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GIM > Familial cancer > Flashcards

Familial cancer Flashcards

1
Q

Causes of familial cancer

A

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.

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2
Q

What is the two hit hypothesis is cancer

A

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

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3
Q

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

A

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

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4
Q

define peneterance

A

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

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5
Q

How does cancer develop on a cellular level

A

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

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6
Q

function of gatekeeper genes

A

monitor and control cell division

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7
Q

function of caretaker genes

A

improve genomic stability (repair mutations

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8
Q

function of landscapers

A

control the surrounding stromal environment

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9
Q

what is the function of tumour suppressor genes

A

protect cells from becoming cancerous.

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10
Q

what is the function of oncogenes

A

regulate cell growth and differentiation.

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11
Q

examples of tumour suppressor genes

A

APC, BRAC1/2, TP53, Rb

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12
Q

do tumour suppressor genes gain or lose function to become cancerous

A

loss function

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13
Q

do oncogenes gain or lose function to become cancerous

A

gain function

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14
Q

examples of oncogenes

A

growth and signal transduction factors , RET gene

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15
Q

what is the name for the 2 hit hypothesis

A

Knudsons

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16
Q

Is cancer a autosomal dominant or recessive condition

A

autosomal dominant.

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17
Q

At a cellular level is cancer a dominant or recessive condition

A

recessive (2 hit hypothesis)

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18
Q

Give a example of a rare autosomal recessive condition

A

MYH associated polyposis, faconi anaemia and Ataxia telaniectasia.

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19
Q

What are 6 common types of mutation which can occur.

A

– 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

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20
Q

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

A
  • 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
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21
Q

does sporadic cancer develop at a young or old age

A

old.

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22
Q

does familial cancer develop at a young or old age

A

young.

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23
Q

examples of cancers which are mainly sporadic

A

cervical and lung

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24
Q

are other family members affected in a sporadic cancer

A

No

25
Q

are other family members affected in a familial cancer

A

Yes.

26
Q

what type are most adult cancers

A

epithelial

27
Q

what type are most children’s cancers

A

haematogenous

28
Q

what are the main disadvantages of genetic assessment

A
  • Anxiety/unhappiness – self, children, other relatives
  • Genetic discrimination
  • Results may not lead to any change in management
  • Financial costs to NHS
29
Q

what is the difference between diagnostic and predictive testing

A 
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
Q

what is retinoblastoma

A

Childhood ocular cancer

31
Q

what is the gene affected in retinoblastoma

A

Rb gene (TUMOUR SUPPRESSOR)

32
Q

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

A

familial.

33
Q

what is FAP - familial adenomatous polyposis

A

Hundreds of bowel polyps (adenomas) from teens onwards

34
Q

what cancer does FAP predispose to is untreated

A

bowel cancer.

35
Q

what gene is affected in FAP

A

APC (TUMOUR SUPPRESSOR)

36
Q

What type of inheritance is FAP

A

autosomal dominant.

37
Q

what is used to diagnose FAP

A

colonoscopy

total colectomy

38
Q

define polyposis

A

numerous polyps

39
Q

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

A

bowel cancer.

40
Q

What type of inheritance is hereditary non-polyposis colorectal cancer

A

autosomal dominant.

41
Q

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

A

endometrial/ovarian/stomach/GU

42
Q

what genes cause hereditary non polyposis colorectal cancer

A

Mismatch repair genes

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

43
Q

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

A

Amsterdam criteria

44
Q

What is the Amsterdam criteria.

A
  • 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
Q

benefits of colonscopic screening in HNPCC

What is it used to detect

A

Removal of polyps/early detection of cancer improves survival

46
Q

when should patient with HNPCC start to have colonoscopies.

A

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

47
Q

HNPCC preventative surgery

A

Prophylactic colectomy is not usually recommended

However, women may consider hysterectomy +/- BSO

48
Q

what are BRAC1 and BRAC2 involved in

A

DNA repair.

49
Q

what inheritance is breast cancer

A

autosomal dominant.

50
Q

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

A

. prostate, melanoma, male breast cancer

51
Q

What can BRAC1/BRAC 2 carrier do.

A
  • 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
Q

what genes does Li Fraumeni syndrome affect

A

P53 mutations

53
Q

what inheritance is Li Fraumen

A

autosomal dominant.

54
Q

what cancers does Li Fraumeni cause

A

Breast, sarcoma, brain, adrenocortical, leukaemia

55
Q

why could Li Frumeni patient avoid radiotherapy

A

induces other cancers

56
Q

what medication may potential prevent polyps

blood thinner

A

apirin)

57
Q

signs of FAP

A

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

58
Q

what cancer does RB gene predispose to except retinoblastoma

A

osteosarcoma.

GIM (14 decks)

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