Brainscape's Knowledge GenomeTM

Browse over 1 million classes created by top students, professors, publishers, and experts.


See full index

MSKII Exam I + Gene decks > 26 genes > Flashcards

26 genes Flashcards

1
Q

↓ EXT1, EXT2

A
  • Osteochondroma (exostosis)

- Multiple Hereditary Exostosis Syndrome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

LOF chr 1q42 (fumarate hydratase - Krebs cycle enzyme).

A

leiomyoma

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

t(12;16)

A

myxoid liposarcoma

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

inacticating OPG mutations

A

Pagets dis (osteitis deformans)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

mutations of COL1A1 and COL1A2 mutations (Α1 and α2 chains of type I collagen)

A

osteogenesis imperfecta

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

CDK4

A

osteosarcoma

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

MDM2

A

osteosarcoma

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

HOXD13

A

brachydactly D and E

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

TP53

A

osteosarcoma

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

USP6 overexpression

A

Aneurysmal Bone Cyst (ABC)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

SQSTM1

A

familial Pagets dis (osteitis deformans)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

CA2

A

osteopetrosis

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

↓ or abnormal synthesis of glycosaminoglycans

A

Osteochondroma (exostosis)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

GoF FGFR3, from paternal

A
  • achondroplasia

- Thanatophoric dysplasia (but diff)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

HER2

A

osteosarcoma

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

IDH-1 and IDH-2 - mosaics

17
Q

t(x;18) → SS18 - SSX1/SSX2/SSX4

A

synovial sarcoma

18
Q

INK4a

A

osteosarcoma

19
Q

LoF RUNX2

A

cleidocranial dysplasia

20
Q

APC or β-catenin mutations = ↑ Wnt signaling.

A 
Deep Fibromatosis (desmoid tumors)
--> if APC, then worry about Gardners synd
21
Q

GNAS1

A

polystotic Fibrous Dysplasia (Mccune albright synd)

22
Q

CLCN7

A

osteopetrosis

23
Q

RB

A

osteosarcoma

24
Q

MDM2

A

well-diff liposarcoma

25
Q

CDKN2A, IDH1/2 mutations

A

sporadic chondrosarcoma

26
Q

t(2;13) or t(1;13)

A

Alveolar Rhabdomyosarcoma

27
Q

FOXO1 fusion to PAX3 or PAX7

A

Alveolar Rhabdomyosarcoma

28
Q

activating RANK mutations

A

Pagets dis (osteitis deformans)

29
Q

EXT, IDH1/2 mutations

A

syndromic chondrosarcoma

MSKII Exam I + Gene decks (16 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2025 Bold Learning Solutions. Terms and Conditions