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Flashcards in Familial cancer Deck (58):
1

Causes of familial cancer

Genetics
Care taker genes- DNA repair, carcinogen metabolism.
Gatekeeper genes- cell cycle control

Environment
Macro- environment- chemical, viruses, radiation and physics agents.
Micro- environment- oxyradicals, hormones and growth factors.

2

What is the two hit hypothesis is cancer

both alleles must have a mutation for the cancer to develop.

3

why is it easier to develop cancer if you have I mutated gene (relate to 2 hit hypothesis)

In inherited cancer the first mutation is already present and therefore it is much easier to develop cancer

4

define peneterance

percentage of people with the gene change who develop the condition.

5

How does cancer develop on a cellular level

series of genetic changes within cells leading to abnormal behaviour and histology

6

function of gatekeeper genes

monitor and control cell division

7

function of caretaker genes

improve genomic stability (repair mutations

8

function of landscapers

control the surrounding stromal environment

9

what is the function of tumour suppressor genes

protect cells from becoming cancerous.

10

what is the function of oncogenes

regulate cell growth and differentiation.

11

examples of tumour suppressor genes

APC, BRAC1/2, TP53, Rb

12

do tumour suppressor genes gain or lose function to become cancerous

loss function

13

do oncogenes gain or lose function to become cancerous

gain function

14

examples of oncogenes

growth and signal transduction factors , RET gene

15

what is the name for the 2 hit hypothesis

Knudsons

16

Is cancer a autosomal dominant or recessive condition

autosomal dominant.

17

At a cellular level is cancer a dominant or recessive condition

recessive (2 hit hypothesis)

18

Give a example of a rare autosomal recessive condition

MYH associated polyposis, faconi anaemia and Ataxia telaniectasia.

19

What are 6 common types of mutation which can occur.

– Missense- incorrect amino acid due to single base change
– Nonsense- incorrect sequence causes shortening of protein due to single base change.
– Frame shift- frame shift of one DNA base results in abnormal amino acid sequence.
– Splice site mutations
– Large deletions and duplications
– Translocations

20

How do you take a history to help diagnose whether a cancer is familial or not.

• Include maternal and paternal sides
• At least 3 generations
• Children, siblings, parents, uncles, aunts, nephews, nieces, grandparents, cousins
• Types of cancer, age of diagnosis
• Confirm if possible – medical records, cancer registries, death certificate

21

does sporadic cancer develop at a young or old age

old.

22

does familial cancer develop at a young or old age

young.

23

examples of cancers which are mainly sporadic

cervical and lung

24

are other family members affected in a sporadic cancer

No

25

are other family members affected in a familial cancer

Yes.

26

what type are most adult cancers

epithelial

27

what type are most children's cancers

haematogenous

28

what are the main disadvantages of genetic assessment

• Anxiety/unhappiness – self, children, other relatives
• Genetic discrimination
• Results may not lead to any change in management
• Financial costs to NHS

29

what is the difference between diagnostic and predictive testing

diagnostic testing (mutational analysis) usually performed on DNA from a relative affected with cancer to try to identify the familial mutation.
If a mutation is identified in the family, predictive testing for the specific mutation may then be offered to other relatives to determine whether or not they are at risk

30

what is retinoblastoma

Childhood ocular cancer

31

what is the gene affected in retinoblastoma

Rb gene (TUMOUR SUPPRESSOR)

32

If both the eyes are affected in retinoblastoma, is the cancer likely to be familial or sporadic

familial.

33

what is FAP - familial adenomatous polyposis

Hundreds of bowel polyps (adenomas) from teens onwards

34

what cancer does FAP predispose to is untreated

bowel cancer.

35

what gene is affected in FAP

APC (TUMOUR SUPPRESSOR)

36

What type of inheritance is FAP

autosomal dominant.

37

what is used to diagnose FAP

colonoscopy
total colectomy

38

define polyposis

numerous polyps

39

What type of cancer does Hereditary Non-polyposis colorectal cancer cause

bowel cancer.

40

What type of inheritance is hereditary non-polyposis colorectal cancer

autosomal dominant.

41

what other cancers can you develop if you have hereditary non-poylposis cancer.

endometrial/ovarian/stomach/GU

42

what genes cause hereditary non polyposis colorectal cancer

Mismatch repair genes
MLH1 (50%), MSH2 (40%), MSH6 (10%), PMS1/2 (rare)

43

what criteria is used to diagnose hereditary non-polyposis colorectal cancer

Amsterdam criteria

44

What is the Amsterdam criteria.

• One member diagnosed with colorectal cancer before age 50 years
• Two affected generations
• Three affected relatives, one of them a first-degree relative of the other two
• FAP should be excluded-using histology.
• Tumours should be verified by pathologic examination

45

benefits of colonscopic screening in HNPCC
(What is it used to detect)

Removal of polyps/early detection of cancer improves survival

46

when should patient with HNPCC start to have colonoscopies.

Patients with HNPCC should have colonoscopy ~every 18-24 months from age ~25

47

HNPCC preventative surgery

Prophylactic colectomy is not usually recommended
However, women may consider hysterectomy +/- BSO

48

what are BRAC1 and BRAC2 involved in

DNA repair.

49

what inheritance is breast cancer

autosomal dominant.

50

Inheritance of BRAC1/BRAC2 (tumour suppressor genes) increases the risk of which cancers other than breast

. prostate, melanoma, male breast cancer

51

What can BRAC1/BRAC 2 carrier do.

• Breast screening – annual MRI 30-50, annual + mammography from ~35-40
• Risk-reducing mastectomies +/- reconstruction
• Risk-reducing BSO (ovarian screening probably no use)
• Lifestyle changes
• Pharmacological prevention studies

52

what genes does Li Fraumeni syndrome affect

P53 mutations

53

what inheritance is Li Fraumen

autosomal dominant.

54

what cancers does Li Fraumeni cause

Breast, sarcoma, brain, adrenocortical, leukaemia

55

why could Li Frumeni patient avoid radiotherapy

induces other cancers

56

what medication may potential prevent polyps
(blood thinner)

apirin)

57

signs of FAP

CHRPE (flat, pigmented spot within the outer layer of the retina), desmoid tumours, osteomas (benign tumour of new piece of bone growing)

58

what cancer does RB gene predispose to except retinoblastoma

osteosarcoma.