genetics

Question 1

p16 (encoded by CDKN2A)

Answer 1

HPV assoc squamous cell carcinoma

Question 2

TP53, P63 (NOTCH1)

Answer 2

classic (tobacco) assoc squamous cell carcinoma

Question 3

E6 and E7

Answer 3

HPV assoc squamous cell carcinoma

–> inactivatio p53 and RB

Question 4

PLAG1 overexpression

Answer 4

pleomorphic adenoma

Question 5

MECT1-MAML2 fusion gene, balanced (11;19) (q21;p13) translocation

Answer 5

mucoepidermoid carcinoma

Question 6

RET

Answer 6

Hirschprung’s Dis

Question 7

TP53, CDKN2A (p16/INK4a) downreg

Answer 7

Early mutations: of esophageal adenocarcinoma

Question 8

EGFR, ERBB2, MET, cyclin D1, cyclin E

Answer 8

Late mutations: of esophageal adenocarcinoma

Question 9

• SOX2 (tf) amplification.
• Cyclin D1 overexpression.
• TP53, E-cadherin, NOTCH1 loss of function.

Answer 9

esoph scc

Question 10

• (TS) CDH1 (encodes E-cadherin mutation)

- also Mutation in BRACA, TP53

Answer 10

diffuse type of gastric adenocarcinoma

Question 11

APC
-also TGFβRII, BAX, CDKN2A: loss of function.
-β-catenin: gain of function (Increased Wnt signaling)
TP53 mutation

Answer 11

intestinal type of gastric adenocarcinoma

Question 12

t(11;18)(q21;q21): most common translocation.

-API2-MLT fusion protein

Answer 12

MALToma

Question 13

KIT

Answer 13

GI stromal tumor

Question 14

PDGFRA

Answer 14

GI stromal tumor

Question 15

deltaF508

Answer 15

cystic fibrosis

Question 16

Class II HLADQ2, HLADQ8

Answer 16

celiac dis

Question 17

MTP

Answer 17

Abetalipoprotenemia

Question 18

HLA-B27

Answer 18

reactive arthritis assoc w campylobacter enterocolitis

Question 19

NOD2 polymorphism

Answer 19

chron’s dis

-NFkBactivation affected

Question 20

ATG12L1 & IRGM

Answer 20

chron’s dis

-part of autophagy pathways

Question 21

HNFA

Answer 21

ulcerative colitis

-buut ECM1 inhibits MMP9 to recuce the severity of the dis

Question 22

SMAD4 –> affecting TGFB signaling

Answer 22

juvenille polyps (AD)
-late colonic adenocarcinoma dev (also SMAD2)

Question 23

STK11 (TS) LOF mutation

Answer 23

Peutz-jeghers syndrome (AD)

Question 24

APC (WNT) mutation

-or MYH biallelic mutation

Answer 24

Familial adenomatous polyposis (AD)

-hepatoblastoma

Question 25

MSH2/MLH1

Answer 25

Hereditary Nonpolyposis Colorectal CAncer (lynch synd)

Question 26

APC

–> KRAS (12p12) –>SMAD2/4 and TP53 (17p13)

Answer 26

colonic adenocarcinoma

Question 27

MSI-H

–> MLH1 and BRAF

Answer 27

colonic adenocarcinoma

-microsatellite instability

Question 28

fusion gene EWS and WT1: (t(11;22)(p13q12))

Answer 28

peritoneal tumor: desmoplastic round cell tumor

Question 29

ANA, SMA Abs

Answer 29

Type 1 AI hepatitis

Question 30

LKM1, ACL1 Abs

Answer 30

Type 2 AI hepaitis

Question 31

ALDH*2

Answer 31

EtOH intolerance (asians)

Question 32

HFE (C282Y>H63D)
TFR2
HJV and HAMP

Answer 32

hemachromatosis:
HFE for adults
HJV and HAMP cause juvenile form

Question 33

ATP7B

Answer 33

wilsons dis

Question 34

PiZZ

Answer 34

α1-antitrypsin deficiency

Question 35

B-catenin activation

Answer 35

hepatocellular carcinoma (hepatoma) (not in precursor lesion tho)

Question 36

PDX1

Answer 36

partial pancreatic agenesis

Question 37

PRSS1

Answer 37

acute pancreatitis (AD)
-GOF (autosom. Dom) making trypsin resistant to self inactivation or prone to activation

Question 38

SPINK1

Answer 38

acute pancreatitis (AR)
-LOF (aut. Rec.) – transc a trypsin inhibitor soo = Prevents inhibition of trypsin

Question 39

CTFR

Answer 39

acute and chronic pancreatitis

-Decreased bicarbonate secretion protein plugging, duct obst and pancreatitis

Question 40

KRAS (chr 12)

–> CDKN2A (chr 9) –> SMAD4 (chr 18q)

Answer 40

*CDKN2A (chr 9) seen esp in fams w melanoma