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Hereditary nonpolyposis colon cancer(HNPCC)

MedGen UID:
232602
Concept ID:
C1333990
Neoplastic Process
Synonyms: Familial nonpolyposis colon cancer; Hereditary nonpolyposis colorectal cancer; Hereditary Nonpolyposis Colorectal Cancer Syndrome; HNPCC
SNOMED CT: HNPCC - hereditary nonpolyposis colorectal cancer (315058005); Hereditary nonpolyposis colon cancer (315058005); HNPCC - hereditary nonpolyposis colon cancer (315058005)
 
Monarch Initiative: MONDO:0018630
OMIM® Phenotypic series: PS120435
Orphanet: ORPHA443909

Definition

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, urinary tract, brain, and skin. Additionally, women with this disorder have a high risk of cancer of the ovaries and lining of the uterus (endometrial cancer). Women with Lynch syndrome have a higher overall risk of developing cancer than men with the condition because of these cancers of the female reproductive system. In individuals with Lynch syndrome who develop cancer, the cancer typically occurs in their forties or fifties.

People with Lynch syndrome may occasionally have noncancerous (benign) growths in the colon, called colon polyps. In individuals with this disorder, colon polyps occur at a younger age but not in greater numbers than they do in the general population. [from MedlinePlus Genetics]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVHereditary nonpolyposis colon cancer
Follow this link to review classifications for Hereditary nonpolyposis colon cancer in Orphanet.

Professional guidelines

PubMed

Trimble CL, Method M, Leitao M, Lu K, Ioffe O, Hampton M, Higgins R, Zaino R, Mutter GL; Society of Gynecologic Oncology Clinical Practice Committee
Obstet Gynecol 2012 Nov;120(5):1160-75. doi: 10.1097/aog.0b013e31826bb121. PMID: 23090535Free PMC Article
Bellacosa A, Genuardi M, Anti M, Viel A, Ponz de Leon M
Am J Med Genet 1996 Apr 24;62(4):353-64. doi: 10.1002/(SICI)1096-8628(19960424)62:4<353::AID-AJMG7>3.0.CO;2-S. PMID: 8723065
Sterm HS
Am J Surg 1996 Jan;171(1):10-5. doi: 10.1016/s0002-9610(99)80065-8. PMID: 8554121

Curated

NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) Colon Cancer, 2024

American College of Medical Genetics and Genomics, Genomic Testing (Secondary Findings) ACT Sheet, MLH1, MSH2, MSH6, PMS2, EPCAM Pathogenic Variants, Lynch Syndrome (Hereditary Non-polyposis Colon Cancer [HNPCC]), 2019

American College of Medical Genetics and Genomics Family History ACT Sheet, Colon Cancer (Asymptomatic), 2012

Recent clinical studies

Etiology

Plevová P
Klin Onkol 2019 Summer;32(Supplementum2):97-108. doi: 10.14735/amko2019S97. PMID: 31409085
Framp A
Gastroenterol Nurs 2010 Nov-Dec;33(6):400-5; quiz 406-7. doi: 10.1097/SGA.0b013e3182021b2a. PMID: 21150489
Bellacosa A, Genuardi M, Anti M, Viel A, Ponz de Leon M
Am J Med Genet 1996 Apr 24;62(4):353-64. doi: 10.1002/(SICI)1096-8628(19960424)62:4<353::AID-AJMG7>3.0.CO;2-S. PMID: 8723065
Gallion HH, Smith SA
Semin Surg Oncol 1994 Jul-Aug;10(4):249-54. doi: 10.1002/ssu.2980100404. PMID: 8091066
Fitzsimmons ML
Semin Oncol Nurs 1992 Nov;8(4):252-7. doi: 10.1016/0749-2081(92)90037-4. PMID: 1336211

Diagnosis

Matsuoka T, Yashiro M
Biomolecules 2023 Oct 19;13(10) doi: 10.3390/biom13101551. PMID: 37892233Free PMC Article
Duarte M, Milikowski C
Pathology 2022 Mar;54(2):157-166. Epub 2021 Nov 9 doi: 10.1016/j.pathol.2021.08.009. PMID: 34763900
Plevová P
Klin Onkol 2019 Summer;32(Supplementum2):97-108. doi: 10.14735/amko2019S97. PMID: 31409085
Chao EC, Velasquez JL, Witherspoon MS, Rozek LS, Peel D, Ng P, Gruber SB, Watson P, Rennert G, Anton-Culver H, Lynch H, Lipkin SM
Hum Mutat 2008 Jun;29(6):852-60. doi: 10.1002/humu.20735. PMID: 18383312
Choyke PL, Glenn GM, Walther MM, Zbar B, Linehan WM
Radiology 2003 Jan;226(1):33-46. doi: 10.1148/radiol.2261011296. PMID: 12511666

