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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 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. | '''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. TP53 is considered to be a tumour suppressor and like most tumour suppressors, inheritance is autosomal dominant. | 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/> | *Acute [[leukemia]].<ref name=emed987356ov/> | ||
*[[Soft tissue lesions|Soft tissue sarcomas]].<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'''rest 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== | ==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. | 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>{{Ref PCPBoD8|545}}</ref> | 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: | ''CHEK2'' associated cancers in a list: | ||