Li-Fraumeni syndrome

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Li-Fraumeni syndrome, also known as SBLA syndrome, is due to germline mutations in the gene TP53 (p53),[1] an important regulator of apoptosis and the cell cycle, i.e. cell division. It is implicated in a very large number of sporadic cancer.

Individuals with Li-Fraumeni syndrome are predisposed to cancer. TP53 is considered to be a tumour suppressor and like most tumour suppressors, inheritance is autosomal dominant.

Associated cancers

This is not an exhaustive list:

The alternate name SBLA syndrome is a mnemonic:[4]

Li-Fraumeni variant

A germline mutation in CHEK2[5] is considered to be a Li-Fraumeni variant, as it interacts with TP53 and BRCA1.

CHEK2 mutations are most strongly associated with breast cancer and colon cancer; thus, it is also known as hereditary breast & colorectal cancer (HBCC).[5] In addition to breast and colon cancers, it has also been associated with prostate, kidney and thyroid cancer.[6]

CHEK2 associated cancers in a list:

  • Breast.
  • Colon.
  • Thyroid.
  • Kidney.
  • Prostate.

See also

References

  1. Online 'Mendelian Inheritance in Man' (OMIM) 191170
  2. Kumar, Vinay; Abbas, Abul K.; Fausto, Nelson; Aster, Jon (2009). Robbins and Cotran pathologic basis of disease (8th ed.). Elsevier Saunders. pp. 1157. ISBN 978-1416031215.
  3. 3.0 3.1 3.2 3.3 3.4 3.5 URL: http://emedicine.medscape.com/article/987356-overview. Accessed on: 19 March 2011.
  4. Online 'Mendelian Inheritance in Man' (OMIM) 151623
  5. 5.0 5.1 Online 'Mendelian Inheritance in Man' (OMIM) 604373
  6. Mitchell, Richard; Kumar, Vinay; Fausto, Nelson; Abbas, Abul K.; Aster, Jon (2011). Pocket Companion to Robbins & Cotran Pathologic Basis of Disease (8th ed.). Elsevier Saunders. pp. 545. ISBN 978-1416054542.