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Hereditary nonpolyposis colorectal cancer type 5(HNPCC5)

MedGen UID:
318886
Concept ID:
C1833477
Neoplastic Process
Synonyms: HNPCC5
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Sources: HPO, OMIM, Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Autosomal dominant inheritance (HPO, OMIM, Orphanet)
 
Gene (location): MSH6 (2p16.3)
OMIM®: 614350

Definition

Hereditary nonpolyposis colorectal cancer type 5 is a cancer predisposition syndrome characterized by onset of colorectal cancer and/or extracolonic cancers, particularly endometrial cancer, usually in mid-adulthood. The disorder shows autosomal dominant inheritance with incomplete penetrance (summary by Castellsague et al., 2015). For a phenotypic description and a discussion of genetic heterogeneity of hereditary nonpolyposis colorectal cancer (HNPCC), see HNPCC1 (120435). [from OMIM]

Additional description

From GHR
Lynch syndrome, often called hereditary nonpolyposis colorectal cancer (HNPCC), is an inherited disorder that increases the risk of many types of cancer, particularly cancers of the colon (large intestine) and rectum, which are collectively referred to as colorectal cancer. People with Lynch syndrome also have an increased risk of cancers of the stomach, small intestine, liver, gallbladder ducts, upper urinary tract, brain, and skin. Additionally, women with this disorder have a high risk of cancer of the ovaries and lining of the uterus (the endometrium). People with Lynch syndrome may occasionally have noncancerous (benign) growths (polyps) in the colon, called colon polyps. In individuals with this disorder, colon polyps occur earlier but not in greater numbers than they do in the general population.  https://ghr.nlm.nih.gov/condition/lynch-syndrome

Clinical features

Endometrial carcinoma
MedGen UID:
96903
Concept ID:
C0476089
Neoplastic Process
A carcinoma of the endometrium, the mucous lining of the uterus.
MedGen UID:
429057
Concept ID:
CN005847

Professional guidelines

PubMed

ACMG Board of Directors.
Genet Med 2015 Jan;17(1):68-9. Epub 2014 Nov 13 doi: 10.1038/gim.2014.151. PMID: 25356965
Green RC, Berg JS, Grody WW, Kalia SS, Korf BR, Martin CL, McGuire AL, Nussbaum RL, O'Daniel JM, Ormond KE, Rehm HL, Watson MS, Williams MS, Biesecker LG; American College of Medical Genetics and Genomics.
Genet Med 2013 Jul;15(7):565-74. Epub 2013 Jun 20 doi: 10.1038/gim.2013.73. PMID: 23788249Free PMC Article

External

Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.

Recent clinical studies

Etiology

Poaty H, Aba Gandzion C, Soubeyran I, Gassaye D, Peko JF, Nkoua Bon JB, Gombé Mbalawa C
Bull Cancer 2017 Oct;104(10):831-839. Epub 2017 Oct 6 doi: 10.1016/j.bulcan.2017.08.005. PMID: 28988047
Reeves SG, Meldrum C, Groombridge C, Spigelman AD, Suchy J, Kurzawski G, Lubinski J, McElduff P, Scott RJ
Eur J Hum Genet 2009 May;17(5):629-35. Epub 2009 Jan 21 doi: 10.1038/ejhg.2008.239. PMID: 19156174Free PMC Article
Jones JS, Amos CI, Pande M, Gu X, Chen J, Campos IM, Wei Q, Rodriguez-Bigas M, Lynch PM, Frazier ML
Cancer Epidemiol Biomarkers Prev 2006 May;15(5):886-91. doi: 10.1158/1055-9965.EPI-05-0644. PMID: 16702365
Yuan Y, Ye J, Zheng S; International Collaborative Group.
Chin Med J (Engl) 2004 May;117(5):748-52. PMID: 15161546
Shia J, Ellis NA, Paty PB, Nash GM, Qin J, Offit K, Zhang XM, Markowitz AJ, Nafa K, Guillem JG, Wong WD, Gerald WL, Klimstra DS
Am J Surg Pathol 2003 Nov;27(11):1407-17. PMID: 14576473

