NF2 RB1 RET TP53 VHL This strong family history of breast cancer with a probable affected male is most likely to be due to an inherited mutation in BRCA2. See Page 200.Incorrect. See Page 200.Your answer has been saved.

4

Scenario 4   A 20-year-old man presents with a history of rectal bleeding and recent change in bowel habit. Investigations reveal that he has several hundred small polyps scattered throughout his colon. Choose... APC BRCA1 BRCA2 NF1 NF2 RB1 RET TP53 VHL This man has familial adenomatous polyposis, sometimes referred to as 'polyposis coli'. This is usually caused by a mutation in the APC tumour suppressor gene. See Pages 195 and 198.Incorrect. See Pages 195 and 198.Your answer has been saved.

5

Scenario 4   A 20-year-old woman has noticed a hard lump in her left femur, just above her knee. The family history reveals that her mother and maternal grandfather both had an eye removed in early childhood because of a 'malignant growth'. Choose... APC BRCA1 BRCA2 NF1 NF2 RB1 RET TP53 VHL This history is very suggestive of hereditary retinoblastoma and the swelling in her femur is likely to be an osteosarcoma. Approximately 90% of children who inherit a germline mutation develop an eye tumour. Many heterozygotes go on to develop a secondary tumour later in life. See Page 200.Incorrect. See Page 200.Your answer has been saved.