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Year 2 EMS GiM > Familial Cancer > Flashcards

Familial Cancer Flashcards

1
Q

What are the main gene mutations that lead the cancer? (2)

A
  • Caretaker genes

- Gatekeeper genes

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2
Q

What are the main categories of environmental factors that lead the cancer?

A
  • Macro environment (e.g. chemicals, viruses)

- Micro environment (e.g. hormones, radicals)

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3
Q

What is the multistage process of colon carcinogenesis?

A 
Normal epithelium
>> hyperproliferative epithelium
>> adenoma (early - intermediate - late)
>> carcinoma 
>> metastasis
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4
Q

What is an inherited cancer?

A

Inherited genetic mutations increase an individual’s chance of developing cancer.
-e.g. BRCA

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5
Q

What is penetrance?

A

Percentage with a gene change who develop the condition.

-may be altered by genes/environment

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6
Q

What is the function of gatekeeper genes?

A

Directly regulate tumour growth.

  • monitor / control cell division and death
  • prevent accumulations of mutations
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7
Q

What is the main function of caretaker genes?

A

Improve genomic stability.

-e.g. repair mutations

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8
Q

What is the main function of landscaper genes?

A

Control the surrounding stromal environment.

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9
Q

Give an example of how importance of gene function affects the likelihood of developing cancer.

A

COLORECTAL CANCER:

  • gatekeeper mutation (>95%)
  • caretaker mutation (70%)
  • landscaper mutation (10-20%)
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10
Q

What is the effect of loss of function of tumour suppressor genes?

A

Loss of function increases the risk of cancer.

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11
Q

Give some examples of tumour suppressor genes.

A

APC
BRCA
TP53
Rb

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12
Q

What is the function of oncogenes?

A

Regulate cell growth and differentiation.

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13
Q

How can oncogenes increase the risk of cancer?

A

Mutation&raquo_space; gain of function&raquo_space; increased risk of cancer.

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14
Q

What is Knudson’s 2 hit hypothesis?

A

Cancer is the result of multiple mutations.

  • recessive at cellular level (i.e. need both genes inactivated)
  • e.g. retinoblastoma
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15
Q

According the Knudson’s 2 hit hypothesis, what is the difference between sporadic and inherited cancers?

A

Sporadic - 2 ‘hits’ required in a cell.

Inherited - 1 additional ‘hit’ required in a cell (inherit 1).

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16
Q

What sort of inheritance pattern do most cancer syndromes show?

A

Autosomal dominant.

-for cancer RISK

17
Q

How do autosomal recessive cancer syndromes account for some sporadic disease?

A

Must inherit both copies in order to have an increased cancer risk.

  • appears to skip generations
  • e.g. Fanconi anaemia
18
Q

How many generations should be included when taking a family history?

A

At least 2 generations.

19
Q

What are the main differences between sporadic and familial cancers?

A

SPORADIC

  • onset at older age
  • 1 cancer in individual
  • family unaffected

FAMILIAL

  • onset at younger age
  • multiple 1* cancers in individual
  • other family members affected
20
Q

How is diagnostic and predictive testing usually used for cancer diagnosis?

A

DIAGNOSTIC - testing on DNA of relative with cancer to identify familial mutation

PREDICTIVE - if mutation is identified, test family for specific mutation to determine risk

21
Q

What are some disadvantages of genetic testing in cancer?

A
  • Anxiety
  • May not lead to change in management
  • Costly to NHS
22
Q

What is retinoblastoma?

A

Rare childhood ocular cancer.

-classic example of 2-hit hypothesis

23
Q

What gene is mutated in retinoblastoma?

A

Rb1 gene.

24
Q

How does retinoblastoma develop?

A

Both Rb1 genes mutated/lost.

  • inherited cases (1 mutation in germline) present at younger age
  • bilateral cases are almost always germline
25
Q

What is retinoblastoma associated with?

A

Increased risk of other cancers.

  • due to radiation
  • e.g. osteosarcoma
26
Q

What is Familial Adenomatous Polyposis (FAP)?

A

Hundreds of polyps in bowel.

-high bowel cancer risk

27
Q

How can FAP be inherited?

A

Autosomal dominant inheritance.

-APC tumour suppressor gene

28
Q

What is the inheritance pattern of HNPCC?

A

Autosomal dominant inheritance.

  • mismatch repair genes
  • e.g. MLH1, MSH2, PMS 1
29
Q

What is the Amsterdam criteria for HNPCC?

A

5 criteria used to identify HNPCC:

e.g. 2 affected generations, FAP excluded, tumours verifieds, etc

30
Q

How is HNPCC managed?

A

Colonscopy every 2 years and removal of polyps.

- high cancer risk

31
Q

What process are BRCA genes involved in?

A

DNA repair.

-autosomal dominant inheritance

32
Q

What is the risk of breast cancer with BRCA gene?

A

80%.

33
Q

What are the options for BRCA gene carriers?

A
  • Breast screening
  • Mastectomy
  • Lifestyle changes
34
Q

What mutation is associated with Li Fraumeni syndrome?

A

P53 mutation.

  • autosomal dominant
  • ~100% lifetime risk of cancer (e.g. breast, sarcoma)

Year 2 EMS GiM (12 decks)

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