Cancer is a Genetic Disease

Question 1

When do somatic mutations occur

Answer 1

after conception

Question 2

Somatic mutations can occur anywhere but?

Answer 2

germ cells

Question 3

Where are germline mutations present?

Answer 3

in every cell of the body

Question 4

Causes of mutations in cancer

Answer 4

normal cell division/DNA replication
exposure to carcinogens
increasing genomic instability
somatic recombination
epigenetic gene silencing
inception of retroviral oncogenes

Question 5

Passenger mutations

Answer 5

most mutations are not recurrent among similar types of cancer and likely arose as the cancer developed

Question 6

driver mutations

Answer 6

other mutation are commonly found in different types of cancer and likely drove progression of the tumor

Question 7

Two broad classes of Driver mutations

Answer 7

oncogenes & tumor supressor genes

Question 8

What is an oncogene?

Answer 8

control the normal growth and survival of cells
(cell cycle regulation, cellular signal pathways (most common), DNA repair)

Question 9

What do mutations in proto-oncogenes cause

Answer 9

excessive levels of activity

Question 10

What is a proto-oncogene

Answer 10

normal version of oncogene

Question 11

How many mutations are needed for activation of proton-oncogene

Answer 11

single mutation on one allele

Question 12

How many proto-oncogenes have been identified in humans

Answer 12

50

Question 13

Growth factor oncogene

Answer 13

INT-1, SIS

Question 14

Growth Factor receptor oncogene

Answer 14

HER2/NEU, RET, MET, & ERBB-1

Question 15

Nonreceptor tyrosine kinases oncogenes

Answer 15

SRC & ABL

Question 16

Signal Transducer Oncogenes

Answer 16

RAS

Question 17

Cell cycle regulators oncogenes

Answer 17

CDK2 & CDKN1A

Question 18

Nuclear transcription factor oncogenes

Answer 18

N-MYC, JUN, FOS

Question 19

Signal transduction pathways transmit extracellular and intracellular signals to regulate cell functions such as:

Answer 19

growth, apoptosis, proliferation, cell-cell adhesion, senescence

Question 20

MAPK Pathway

Answer 20

Mitogen-activated protein kinase
regulates cell growth, proliferation, differentiation, and death

Question 21

What do tumor suppressor gene do?

Answer 21

most negatively regulate cell growth or maintain genome integrity

Question 22

Driver mutations in tumor suppressor genes are __ of function

Answer 22

loss of function

Question 23

Typically require inactivating mutations at both alleles

Answer 23

tumor supressor genes

Question 24

Many inherited conditions are due to inherited mutations in

Answer 24

tumor supressor genes

Question 25

Two-Hit Hypothesis

Answer 25

Tumor suppressor genes require a mutation in each allele to lead to cancer

Question 26

What is TP53

Answer 26

“Guardian of the genome”
involved in cell cycle control, apoptosis initiation, and maintenance of genome intergrity
monitors accumulation of DNA damage and mediates G1 cell cycle arrest to initiate repair
induces apoptosis if DNA is too damaged

Question 27

Inherited mutations in TP53 cause

Answer 27

Li-Fraumeni syndrome

Question 28

Loss of Heterozygosity (LOH)

Answer 28

results in loss of one parental allele, resulting in only a single allele being expressed for a given gene

Question 29

In cancer cell, __ is commonly observed as the inactivating mutation for tumor suppressor genes

Answer 29

Loss of heterozygosity

Question 30

Genes associated to DNA repair pathways

Answer 30

MYH, XP, NBS, BLM, BRCA1/2, MSH, MLH

Question 31

Chronic Myelogenous Leukemia (CML)

Answer 31

clonal expansion of transformed hematopoietic progenitor cells, increases circulating myeloid cells
symptoms include fatigue, malaise, weight loss and enlarged spleen
mutations are somatic
15% of all adult leukemia