Li-Fraumeni syndrome

Li-Fraumeni 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:

References

↑ Online 'Mendelian Inheritance in Man' (OMIM) 191170
↑ 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.
↑ ^3.0 ^3.1 ^3.2 ^3.3 ^3.4 ^3.5 URL: http://emedicine.medscape.com/article/987356-overview. Accessed on: 19 March 2011.

[1] Online 'Mendelian Inheritance in Man' (OMIM) 191170

[Ref_PBoD8_1157-2] 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.

[emed987356ov-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.

[1]

[2]

[3]

Li-Fraumeni syndrome

Associated cancers

See also

References

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