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Lynch syndrome

MedGen UID:
1633554
Concept ID:
C4552100
Disease or Syndrome
Synonym: Familial nonpolyposis colon cancer
SNOMED CT: Lynch syndrome (716318002)
 
Genes (locations): MLH1 (3p22.2); MSH2 (2p21-16.3); MSH6 (2p16.3); PMS2 (7p22.1)
 
Monarch Initiative: MONDO:0005835
OMIM® Phenotypic series: PS120435

Disease characteristics

Excerpted from the GeneReview: Lynch Syndrome
Lynch syndrome is characterized by an increased risk for colorectal cancer (CRC) and cancers of the endometrium, ovary, stomach, small bowel, urinary tract, biliary tract, brain (usually glioblastoma), skin (sebaceous adenomas, sebaceous carcinomas, and keratoacanthomas), pancreas, and prostate. Cancer risks and age of onset vary depending on the associated gene. Several other cancer types have been reported to occur in individuals with Lynch syndrome (e.g., breast, sarcomas, adrenocortical carcinoma). However, the data are not sufficient to demonstrate that the risk of developing these cancers is increased in individuals with Lynch syndrome. [from GeneReviews]
Authors:
Gregory Idos  |  Laura Valle   view full author information

Term Hierarchy

Professional guidelines

PubMed

Mork M, Hubosky SG, Rouprêt M, Margulis V, Raman J, Lotan Y, O'Brien T, You N, Shariat SF, Matin SF
J Urol 2015 Jul;194(1):21-9. Epub 2015 Feb 21 doi: 10.1016/j.juro.2015.02.081. PMID: 25711197
Syngal S, Brand RE, Church JM, Giardiello FM, Hampel HL, Burt RW; American College of Gastroenterology.
Am J Gastroenterol 2015 Feb;110(2):223-62; quiz 263. Epub 2015 Feb 3 doi: 10.1038/ajg.2014.435. PMID: 25645574Free PMC Article
Stoffel EM, Mangu PB, Gruber SB, Hamilton SR, Kalady MF, Lau MW, Lu KH, Roach N, Limburg PJ; American Society of Clinical Oncology.; European Society of Clinical Oncology.
J Clin Oncol 2015 Jan 10;33(2):209-17. Epub 2014 Dec 1 doi: 10.1200/JCO.2014.58.1322. PMID: 25452455Free PMC Article
ACMG Board of Directors.
Genet Med 2015 Jan;17(1):68-9. Epub 2014 Nov 13 doi: 10.1038/gim.2014.151. PMID: 25356965
Giardiello FM, Allen JI, Axilbund JE, Boland CR, Burke CA, Burt RW, Church JM, Dominitz JA, Johnson DA, Kaltenbach T, Levin TR, Lieberman DA, Robertson DJ, Syngal S, Rex DK
Am J Gastroenterol 2014 Aug;109(8):1159-79. Epub 2014 Jul 22 doi: 10.1038/ajg.2014.186. PMID: 25070057
Giardiello FM, Allen JI, Axilbund JE, Boland CR, Burke CA, Burt RW, Church JM, Dominitz JA, Johnson DA, Kaltenbach T, Levin TR, Lieberman DA, Robertson DJ, Syngal S, Rex DK
