Brainscape's Knowledge GenomeTM

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


See full index

PRINCIPLES OF FUN > genetic predisposition to cancer > Flashcards

genetic predisposition to cancer Flashcards

1
Q

what two types of gene mutations are there relating to cancer?

A

somatic and germline

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

what type of mutation causes cancer family syndromes?

A

germline

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

where are germline mutations present?

A

egg or sperm cells

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

what is a proto-oncogene?

A

normal gene that codes for proteins to regulate cell growth and differentiation

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

what is the effect of oncogenes?

A

accelerated cell division

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

what can change a proto oncogene into an oncogene?

A

mutation

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

how many mutations are sufficient for oncogenes to play a role in cancer development?

A

1

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

what are tumour suppressor genes?

A

cells “brakes” for cell growth

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

what are the effects of tumour suppression genes?

A

inhibit cell cycle

promote apoptosis

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

how many mutations must occur for tumour suppression genes to play a role in cancer development?

A

2

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

what do DNA damage-response genes do?

A

repair DNA

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

how many DNA damage response genes have to fail to cause cancer?

A

when both genes fail

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

what does mismatch repair failure lead to?

A

microsatellite instability

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

what is the effect of MMR?

A

corrects errors that spontaneously occur durinf DNA replication like single base mismatches or short insertions and deletions

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

what are created as a result of defective MMR?

A

novel microsatellites fragments called simple sequence repeats

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

what characterises a benign tumour?

A

tumour lacks the ability to metastasize

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

what characterises a dysplastic tumour?

A

benign tumour that has the potential to progress to malignancy

18
Q

what would you see histologically in a dysplastic tumour?

A

abnormal cell appearance and cell maturation

19
Q

what characterises a malignant tumour?

A

able to metastasize

20
Q

what is a de novo mutation?

A

new mutation that occurs in germ cell of a patient

21
Q

what is a retinoblastoma?

A

most common eye tumour in children

22
Q

what is the difference between nonheritable and heritable retinoblastoma?

A

unilateral in nonheritable
usually bilateral in heritable
increased risk of second primary cancers in heritable
family history in around 20% of cases in heritable
heritable cancers typically present at a younger age

23
Q

what are some risk factors for breast cancer?

A 
ageing
family history
dietary factors
lack of exercise
estrogen use
24
Q

what is the most common known gene that contributes to the development of breast cancer?

A

BRCA1

25
Q

what are some functions of BRCA1

A

checkpoint mediator
DNA damage signalling and repair
chromatin remodelling
transcription

26
Q

what are some functions of BRCA2?

A

DNA repair by homologous recombination

27
Q

what is the risk of developing a BRCA1 associated cancer?

A

Breast - 50-85%
second primary breast cancer - 40-60%
ovarian cancer - 15-45%

28
Q

what is the risk of developing a BRCA2 associated cancer?

A

breast cancer: 50-85%
male breast cancer: 6%
ovarian cancer: 10-20%

29
Q

what are some risk factors for colorectal cancer?

A 
ageing
personal history
high fat low fibre diet
IBS
family history of CRC
30
Q

what are some hereditary colorectal cancer syndromes?

A

non-polyposis

polyposis

31
Q

what is an example of a non-polyposis CRC syndrome?

A

hereditary non-polyposis colon cancer- HNPCC

32
Q

what are some example of polyposis CRC syndromes?

A

FAP - severe colonic polyposis
AFAP - less severe colonic polyposis
MAP - varying degrees of colonic polyposiss

33
Q

what does FAP stand for?

A

familial adenomatous polyposis

34
Q

what are some clinical features of HNPCC?

A

tumour site throughout colon rather than descending colon

can lead to the development of extracolonic cancers (endometrium, ovary)

35
Q

what are some clinical features of FAP?

A

over 90% penetrance for adenomas
risk of extracolonic tumours
CHRPE
untreated polyposis leads to 100% risk of cancer

36
Q

what does CHRPE stand for?

A

congenital hypertrophy of the retinal pigment epithelium

37
Q

what are some clinical features of AFAP?

A 
later onset
few colonic adenomas
not associated with CHRPE
upper GI lesions
associated with mutations at the 5' and 3' ends of APC gene
38
Q

what can oppose the effect of inherited cancer genes?

A

multiple modifier genes of lower gentic risk

39
Q

how are adenomatous polyposis syndromes managed?

A

surveillance
surgery
chemoprevention

40
Q

are the majority of cancers sporadic or inherited?

A

sporadic

41
Q

what is the effect of an inherited mutation?

A

increased PREDISPOSITION to cancer

PRINCIPLES OF FUN (29 decks)

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