Difference between revisions of "Lynch syndrome"
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*''Lynch syndrome I'' - colon cancer associated. | *''Lynch syndrome I'' - colon cancer associated. | ||
*''Lynch syndrome II'' - non-colon cancer associated. | *''Lynch syndrome II'' - non-colon cancer associated. | ||
** More common in females (~50%) vs. males (~25%).<ref name=pmid19215248>{{Cite journal | last1 = Barrow | first1 = E. | last2 = Robinson | first2 = L. | last3 = Alduaij | first3 = W. | last4 = Shenton | first4 = A. | last5 = Clancy | first5 = T. | last6 = Lalloo | first6 = F. | last7 = Hill | first7 = J. | last8 = Evans | first8 = DG. | title = Cumulative lifetime incidence of extracolonic cancers in Lynch syndrome: a report of 121 families with proven mutations. | journal = Clin Genet | volume = 75 | issue = 2 | pages = 141-9 | month = Feb | year = 2009 | doi = 10.1111/j.1399-0004.2008.01125.x | PMID = 19215248 }}</ref> | |||
==Associations== | ==Associations== | ||
Revision as of 01:45, 11 November 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.
- More common in females (~50%) vs. males (~25%).[2]
Associations
- Colorectal carcinoma.
- Non-endometrioid endometrial carcinoma.[3]
- Stomach carcinoma.[1]
- Biliary tree carcinoma.[1]
- Pancreatic carcinoma.[1]
- Urinary system carcinoma.[1]
Genes
Special types
Muir-Torre syndrome
Muir-Torre syndrome is a subset of HNPCC that includes the presence of sebaceous adenomas.[7] It is caused by mutations in MSH2 or MLH1.[8]
See also
References
- ↑ 1.0 1.1 1.2 1.3 1.4 1.5 1.6 Online 'Mendelian Inheritance in Man' (OMIM) 120435
- ↑ Barrow, E.; Robinson, L.; Alduaij, W.; Shenton, A.; Clancy, T.; Lalloo, F.; Hill, J.; Evans, DG. (Feb 2009). "Cumulative lifetime incidence of extracolonic cancers in Lynch syndrome: a report of 121 families with proven mutations.". Clin Genet 75 (2): 141-9. doi:10.1111/j.1399-0004.2008.01125.x. PMID 19215248.
- ↑ 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.
- ↑ Online 'Mendelian Inheritance in Man' (OMIM) 158320