KEGG DISEASE: Colorectal cancer

DISEASE: Colorectal cancer

Entry

H00020                      Disease

Name

Colorectal cancer

Subgroup

Familial adenomatous polyposis (FAP) [DS:H01025]
Hereditary nonpolyposis colorectal cancer (HNPCC) [DS:H02565]
Polymerase proofreading-associated polyposis (PPAP) [DS:H02568]

Supergrp

Solid tumor [DS:H02421]

Description

Colorectal cancer (CRC) is the second largest cause of cancer-related deaths in Western countries. CRC arises from the colorectal epithelium as a result of the accumulation of genetic alterations in defined oncogenes and tumour suppressor genes (TSG). Two major mechanisms of genomic instability have been identified in sporadic CRC progression. The first, known as chromosomal instability (CIN), results from a series of genetic changes that involve the activation of oncogenes such as K-ras and inactivation of TSG such as p53, DCC/Smad4, and APC. The second, known as microsatellite instability (MSI), results from inactivation of the DNA mismatch repair genes MLH1 and/or MSH2 by hypermethylation of their promoter, and secondary mutation of genes with coding microsatellites, such as transforming growth factor receptor II (TGF-RII) and BAX. Hereditary syndromes have germline mutations in specific genes (mutation in the tumour suppressor gene APC on chromosome 5q in FAP, mutated DNA mismatch repair genes in HNPCC).

Category

Cancer

Brite

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
        H00020  Colorectal cancer
       2B91  Malignant neoplasms of rectosigmoid junction
        H00020  Colorectal cancer
       2B92  Malignant neoplasms of rectum
        H00020  Colorectal cancer
Pathway-based classification of diseases [BR:br08402]
Replication and repair
  nt06503  Mismatch repair
   H00020  Colorectal cancer
Signal transduction
  nt06526  MAPK signaling
   H00020  Colorectal cancer
  nt06505  WNT signaling
   H00020  Colorectal cancer
  nt06507  TGFB signaling
   H00020  Colorectal cancer
Cellular process
  nt06515  Regulation of kinetochore-microtubule interactions
   H00020  Colorectal cancer
  nt06524  Apoptosis
   H00020  Colorectal cancer
  nt06546  IgSF CAM signaling
   H00020  Colorectal cancer
Tumor markers [br08442.html]
H00020
Cancer-associated carbohydrates [br08441.html]
H00020

Disease
pathway

hsa05210

Colorectal cancer

Pathway

hsa04310

Wnt signaling pathway

hsa04350

TGF-beta signaling pathway

hsa04210

Apoptosis

hsa04517

IGSF CAM signaling

Network

nt06260 Colorectal cancer
nt06503 Mismatch repair
nt06505 WNT signaling
nt06507 TGFB signaling
nt06515 Regulation of kinetochore-microtubule interactions
nt06524 Apoptosis
nt06546 IgSF CAM signaling

Gene

(HNPCC) MLH1 [HSA:4292] [KO:K08734]
(HNPCC) MLH3 [HSA:27030] [KO:K08739]
(HNPCC) MSH2 [HSA:4436] [KO:K08735]
(HNPCC) MSH6 [HSA:2956] [KO:K08737]
(HNPCC) TGFBR2 [HSA:7048] [KO:K04388]
(FAP) APC [HSA:324] [KO:K02085]
(FAP) MSH3 [HSA:4437] [KO:K08736]
(PPAP) POLD1 [HSA:5424] [KO:K02327]
(PPAP) POLE [HSA:5426] [KO:K02324]
DCC [HSA:1630] [KO:K06765]
KRAS [HSA:3845] [KO:K07827]
GALNT12 [HSA:79695] [KO:K00710]
SMAD7 [HSA:4092] [KO:K19631]
SMAD4 [HSA:4089] [KO:K04501]
SMAD2 [HSA:4087] [KO:K04500]
BAX [HSA:581] [KO:K02159]
AXIN2 [HSA:8313] [KO:K04385]
BRAF [HSA:673] [KO:K04365]
CCND1 [HSA:595] [KO:K04503]
CHEK2 [HSA:11200] [KO:K06641]
CTNNB1 [HSA:1499] [KO:K02105]
FLCN [HSA:201163] [KO:K09594]
PIK3CA [HSA:5290] [KO:K00922]
TP53 [HSA:7157] [KO:K04451]
BUB1 [HSA:699] [KO:K02178]
BUB1B [HSA:701] [KO:K06637]
AURKA [HSA:6790] [KO:K11481]
DLC1 [HSA:10395] [KO:K20632]
MCC [HSA:4163] [KO:K26734]
PTPN12 [HSA:5782] [KO:K18024]
AKT1 [HSA:207] [KO:K04456]
EP300 [HSA:2033] [KO:K04498]
FGFR3 [HSA:2261] [KO:K05094]
PDGFRL [HSA:5157] [KO:K25716]
PTPRJ [HSA:5795] [KO:K05698]
RAD54B [HSA:25788] [KO:K10877]
SRC [HSA:6714] [KO:K05704]
EGF (overexpression) [HSA:1950] [KO:K04357]
TGFA (overexpression) [HSA:7039] [KO:K08774]
EREG (overexpression) [HSA:2069] [KO:K09784]
AREG (overexpression) [HSA:374] [KO:K09782]

