Mutations

Question 1

What is the mutation associated with Achondroplasia?

Answer 1

FGFR3 activation

Question 2

What is the mutation associated with Seborrheic keratosis?

Answer 2

FGFR3 activation

Question 3

What is the mutation associated with Chondrosarcoma?

Answer 3

IDH point mutation

Question 4

What is the mutation associated with Fibrous dysplasia?

Answer 4

GNAS1

Question 5

What is the mutation associated with Gardner’s syndrome?

Answer 5

APC

Question 6

What is the mutation associated with Osteosarcoma?

Answer 6

RB & P53 (Li-frumeni)

Question 7

What is the mutation associated with SCC?

Answer 7

P53, HRAS & NotchR

Question 8

What is the mutation associated with Nevuses?

Answer 8

BRAF/NRAS

Question 9

What is the mutation associated with Melanoma?

Answer 9

P16, PTEN & C-Kit

Question 10

What is the mutation associated with Osteochondroma?

Answer 10

EXT1/2

Question 11

What is the mutation associated with Liposarcoma grade 1?

Answer 11

MDM2 (Amp. 12q)

Question 12

What is the mutation associated with DMD?

Answer 12

Xp21 deletion

Question 13

What is the mutation associated with Ewing’s sarcoma?

Answer 13

EWS (11;22)

Question 14

What is the mutation associated with high grade Liposarcoma ?

Answer 14

FUS-DDIT3 (12;16)

Question 15

What is the mutation associated with Nodular fascitis?

Answer 15

MYH9-USP6 (17;22)

Question 16

What is the mutation associated with Alveolar rhabdomyosarcoma?

Answer 16

PAX3-FKHR (2;13)

Question 17

What is the mutation associated with Synovial sarcoma?

Answer 17

SS18-SSX (X;18)