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 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/> | ||
==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== | ==See also== | ||
Revision as of 17:41, 24 September 2011
Li-Fraumeni syndrome is due to germline mutations in the gene TP53 (p53),[1] 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.
Associated cancers
This is not an exhaustive list:
- Adrenocortical carcinoma.[2]
- Breast cancer.[3]
- Osteosarcoma.[3]
- Chondrosarcoma.[3]
- Brain tumours.[3]
- Acute leukemia.[3]
- Soft tissue sarcomas.[3]
Li-Fraumeni variant
A germline mutation in CHEK2[4] 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).[4] In addition to breast and colon cancers, it has also been associated with prostate and thyroid cancer.[5]
Memory device for CHEK2 - two common cancers above and below the diaphragm:
- Breast.
- Thyroid.
- Colon.
- Kidney.
See also
References
- ↑ Online 'Mendelian Inheritance in Man' (OMIM) 191170
- ↑ Kumar, Vinay; Abbas, Abul K.; Fausto, Nelson; Aster, Jon (2009). Robbins and Cotran pathologic basis of disease (8th ed.). Elsevier Saunders. pp. 1157. ISBN 978-1416031215.
- ↑ 3.0 3.1 3.2 3.3 3.4 3.5 URL: http://emedicine.medscape.com/article/987356-overview. Accessed on: 19 March 2011.
- ↑ 4.0 4.1 Online 'Mendelian Inheritance in Man' (OMIM) 604373
- ↑ Mitchell, Richard; Kumar, Vinay; Fausto, Nelson; Abbas, Abul K.; Aster, Jon (2011). Pocket Companion to Robbins & Cotran Pathologic Basis of Disease (8th ed.). Elsevier Saunders. pp. 545. ISBN 978-1416054542.