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Hereditary nonpolyposis colorectal cancer type 8(HNPCC8)

MedGen UID:
412966
Concept ID:
C2750471
Neoplastic Process
Synonyms: HNPCC8
 
Gene (location): EPCAM (2p21)
OMIM®: 613244

Definition

Lynch syndrome, caused by a germline pathogenic variant in a mismatch repair gene and associated with tumors exhibiting microsatellite instability (MSI), is characterized by an increased risk for colon cancer and cancers of the endometrium, ovary, stomach, small intestine, hepatobiliary tract, urinary tract, brain, and skin. In individuals with Lynch syndrome the following life time risks for cancer are seen: 52%-82% for colorectal cancer (mean age at diagnosis 44-61 years); 25%-60% for endometrial cancer in women (mean age at diagnosis 48-62 years); 6% to 13% for gastric cancer (mean age at diagnosis 56 years); and 4%-12% for ovarian cancer (mean age at diagnosis 42.5 years; approximately 30% are diagnosed before age 40 years). The risk for other Lynch syndrome-related cancers is lower, though substantially increased over general population rates. [from GTR]

Additional descriptions

From GeneReviews
Lynch syndrome, caused by a germline pathogenic variant in a mismatch repair gene and associated with tumors exhibiting microsatellite instability (MSI), is characterized by an increased risk for colon cancer and cancers of the endometrium, ovary, stomach, small intestine, hepatobiliary tract, urinary tract, brain, and skin. In individuals with Lynch syndrome the following life time risks for cancer are seen: 52%-82% for colorectal cancer (mean age at diagnosis 44-61 years); 25%-60% for endometrial cancer in women (mean age at diagnosis 48-62 years); 6% to 13% for gastric cancer (mean age at diagnosis 56 years); and 4%-12% for ovarian cancer (mean age at diagnosis 42.5 years; approximately 30% are diagnosed before age 40 years). The risk for other Lynch syndrome-related cancers is lower, though substantially increased over general population rates.  https://www.ncbi.nlm.nih.gov/books/NBK1211
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

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

Medina-Arana V, Rahy-Martín A, Delgado-Plasencia L, Martínez-Riera A, León-Ayllón D, Rodríguez-Castellano D, Bravo-Gutiérrez A, Fernández-Peralta A, González-Aguilera JJ
Colorectal Dis 2016 Nov;18(11):O388-O396. doi: 10.1111/codi.13532. PMID: 27671100
Xicola RM, Bontu S, Doyle BJ, Rawson J, Garre P, Lee E, de la Hoya M, Bessa X, Clofent J, Bujanda L, Balaguer F, Castellví-Bel S, Alenda C, Jover R, Ruiz-Ponte C, Syngal S, Andreu M, Carracedo A, Castells A, Newcomb PA, Lindor N, Potter JD, Baron JA, Ellis NA, Caldes T, LLor X
Carcinogenesis 2016 Aug;37(8):751-8. Epub 2016 May 27 doi: 10.1093/carcin/bgw064. PMID: 27234654Free PMC Article
Capper D, Voigt A, Bozukova G, Ahadova A, Kickingereder P, von Deimling A, von Knebel Doeberitz M, Kloor M
Int J Cancer 2013 Oct 1;133(7):1624-30. Epub 2013 Apr 25 doi: 10.1002/ijc.28183. PMID: 23553055
Perea J, Justo I, Alvaro E, Lomas M, Tasende JD, Marín JC, Franco A, Colina F, Rodríguez Y, Martínez J, Robles L, Urioste M, Hidalgo M
Rev Esp Enferm Dig 2009 Aug;101(8):536-40. PMID: 19785492
Ollikainen M, Hannelius U, Lindgren CM, Abdel-Rahman WM, Kere J, Peltomäki P
Oncogene 2007 Jul 5;26(31):4541-9. Epub 2007 Jan 29 doi: 10.1038/sj.onc.1210236. PMID: 17260015

Diagnosis

Dominguez-Valentin M, Therkildsen C, Veerla S, Jönsson M, Bernstein I, Borg A, Nilbert M
PLoS One 2013;8(8):e71755. Epub 2013 Aug 12 doi: 10.1371/journal.pone.0071755. PMID: 23951239Free PMC Article
Jensen UB, Sunde L, Timshel S, Halvarsson B, Nissen A, Bernstein I, Nilbert M
Breast Cancer Res Treat 2010 Apr;120(3):777-82. Epub 2009 Jul 3 doi: 10.1007/s10549-009-0449-3. PMID: 19575290
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
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

Therapy

Jain D, Chhoda A, Uribe J
J Gastrointest Cancer 2016 Dec;47(4):404-408. doi: 10.1007/s12029-016-9842-4. PMID: 27256336
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
Tampellini M, Alabiso I, Sculli CM, Barberis M, Giachino D, Berruti A, Dogliotti L
J Chemother 2006 Aug;18(4):433-6. doi: 10.1179/joc.2006.18.4.433. PMID: 17024802

Prognosis

Zeinalian M, Hashemzadeh-Chaleshtori M, Akbarpour MJ, Emami MH
Asian Pac J Cancer Prev 2015;16(11):4647-52. PMID: 26107218
Orta L, Klimstra DS, Qin J, Mecca P, Tang LH, Busam KJ, Shia J
Am J Surg Pathol 2009 Jun;33(6):934-44. doi: 10.1097/PAS.0b013e318199edca. PMID: 19342947
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
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
Paoloni-Giacobino A, Rey-Berthod C, Couturier A, Antonarakis SE, Hutter P
Hum Genet 2002 Sep;111(3):284-9. Epub 2002 Aug 6 doi: 10.1007/s00439-002-0789-0. PMID: 12215842

Clinical prediction guides

Capper D, Voigt A, Bozukova G, Ahadova A, Kickingereder P, von Deimling A, von Knebel Doeberitz M, Kloor M
Int J Cancer 2013 Oct 1;133(7):1624-30. Epub 2013 Apr 25 doi: 10.1002/ijc.28183. PMID: 23553055
Jensen UB, Sunde L, Timshel S, Halvarsson B, Nissen A, Bernstein I, Nilbert M
Breast Cancer Res Treat 2010 Apr;120(3):777-82. Epub 2009 Jul 3 doi: 10.1007/s10549-009-0449-3. PMID: 19575290
Ollikainen M, Hannelius U, Lindgren CM, Abdel-Rahman WM, Kere J, Peltomäki P
Oncogene 2007 Jul 5;26(31):4541-9. Epub 2007 Jan 29 doi: 10.1038/sj.onc.1210236. PMID: 17260015
Paoloni-Giacobino A, Rey-Berthod C, Couturier A, Antonarakis SE, Hutter P
Hum Genet 2002 Sep;111(3):284-9. Epub 2002 Aug 6 doi: 10.1007/s00439-002-0789-0. PMID: 12215842
Shin KH, Park YJ, Park JG
Clin Cancer Res 2000 Feb;6(2):536-40. PMID: 10690536

Recent systematic reviews

Helder-Woolderink JM, Blok EA, Vasen HF, Hollema H, Mourits MJ, De Bock GH
Eur J Cancer 2016 Mar;55:65-73. Epub 2016 Jan 13 doi: 10.1016/j.ejca.2015.12.005. PMID: 26773421

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