Just The Gene-mutations

Question 1

Gastric adenocarcinoma

Answer 1

E-cad CDH1
β catenin
H. Pylori CagA
P53
EBV

Question 2

Gastrointestinal stromal tumor

Answer 2

TRK - GOF
→ Tx with imatinib

Question 3

Fap

Answer 3

APC chr 5q21-22
Autosomal dom

Question 4

Hnpcc

Answer 4

DNA mismatch repair genes
MLH1, MSH2,6, PMS2
Autosomal dom

Question 5

CRC - chromosomal instability

Answer 5

APC → risk
KRAS gof → adenoma
p53, other lof → carcinoma

Question 6

CRC - microsattelite

Answer 6

DNA mismatch repair

Question 7

HCC commonly measured tumor marker

Answer 7

AFP - α-fetoprotein
Not particularly sensitive or specific but can be used to screen, track disease

Question 8

KRAS mx

Answer 8

GTPase
Protooncogene =constituatively active

Question 9

p16

Answer 9

Cr 9p
Pancreatic c, others
Inhibits g1 → s
Via CDK4/6 inhibition
Oncogene: inactivated

Question 10

DCP4/SMAD4

Answer 10

Pancreatic. Others
Inhibits tgf-β`

Question 11

SCC lung

Answer 11

neuroendocrine markers
NCAM (CD56), enolase, chromogranin, synaptophysin

Question 12

NSCLC

Answer 12

some EGFR

Question 13

mucin

Answer 13

various malignancies - breast, NSCLC, pancreatic, etc
indicates poor prognosis

Question 14

vimentin

Answer 14

sarcomas
indicates mesenchymal origin

Question 15

KRAS

Answer 15

colorectal, pancreatic, some lung adenocarcinomas