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Hereditary nonpolyposis colorectal carcinoma

MedGen UID:
870541
Concept ID:
C4024989
Neoplastic Process
HPO: HP:0006716

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVHereditary nonpolyposis colorectal carcinoma

Conditions with this feature

Colorectal cancer
MedGen UID:
83428
Concept ID:
C0346629
Neoplastic Process
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.
Lynch syndrome 5
MedGen UID:
318886
Concept ID:
C1833477
Disease or Syndrome
Lynch syndrome-5 (LYNCH5), or hereditary nonpolyposis colorectal cancer type 5 (HNPCC5), 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 general phenotypic description and a discussion of genetic heterogeneity of Lynch syndrome, see 120435.
Lynch syndrome 4
MedGen UID:
325005
Concept ID:
C1838333
Disease or Syndrome
Lynch syndrome-4 (LYNCH4), or hereditary nonpolyposis colorectal cancer type 4 (HNPCC4), is an autosomal dominant disorder characterized primarily by the development of early-onset colorectal cancer. It is associated with the development of a variety of epithelial tumors that include endometrial cancer, stomach cancer, and ovarian cancer (summary by Thompson et al., 2004).
Colorectal cancer, hereditary nonpolyposis, type 7
MedGen UID:
346893
Concept ID:
C1858380
Neoplastic Process
Any hereditary nonpolyposis colon cancer in which the cause of the disease is a mutation in the MLH3 gene.
Colorectal cancer, hereditary nonpolyposis, type 6
MedGen UID:
348732
Concept ID:
C1860896
Neoplastic Process
Any hereditary nonpolyposis colon cancer in which the cause of the disease is a mutation in the TGFBR2 gene.
Colorectal cancer, susceptibility to, 10
MedGen UID:
436445
Concept ID:
C2675481
Finding
Any colorectal cancer in which the cause of the disease is a mutation in the POLD1 gene.
Lynch syndrome 8
MedGen UID:
412966
Concept ID:
C2750471
Disease or 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.

Professional guidelines

PubMed

Rogowski W
Int J Technol Assess Health Care 2006 Summer;22(3):327-37. doi: 10.1017/s0266462306051221. PMID: 16984061
Hendriks YM, de Jong AE, Morreau H, Tops CM, Vasen HF, Wijnen JT, Breuning MH, Bröcker-Vriends AH
CA Cancer J Clin 2006 Jul-Aug;56(4):213-25. doi: 10.3322/canjclin.56.4.213. PMID: 16870997
Kouraklis G, Misiakos EP
Dig Dis Sci 2005 Feb;50(2):336-44. doi: 10.1007/s10620-005-1607-z. PMID: 15745097

Recent clinical studies

Etiology

Soslow RA
Semin Diagn Pathol 2010 Nov;27(4):261-73. doi: 10.1053/j.semdp.2010.09.003. PMID: 21309260
Hendriks YM, de Jong AE, Morreau H, Tops CM, Vasen HF, Wijnen JT, Breuning MH, Bröcker-Vriends AH
CA Cancer J Clin 2006 Jul-Aug;56(4):213-25. doi: 10.3322/canjclin.56.4.213. PMID: 16870997
Kouraklis G, Misiakos EP
Dig Dis Sci 2005 Feb;50(2):336-44. doi: 10.1007/s10620-005-1607-z. PMID: 15745097
D'Emilia JC, Rodriguez-Bigas MA, Petrelli NJ
Am J Surg 1995 Mar;169(3):368-72. doi: 10.1016/S0002-9610(99)80178-0. PMID: 7879846
Lynch PM
Ann Med 1994 Jun;26(3):221-8. doi: 10.3109/07853899409147894. PMID: 8074841

