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Flashcards in genes Deck (23)
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1

Type VII collagen mutation (COL7A1).

Epidermolysis Bullosa: dystrophic type

2

TP53

SCC

3

Loss of CDKN2A (encodes p16/INK4a) which leads to CDK4 activation

-dysplastic nevi
-melanoma

4

HLA-C

psoriaisis

5

CYLD

cylindroma

6

TERT

-dysplastic nevi
-melanoma

7

CDKN2A --> affecting p14/ARF

-melanoma

8

CTNNB1

Pilomatrixomas

9

notch signaling

SCC

10

Mutation of keratin 5 or 14

Epidermolysis Bullosa: simplex type

11

mutation at laminin subunit

Epidermolysis Bullosa: junctional type

12

p16/INK4a accumulation

arrests grth so melanocytic nevus not turn into melanoma

13

t(17;22) = COL1A1 (collagen 1A1) and PDGFB (platelet derived GFβ).

Dermatofibrosarcoma Protuberans

14

CDKN2A --> affecting p15/INK4b

-melanoma

15

FGFR3

seborrheic keratosis

16

NF1

-melanoma

17

uncontrolled hedgehog signaling

BCC

18

TLR2

roseaca

19

P13K/AKT

-melanoma

20

activating mutations of Ras signaling: BRAF or NRAS

-melanocytic nevus
-dysplastic nevi
-melanoma
-SCC (just RAS)

21

IGFR1

acanthosis nigricans

22

KIT

systemic mastocytosis

23

PTCH LoF

-BCC
-Nevoid Basal Cell Carcinoma (NBCC) AKA: basal cell nevus, Gorlin syndrome.