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Oncology > Hereditary cancer syndromes > Flashcards

Hereditary cancer syndromes Flashcards

1
Q

What genes can cause breast cancer?

A

BRCA1/2

Tumour suppressor genes

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2
Q

When should someone be referred for BRCA testing?

A
  1. 1st degree relative:
    - <40 years and breast cancer
    - male breast cancer
    - <50 years and bilateral breast cancer
  2. 2 x 1st and 2nd degree relatives with breast/ovarian cancer
  3. 3x 1st and 2nd degree relatives with breast cancer
  4. Ashkenazi ancestry, sarcoma /,45, multiple cancers at a young age
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3
Q

What is the management/prophylaxis for patients with the BRCA1/2 gene?

A

Annual MRI (30-49) and mammograms (50-69)
Prophylactic tamoxifen/raloxifene
Mastectomy/oopherectomy

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4
Q

When should someone be tested for lynch syndrome?

A

3 affected relatives (colon cancer)

  • one 1st generation
  • 2 successive generations
  • one <50
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5
Q

What gene is mutated in lynch syndrome?

A

Mismatch repair genes
Autosomal dominant
80% chance of colon cancer

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6
Q

What is the management/prophylaxis for patients with lynch syndrome?

A

Colonoscopy every 2 years (25-75)

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7
Q

What gene is mutated in FAP?

A

APC gene
Tumour suppressor
Penetrance 100% by 50 years

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8
Q

What is the management/prophylaxis for patients with FAP?

A 
Surveillance sigmoidoscopy from 12 years 
Prophylactic surgery (before 25 years) depending on polyp size, number and dysplasia
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9
Q

What cancer is Peutz-Jeghers associated with?

A

Colon 10-20%
GI 50-60%
Breast 60%

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10
Q

What gene is mutated in Peutz-Jeghers?

A

STK11 gene

Tumour suppressor

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11
Q

What is the management/prophylaxis for patients with Peutz-Jeghers?

A

Colonoscopy every 3 years (from 18)

Endoscopy every 3 years (from 25)

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12
Q

What gene mutations are associated with prostate cancer?

A

BRCA1/2
Mismatch repair
HOXB13 - interacts with androgen receptor

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13
Q

What cancer are people with Von Hippel-Lindau syndrome predisposed to?

A

Clear cell renal carcinoma

Phaeochromocytoma

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14
Q

What type of gene is MEN1?

A

Tumour suppressor

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15
Q

What does the MEN1 gene cause?

A

Parathyroid hyperplasia/adenoma
Pancreas endocrine tumours
Pituiatry prolactinoma/GH secreting tumour

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16
Q

What type of gene is MEN2?

A

ret proto-oncogene

17
Q

What does the MEN2a gene cause?

A

Medullary thyroid carcinoma
Phaeochromocytoma
Parathyroid hyperplasia

18
Q

What does the MEN2b gene cause?

A

Medullary thyroid carcinoma
Phaeochromocytoma
Mucosal neuromas
Marfanism

19
Q

How is MEN2 managed?

A

Prophylactic thyroidectomy

20
Q

What gene is mutated in Li fraumeni?

A

tP53 - tumour suppressor

21
Q

What cancers are people with Li fraumeni at risk of developing?

A 
Bone - osteosarcoma 
Breast 
Brain 
Adrenocortical carcinoma 
Acute leukamia

Oncology (7 decks)

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