Drug

Capecitabine [DR:D01223]
Floxuridine [DR:D04197]
Trifluridine and tipiracil hydrochloride [DR:D10526]
Irinotecan hydrochloride [DR:D01061]
Encorafenib [DR:D11053] (BRAF mutation positive)
Fruquintinib [DR:D11977]
Regorafenib hydrate [DR:D10137]
Cetuximab [DR:D03455] (BRAF mutation positive)
Panitumumab [DR:D05350] (KRAS and NRAS wild type)
Nivolumab [DR:D10316] (MSI-H or dMMR)
Pembrolizumab [DR:D10574] (MSI-H)
Pembrolizumab and berahyaluronidase alfa [DR:D13168] (MSI-H or dMMR)
Bevacizumab [DR:D06409]
Ramucirumab [DR:D09371]
Ipilimumab [DR:D04603] (MSI-H or dMMR)
Oxaliplatin [DR:D01790]
Aflibercept [DR:D09574]
Adagrasib [DR:D12301] (KRAS G12C mutated)
Leucovorin calcium [DR:D01211]
Levoleucovorin calcium [DR:D04715]
Calcium levofolinate hydrate [DR:D11555]
Sodium levofolinate [DR:D11394]

Other DBs

ICD-11:

2B90 2B91 2B92

MeSH:

D015179

OMIM:

114500 608812 612229

Reference

PMID:11477132

Authors

Houlston RS.

Title

What we could do now: molecular pathology of colorectal cancer.

Journal

Mol Pathol 54:206-14 (2001)
DOI:10.1136/mp.54.4.206

Reference

PMID:12621137

Authors

Lynch HT, de la Chapelle A.

Title

Hereditary colorectal cancer.

Journal

N Engl J Med 348:919-32 (2003)
DOI:10.1056/NEJMra012242

Reference

PMID:15000146 (TP53, APC, MSH3, MSH6, CTNNB1, KRAS, TGFBR2, BAX)

Authors

Grady WM.

Title

Genomic instability and colon cancer.

Journal

Cancer Metastasis Rev 23:11-27 (2004)
DOI:10.1023/A:1025861527711

Reference

PMID:16555243 (DCC, SMAD2/4, TP53, APC, MLH1, MSH2, MSH6, CTNNB1, KRAS, TGFBR2, BAX)

Authors

Soreide K, Janssen EA, Soiland H, Korner H, Baak JP.

Title

Microsatellite instability in colorectal cancer.

Journal

Br J Surg 93:395-406 (2006)
DOI:10.1002/bjs.5328

Reference

PMID:15310786 (DCC)

Authors

Mehlen P, Fearon ER.

Title

Role of the dependence receptor DCC in colorectal cancer pathogenesis.

Journal

J Clin Oncol 22:3420-8 (2004)
DOI:10.1200/JCO.2004.02.019

Reference

PMID:19617566 (GALNT12)

Authors

Guda K, Moinova H, He J, Jamison O, Ravi L, Natale L, Lutterbaugh J, Lawrence E, Lewis S, Willson JK, Lowe JB, Wiesner GL, Parmigiani G, Barnholtz-Sloan J, Dawson DW, Velculescu VE, Kinzler KW, Papadopoulos N, Vogelstein B, Willis J, Gerken TA, Markowitz SD

Title

Inactivating germ-line and somatic mutations in polypeptide N-acetylgalactosaminyltransferase 12 in human colon cancers.

Journal

Proc Natl Acad Sci U S A 106:12921-5 (2009)
DOI:10.1073/pnas.0901454106

Reference

PMID:17934461 (SNAD7)

Authors

Broderick P, Carvajal-Carmona L, Pittman AM, Webb E, Howarth K, Rowan A, Lubbe S, Spain S, Sullivan K, Fielding S, Jaeger E, Vijayakrishnan J, Kemp Z, Gorman M, Chandler I, Papaemmanuil E, Penegar S, Wood W, Sellick G, Qureshi M, Teixeira A, Domingo E, Barclay E, Martin L, Sieber O, Kerr D, Gray R, Peto J, Cazier JB, Tomlinson I, Houlston RS

Title

A genome-wide association study shows that common alleles of SMAD7 influence colorectal cancer risk.

