Oncology

Question 1

PTEN mutation

Answer 1

Cowden syndrome, multiple hamartomatous lesions, cancer of breast, endometrium, kidney, thyroid

Question 2

multiple hamartomatous lesions, cancer of breast, endometrium, kidney, thyroid

Answer 2

Cowden syndrome, PTEN mutation

Question 3

breast cancer, sarcoma, glioblastoma, adrenocortifal cancers

Answer 3

Li-Fraumeni syndrome, p53 mutation

Question 4

STK11 mutation

Answer 4

Peutz-Jeghers syndrome, hyperpigmented mucocutaneous spots, bowel hamartomas, cancers of GI tract, pancreas, liver, breast, endometrium, ovary

Question 5

hyperpigmented mucocutaneous spots, bowel hamartomas, cancers of GI tract, pancreas, liver, breast, endometrium, ovary

Answer 5

Peutz-Jeghers syndrome, STK11 mutation

Question 6

ATM mutation

Answer 6

ataxia-telangiectasia, neurologic/vasculocutaneous findings, increased risk of breast ca, lymphoma, leukemia

Question 7

neurologic/vasculocutaneous findings, increased risk of breast ca, lymphoma, leukemia

Answer 7

ataxia-telangiectasia, ATM mutation

Question 8

breast, ovarian, fallopian tube, pancreas, prostate, melanoma

Answer 8

BRCA2

Question 9

pituitary adenoma, parathyroid hyperplasia, pancreas ca

Answer 9

MEN1, MEN1 gene

Question 10

parathyroid hyperplasia, pheochromocytoma, medullary thyroid

Answer 10

MEN2a, RET proto oncogene

Question 11

mucosal neuromas, marfanoid body habitus, pheochromocytoma, medullary thyroid

Answer 11

MEN2b, RET proto oncogene

Question 12

What is the difference between MEN1, MEN2a, MEN2b

Answer 12

MEN1: pituitary adenoma, parathyroid hyperplasia, pancreas ca, MEN2a parathyroid hyperplasia, pheochromocytoma, medullary thyroid, MEN2b mucosal neuromas, marfanoid body habitus, pheochromocytoma, medullary thyroid

Question 13

initial gene mutation in colorectal ca

Answer 13

APC (chr 5)

Question 14

mutation in lynch syndrome? FAP?

Answer 14

lynch = mismatch repair (MLH1, MSH2, MMR), FAP = mutation in APC (chr 5)