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Flashcards in gene mutations Deck (16)
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1

PLAG1

pleiomorphic adenoma

2

PTCH on 9q22

odontogenic keratocyst

3

MECT1 + MAML2

mucoepidermoid carcinoma

4

RET mutation

Hirschsprung dz

5

esophagus
Tp53, CDKN2A --> cyclin D1, E, EGFR. ERBB2, MET

adenocarcinoma of the esophagus

6

esophagus
SOX2 amplification
Cyclin D1, TP53, E-cadherin

SCC of esophagus

7

MEN-1 mutation
stomach

Zolinger Elison syndrome

8

FAP in the stomach

fundic gland polyps
gastric adenomas
gastric adenocarcinoma (familial type)
increased risk with PPIs

9

B-catenin, TGF-Beta, BAX CDKN2

sporadic gastric adenocarcinoma

10

CDH1 in the stomach

familial gastric adenocarcinoma

11

AP12-MLT translocation
increased expression of MALT1 & BCL-10

MALToma of the stomach

12

gain of function in KIT .

GI stromal tumor

13

HLA-DQ8, HLA-DQ2

celiac dz

14

EATL

celiac disease complication-- t cell lymphoma

15

FOXP3

x linked IPEX - autoimmune enteropathy

16

MTP

abetaproteinemia