Diagnosis

Reeves SG, Meldrum C, Groombridge C, Spigelman AD, Suchy J, Kurzawski G, Lubinski J, McElduff P, Scott RJ
Eur J Hum Genet 2009 May;17(5):629-35. Epub 2009 Jan 21 doi: 10.1038/ejhg.2008.239. PMID: 19156174Free PMC Article
Pastrello C, Baglioni S, Tibiletti MG, Papi L, Fornasarig M, Morabito A, Agostini M, Genuardi M, Viel A
Eur J Hum Genet 2006 Jan;14(1):63-8. doi: 10.1038/sj.ejhg.5201517. PMID: 16251890
Halvarsson B, Lindblom A, Johansson L, Lagerstedt K, Nilbert M
Mod Pathol 2005 Aug;18(8):1095-101. doi: 10.1038/modpathol.3800392. PMID: 15731775
Yuan Y, Ye J, Zheng S; International Collaborative Group.
Chin Med J (Engl) 2004 May;117(5):748-52. PMID: 15161546
Shia J, Ellis NA, Paty PB, Nash GM, Qin J, Offit K, Zhang XM, Markowitz AJ, Nafa K, Guillem JG, Wong WD, Gerald WL, Klimstra DS
Am J Surg Pathol 2003 Nov;27(11):1407-17. PMID: 14576473

Therapy

Xie M, Zhao F, Zou X, Jin S, Xiong S
Medicine (Baltimore) 2017 Oct;96(42):e8269. doi: 10.1097/MD.0000000000008269. PMID: 29049220Free PMC Article
Jain D, Chhoda A, Uribe J
J Gastrointest Cancer 2016 Dec;47(4):404-408. doi: 10.1007/s12029-016-9842-4. PMID: 27256336
Matsuda T, Parra-Blanco A, Saito Y, Sakamoto T, Nakajima T
Gastrointest Endosc Clin N Am 2010 Jul;20(3):487-96. doi: 10.1016/j.giec.2010.03.007. PMID: 20656246
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
Sakao Y, Noro M, Sekine S, Nozue M, Hirohashi S, Itoh T, Noguchi M
Jpn J Cancer Res 1998 Oct;89(10):1020-7. PMID: 9849580

Prognosis

Zeinalian M, Hashemzadeh-Chaleshtori M, Akbarpour MJ, Emami MH
Asian Pac J Cancer Prev 2015;16(11):4647-52. PMID: 26107218
Shia J
Semin Diagn Pathol 2015 Sep;32(5):352-61. Epub 2015 Feb 4 doi: 10.1053/j.semdp.2015.02.018. PMID: 25716099Free PMC Article
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. PMID: 24157612Free PMC Article
Shia J, Ellis NA, Paty PB, Nash GM, Qin J, Offit K, Zhang XM, Markowitz AJ, Nafa K, Guillem JG, Wong WD, Gerald WL, Klimstra DS
Am J Surg Pathol 2003 Nov;27(11):1407-17. PMID: 14576473
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: 12532449Free PMC Article

Clinical prediction guides

Reeves SG, Meldrum C, Groombridge C, Spigelman AD, Suchy J, Kurzawski G, Lubinski J, McElduff P, Scott RJ
Eur J Hum Genet 2009 May;17(5):629-35. Epub 2009 Jan 21 doi: 10.1038/ejhg.2008.239. PMID: 19156174Free PMC Article
Jones JS, Amos CI, Pande M, Gu X, Chen J, Campos IM, Wei Q, Rodriguez-Bigas M, Lynch PM, Frazier ML
Cancer Epidemiol Biomarkers Prev 2006 May;15(5):886-91. doi: 10.1158/1055-9965.EPI-05-0644. PMID: 16702365
Lage PA, Albuquerque C, Sousa RG, Cravo ML, Salazar M, Francisco I, Maia L, Claro I, Suspiro A, Rodrigues P, Raposo H, Fidalgo PA, Nobre-Leitão C
Cancer 2004 Jul 1;101(1):172-7. doi: 10.1002/cncr.20320. PMID: 15222003
Yuan Y, Ye J, Zheng S; International Collaborative Group.
Chin Med J (Engl) 2004 May;117(5):748-52. PMID: 15161546
Shia J, Ellis NA, Paty PB, Nash GM, Qin J, Offit K, Zhang XM, Markowitz AJ, Nafa K, Guillem JG, Wong WD, Gerald WL, Klimstra DS
Am J Surg Pathol 2003 Nov;27(11):1407-17. PMID: 14576473

Recent systematic reviews

Xie M, Zhao F, Zou X, Jin S, Xiong S
Medicine (Baltimore) 2017 Oct;96(42):e8269. doi: 10.1097/MD.0000000000008269. PMID: 29049220Free PMC Article
Sandoval JA, Fernandez-Pineda I, Malkan AD
J Pediatr Surg 2016 Apr;51(4):675-87. Epub 2016 Feb 3 doi: 10.1016/j.jpedsurg.2016.01.004. PMID: 26898681

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