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Biology Of Cancer > Lecture 8 > Flashcards

Lecture 8 Flashcards

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AP® Biology flashcards Biology 101 flashcards
0
Q

What are spontaneous mutations?

A

Mutations from naturally occurring errors in DNA replication

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1
Q

What are the two types of mutations?

A

Spontaneous and induced

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2
Q

What are induced mutations?

A

Mutations caused by exposure to mutagens

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3
Q

What is a de novo germline mutation?

A

A new mutation that occurs (spontaneously or induced) in the egg or sperm in an individual who didn’t inherit that mutation

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4
Q

What is copy number variation (CNV)?

A

Insertion/deletion of chromosome fragments

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5
Q

What does copy number variation result in?

A

A different number of copies of a particular gene between individuals

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6
Q

CNV amplification of what gene causes increased breast cancer progression?

A

HER2

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7
Q

HER2 overexpression is found in what percent of breast cancer patients?

A

Over 30%

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8
Q

Splice-site mutations can cause _____

A

Deletion of exons or inclusion of introns

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9
Q

Neurofibromatosis type 1 is cause by what mutation?

A

Splice site mutation that mutates the neural tumor suppressor gene NF1

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10
Q

What type of gene is NF1?

A

Autosomal dominant, completely penetrant

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11
Q

What does neurofibromatosis type 1 cause?

A

Neurofibromas – tumors of the nervous system

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12
Q

What splice site exon deletion may cause breast cancer?

A

Exon deletion in gene for the androgen receptor (AR)

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13
Q

What are the two types of point mutations?

A

Transition and transversion

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14
Q

What is a transition mutation?

A

When a pyrimidine is changed to a different pyrimidine, or a purine is changed to a different purine

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15
Q

What is a transversion mutation?

A

When a purine is changed to a pyrimidine, or a pyrimidine is changed to a purine

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16
Q

Where can sporadic cancer mutations be detected by genomic DNA analysis?

A

ONLY in tumor cells, not in the other cells of the body

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17
Q

Is sporadic cancer somatic or germline?

A

Somatic

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18
Q

What causes familial cancer?

A

Mixture of environmental factors and genetics

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19
Q

The majority of inheritable cancers exhibit what mode of inheritance?

A

Autosomal dominant

20
Q

How many copies of a mutated allele are required for the expression of an autosomal dominant trait?

A

Only one copy of the allele

21
Q

Li-Fraumeni Syndrome is an example of what kind of inheritable cancer?

A

Autosomal dominant

22
Q

What gene is mutated in Li-Fraumni Syndrome?

A

p53

23
Q

What does Li-Fraumeni Syndrome cause?

A

Increased incidence of a broad spectrum of cancers

24
Q

p53 Gain of Function mutations causes what?

A

Abnormal aggregation of the protein, which disrupts protein function and leads to autosomal dominant cancer

25
Q

What is Familial Adenomatous Polyposis (FAP)?

A

Autosomal dominant cancer that’s causes mutations of the APC tumor suppressor gene

26
Q

Children with an autosomal recessive condition typically have/don’t have affected parents?

A

Don’t have

27
Q

What form of inheritance skips generations?

A

Autosomal recessive

28
Q

What is ataxia-telangiectasia?

A

Autosomal recessive cancer caused by mutation of the ATM gene

29
Q

What are the symptoms of ataxia-telangiectasia?

A

Poor coordination and movement due to neurodegeneration; permanent dilated capillaries in the skin and eyes

30
Q

What is the ATM gene?

A

Master kinase regulators of checkpoint pathways that recognizes DNA damage

31
Q

What is Bloom Syndrome?

A

Autosomal recessive disease that causes small statue, sun sensitivity, male infertility, and a predisposition to a variety of early onset cancers

32
Q

What gene is mutated in Bloom Syndrome?

A

BLM

33
Q

What does the gene BLM code for?

A

A member of the RecQ family of DNA helicases

34
Q

What are the three types of x-y linked inheritance?

A

X-linked recessive, X-linked dominant, and Y-linked

35
Q

What is Incontinentia Pigmenti?

A

X-linked dominant disorder that predisposes individuals to skin lesions and cancers of the kidney

36
Q

What gene is mutated in Incontentia Pigmenti?

A

NEMO/IKBKG gene

37
Q

What is Dyskeratosis congenita?

A

X-linked recessive disorder that resembles premature aging

38
Q

What genes are mutated in DKC?

A

The telomerase genes DKC1, TERC, TERT, TINF2

39
Q

What is RBMY?

A

RNA-binding motif gene on Y chromosome

40
Q

Where is RBMY activated as an oncogene?

A

Make liver cancers

41
Q

What affects penetrance?

A

Age, modifier genes, environment

42
Q

What is mosaicism?

A

Two of more genetically distinct populations of cells in one individual

43
Q

What is linkage analysis?

A

Attempt to locate disease-causing gene by identifying traits that are co-inherited with it

44
Q

What is the measure of deviation from random association for a pair of alleles?

A

Linkage disequilibrium (LD)

45
Q

High LD is indicative of?

A

No recombination

46
Q

Low LD is indicative of?

A

Recombination

47
Q

What are four options you have if you’re at risk for familial cancer?

A

Prevention, increased surveillance, risk-reducing surgery, medical intervention

Biology Of Cancer (14 decks)

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