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> | '''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> | ||
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]]. | 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]]. | ||
The term ''Lynch syndrome'' is preferred as individuals with this syndrome often present with non-colorectal cancers. | |||
==Clinical== | ==Clinical== | ||
Revision as of 20:46, 6 April 2012
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.
The term Lynch syndrome is preferred as individuals with this syndrome often present with non-colorectal cancers.
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]
- Significantly more common in males.[2]
- Biliary tree carcinoma.[1]
- Pancreatic carcinoma.[1]
- Urinary system carcinoma.[1]
- More common in the ureter than in sporadic cancers.[4]
Genes
Special types
Muir-Torre syndrome
Muir-Torre syndrome is a subset of HNPCC that includes the presence of sebaceous adenomas.[8] It is caused by mutations in MSH2 or MLH1.[9]
See also
References
- ↑ 1.0 1.1 1.2 1.3 1.4 1.5 1.6 Online 'Mendelian Inheritance in Man' (OMIM) 120435
- ↑ 2.0 2.1 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/.
- ↑ Crockett, DG.; Wagner, DG.; Holmäng, S.; Johansson, SL.; Lynch, HT. (May 2011). "Upper urinary tract carcinoma in Lynch syndrome cases.". J Urol 185 (5): 1627-30. doi:10.1016/j.juro.2010.12.102. PMID 21419447.
- ↑ 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