Dis Colon Rectum 2014 Aug;57(8):1025-48. doi: 10.1097/DCR.000000000000000. PMID: 25003300
Lu KH, Wood ME, Daniels M, Burke C, Ford J, Kauff ND, Kohlmann W, Lindor NM, Mulvey TM, Robinson L, Rubinstein WS, Stoffel EM, Snyder C, Syngal S, Merrill JK, Wollins DS, Hughes KS; American Society of Clinical Oncology.
J Clin Oncol 2014 Mar 10;32(8):833-40. Epub 2014 Feb 3 doi: 10.1200/JCO.2013.50.9257. PMID: 24493721Free PMC Article
Hegde M, Ferber M, Mao R, Samowitz W, Ganguly A; Working Group of the American College of Medical Genetics and Genomics (ACMG) Laboratory Quality Assurance Committee.
Genet Med 2014 Jan;16(1):101-16. Epub 2013 Dec 5 doi: 10.1038/gim.2013.166. PMID: 24310308
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
Menko FH, Aalfs CM, Henneman L, Stol Y, Wijdenes M, Otten E, Ploegmakers MM, Legemaate J, Smets EM, de Wert GM, Tibben A; Dutch Society for Clinical Genetics.
Fam Cancer 2013 Jun;12(2):319-24. doi: 10.1007/s10689-013-9636-9. PMID: 23535968
Vasen HF, Blanco I, Aktan-Collan K, Gopie JP, Alonso A, Aretz S, Bernstein I, Bertario L, Burn J, Capella G, Colas C, Engel C, Frayling IM, Genuardi M, Heinimann K, Hes FJ, Hodgson SV, Karagiannis JA, Lalloo F, Lindblom A, Mecklin JP, Møller P, Myrhoj T, Nagengast FM, Parc Y, Ponz de Leon M, Renkonen-Sinisalo L, Sampson JR, Stormorken A, Sijmons RH, Tejpar S, Thomas HJ, Rahner N, Wijnen JT, Järvinen HJ, Möslein G; Mallorca group.
Gut 2013 Jun;62(6):812-23. Epub 2013 Feb 13 doi: 10.1136/gutjnl-2012-304356. PMID: 23408351Free PMC Article
Canto MI, Harinck F, Hruban RH, Offerhaus GJ, Poley JW, Kamel I, Nio Y, Schulick RS, Bassi C, Kluijt I, Levy MJ, Chak A, Fockens P, Goggins M, Bruno M; International Cancer of Pancreas Screening (CAPS) Consortium.
Gut 2013 Mar;62(3):339-47. Epub 2012 Nov 7 doi: 10.1136/gutjnl-2012-303108. PMID: 23135763Free PMC Article
Evaluation of Genomic Applications in Practice and Prevention (EGAPP) Working Group.
Genet Med 2009 Jan;11(1):35-41. doi: 10.1097/GIM.0b013e31818fa2ff. PMID: 19125126Free PMC Article
Trepanier A, Ahrens M, McKinnon W, Peters J, Stopfer J, Grumet SC, Manley S, Culver JO, Acton R, Larsen-Haidle J, Correia LA, Bennett R, Pettersen B, Ferlita TD, Costalas JW, Hunt K, Donlon S, Skrzynia C, Farrell C, Callif-Daley F, Vockley CW; National Society of Genetic Counselors.
J Genet Couns 2004 Apr;13(2):83-114. doi: 10.1023/B:JOGC.0000018821.48330.77. PMID: 15604628
Church J, Lowry A, Simmang C; Standards Task Force.; American Society of Colon and Rectal Surgeons.
Dis Colon Rectum 2001 Oct;44(10):1404-12. doi: 10.1007/BF02234589. PMID: 11598466

