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Flashcards in Syndromes Deck (6)
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1

Li-Fraumeni syndrome 

- type of mutation

- cancers involved

Li-Fraumeni Syndrome

  • Autosomal dominant

 

  • Consists of germline mutations to p53 tumour suppressor gene

 

  • High incidence of malignancies particularly sarcomas and leukaemias

2

Diagnostic criteria for Li-Fraumeni syndrome

 

  • individual develops sarcoma under 45 years

 

  • first degree relative diagnosed with any cancer below age 45 years and another family member develops malignancy under 45 years or sarcoma at any age

3

BRACA 1 and 2

- genetics 

-cancers risk 

- what happens in men

BRCA 1 and 2

  • Carried on chromosome 17 (BRCA 1) and Chromosome 13 (BRCA 2)

 

  • Linked to developing breast cancer (60%) risk

 

  • Associated risk of developing ovarian cancer (55% with BRCA 1 and 25% with BRCA 2)

 

  • BRCA2 mutation is associated with prostate cancer in men

4

Lynch syndrome 

- genetics

- cancers involved 

- criteria used to identify high risk individuals (name)

Lynch Syndrome

  • Autosomal dominant

 

  • Develop colonic cancer and endometrial cancer at young age

 

  • 80% of affected individuals will get colonic and/ or endometrial cancer

 

  • High risk individuals may be identified using the Amsterdam criteria

5

Amsterdam criteria 

- what they are 

- what do they involve 

High-risk individuals may be identified using the Amsterdam criteria (Lynch syndrome)
 

  • Three or more family members with a confirmed diagnosis of colorectal cancer, one of whom is a first degree (parent, child, sibling) relative of the other two

 

  • Two successive affected generations

 

  • One or more colon cancers diagnosed under age 50 years

 

  • Familial adenomatous polyposis (FAP) has been excluded

6

Gardeners syndrome 

- genetics 

- what happens/ diseases

- management

Gardners syndrome

  • Autosomal dominant familial colorectal polyposis
  • Multiple colonic polyps
  • Extra colonic diseases include: skull osteoma, thyroid cancer and epidermoid cysts
  • Desmoid tumours are seen in 15%
  • Mutation of APC gene located on chromosome 5
  • Due to colonic polyps most patients will undergo colectomy to reduce risk of colorectal cancer
  • Now considered a variant of familial adenomatous polyposis coli