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EMS - Genetics in Medicine > Familial Cancer Syndromes (5) > Flashcards

Familial Cancer Syndromes (5) Flashcards

1
Q

Penetrance

A

Percentage with a gene change who develop the condition - modified by genetic variations/environmental factors

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2
Q

Gatekeepers

A

Directly regulate tumour growth: monitor and control cell division and death, preventing accumulation of mutations

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3
Q

Caretakers

A

Improve genomic stability e.g. repair of mutations/carcinogen metabolism

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4
Q

Landscapers

A

Control the surrounding stromal environment

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5
Q

Tumour suppressor genes

A

Protect cells from becoming cancerous, loss of function increases the risk of cancer e.g. APC, BRAC1/2, TP53, Rb

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6
Q

Oncogenes

A

Regulate cell growth and differentiation, gain of function/activating mutations increase the risk of cancer e.g. growth and signal transduction factors, RET gene

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7
Q

Knudsen’s two hit hypothesis

A
  • Sporadic - two hits required in single cell (recessive)

- Inherited - one additional hit required in a single cell (autosomal dominant)

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8
Q

Most cancer syndromes are autosomal..

A

Dominant

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9
Q

Cancer syndromes that are autosomal recessive

A
  • MYH associated polyposis, Fanconi anaemia, Ataxia telangiectasia
  • Appears to skip generations and may account for some sporadic cases
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10
Q

Mutation types

A
  • Splice site mutations
  • Large deletions and duplications
  • Translocations
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11
Q

Sporadic cancer

A
  • Onset at older age
  • One cancer in individual
  • Unaffected family members
  • Cancers that are rarely genetic - cervix, lung
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12
Q

Familial cancer

A
  • Onset at younger age
  • Multiple primaries in individual
  • Other family members affected
  • Same type/genetically-related cancers
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13
Q

Most common type of cancers in children are

A

Brain tumours and haematological

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14
Q

Retinoblastoma

A
  • Childhood ocular cancer
  • Rb1 gene (tumour suppressor)
  • Genetic cases - one mutation is present in germline
  • Inherited cases occur at younger average age
  • Bilateral cases almost always germline
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15
Q

How common is retinoblastoma?

A

Very rare - 1 in 15,000-30,000 live births

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16
Q

Are there other cancer risks with retinoblastoma?

A

Yes e.g. osteosarcoma

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17
Q

Familial Adenomatous Polyposis (FAP)

A
  • Hundreds of bowel polyps/adenomas from teens onwards

- Colonoscopies, total colectomy late teens/early 20s

18
Q

How risky is FAP for bowel cancer?

A

up to 100% by 40 if not treated, accounts for 1% of all bowel cancers

19
Q

Features of FAP

A

CHRPE, desmoid tumours, osetomas

20
Q

What gene is involved in FAP?

A

APC tumour suppressor gene

21
Q

What inheritance is FAP?

A

Autosomal dominant inheritance

22
Q

Hereditary Non-Polyposis Colorectal Cancer (HNPCC)

A
  • Accounts for 2-3% of bowel cancers

- Polyps common, polyposis not

23
Q

What does polyposis mean?

A

Numerous internal polyps

24
Q

How risky is NHPCC for bowel cancer?

A

60-80% risk of bowel adenomas/cancer from mid 20s onwards

25
Q

Other cancer risks involved with NHPCC

A

Endometrial, ovarian, stomach, GU

26
Q

Genes involved in NHPCC

A

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

27
Q

What kind of inheritance is NHPCC?

A

Autosomal dominant

28
Q

Amsterdam Criteria for NHPCC shows what?

A

Who is at high risk

29
Q

Amsterdam Criteria for NHPCC

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
  • Tumours should be verified by pathologic examination
30
Q

Benefits of colonoscopic screening in NHPCC

A

Remove polyps/early detection of cancer improving survival

31
Q

How often should you do colonoscopic screening in NHPCC

A

Every 18-24 months from 25

32
Q

NHPCC preventative surgery

A

Women may consider hysterectomy

33
Q

BRCA 1 and 2

A

10% of breast cancers under 40

34
Q

What kind of inheritance is BRCA 1 and 2?

A

Autosomal dominant

35
Q

BRCA 1 and 2 common in..

A

Jewish

36
Q

Increased risk of which cancers with BRCA 1 and 2

A

Breast cancer (80%), ovarian (BRCA1 40%, BRCA2 15%), prostate, melanoma, male breast cancer

37
Q

Options for BRCA 1 and BRCA 2 gene carriers

A
  • Breast screening (annual MRI 30-50, annual mammography 35-40)
  • Risk-reducing mastectomies, BSO
  • Ovarian screening no use
38
Q

Li Fraumeni Syndrome

A
  • P53 mutations, rare
39
Q

Li Fraumeni Syndrome inheritance..

A

Autosomal dominant

40
Q

Li Fraumeni Syndrome risk of cancer

A

50% by age 40, close to 100% in lifetime

41
Q

Li Fraumeni Syndrome, which cancers at risk of

A

Breast, sarcoma, brain, adrenocortical, leukaemia

EMS - Genetics in Medicine (14 decks)

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