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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''', also known as '''SBLA syndrome''', is due to germline mutations in the gene TP53 (p53),<ref name=omim191170>{{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/> | |||
The alternate name '''SBLA syndrome''' is a ''mnemonic'':<ref name=omim151623>{{OMIM|151623}}</ref> | |||
*[[Sarcoma|'''S'''arcomas]]. | |||
*[[Invasive breast cancer|'''B'''reast cancer]]. | |||
*[[brain tumours|'''B'''rain tumours]]. | |||
*[[leukemia|'''L'''eukemia]]. | |||
*'''L'''aryngeal carcinoma. | |||
*[[Lung cancer|'''L'''ung cancer]]. | |||
*[[Adrenal cortical carcinoma|'''A'''drenal cortical carcinoma]]. | |||
==Li-Fraumeni variant== | |||
A germline mutation in CHEK2<ref name=omim604373>{{OMIM|604373}}</ref> 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).<ref name=omim604373/> In addition to breast and colon cancers, it has also been associated with prostate, kidney and thyroid cancer.<ref name=Ref_PCPBoD8_545>{{Ref PCPBoD8|545}}</ref> | |||
''CHEK2'' associated cancers in a list: | |||
*Breast. | |||
*Colon. | |||
*Thyroid. | |||
*Kidney. | |||
*Prostate. | |||
==See also== | ==See also== | ||
*[[Basics]]. | *[[Basics]]. | ||
*[[Immunohistochemistry]]. | *[[Immunohistochemistry]]. | ||
*[[p53]]. | |||
==References== | ==References== | ||
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[[Category:Syndromes]] | [[Category:Syndromes]] | ||
[[Category:Diagnosis]] | |||