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Flashcards in Syndromes Deck (6)
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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


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


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


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


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


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