Lecture 8

Question 0

What are spontaneous mutations?

Answer 0

Mutations from naturally occurring errors in DNA replication

Question 1

What are the two types of mutations?

Answer 1

Spontaneous and induced

Question 2

What are induced mutations?

Answer 2

Mutations caused by exposure to mutagens

Question 3

What is a de novo germline mutation?

Answer 3

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

Question 4

What is copy number variation (CNV)?

Answer 4

Insertion/deletion of chromosome fragments

Question 5

What does copy number variation result in?

Answer 5

A different number of copies of a particular gene between individuals

Question 6

CNV amplification of what gene causes increased breast cancer progression?

Answer 6

HER2

Question 7

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

Answer 7

Over 30%

Question 8

Splice-site mutations can cause _____

Answer 8

Deletion of exons or inclusion of introns

Question 9

Neurofibromatosis type 1 is cause by what mutation?

Answer 9

Splice site mutation that mutates the neural tumor suppressor gene NF1

Question 10

What type of gene is NF1?

Answer 10

Autosomal dominant, completely penetrant

Question 11

What does neurofibromatosis type 1 cause?

Answer 11

Neurofibromas – tumors of the nervous system

Question 12

What splice site exon deletion may cause breast cancer?

Answer 12

Exon deletion in gene for the androgen receptor (AR)

Question 13

What are the two types of point mutations?

Answer 13

Transition and transversion

Question 14

What is a transition mutation?

Answer 14

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

Question 15

What is a transversion mutation?

Answer 15

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

Question 16

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

Answer 16

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

Question 17

Is sporadic cancer somatic or germline?

Answer 17

Somatic

Question 18

What causes familial cancer?

Answer 18

Mixture of environmental factors and genetics

Question 19

The majority of inheritable cancers exhibit what mode of inheritance?

Answer 19

Autosomal dominant

Question 20

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

Answer 20

Only one copy of the allele

Question 21

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

Answer 21

Autosomal dominant

Question 22

What gene is mutated in Li-Fraumni Syndrome?

Answer 22

p53

Question 23

What does Li-Fraumeni Syndrome cause?

Answer 23

Increased incidence of a broad spectrum of cancers

Question 24

p53 Gain of Function mutations causes what?

Answer 24

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

Question 25

What is Familial Adenomatous Polyposis (FAP)?

Answer 25

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

Question 26

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

Answer 26

Don't have

Question 27

What form of inheritance skips generations?

Answer 27

Autosomal recessive

Question 28

What is ataxia-telangiectasia?

Answer 28

Autosomal recessive cancer caused by mutation of the ATM gene

Question 29

What are the symptoms of ataxia-telangiectasia?

Answer 29

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

Question 30

What is the ATM gene?

Answer 30

Master kinase regulators of checkpoint pathways that recognizes DNA damage

Question 31

What is Bloom Syndrome?

Answer 31

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

Question 32

What gene is mutated in Bloom Syndrome?

Answer 32

BLM

Question 33

What does the gene BLM code for?

Answer 33

A member of the RecQ family of DNA helicases

Question 34

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

Answer 34

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

Question 35

What is Incontinentia Pigmenti?

Answer 35

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

Question 36

What gene is mutated in Incontentia Pigmenti?

Answer 36

NEMO/IKBKG gene

Question 37

What is Dyskeratosis congenita?

Answer 37

X-linked recessive disorder that resembles premature aging

Question 38

What genes are mutated in DKC?

Answer 38

The telomerase genes DKC1, TERC, TERT, TINF2

Question 39

What is RBMY?

Answer 39

RNA-binding motif gene on Y chromosome

Question 40

Where is RBMY activated as an oncogene?

Answer 40

Make liver cancers

Question 41

What affects penetrance?

Answer 41

Age, modifier genes, environment

Question 42

What is mosaicism?

Answer 42

Two of more genetically distinct populations of cells in one individual

Question 43

What is linkage analysis?

Answer 43

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

Question 44

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

Answer 44

Linkage disequilibrium (LD)

Question 45

High LD is indicative of?

Answer 45

No recombination

Question 46

Low LD is indicative of?

Answer 46

Recombination

Question 47

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

Answer 47

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