Diagnosis

Vellone VG, Paudice M, Varesco L
Minerva Ginecol 2016 Oct;68(5):579-86. Epub 2016 Mar 1 PMID: 26930387
Choi YJ, Jung SW, Um JW, Lee ES, Koo JS, Yim HJ, Lee SW, Choi JH
Korean J Gastroenterol 2011 Oct 25;58(4):217-20. doi: 10.4166/kjg.2011.58.4.217. PMID: 22042423
Shah SN, Hile SE, Eckert KA
Cancer Res 2010 Jan 15;70(2):431-5. Epub 2010 Jan 12 doi: 10.1158/0008-5472.CAN-09-3049. PMID: 20068152Free PMC Article
Kouraklis G, Misiakos EP
Dig Dis Sci 2005 Feb;50(2):336-44. doi: 10.1007/s10620-005-1607-z. PMID: 15745097
D'Emilia JC, Rodriguez-Bigas MA, Petrelli NJ
Am J Surg 1995 Mar;169(3):368-72. doi: 10.1016/S0002-9610(99)80178-0. PMID: 7879846

Therapy

Christensen M, Katballe N, Wikman F, Primdahl H, Sørensen FB, Laurberg S, Ørntoft TF
Cancer 2002 Dec 1;95(11):2422-30. doi: 10.1002/cncr.10979. PMID: 12436451
Sakao Y, Noro M, Sekine S, Nozue M, Hirohashi S, Itoh T, Noguchi M
Jpn J Cancer Res 1998 Oct;89(10):1020-7. doi: 10.1111/j.1349-7006.1998.tb00491.x. PMID: 9849580Free PMC Article
Mao L, Lee DJ, Tockman MS, Erozan YS, Askin F, Sidransky D
Proc Natl Acad Sci U S A 1994 Oct 11;91(21):9871-5. doi: 10.1073/pnas.91.21.9871. PMID: 7937908Free PMC Article

Prognosis

Kouraklis G, Misiakos EP
Dig Dis Sci 2005 Feb;50(2):336-44. doi: 10.1007/s10620-005-1607-z. PMID: 15745097
Lynch HT, Deters CA, Hogg D, Lynch JF, Kinarsky Y, Gatalica Z
Cancer 2003 Nov 1;98(9):1947-57. doi: 10.1002/cncr.11743. PMID: 14584079
Watson P, Lin KM, Rodriguez-Bigas MA, Smyrk T, Lemon S, Shashidharan M, Franklin B, Karr B, Thorson A, Lynch HT
Cancer 1998 Jul 15;83(2):259-66. PMID: 9669808
D'Emilia JC, Rodriguez-Bigas MA, Petrelli NJ
Am J Surg 1995 Mar;169(3):368-72. doi: 10.1016/S0002-9610(99)80178-0. PMID: 7879846
Mecklin JP, Järvinen HJ, Virolainen M
Cancer 1992 Mar 1;69(5):1112-4. doi: 10.1002/cncr.2820690508. PMID: 1310886

Clinical prediction guides

Lynch HT, Riley BD, Weissman SM, Coronel SM, Kinarsky Y, Lynch JF, Shaw TG, Rubinstein WS
Cancer 2004 Jan 1;100(1):53-64. doi: 10.1002/cncr.11912. PMID: 14692024
Furukawa T, Konishi F, Shitoh K, Kojima M, Nagai H, Tsukamoto T
Cancer 2002 Feb 15;94(4):911-20. PMID: 11920458
Kobayashi K, Sagae S, Kudo R, Saito H, Koi S, Nakamura Y
Genes Chromosomes Cancer 1995 Oct;14(2):128-32. doi: 10.1002/gcc.2870140207. PMID: 8527394
Ponz de Leon M
Ann Med 1994 Jun;26(3):209-14. doi: 10.3109/07853899409147892. PMID: 8074839
Aaltonen LA, Peltomäki P
Anticancer Res 1994 Jul-Aug;14(4B):1657-60. PMID: 7979203

Recent systematic reviews

Heshka JT, Palleschi C, Howley H, Wilson B, Wells PS
Genet Med 2008 Jan;10(1):19-32. doi: 10.1097/GIM.0b013e31815f524f. PMID: 18197053
Rogowski W
Int J Technol Assess Health Care 2006 Summer;22(3):327-37. doi: 10.1017/s0266462306051221. PMID: 16984061

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