Brainscape's Knowledge GenomeTM

Browse over 1 million classes created by top students, professors, publishers, and experts.


See full index

Principles of disease > Genetic Cancer Predisposition > Flashcards

Genetic Cancer Predisposition Flashcards

1
Q

What is a germline mutation

A

Gene change reproductive cell (egg or sperm)
Becomes incorporated into DNA of every cell in body of offspring

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

What kind of cancer does germline mutation cause?

A

Cancer Syndrome
Family cancer syndrome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

what 3 types of genes are involved in pre-disposition to cancer?

A

Oncogenes
Tumour-supressor Genes
DNA damage-response genes

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

What is a proto-oncogene?

A

A normal gene that codes for proteins which regulate cell growth/differentiation

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

What is an oncogene?

A

Mutated proto-oncogene

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

What does an oncogene do

A

Promote cell division
Promote cell proliferation
Causes cancer

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

What do tumour supressor genes do?

A

Inhibit cell cycle
Promote apoptosis

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

How many mutations are required to disable tumour supressor genes?

A

2, one for each “brake”

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

Explain the two-hit hypothesis?

A

Two mutations that disable 2 tumour suppressor genes, leading to cancer
1st mutation disables brake 1 (susceptible carrier)
2nd mutation disables 2nd brake (leads to canceR)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

What is a cell called with one tumour supressor gene disabled?

A

A susceptible carrier

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

What are DNA damage response genes?

A

DNA repair mechanisms

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

How many genes are invlved in DNA repair?

A

2

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

How does the failure of DNA damage response genes lead to cancer?

A

Both genes fail
Accumulation of mutations in other critical genes speeds up

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

What is the MMR gene?

A

Mismatch repair gene.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

What does a normal MMR gene do?

A

Repairs basic mutations

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

What does a defective MMR gene do?

A

Doesn’t repair mutations
Worsens mutation
(e.g.instead of fixing mutated base it alters the complementary one to match)

17
Q

What does a defective Mismatch repair gene lead to?

A

Micro satellite Instability (MSI)

18
Q

Give an example of a dominant inherited cancer syndrome cause by an oncogene?

A

MEN2 (multiple endocrine neoplasia)
Caused by RET gene

19
Q

Give an example of a dominatly inherited cancer syndrome caused by defective tumour supressor genes?

A

Breast/ovarian cancer more likely in people with defective BRCA1 or BRCA2 genes

20
Q

Example of cancer syndrome caused by defective DNA repair genes?

A

Lynch syndrome (HPNCC) gives people higher risk of cancers of digestive & gynaecological tracts

21
Q

What DNA repair genes are defective in Lynch syndrome?

A

MLH1
MSH2
‘Other’

22
Q

How else do genetics contribute to/cause cancer?

A

Autosomal Recessive Syndromes
Multiple modifier genes of lower genetic risk affect expression of more important genes

23
Q

Whats the name for new mutations?

A

De novo mutations

24
Q

Where do De Novo mutaions occur?

A

Parent germ cell

25
Q

Why do inherited cancer susceptibility genes appear to skip generation?

A

Mainly dominant with incomplete penetrance

26
Q

What are specifc risk factors for Breast Cancer?

A

Age
Early puberty
Late menopause
Using oestrogen

27
Q

What are specific risk factors for Colorectal cancer(CRC)?

A

High-fat Low-Fibre diets
Inflammatory Bowel Disease
Family history of CRC.

28
Q

How does an adenoma become a carcinoma?

A

Normal epithelium gains APC mutation
Hyper proliferative epithelium has K ras mutation
Adenoma experieicnes p53 mutation
Carcinoma produced

29
Q

What does polyposis mean?

A

Formation of multiple Adenomas

30
Q

What is FAP?

A

Familial Adenomatous Polyposis
Hereditary condition leading to formation of multiple adenomas in large intestine that can lead to colorectal cancer

31
Q

What is HNPCC?

A

Hereditary Non-Polyposis Colorectal Cancer
Hereditary condition leading to colorectal cancer with no adenomas

32
Q

What is the difference between genome & exome sequencing?

A

Genome sequencing - entire genome
Exome sequencing - only exon sequencing, no introns

33
Q

What is Microsatellite Instability?

A

Condition caused by defective MMR genes
Genes are hypermutatable
Multiple mutated nucleotides form microsatellite fragments

Principles of disease (47 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2024 Bold Learning Solutions. Terms and Conditions