Difference between revisions of "Lynch syndrome"

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==Genes==
==Genes==
*MSH2 gene.<ref name=OMIM120435>{{OMIM|120435}}</ref>
*MSH2 gene<ref name=OMIM120435>{{OMIM|120435}}</ref> - most common.
*MLH1 gene.<ref name=OMIM120436>{{OMIM|120436}}</ref>
*MLH1 gene<ref name=OMIM120436>{{OMIM|120436}}</ref> - second most common.
*PMS2 gene.<ref name=OMIM600259>{{OMIM|600259}}</ref>
*PMS2 gene.<ref name=OMIM600259>{{OMIM|600259}}</ref>
*MSH6 gene.<ref name=OMIM600678>{{OMIM|600678}}</ref>
*MSH6 gene.<ref name=OMIM600678>{{OMIM|600678}}</ref>

Revision as of 17:09, 7 May 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]

Lame mnemonic GP CUBE:

  • Gastric.
  • Pancreas.
  • CRC.
  • UCC.
  • Biliary.
  • Endometrial.

Note:

  • All the cancers are below the diaphragm.

Genes

  • MSH2 gene[1] - most common.
  • MLH1 gene[5] - second most common.
  • PMS2 gene.[6]
  • MSH6 gene.[7]
  • Others.

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. ↑ 1.0 1.1 1.2 1.3 1.4 1.5 1.6 Online 'Mendelian Inheritance in Man' (OMIM) 120435
  2. ↑ 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.
  3. ↑ 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/.
  4. ↑ 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.
  5. ↑ Online 'Mendelian Inheritance in Man' (OMIM) 120436
  6. ↑ Online 'Mendelian Inheritance in Man' (OMIM) 600259
  7. ↑ Online 'Mendelian Inheritance in Man' (OMIM) 600678
  8. ↑ 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.
  9. ↑ Online 'Mendelian Inheritance in Man' (OMIM) 158320
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