Cancer Genetics Flashcards

1
Q

Three key checkpoints in cell cycle control

A
  1. G1/S - monitors for proper cell size and undamaged DNA
  2. G2/M - holds up cycle until replication and DNA repair are complete
  3. M Checkpoint - proper spindle formation and attachment
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2
Q

Tumor

A

mass of abnormal cells that don’t have normal controls on cell division

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3
Q

Benign

A

noncancerous abnormal cells remain localized

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4
Q

Malignant

A

cancer cells invade surrounding tissue

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5
Q

Metastatic

A

cancer cells spread and make secondary tumors

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6
Q

Most cancers are sporadic and influenced by the…

A

environment

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7
Q

High incidents of cancer correlate with tissues that…

A

undergo more cell divisions due to errors in replication.

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8
Q

Tumor suppressor genes…

A

prevent “bad” cells from diving uncontrollable

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9
Q

Proto-oncogenes

A

promote cell division, allow “good” cells to divide

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10
Q

Most cancers are not ________ but are based on _______ factors

A

inherited, environmental

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11
Q

What role does loss of function mutations play in the origin of tumors?

A

They cause complete or partial absence of protein function

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12
Q

What role does the gain of function mutations play in the origin of tumors?

A

The cell may produce proteins that are not normally present

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13
Q

Tumor suppressor genes produce factors that _______ cell division

A

inhibit

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14
Q

What is the normal function of BRCA1 gene and which cancer when mutated is it correlated with

A

Function: DNA repair, transcription factor
Cancer: Breast & Ovarian

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15
Q

What is the normal function of p53 gene and which cancer when mutated is it correlated with

A

Function: regulates cell division, apoptosis, DNA repair, and other functions, acts like a “fork in the road”
Cancer: Many types of cancer

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16
Q

What is the normal function of RB gene and which cancer when mutated is it correlated with

A

Function: regulates cell division
Cancer: Retinoblastoma & many others

17
Q

BRCA1, p53, and RB are all examples of what types of genes

A

tumor suppressor genes

18
Q

What is Knudson’s Two Hit Hypothesis

A

says that both chromosomes have to be defective in the same cell to allow tumors to develop

19
Q

Tumor Suppressor Retinoblastoma-RB Gene Mechanism

A

-G1 to S transition
-RB normally prevents E2F from activating replication
-Late in G1, RB releases E2F and Replication can begin

20
Q

Tumor Suppressor p53 Gene Mechanism

A

-Functions at G1 checkpoint
-The fork in the road: if DNA is damaged p53 delays cell division until the damage is repaired or programs cell to die

21
Q

Tumor suppressor mutations are typically _________. Low damage _____ and high damage ________

A

recessive, blocks the cell cycle and causes cell death

22
Q

Mutations in proto-oncogene results in ______ that allows ________.

A

oncogene, uncontrolled cell division

23
Q

Oncogenes are (dominant/recessive) acting mutations

A

dominant

24
Q

What is the normal function of c-myc gene and which cancer when mutated is it correlated with

A

Function: transcription factor
Cancer: Burkitt’s Lymphoma, leukemias, neuroblastoma

25
Q

Burkitt’s Lymphoma

A

-Abnormal function of B cells
-reciprocal translocation between chromosomes 8 and 14 places c-myc next to enhancer
-the enhancer leads to abnormally high function of c-myc gene

26
Q

Retroviruses can cause cancer because they

A

mutate and rearrange proto-oncogenes or insert a strong promoter near proto-oncogenes

27
Q

Progression is

A

the benign adenomas to malignant tumors to metastasis

28
Q

What does defective nucleotide excision repair cause?

A

-Xeroderma pigmentosum
-High risk of skin cancer

29
Q

What does defective mismatch repair cause?

A

-Colorectal, endometrial, and stomach cancers

30
Q

What does defective double-strand break repair cause

A

BRCA1 and BRCA2

31
Q

How do mutations in genes that regulate telomeres contribute to cancer?

A

-Telomeres shorten as the cell ages and ultimately contribute to the death of the cell.
-Tumor cells have telomerase expression which is thought to contribute to the “immortality of cancer cells

32
Q

What is vascularization

A

the process of growing blood vessels into a tissue, important to the progression

33
Q

How do genes affect vascularization & spread of tumors in cancer progression?

A

Growth factors & other proteins involved in angiogenesis are overexpressed in tumor cells.
Preventing angiogenesis prevents tumor growth