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Unit 7: MCP > Cancer Genetics (15 & 16) > Flashcards

Cancer Genetics (15 & 16) Flashcards

1
Q

How do tumors start?

A

As a single cell with a mutation which proliferates to form a group of similarly abnormal cells (tumors are clonal)

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2
Q

What is malignancy?

A

Uncontrolled cell growth characterized by a change in the normal organizational pattern of tissues or cells

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3
Q

What are the different types of cancer?

A

Sarcoma

Cardinoma

Hematopoietic/ lymphoid

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4
Q

What types of cancers are sarcomas?

A

Affect mesenchymal tissues (bone, cartilage, muscle, fat)

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5
Q

What types of cancers are carcinomas?

A

Affect epitheloid tissues

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6
Q

What types of cancers are hematopoietic/ lymphoid?

A

Leukemias (WBC from bone marrow)

Lymphomas (WBC from spleen and lymph tissues)

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7
Q

Name some environmental mutagens?

A

UV light, asbestos, cigarette smoke, plastics, dyes

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8
Q

Name 4 hallmarks of cancer?

A

1- Mutation or loss of genes involved in cell control including growth/ division, proliferation, metabolism

2- Environmental elements may influence mutation

3- mutations may be inherited or acquired

4- chromosome instability

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9
Q

What are the two types of genes associated with cancer?

A

1- Proto-oncogenes/ Oncogenes

2- Tumor suppressors

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10
Q

What are oncogenes involved in?

A

Upregulating cell growth and proliferation. They are carried by viruses and are associated with disease in animals

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11
Q

Name 5 viral oncogenes in humans and their associated cancers:

A

HPV- cervical cancer

EBV- nasopharyngeal cancer, hodgkin lymphoma

HHV-8- Kaposi sarcoma

HTLV-1- T cell leukemia

HTLV-2- Various leukemias

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12
Q

Generally, what is the function of proto-oncogenes?

A

Structurally important “housekeeping” genes involved in cell proliferation and development (growth factors, cell surface receptors, intracellular signal transduction, DNA binding proteins, regulation of cell cycle)

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13
Q

How many mutations are needed for proto-oncogene to promote tumorigenesis?

A

only one….it is a dominant mutation

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14
Q

What are the chromosomal findings in CML?

A

Translocation between chromosome 9 and 22.

There is a juxtaposition of 2 genes that generates a chimeric protein produced with a new function associated with disease

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15
Q

What is the treatment for CML?

A

bcr/ abl specific tyrosine kinase inhibitor. It is specific to rearranged chimeric protein

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16
Q

What are the chromosomal findings in APL?

A

15; 17 translocation breaking the PML gene on chromosome 15 and the RARA gene on chromosome 17

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17
Q

What is required for a positive diagnosis of APL?

A

t(15;17) is clinically diagnostic…seen by FISH

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18
Q

What is the function of tumor suppressor genes?

A

Genetic element whose loss or inactivation allows the cell to display an alternate phenotype leading to neoplastic growth

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19
Q

How many alleles need to be mutated for tumor suppressor genes to promote tumorigenesis?

A

2…it is a recessive condition

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20
Q

What are the two general classes of tumor suppressor genes?

A

1- Gate keepers (suppress tumors by regulating cell cycle or growth inhibition)

2- Caretakers (repair DNA damage and maintain genomic integrity)

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21
Q

What toes of tumors are mutated tumor suppressors associated with?

A

Solid tumors

22
Q

What is an example of a gatekeeper mutation?

A

Rb1…which functions in regulation of cell cycle (controls the progression from G1 to S)

23
Q

What chromosome is Rb found on? What is the most common mutation?

A

Chromosome 13…a deletion is the most common mutation

24
Q

When is retinoblastoma onset limited to?

A

Birth to 5 years

25
Q

Is sporadic or inherited retinoblastoma associated with bilateral retinoblastoma?

A

Inherited

26
Q

What secondary cancer is associated with retinoblastoma?

