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Final > Mutaciones > Flashcards

Mutaciones Flashcards

1
Q

Tp53

A

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

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2
Q

Fibrilina 1 (cr 15)

A

Sme de Marfan

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3
Q

Neurofibromina (cr 17)

A

Neurofibromatosis tipo 1

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4
Q

Merlina (cr 22)

A

Neurofibromatosis tipo 2

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5
Q

Sub u A hexosaminidasa

A

Enf de Tay Sachs

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6
Q

Enf Niemmann Pick
Enf NP tipo C

A

Esfingomielinasa (cr 11)
Ezs NPC 1 y NPC 2

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7
Q

Glucocerebrosidasa

A

Enf de Gaucher

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8
Q

Oxidasa del ácido
homogentísico

A

Alcaptonuria

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9
Q

Cr 15 (materno/paterno)

A

Sme Angelman,Prader Willi

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10
Q

Cr 21/Cr 18/ Cr13

A

Down, Edwards, Patau

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11
Q

Gen ATP7B

A

Enf de Wilson

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12
Q

KRAS

A

Adenocarcinoma pulmón
Tumor mucinoso ovario
CA Pancreas

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

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13
Q

CDKN2A

A

Mesotelioma Pleural

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14
Q

RET

A

Enf de Hirschprung
Neoplasia Endocrina Multiple 2

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15
Q

SOX2

A

CA epidermoide esófago

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16
Q

Cadherina E, inestabilidad microsatélites

A

AdenoCA gástrico intestinal

17
Q

CDH1

A

adenoCA gástrico difuso

18
Q

c-KIT, RAS

A

GIST

19
Q

FOX

A

Tumor céls de la granulosa
Enteropatía autoinmune

20
Q

NOD2

A

EII

21
Q

Pólipo juvenil

A

SMAD4

22
Q

STK111

A

Polipo Peutz Jegers

23
Q

APC

A

PAF
Adenocarcinoma de colon (Kras yTp53)

24
Q

MSH2, MLH1

A

Sme de Lynch

25
Q

c-MYC

A

Linfoma de Burkitt

26
Q

Ciclina D1

A

Linfoma de céls del manto

27
Q

ALK

A

Linf anaplásico cls grandes

28
Q

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

A

LMA

29
Q

Cromosoma Philadelphia

A

LMC

30
Q

JAK-2

A

Policitemia vera

31
Q

gen PIGA

A

Hemoglobinuria
paroxística nocturna

32
Q

BCRA

A

Adenocarcinoma próstata (2 - TMPRSS2)

33
Q

B catenina

A

Hepatoblastoma

34
Q

PTEN

A

CA endometrio tipo I
Tumor ovario endometrioide

35
Q

MED12

A

Leiomiosarcoma útero

36
Q
A

Final (8 decks)

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