Entry

H02565                      Disease

Name

Hereditary nonpolyposis colorectal cancer

Subgroup

Lynch syndrome
Muir-Torre syndrome [DS:H02566]

Supergrp

Colorectal cancer [DS:H00020]
Solid tumor [DS:H02421]
Mismatch repair deficiency [DS:H00876]

Description

Hereditary non-polyposis colorectal cancer (HNPCC) syndrome is characterized by inherited predisposition to early colorectal carcinoma and extracolonic epithelia-derived tumors most often located in the gastrointestinal and urogenital tracts. HNPCC is caused by familial mutations in some of the genes responsible for DNA mismatch repair.

Category

Cancer

Brite

Human diseases [BR:br08402]
Cancers
  Cancers of the digestive system
   H02565  Hereditary nonpolyposis colorectal cancer
Human diseases in ICD-11 classification [BR:br08403]
02 Neoplasms
  Malignant neoplasms, except primary neoplasms of lymphoid, haematopoietic, central nervous system or related tissues
   Malignant neoplasms, stated or presumed to be primary, of specified sites, except of lymphoid, haematopoietic, central nervous system or related tissues
    Malignant neoplasms of digestive organs
     Malignant neoplasms of intestine
      Malignant neoplasms of large intestine
       2B90  Malignant neoplasms of colon
        H02565  Hereditary nonpolyposis colorectal cancer

Related
pathway

hsa03430

Mismatch repair

hsa05210

Colorectal cancer

Network

nt06503 Mismatch repair

Gene

(HNPCC1) MSH2 [HSA:4436] [KO:K08735]
(HNPCC2) MLH1 [HSA:4292] [KO:K08734]
(HNPCC4) PMS2 [HSA:5395] [KO:K10858]
(HNPCC5) MSH6 [HSA:2956] [KO:K08737]
(HNPCC6) TGFBR2 [HSA:7048] [KO:K04388]
(HNPCC7) MLH3 [HSA:27030] [KO:K08739]
(HNPCC8) EPCAM [HSA:4072] [KO:K06737]

Other DBs

ICD-11:

2B90.Y

ICD-10:

C18.9

MeSH:

D003123

OMIM:

120435 609310 614337 614350 614331 614385 613244

Reference

PMID:18186571 (MSH2, MLH1)

Authors

Zhang CH, He YL, Wang FJ, Song W, Yuan XY, Yang DJ, Chen CQ, Cai SR, Zhan WH

Title

Detection of hMSH2 and hMLH1 mutations in Chinese hereditary non-polyposis colorectal cancer kindreds.

Journal

World J Gastroenterol 14:298-302 (2008)
DOI:10.3748/wjg.14.298

Reference

PMID:15887124 (PMS2)

Authors

Worthley DL, Walsh MD, Barker M, Ruszkiewicz A, Bennett G, Phillips K, Suthers G

Title

Familial mutations in PMS2 can cause autosomal dominant hereditary nonpolyposis colorectal cancer.

Journal

Gastroenterology 128:1431-6 (2005)
DOI:10.1053/j.gastro.2005.04.008

Reference

PMID:12920072 (MSH6)

Authors

Plaschke J, Ruschoff J, Schackert HK

Title

Genomic rearrangements of hMSH6 contribute to the genetic predisposition in suspected hereditary non-polyposis colorectal cancer syndrome.

Journal

J Med Genet 40:597-600 (2003)
DOI:10.1136/jmg.40.8.597

Reference

PMID:9590282 (TGFBR2)

Authors

Lu SL, Kawabata M, Imamura T, Akiyama Y, Nomizu T, Miyazono K, Yuasa Y

Title

HNPCC associated with germline mutation in the TGF-beta type II receptor gene.

Journal

Nat Genet 19:17-8 (1998)
DOI:10.1038/ng0598-17

Reference

PMID:11586295 (MLH3)

Authors

Wu Y, Berends MJ, Sijmons RH, Mensink RG, Verlind E, Kooi KA, van der Sluis T, Kempinga C, van dDer Zee AG, Hollema H, Buys CH, Kleibeuker JH, Hofstra RM

Title

A role for MLH3 in hereditary nonpolyposis colorectal cancer.

Journal

Nat Genet 29:137-8 (2001)
DOI:10.1038/ng1001-137

Reference

PMID:21769135 (EPCAM)

Authors

Lynch HT, Riegert-Johnson DL, Snyder C, Lynch JF, Hagenkord J, Boland CR, Rhees J, Thibodeau SN, Boardman LA, Davies J, Kuiper RP, Hoogerbrugge N, Ligtenberg MJ

Title

Lynch syndrome-associated extracolonic tumors are rare in two extended families with the same EPCAM deletion.

Journal

Am J Gastroenterol 106:1829-36 (2011)
DOI:10.1038/ajg.2011.203

DISEASE: Hereditary nonpolyposis colorectal cancer