A

Patients who express retinoblastoma are at risk for a second cancer in their teens…osteosarcoma

27
Q

If an individual has sporadic retinoblastoma….where did the mutations arise from?

A

Both mutations are in somatic cells

28
Q

If an individual has inderited retinoblastoma…where did the mutations arise from?

A

One was inherited and the other arose spontaneously in somatic cells

29
Q

What is Knudson’s hypothesis?

A

There is 2 mutations per cell and that sporadic is usually unilateral and inherited is usually bilateral.

Also…inheritance sees dominant but it is deceptive and is actually recessive

30
Q

Name 6 familial cancers:

A

Breast ovarian cancer

Familial polysosis coli

Retinoblastoma

von Recklinhausen neurofibromatosis

Wilm’s tumor

von Hippel Lindau/ Renal cell cancer

31
Q

What is Li Fraumeni familial cancer syndrome?

A

Inherited mutation of p53

50% risk at age 30 and 90% risk at age 70 to develop some type of neoplasm

32
Q

Where are BRCA1 and BRCA2 found?

A

BRCA- chromosome 17 (near NF1 and 53)

BRCA- chromosome 13 (near Rb1)

33
Q

Why is mortality in males so high for familial breast cancer?

A

Because they dont seek help early enough

34
Q

BRCA genes account for what percentage of breast cancer and what percentage of familial breast cancer?

A

Total= 5-10%

Familial= 80-90%

35
Q

What is a caretaker mutation?

A

Inability to repair DNA defects/ mutations that results in an accumulation of abnormal DNA/ genes, increase in genome instability and may lead to mutations of proto-oncogene or tumor suppressor genes

36
Q

Name some inherited or acquired caretaker mutations?

A

Fanconi anemia

Ataxia telangiectasia

Breast Cancer

HNPCC

Bladder cancer

37
Q

What are some breakage syndrome?

A

Fanconi anemia

Bloom syndrome

Ataxia telangiectasia

Xeroderma pigmentosum

Cockayne syndrome

38
Q

What type of inheritance do breakage syndromes have?

A

recessive inheritance

39
Q

What are three aspects associated with chromosome instability?

A

Sister chromatid exchange

Triradials

Excessive breakage

40
Q

Which sex has a higher risk of developing colon cancer with inheritance of a mutation?

A

males

41
Q

Why can microsatellites be used to study mismatch repair mutations?

A

microsatellites are prone to slippage, and if a change in these patterns occurs - it can be detected

42
Q

How is HNPCC diagnosed via microsatellite analyzation?

A

presence of extra bands confirms the diagnosis

43
Q

True or false: multiple mutations needs to occur in a single cell for cancer to occur

A

true - or the clone of that cell

44
Q

Does the mutations that occur that result in familial polyposis coli include tumor suppressors or proto-onco genes?

A

both!

45
Q

In order for karyotyping to be successful in monitoring a disease, what is the requirement?

A

a baseline for comparison

46
Q

What are the three chromosomal rearrangements associated with these forms of leukemia:

  1. AML-M2
  2. AML-M4
  3. ALL
A
  1. AML-M2 - Translocation
  2. AML-M4 - inversion
  3. ALL - translocation
47
Q

What disease does patients with down syndrome have an increased risk for?

A

leukemia

48
Q

Does loss of heterozygosity of a chromosome mean there is only one chromosome present?

A

nope

-duplication can occur of remaining chromosome

49
Q

What is a drawback of FISH in monitoring a patient’s disease?

A

only abnormalities specifically being tested will be assessed

50
Q

When is FISH exceptionally helpful in monitoring transplant patients?

A

when the recipient and donor are of different sex

  • want recipient cell line to eventually dissapear
  • want donor cell line to eventually take over
51
Q

What percent chance does a carrier have of passing on a mutant allele?

A

50%

52
Q

T/F: Risk does not depend on number and degree of affected relatives

A

falseeee - strong correlation

Unit 7: MCP (16 decks)

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