Difference between revisions of "Li-Fraumeni syndrome"
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'''Li-Fraumeni syndrome''' is due to germline mutations in the gene TP53 (p53),<ref>{{OMIM|191170}}</ref> an important regulator of apoptosis and the cell cycle, i.e. cell division. It is implicated in a very large number of sporadic cancer. | '''Li-Fraumeni syndrome''' is due to germline mutations in the gene TP53 (p53),<ref>{{OMIM|191170}}</ref> 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. | 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== | ==Associated cancers== | ||
This is not an exhaustive list: | This is not an exhaustive list: | ||
*[[Adrenocortical carcinoma]].<ref name=Ref_PBoD8_1157>{{Ref PBoD8|1157}}</ref> | *[[Adrenocortical carcinoma]].<ref name=Ref_PBoD8_1157>{{Ref PBoD8|1157}}</ref> | ||
*[[Breast cancer]].<ref name=emed987356ov>URL: [http://emedicine.medscape.com/article/987356-overview http://emedicine.medscape.com/article/987356-overview]. Accessed on: 19 March 2011.</ref> | |||
*[[Osteosarcoma]].<ref name=emed987356ov/> | |||
*[[Chondrosarcoma]].<ref name=emed987356ov/> | |||
*[[Brain tumours]].<ref name=emed987356ov/> | |||
*Acute [[leukemia]].<ref name=emed987356ov/> | |||
*[[Soft tissue lesions|Soft tissue sarcomas]].<ref name=emed987356ov/> | |||
==See also== | ==See also== | ||
Revision as of 20:18, 19 March 2011
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:
- Adrenocortical carcinoma.[2]
- Breast cancer.[3]
- Osteosarcoma.[3]
- Chondrosarcoma.[3]
- Brain tumours.[3]
- Acute leukemia.[3]
- Soft tissue sarcomas.[3]
See also
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.