genes Flashcards
1
Q
Type VII collagen mutation (COL7A1).
A
Epidermolysis Bullosa: dystrophic type
2
Q
TP53
A
SCC
3
Q
Loss of CDKN2A (encodes p16/INK4a) which leads to CDK4 activation
A
- dysplastic nevi
- melanoma
4
Q
HLA-C
A
psoriaisis
5
Q
CYLD
A
cylindroma
6
Q
TERT
A
- dysplastic nevi
- melanoma
7
Q
CDKN2A –> affecting p14/ARF
A
-melanoma
8
Q
CTNNB1
A
Pilomatrixomas
9
Q
notch signaling
A
SCC
10
Q
Mutation of keratin 5 or 14
A
Epidermolysis Bullosa: simplex type
11
Q
mutation at laminin subunit
A
Epidermolysis Bullosa: junctional type
12
Q
p16/INK4a accumulation
A
arrests grth so melanocytic nevus not turn into melanoma
13
Q
t(17;22) = COL1A1 (collagen 1A1) and PDGFB (platelet derived GFβ).
A
Dermatofibrosarcoma Protuberans
14
Q
CDKN2A –> affecting p15/INK4b
A
-melanoma
15
Q
FGFR3
A
seborrheic keratosis