Therapy

Langley RE, Rothwell PM
Curr Opin Oncol 2014 Jul;26(4):441-7. doi: 10.1097/CCO.0000000000000098. PMID: 24840525
Carter J
Aust N Z J Obstet Gynaecol 2013 Dec;53(6):517-24. Epub 2013 Jul 6 doi: 10.1111/ajo.12109. PMID: 23829412
Martin SA, Lord CJ, Ashworth A
Clin Cancer Res 2010 Nov 1;16(21):5107-13. Epub 2010 Sep 7 doi: 10.1158/1078-0432.CCR-10-0821. PMID: 20823149
Nicolaides NC, Ebel W, Kline B, Chao Q, Routhier E, Sass PM, Grasso L
Ann N Y Acad Sci 2005 Nov;1059:86-96. doi: 10.1196/annals.1339.029. PMID: 16382047
Burke W, Petersen G, Lynch P, Botkin J, Daly M, Garber J, Kahn MJ, McTiernan A, Offit K, Thomson E, Varricchio C
JAMA 1997 Mar 19;277(11):915-9. PMID: 9062331

Prognosis

Matsuoka T, Yashiro M
Biomolecules 2023 Oct 19;13(10) doi: 10.3390/biom13101551. PMID: 37892233Free PMC Article
Langley RE, Rothwell PM
Curr Opin Oncol 2014 Jul;26(4):441-7. doi: 10.1097/CCO.0000000000000098. PMID: 24840525
Trimble CL, Method M, Leitao M, Lu K, Ioffe O, Hampton M, Higgins R, Zaino R, Mutter GL; Society of Gynecologic Oncology Clinical Practice Committee
Obstet Gynecol 2012 Nov;120(5):1160-75. doi: 10.1097/aog.0b013e31826bb121. PMID: 23090535Free PMC Article
Chao EC, Velasquez JL, Witherspoon MS, Rozek LS, Peel D, Ng P, Gruber SB, Watson P, Rennert G, Anton-Culver H, Lynch H, Lipkin SM
Hum Mutat 2008 Jun;29(6):852-60. doi: 10.1002/humu.20735. PMID: 18383312
Gallion HH, Smith SA
Semin Surg Oncol 1994 Jul-Aug;10(4):249-54. doi: 10.1002/ssu.2980100404. PMID: 8091066

Clinical prediction guides

Vietri MT, D'Elia G, Caliendo G, Albanese L, Signoriello G, Napoli C, Molinari AM
Genes (Basel) 2022 Feb 9;13(2) doi: 10.3390/genes13020321. PMID: 35205366Free PMC Article
Langley RE, Rothwell PM
Curr Opin Oncol 2014 Jul;26(4):441-7. doi: 10.1097/CCO.0000000000000098. PMID: 24840525
Trimble CL, Method M, Leitao M, Lu K, Ioffe O, Hampton M, Higgins R, Zaino R, Mutter GL; Society of Gynecologic Oncology Clinical Practice Committee
Obstet Gynecol 2012 Nov;120(5):1160-75. doi: 10.1097/aog.0b013e31826bb121. PMID: 23090535Free PMC Article
Chao EC, Velasquez JL, Witherspoon MS, Rozek LS, Peel D, Ng P, Gruber SB, Watson P, Rennert G, Anton-Culver H, Lynch H, Lipkin SM
Hum Mutat 2008 Jun;29(6):852-60. doi: 10.1002/humu.20735. PMID: 18383312
Heinen CD, Schmutte C, Fishel R
Cancer Biol Ther 2002 Sep-Oct;1(5):477-85. doi: 10.4161/cbt.1.5.160. PMID: 12496472

Recent systematic reviews

McLeod RS; Canadian Task Force on Preventive Health Care
Can J Gastroenterol 2001 Oct;15(10):647-60. doi: 10.1155/2001/284746. PMID: 11694901

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Curated

    • NCCN, 2024
      NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) Colon Cancer, 2024
    • ACMG ACT, 2019
      American College of Medical Genetics and Genomics, Genomic Testing (Secondary Findings) ACT Sheet, MLH1, MSH2, MSH6, PMS2, EPCAM Pathogenic Variants, Lynch Syndrome (Hereditary Non-polyposis Colon Cancer [HNPCC]), 2019
    • ACMG ACT, 2012
      American College of Medical Genetics and Genomics Family History ACT Sheet, Colon Cancer (Asymptomatic), 2012

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