Mutaciones

Question 1

Tp53

Answer 1

CA epidermoide pulmón
CA Cels Peq Pulmon
CA epidermoide oral
Adenocarcinoma esófago
CA de cuello uterino
CA endometrio tipo II
Osteosarcoma
CA epidermoide piel

Secund
CA mama
CA anaplásico tiroides
Adenoma hipofisario
Tumor ovario
endometrioide
Tumor seroso de ovario
Carcinoma de páncreas
Adenocarcinoma de colon
AdenoCA gástrico
intestinal

Question 2

Fibrilina 1 (cr 15)

Answer 2

Sme de Marfan

Question 3

Neurofibromina (cr 17)

Answer 3

Neurofibromatosis tipo 1

Question 4

Merlina (cr 22)

Answer 4

Neurofibromatosis tipo 2

Question 5

Sub u A hexosaminidasa

Answer 5

Enf de Tay Sachs

Question 6

Enf Niemmann Pick
Enf NP tipo C

Answer 6

Esfingomielinasa (cr 11)
Ezs NPC 1 y NPC 2

Question 7

Glucocerebrosidasa

Answer 7

Enf de Gaucher

Question 8

Oxidasa del ácido
homogentísico

Answer 8

Alcaptonuria

Question 9

Cr 15 (materno/paterno)

Answer 9

Sme Angelman,Prader Willi

Question 10

Cr 21/Cr 18/ Cr13

Answer 10

Down, Edwards, Patau

Question 11

Gen ATP7B

Answer 11

Enf de Wilson

Question 12

KRAS

Answer 12

Adenocarcinoma pulmón
Tumor mucinoso ovario
CA Pancreas

Secund
CA endometrio tipo I
Tumor seroso de ovario
Tumor ovario endometrioid

Question 13

CDKN2A

Answer 13

Mesotelioma Pleural

Question 14

RET

Answer 14

Enf de Hirschprung
Neoplasia Endocrina Multiple 2

Question 15

SOX2

Answer 15

CA epidermoide esófago

Question 16

Cadherina E, inestabilidad microsatélites

Answer 16

AdenoCA gástrico intestinal

Question 17

CDH1

Answer 17

adenoCA gástrico difuso

Question 18

c-KIT, RAS

Answer 18

GIST

Question 19

FOX

Answer 19

Tumor céls de la granulosa
Enteropatía autoinmune

Question 20

NOD2

Answer 20

EII

Question 21

Pólipo juvenil

Answer 21

SMAD4

Question 22

STK111

Answer 22

Polipo Peutz Jegers

Question 23

APC

Answer 23

PAF
Adenocarcinoma de colon (Kras yTp53)

Question 24

MSH2, MLH1

Answer 24

Sme de Lynch

Question 25

c-MYC

Answer 25

Linfoma de Burkitt

Question 26

Ciclina D1

Answer 26

Linfoma de céls del manto

Question 27

ALK

Answer 27

Linf anaplásico cls grandes

Question 28

T(8;21), T(15;17), inv(16)

Answer 28

LMA

Question 29

Cromosoma Philadelphia

Answer 29

LMC

Question 30

JAK-2

Answer 30

Policitemia vera

Question 31

gen PIGA

Answer 31

Hemoglobinuria
paroxística nocturna

Question 32

BCRA

Answer 32

Adenocarcinoma próstata (2 - TMPRSS2)

Question 33

B catenina

Answer 33

Hepatoblastoma

Question 34

PTEN

Answer 34

CA endometrio tipo I
Tumor ovario endometrioide

Question 35

MED12

Answer 35

Leiomiosarcoma útero