Who & What to Test

Question 1

what is the difference between germ-line and somatic?

Answer 1

germ-line= inherited
somatic= mutation that occurred during cell division

Question 2

what are 3 damages to DNA that can cause cancer?

Answer 2

DNA strand damage
UV or chemical cross-linking
mismatched bases

Question 3

difference between driver and passenger mutations?

Answer 3

driver- mutations that drive carcinogenesis

passenger- incidental mutations that happen because tumour is unstable

Question 4

examples of driver mutations?

Answer 4

• inactivating tumour supressor genes (eg retinoblastoma)
• activating oncogenes (melanoma e.g. BRAF activates KRAS, Philadelphia chromosome translocation)
• mutations in DNA repair pathways (MLH1 protein (bowel cancer)

Question 5

recap: what is a mandelian disorder?

Answer 5

rare but very high penetrance

Question 6

BRCA1 gene mutation causes…

Answer 6

familial breast cancer

Question 7

what is BRCA1

Answer 7

a DNA repair protein

Question 8

if you have BRCA1 mutation you are…

Answer 8

high risk

Question 9

if your mother and sister with breast cancer at 45 you are…

Answer 9

medium risk

Question 10

if your mother had breast cancer at 70 you are..

Answer 10

low risk

Question 11

imaging is used for…

Answer 11

• screening (eg. mammography)
• diagnosis (can be targeted to look for a specific cancer)
• staging (CT/ MRI & IV contrast or PET for mets)
• follow up (CT & PET)

Question 12

describe different types of metastases and their appearance…

Answer 12

 Liver mets: often multiple
 Lung mets: rounded, multiple, basal predominant
 Bone mets: ill defined, lytic or sclerotic, multiple or solitary, inc risk of fracture (bone scan, MRI)
 Brain mets: multiple more common, disproportionate amount of oedema, mass lesions