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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== | ||