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Hereditary nonpolyposis colorectal cancer type 6(HNPCC6)

MedGen UID:
348732
Concept ID:
C1860896
Neoplastic Process
Synonyms: Colon cancer, hereditary nonpolyposis, type 6; Colon cancer, hereditary nonpolyposis, type 6, somatic; HNPCC6
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Sources: HPO, Orphanet
Autosomal dominant inheritance refers to genetic conditions that occur when a mutation is present in one copy of a given gene (i.e., the person is heterozygous).
 
Gene (location): TGFBR2 (3p24.1)
OMIM®: 614331

Clinical features

Hereditary nonpolyposis colorectal carcinoma
MedGen UID:
429057
Concept ID:
CN005847
Finding
Hereditary nonpolyposis colorectal carcinoma
MedGen UID:
429057
Concept ID:
CN005847
Finding

Recent clinical studies

Etiology

Warrier SK, Yeung JM, Lynch AC, Heriot AG
World J Surg 2014 Jul;38(7):1827-33. doi: 10.1007/s00268-014-2470-x. PMID: 24510247
Yusup A, Wang HJ, Rahmutula A, Sayim P, Zhao ZL, Zhang GQ
World J Gastroenterol 2013 Nov 7;19(41):7183-8. doi: 10.3748/wjg.v19.i41.7183. PMID: 24222964Free PMC Article
Thiel A, Heinonen M, Kantonen J, Gylling A, Lahtinen L, Korhonen M, Kytölä S, Mecklin JP, Orpana A, Peltomäki P, Ristimäki A
Virchows Arch 2013 Nov;463(5):613-21. Epub 2013 Aug 21 doi: 10.1007/s00428-013-1470-9. [Epub ahead of print] PMID: 23963522
Tanskanen T, Gylfe AE, Katainen R, Taipale M, Renkonen-Sinisalo L, Mecklin JP, Järvinen H, Tuupanen S, Kilpivaara O, Vahteristo P, Aaltonen LA
Scand J Gastroenterol 2013 Jun;48(6):672-8. Epub 2013 Apr 2 doi: 10.3109/00365521.2013.783102. [Epub ahead of print] PMID: 23544471
Shi Z, Johnstone D, Talseth-Palmer BA, Evans TJ, Spigelman AD, Groombridge C, Milward EA, Olynyk JK, Suchy J, Kurzawski G, Lubinski J, Scott RJ
Int J Cancer 2009 Jul 1;125(1):78-83. doi: 10.1002/ijc.24304. PMID: 19291797

Diagnosis

Toon CW, Chou A, DeSilva K, Chan J, Patterson J, Clarkson A, Sioson L, Jankova L, Gill AJ
Mod Pathol 2014 May;27(5):644-50. Epub 2013 Oct 25 doi: 10.1038/modpathol.2013.200. [Epub ahead of print] PMID: 24157612Free PMC Article
Yusup A, Wang HJ, Rahmutula A, Sayim P, Zhao ZL, Zhang GQ
World J Gastroenterol 2013 Nov 7;19(41):7183-8. doi: 10.3748/wjg.v19.i41.7183. PMID: 24222964Free PMC Article
Thiel A, Heinonen M, Kantonen J, Gylling A, Lahtinen L, Korhonen M, Kytölä S, Mecklin JP, Orpana A, Peltomäki P, Ristimäki A
Virchows Arch 2013 Nov;463(5):613-21. Epub 2013 Aug 21 doi: 10.1007/s00428-013-1470-9. [Epub ahead of print] PMID: 23963522
Tanskanen T, Gylfe AE, Katainen R, Taipale M, Renkonen-Sinisalo L, Mecklin JP, Järvinen H, Tuupanen S, Kilpivaara O, Vahteristo P, Aaltonen LA
Scand J Gastroenterol 2013 Jun;48(6):672-8. Epub 2013 Apr 2 doi: 10.3109/00365521.2013.783102. [Epub ahead of print] PMID: 23544471
Therkildsen C, Jönsson G, Dominguez-Valentin M, Nissen A, Rambech E, Halvarsson B, Bernstein I, Borg K, Nilbert M
Eur J Cancer 2013 Apr;49(6):1226-35. Epub 2012 Dec 11 doi: 10.1016/j.ejca.2012.11.011. [Epub ahead of print] PMID: 23245329

