Lynch syndrome
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
- Colorectal carcinoma.
- Non-endometrioid endometrial carcinoma.[2]
- 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.[6] It is caused by mutations in MSH2 or MLH1.[7]
See also
References
- ↑ 1.0 1.1 1.2 1.3 1.4 1.5 1.6 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.
- ↑ Online 'Mendelian Inheritance in Man' (OMIM) 158320