Difference between revisions of "Li-Fraumeni syndrome"

Li-Fraumeni syndrome (view source)

631 bytes added , 17:41, 24 September 2011

+Li-Fraumeni variant

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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 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.  TP53 is considered to be a tumour suppressor and like most tumour suppressors, inheritance is autosomal dominant.
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 *Acute [[leukemia]].<ref name=emed987356ov/>
 *[[Soft tissue lesions|Soft tissue sarcomas]].<ref name=emed987356ov/>
+==Li-Fraumeni variant==
+A germline mutation in CHEK2<ref name=omim604373>{{OMIM|604373}}</ref> is considered to a '''Li-Fraumeni variant''', as it interacts with TP53 and BRCA1.
+CHEK2 mutation 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 and thyroid cancer.<ref>{{Ref PCPBoD8|545}}</ref>
+Memory device for ''CHEK2'' - two common cancers above and below the diaphragm:
+*Breast.
+*Thyroid.
+*Colon.
+*Kidney.
 ==See also==