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.

Society of Gynecologic Oncology (SGO) Clinical Practice Statement: Screening for Lynch Syndrome in Endometrial Cancer

Suggested Reading

Recent clinical studies

Etiology

Stinton C, Jordan M, Fraser H, Auguste P, Court R, Al-Khudairy L, Madan J, Grammatopoulos D, Taylor-Phillips S
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Diagnosis

Stinton C, Jordan M, Fraser H, Auguste P, Court R, Al-Khudairy L, Madan J, Grammatopoulos D, Taylor-Phillips S
Health Technol Assess 2021 Jun;25(42):1-216. doi: 10.3310/hta25420. PMID: 34169821Free PMC Article
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McKenna DB, Dudzik CM, Kumar S, Mahmud N, Katona BW
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Therapy

Stinton C, Jordan M, Fraser H, Auguste P, Court R, Al-Khudairy L, Madan J, Grammatopoulos D, Taylor-Phillips S
Health Technol Assess 2021 Jun;25(42):1-216. doi: 10.3310/hta25420. PMID: 34169821Free PMC Article
Sun P, Shen Y, Wang T, He Y, Zhang Y, Tian W, Yang B, Hu Y
Cancer Epidemiol 2021 Aug;73:101934. Epub 2021 May 14 doi: 10.1016/j.canep.2021.101934. PMID: 34000661
Morrow A, Tucker KM, Shaw TJ, Parkinson B, Abraham C, Wolfenden L, Taylor N
BMJ Open 2020 Jun 15;10(6):e033552. doi: 10.1136/bmjopen-2019-033552. PMID: 32540886Free PMC Article
Burn J, Sheth H, Elliott F, Reed L, Macrae F, Mecklin JP, Möslein G, McRonald FE, Bertario L, Evans DG, Gerdes AM, Ho JWC, Lindblom A, Morrison PJ, Rashbass J, Ramesar R, Seppälä T, Thomas HJW, Pylvänäinen K, Borthwick GM, Mathers JC, Bishop DT; CAPP2 Investigators.
Lancet 2020 Jun 13;395(10240):1855-1863. doi: 10.1016/S0140-6736(20)30366-4. PMID: 32534647Free PMC Article
Kahn RM, Gordhandas S, Maddy BP, Baltich Nelson B, Askin G, Christos PJ, Caputo TA, Chapman-Davis E, Holcomb K, Frey MK
Cancer 2019 Sep 15;125(18):3172-3183. Epub 2019 May 31 doi: 10.1002/cncr.32203. PMID: 31150123

Prognosis

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Kastrinos F, Ingram MA, Silver ER, Oh A, Laszkowska M, Rustgi AK, Hur C
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Arch Gynecol Obstet 2021 Oct;304(4):975-984. Epub 2021 Mar 12 doi: 10.1007/s00404-021-06006-w. PMID: 33710393
Bogani G, Tibiletti MG, Ricci MT, Carnevali I, Liberale V, Paolini B, Milione M, Vitellaro M, Murgia F, Chiappa V, Ditto A, Ghezzi F, Raspagliesi F
Int J Gynecol Cancer 2020 Jan;30(1):56-61. Epub 2019 Nov 27 doi: 10.1136/ijgc-2019-000824. PMID: 31780564
Kahn RM, Gordhandas S, Maddy BP, Baltich Nelson B, Askin G, Christos PJ, Caputo TA, Chapman-Davis E, Holcomb K, Frey MK
Cancer 2019 Sep 15;125(18):3172-3183. Epub 2019 May 31 doi: 10.1002/cncr.32203. PMID: 31150123

Clinical prediction guides

Stinton C, Jordan M, Fraser H, Auguste P, Court R, Al-Khudairy L, Madan J, Grammatopoulos D, Taylor-Phillips S
Health Technol Assess 2021 Jun;25(42):1-216. doi: 10.3310/hta25420. PMID: 34169821Free PMC Article
T Danley K, Schmitz K, Ghai R, Sclamberg JS, Buckingham LE, Burgess K, Kuzel TM, Usha L
Oncologist 2021 Oct;26(10):811-817. Epub 2021 Jun 14 doi: 10.1002/onco.13832. PMID: 34018286Free PMC Article
Kastrinos F, Ingram MA, Silver ER, Oh A, Laszkowska M, Rustgi AK, Hur C
Gastroenterology 2021 Aug;161(2):453-462.e15. Epub 2021 Apr 9 doi: 10.1053/j.gastro.2021.04.010. PMID: 33839100
Pauly N, Baert T, Schmutzler R, du Bois A, Schneider S, Rhiem K, Schömig-Markiefka B, Siemanowski J, Heikaus S, Traut A, Heitz F, Prader S, Ehmann S, Harter P, Ataseven B
Arch Gynecol Obstet 2021 Oct;304(4):975-984. Epub 2021 Mar 12 doi: 10.1007/s00404-021-06006-w. PMID: 33710393
Jia S, Wu X, Zhang Y, Zhang M
Eur J Cancer Care (Engl) 2021 Mar;30(2):e13379. Epub 2020 Nov 27 doi: 10.1111/ecc.13379. PMID: 33247511

Recent systematic reviews

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Fam Cancer 2019 Oct;18(4):399-420. Epub 2019 Jun 24 doi: 10.1007/s10689-019-00135-7. PMID: 31236808Free PMC Article
Ryan NAJ, Blake D, Cabrera-Dandy M, Glaire MA, Evans DG, Crosbie EJ
Syst Rev 2018 Aug 16;7(1):121. doi: 10.1186/s13643-018-0792-8. PMID: 30115102Free PMC Article

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