Cancer Syndromes

Question 1

Cowdens syndrome is associated with a mutation in which gene and is associated with which cancers?

Answer 1

PTEN gene, most common is breast but can also be associated with thyroid, endometrial, renal, CRC and skin.

Question 2

What is a missense mutation?

Answer 2

Single base pair substitution causing change in amino acid sequence.

Question 3

Which criteria is used for Lynch syndrome?

Answer 3

Amsterdam or Bethseda

Question 4

Is Lynch syndrome more likely to cause left or right sided tumours?

Answer 4

Right sided

Question 5

What proportion of patients with FAP will develop CRC?

Answer 5

All of them. Consider risk reducing surgery or annual colonoscopy with polypectomy.

Question 6

If CDH1 positive when should gastrectomy be considered?

Answer 6

In 20’s

Question 7

What is the risk of developing gastric cancer with HDGC?

Answer 7

70% for men and 56% for women

Question 8

When should prostate screening start in BRCA2 +ve men?

Answer 8

Age 40

Question 9

BAP1 is linked to which cancers?

Answer 9

BRCA associated gene 1 is linked to cutaneous and uveal melanomas, RCC and mesothelioma.

Question 10

What is the most common genetic cause for clear cell renal cancer?

Answer 10

Von-Hippel Lindau

Question 11

Which condition is characterised by the development of cutaneous and uterine leiomyomas and RCC? Which gene is affected?

Answer 11

Hereditory leiomyomatosis and RCC, gene is fumerate hydratase

Question 12

Which mutations have been associated with hereditory papillary renal cell carcinoma?

Answer 12

MET, but also mutated in around 10% sporadic RCC. Characterised by multifocal bilateral T1 papillary RCC

Question 13

What is the most common hereditory cause of pancreatitis?

Answer 13

PRSS1 (increased risk of pancreatitis due to chronic inflammation)

Question 14

Which tumours are seen in MEN1?
4x P, A, N, G

Answer 14

Parathyroid, Pancreas, Pituitary, Adrenal, NET, Phaechromocytoma, Gastrinoma

Question 15

Which tumours are seen in MEN2?
MTPP

Answer 15

Medullary thyroid, parathyroid and phaechromocytoma.

Question 16

What kind of gene is PTEN

Answer 16

Tumour suppressor gene

Question 17

What kind of gene is p53?

Answer 17

DNA repair gene

Question 18

What kind of gene is APC?

Answer 18

Tumour suppressor gene

Question 19

What kind of gene is MET?

Answer 19

Oncogene

Question 20

BRCA1 is responsible for what percentage of hereditary breast cancer cases?

Answer 20

45%

Question 21

When should breast surveillance start and end in BRCA positive women?

Answer 21

Starts at 25yo with MRI screening (if 8% 10 year risk), 40-50yrs MRI and mammogram. Above 50 May move to mammography only usually. Continue until 71.

Question 22

As well as women with hereditary causes of breast cancer, who else is eligible for screening as per BRCA protocol?

Answer 22

Women who have had RT to breast tissues between 10-19yrs. Screening starts either at 25 or 8 years following irradiation (whichever is later). Same rule for breast irradiation ages 20-35.

Question 23

How does breast screening differ for Li-Fraumeni syndrome?

Answer 23

MRI only, starts at 20yo

Question 24

Whilst PTEN is associated with Cowdens it is also a common somatic mutation. In which cancers are somatic mutation most likely to be seen?

Answer 24

Endometrial and GBM

Question 25

Which cancers are strongly associated with obesity?

Answer 25

Oesophageal adeno, endometrial, breast and RCC

Question 26

Which cancers are strongly associated with obesity?

Answer 26

Oesophageal adeno, endometrial, breast and RCC

Question 27

NTRK mutations are most commonly found in which adult malignancy?

Answer 27

Papillary thyroid cancer

Question 28

NTRK mutations are most commonly found in which adult malignancy?

Answer 28

Papillary thyroid cancer

Question 29

Kaposi sarcoma is linked to which virus? How does it typically present

Answer 29

HHV 8. Predominantly present at mucocutaneous sites. HIV not a direct causative agent but allows for an environment where HHV can cause.

Question 30

What are some of the major cancer types seen in Li-Fraumeni syndrome?

Answer 30

Soft and bone tissue sarcomas, breast, brain tumours, ACC and acute leukaemias

Question 31

Turcot syndrome is characterised by the occurrence of which two subtypes of cancer?

Answer 31

CRC and primary brain tumours