genetic predisposition

Question 1

what are gremlin mutations ?

Answer 1

inherited from single egg or sperm

cause family cancer syndromes

Question 2

what are somatic mutations ?

Answer 2

occur in nongermline tissue

non heritable

Question 3

what is the leukaemia oncogene ?

Answer 3

ABL

Question 4

what is Lynch syndrome ?

Answer 4

hereditary non-polyposis colon cancer
mismatch repair
early proximal colon tumours

Question 5

what are signs of a hereditary cancer syndrome ?

Answer 5

cancer in 2 or more close relatives
early age at diagnosis
multiple primary 
bilateral/multiple rare cancer
characteristic tumour pattern

Question 6

how do you test for Lynch syndrome ?

Answer 6

IHc for mismatch repair

microsatellite instability testing

Question 7

what are benefits of genetic testing ?

Answer 7

identifies highest risk
identifies non-carriers
allows early detection and prevention
may relieve anxiety

Question 8

what are risk and limitations to genetic testing ?

Answer 8

does not detect all mutations
continued risk of sporadic cancers
efficacy of intervention variable
may result of psychosocial/economic harm

Question 9

what cancers make up Li-Fraumeni syndrome ?

Answer 9

sarcoma
breast
leukaemia
adrenal gland