Mutations

Question 1

Wat zijn de genen geassocieerd met CCM?

Answer 1

KRIT1, CCM2 en PDCD10

CCM staat voor cerebrovasculaire malformaties.

Question 2

Welk gen is geassocieerd met spina bifida?

Answer 2

MTFHKR

Spina bifida is een aangeboren afwijking van het ruggenmerg.

Question 3

Wat is het gen dat betrokken is bij X-gebonden HCP?

Answer 3

L1CAM

HCP staat voor hydrocephalus.

Question 4

Welk gen is betrokken bij het Dravet syndroom?

Answer 4

SCN1A

Dravet syndroom is een type epilepsie.

Question 5

Noem de genen die geassocieerd zijn met Charcot-Marie-Tooth.

Answer 5

CMT1, CMT2 en CMTX

Charcot-Marie-Tooth is een erfelijke zenuwaandoening.

Question 6

Wat zijn de genen die betrokken zijn bij Schwannomatosis?

Answer 6

SMARCB1 en LZTR1

Schwannomatosis is een zeldzame aandoening gekenmerkt door tumoren.

Question 7

Welke genen zijn betrokken bij het tubereuze sclerose complex syndroom?

Answer 7

TSC 1 en 2

Dit syndroom kan leiden tot goedaardige tumoren.

Question 8

Wat is het gen geassocieerd met het Strug-Weber syndroom?

Answer 8

GNAQ gen

Mosaïcisme is ook een kenmerk van dit syndroom.

Question 9

Noem de genen betrokken bij het constitutioneel mismatch repair deficiency syndrome.

Answer 9

FAP1 (APC) en BTP2

Dit syndroom is geassocieerd met een verhoogd risico op kanker.

Question 10

Welk gen is betrokken bij Li Fraumeni syndroom?

Answer 10

TP53

Li Fraumeni syndroom verhoogt het risico op verschillende soorten kanker.

Question 11

Wat zijn de genen die betrokken zijn bij pediatrische laaggradige tumoren?

Answer 11

FGFR, BRAF en MYB, MYBL1

Laaggradige tumoren hebben meestal een betere prognose.

Question 12

Noem de genen geassocieerd met pediatrische hooggradige tumoren.

Answer 12

H3.3 K27, H3.1/2 K27, IDH/H3 wildtype, EGFR, EZHIP, MGMT

Hooggradige tumoren hebben vaak een slechtere prognose.

Question 13

Welk gen is betrokken bij craniofaryngeoom?

Answer 13

CTNNB1 – papilomatues BRAF V300

Craniofaryngeoom is een tumor die zich in de hersenen bevindt.

Question 14

Wat zijn de genen geassocieerd met familiaire intracraniële aneurysmata syndroom?

Answer 14

CDKN2B, SOX17 en EDNRA

Dit syndroom kan leiden tot levensbedreigende aneurysmata.

Question 15

What is the primary role of genetic mutations in neurosurgical diseases?

Answer 15

Genetic mutations can contribute to the development and progression of neurosurgical diseases.

Question 16

True or False: All neurosurgical diseases are caused by genetic mutations.

Answer 16

False

Question 17

Fill in the blank: Mutations in the _____ gene are associated with gliomas.

Answer 17

IDH1

Question 18

What type of genetic mutation is commonly found in meningiomas?

Answer 18

Chromosomal alterations

Question 19

Which gene is often mutated in acoustic neuromas?

Answer 19

NF2

Question 20

Multiple choice: Which of the following mutations is NOT typically associated with brain tumors? A) TP53 B) EGFR C) BRCA1 D) PTEN

Answer 20

C) BRCA1

Question 21

What is the function of the TP53 gene?

Answer 21

It encodes a protein that regulates the cell cycle and prevents tumor formation.

Question 22

True or False: Genetic testing is not useful for predicting outcomes in neurosurgical diseases.

Answer 22

False

Question 23

Which condition is associated with mutations in the TSC1 or TSC2 genes?

Answer 23

Tuberous sclerosis complex

Question 24

Fill in the blank: The _____ pathway is frequently altered in glioblastomas.

Answer 24

PI3K/AKT

Question 25

Short answer: Name one common genetic alteration in low-grade gliomas.

Answer 25

1p/19q co-deletion

Question 26

Multiple choice: Which of the following is a hallmark of neurofibromatosis type 1? A) Meningiomas B) Schwannomas C) Glioblastomas D) Oligodendrogliomas

Answer 26

B) Schwannomas

Question 27

True or False: BRCA mutations are primarily associated with breast cancer and have no link to neurosurgical diseases.

Answer 27

False

Question 28

Fill in the blank: The _____ gene is involved in familial cases of medulloblastoma.

Answer 28

SHH

Question 29

What is the significance of methylation status in gliomas?

Answer 29

Methylation status can influence tumor behavior and treatment response.

Question 30

Short answer: What is the most common genetic alteration found in oligodendrogliomas?

Answer 30

1p/19q co-deletion

Question 31

What role do epigenetic modifications play in neurosurgical diseases?

Answer 31

They can affect gene expression without altering the DNA sequence.

Question 32

True or False: All mutations lead to increased cancer risk.

Answer 32

False

Question 33

Fill in the blank: The _____ gene is often mutated in pediatric high-grade gliomas.

Answer 33

H3F3A

Question 34

What is the relationship between genetic mutations and treatment resistance in glioblastoma?

Answer 34

Certain mutations can lead to mechanisms that confer resistance to therapies.

Question 35

Short answer: Name a common mutation associated with pituitary adenomas.

Answer 35

GNAS

Question 36

Multiple choice: Which of the following is NOT a common mutation in brain tumors? A) BRAF B) KRAS C) MYC D) APC

Answer 36

D) APC

Question 37

What is the impact of genetic counseling for patients with hereditary neurosurgical conditions?

Answer 37

It helps patients understand their risks and make informed decisions.