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Difference between revisions of "Li-Fraumeni syndrome"
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Li-Fraumeni syndrome (view source)
Revision as of 23:20, 25 September 2011
, 23:20, 25 September 2011→Li-Fraumeni variant
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==Li-Fraumeni variant== | ==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. | 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 | 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>{{Ref PCPBoD8|545}}</ref> | ||
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> | |||
''CHEK2'' associated cancers in a list: | ''CHEK2'' associated cancers in a list: | ||