Difference between revisions of "Lynch syndrome"
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''' | '''Lynch syndrome''', also '''hereditary non-polyposis colorectal cancer syndrome''' (abbreviated '''HNPCC'''), is a constellation of clinical findings caused by a mutation in a mismatch repair gene, of which there are several.<ref name=OMIM120435>{{OMIM|120435}}</ref> | ||
==Muir-Torre syndrome== | As the name suggests, HNPCC is a form of inherited [[colorectal cancer]] that is not characterized by abundant [[intestinal polyps]] (non-polyposis), as in [[adenomatous polyposis coli]]. | ||
==Clinical== | |||
Divided into:<ref name=OMIM120435>{{OMIM|120435}}</ref> | |||
*''Lynch syndrome I'' - colon cancer associated. | |||
*''Lynch syndrome II'' - non-colon cancer associated. | |||
==Associations== | |||
*Colorectal carcinoma. | |||
*Endometrioid endometrial carcinoma.<ref name=pmid20396392>{{cite journal |author=Okuda T, Sekizawa A, Purwosunu Y, ''et al.'' |title=Genetics of endometrial cancers |journal=Obstet Gynecol Int |volume=2010 |issue= |pages=984013 |year=2010 |pmid=20396392 |pmc=2852605 |doi=10.1155/2010/984013 |url=}}</ref> | |||
*Stomach.<ref name=OMIM120435>{{OMIM|120435}}</ref> | |||
*Biliary tree.<ref name=OMIM120435>{{OMIM|120435}}</ref> | |||
==Genes== | |||
*MSH2 gene.<ref name=OMIM120435>{{OMIM|120435}}</ref> | |||
*MLH1 gene.<ref name=OMIM120436>{{OMIM|120436}}</ref> | |||
*PMS2 gene.<ref name=OMIM600259>{{OMIM|600259}}</ref> | |||
*MSH6 gene.<ref name=OMIM600678>{{OMIM|600678}}</ref> | |||
*Others. | |||
==Special types== | |||
===Muir-Torre syndrome=== | |||
Muir-Torre syndrome is a subset of HNPCC that includes the presence of [[sebaceous adenoma]]s.<ref>{{Ref PBoD8|1177}}</ref> | Muir-Torre syndrome is a subset of HNPCC that includes the presence of [[sebaceous adenoma]]s.<ref>{{Ref PBoD8|1177}}</ref> | ||
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==References== | ==References== | ||
{{Reflist| | {{Reflist|2}} | ||
[[Category:Syndromes]] | [[Category:Syndromes]] | ||
[[Category:Gastrointestinal pathology]] | [[Category:Gastrointestinal pathology]] | ||
Revision as of 13:16, 27 April 2011
Lynch syndrome, also hereditary non-polyposis colorectal cancer syndrome (abbreviated HNPCC), is a constellation of clinical findings caused by a mutation in a mismatch repair gene, of which there are several.[1]
As the name suggests, HNPCC is a form of inherited colorectal cancer that is not characterized by abundant intestinal polyps (non-polyposis), as in adenomatous polyposis coli.
Clinical
Divided into:[1]
- Lynch syndrome I - colon cancer associated.
- Lynch syndrome II - non-colon cancer associated.
Associations
Genes
Special types
Muir-Torre syndrome
Muir-Torre syndrome is a subset of HNPCC that includes the presence of sebaceous adenomas.[6]
See also
References
- ↑ 1.0 1.1 1.2 1.3 1.4 Online 'Mendelian Inheritance in Man' (OMIM) 120435
- ↑ Okuda T, Sekizawa A, Purwosunu Y, et al. (2010). "Genetics of endometrial cancers". Obstet Gynecol Int 2010: 984013. doi:10.1155/2010/984013. PMC 2852605. PMID 20396392. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2852605/.
- ↑ Online 'Mendelian Inheritance in Man' (OMIM) 120436
- ↑ Online 'Mendelian Inheritance in Man' (OMIM) 600259
- ↑ Online 'Mendelian Inheritance in Man' (OMIM) 600678
- ↑ Kumar, Vinay; Abbas, Abul K.; Fausto, Nelson; Aster, Jon (2009). Robbins and Cotran pathologic basis of disease (8th ed.). Elsevier Saunders. pp. 1177. ISBN 978-1416031215.