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. | ||
| Line 12: | Line 12: | ||
*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'''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== | ==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: | ||
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*[[Basics]]. | *[[Basics]]. | ||
*[[Immunohistochemistry]]. | *[[Immunohistochemistry]]. | ||
*[[p53]]. | |||
==References== | ==References== | ||
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[[Category:Syndromes]] | [[Category:Syndromes]] | ||
[[Category:Diagnosis]] | |||
Latest revision as of 15:29, 19 March 2018
Li-Fraumeni syndrome, also known as SBLA 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]
The alternate name SBLA syndrome is a mnemonic:[4]
- Sarcomas.
- Breast cancer.
- Brain tumours.
- Leukemia.
- Laryngeal carcinoma.
- Lung cancer.
- Adrenal cortical carcinoma.
Li-Fraumeni variant
A germline mutation in CHEK2[5] 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).[5] In addition to breast and colon cancers, it has also been associated with prostate, kidney and thyroid cancer.[6]
CHEK2 associated cancers in a list:
- Breast.
- Colon.
- Thyroid.
- Kidney.
- Prostate.
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.
- ↑ Online 'Mendelian Inheritance in Man' (OMIM) 151623
- ↑ 5.0 5.1 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.