Therapy

Liljegren A, Barker G, Elliott F, Bertario L, Bisgaard ML, Eccles D, Evans G, Macrae F, Maher E, Lindblom A, Rotstein S, Nilsson B, Mecklin JP, Möslein G, Jass J, Fodde R, Mathers J, Burn J, Bishop DT
J Clin Oncol 2008 Jul 10;26(20):3434-9. doi: 10.1200/JCO.2007.13.2795. PMID: 18612159Free PMC Article
Nagasaka T, Koi M, Kloor M, Gebert J, Vilkin A, Nishida N, Shin SK, Sasamoto H, Tanaka N, Matsubara N, Boland CR, Goel A
Gastroenterology 2008 Jun;134(7):1950-60, 1960.e1. Epub 2008 Mar 8 doi: 10.1053/j.gastro.2008.02.094. [Epub ahead of print] PMID: 18435933Free PMC Article
Carter J, Pather S
Expert Rev Anticancer Ther 2006 Jan;6(1):33-42. doi: 10.1586/14737140.6.1.33. PMID: 16375642
Thomas G
Curr Opin Oncol 1994 Jul;6(4):406-12. PMID: 7803543

Prognosis

Toon CW, Chou A, DeSilva K, Chan J, Patterson J, Clarkson A, Sioson L, Jankova L, Gill AJ
Mod Pathol 2014 May;27(5):644-50. Epub 2013 Oct 25 doi: 10.1038/modpathol.2013.200. [Epub ahead of print] PMID: 24157612Free PMC Article
Graves KD, Sinicrope PS, Esplen MJ, Peterson SK, Patten CA, Lowery J, Sinicrope FA, Nigon SK, Borgen J, Gorin SS, Keogh LA, Lindor NM; Behavioral Working Group of the Colon Cancer Family Registry
Genet Med 2014 Apr;16(4):294-301. Epub 2013 Oct 3 doi: 10.1038/gim.2013.137. [Epub ahead of print] PMID: 24091800Free PMC Article
Yusup A, Wang HJ, Rahmutula A, Sayim P, Zhao ZL, Zhang GQ
World J Gastroenterol 2013 Nov 7;19(41):7183-8. doi: 10.3748/wjg.v19.i41.7183. PMID: 24222964Free PMC Article
Shi Z, Johnstone D, Talseth-Palmer BA, Evans TJ, Spigelman AD, Groombridge C, Milward EA, Olynyk JK, Suchy J, Kurzawski G, Lubinski J, Scott RJ
Int J Cancer 2009 Jul 1;125(1):78-83. doi: 10.1002/ijc.24304. PMID: 19291797
Cai SJ, Xu Y, Cai GX, Lian P, Guan ZQ, Mo SJ, Sun MH, Cai Q, Shi DR
World J Gastroenterol 2003 Feb;9(2):284-7. PMID: 12532449

Clinical prediction guides

Toon CW, Chou A, DeSilva K, Chan J, Patterson J, Clarkson A, Sioson L, Jankova L, Gill AJ
Mod Pathol 2014 May;27(5):644-50. Epub 2013 Oct 25 doi: 10.1038/modpathol.2013.200. [Epub ahead of print] PMID: 24157612Free PMC Article
Yusup A, Wang HJ, Rahmutula A, Sayim P, Zhao ZL, Zhang GQ
World J Gastroenterol 2013 Nov 7;19(41):7183-8. doi: 10.3748/wjg.v19.i41.7183. PMID: 24222964Free PMC Article
Warden G, Harnett D, Green J, Wish T, Woods MO, Green R, Dicks E, Rahman P, Zhai G, Parfrey P
Clin Genet 2013 Dec;84(6):522-30. Epub 2013 Feb 7 doi: 10.1111/cge.12080. [Epub ahead of print] PMID: 23278430
Shi Z, Johnstone D, Talseth-Palmer BA, Evans TJ, Spigelman AD, Groombridge C, Milward EA, Olynyk JK, Suchy J, Kurzawski G, Lubinski J, Scott RJ
Int J Cancer 2009 Jul 1;125(1):78-83. doi: 10.1002/ijc.24304. PMID: 19291797
Valle L, Perea J, Carbonell P, Fernandez V, Dotor AM, Benitez J, Urioste M
J Clin Oncol 2007 Mar 1;25(7):781-6. Epub 2007 Jan 16 doi: 10.1200/JCO.2006.06.9781. [Epub ahead of print] PMID: 17228022

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