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.[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.[1]
  • Biliary tree.[1]

Genes

  • MSH2 gene.[1]
  • MLH1 gene.[3]
  • PMS2 gene.[4]
  • MSH6 gene.[5]
  • Others.

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. 1.0 1.1 1.2 1.3 1.4 Online 'Mendelian Inheritance in Man' (OMIM) 120435
  2. 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/.
  3. Online 'Mendelian Inheritance in Man' (OMIM) 120436
  4. Online 'Mendelian Inheritance in Man' (OMIM) 600259
  5. Online 'Mendelian Inheritance in Man' (OMIM) 600678
  6. 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.