Journal

Nat Genet 39:1315-7 (2007)
DOI:10.1038/ng.2007.18

Reference

PMID:26133394 (POLE, POLD1)

Authors

Bellido F, Pineda M, Aiza G, Valdes-Mas R, Navarro M, Puente DA, Pons T, Gonzalez S, Iglesias S, Darder E, Pinol V, Soto JL, Valencia A, Blanco I, Urioste M, Brunet J, Lazaro C, Capella G, Puente XS, Valle L

Title

POLE and POLD1 mutations in 529 kindred with familial colorectal cancer and/or polyposis: review of reported cases and recommendations for genetic testing and surveillance.

Journal

Genet Med 18:325-32 (2016)
DOI:10.1038/gim.2015.75

Reference

PMID:7912978

Authors

Hayashi Y, Widjono YW, Ohta K, Hanioka K, Obayashi C, Itoh K, Imai Y, Itoh H

Title

Expression of EGF, EGF-receptor, p53, v-erb B and ras p21 in colorectal neoplasms by immunostaining paraffin-embedded tissues.

Journal

Pathol Int 44:124-30 (1994)
DOI:10.1111/j.1440-1827.1994.tb01696.x

Reference

PMID:11017067 (AXIN2)

Authors

Liu W, Dong X, Mai M, Seelan RS, Taniguchi K, Krishnadath KK, Halling KC, Cunningham JM, Boardman LA, Qian C, Christensen E, Schmidt SS, Roche PC, Smith DI, Thibodeau SN

Title

Mutations in AXIN2 cause colorectal cancer with defective mismatch repair by activating beta-catenin/TCF signalling.

Journal

Nat Genet 26:146-7 (2000)
DOI:10.1038/79859

Reference

PMID:12198537 (BRAF, KRAS)

Authors

Rajagopalan H, Bardelli A, Lengauer C, Kinzler KW, Vogelstein B, Velculescu VE

Title

Tumorigenesis: RAF/RAS oncogenes and mismatch-repair status.

Journal

Nature 418:934 (2002)
DOI:10.1038/418934a

Reference

PMID:10667569 (CCND1)

Authors

Kong S, Amos CI, Luthra R, Lynch PM, Levin B, Frazier ML

Title

Effects of cyclin D1 polymorphism on age of onset of hereditary nonpolyposis colorectal cancer.

Journal

Cancer Res 60:249-52 (2000)

Reference

PMID:12690581 (CHEK2)

Authors

Meijers-Heijboer H, Wijnen J, Vasen H, Wasielewski M, Wagner A, Hollestelle A, Elstrodt F, van den Bos R, de Snoo A, Fat GT, Brekelmans C, Jagmohan S, Franken P, Verkuijlen P, van den Ouweland A, Chapman P, Tops C, Moslein G, Burn J, Lynch H, Klijn J, Fodde R, Schutte M

Title

The CHEK2 1100delC mutation identifies families with a hereditary breast and colorectal cancer phenotype.

Journal

Am J Hum Genet 72:1308-14 (2003)
DOI:10.1086/375121

Reference

PMID:12843323 (FLCN)

Authors

Kahnoski K, Khoo SK, Nassif NT, Chen J, Lobo GP, Segelov E, Teh BT

Title

Alterations of the Birt-Hogg-Dube gene (BHD) in sporadic colorectal tumours.

Journal

J Med Genet 40:511-5 (2003)
DOI:10.1136/jmg.40.7.511

Reference

PMID:11317354 (MLH3)

Authors

Lipkin SM, Wang V, Stoler DL, Anderson GR, Kirsch I, Hadley D, Lynch HT, Collins FS

Title

Germline and somatic mutation analyses in the DNA mismatch repair gene MLH3: Evidence for somatic mutation in colorectal cancers.

Journal

Hum Mutat 17:389-96 (2001)
DOI:10.1002/humu.1114

Reference

PMID:15016963 (PIK3CA)

Authors

Samuels Y, Wang Z, Bardelli A, Silliman N, Ptak J, Szabo S, Yan H, Gazdar A, Powell SM, Riggins GJ, Willson JK, Markowitz S, Kinzler KW, Vogelstein B, Velculescu VE

Title

High frequency of mutations of the PIK3CA gene in human cancers.

Journal

Science 304:554 (2004)
DOI:10.1126/science.1096502

Reference

PMID:21139621 (EGF, TGFA, EREG, AREG)

Authors

Di Fiore F, Sesboue R, Michel P, Sabourin JC, Frebourg T

Title

Molecular determinants of anti-EGFR sensitivity and resistance in metastatic colorectal cancer.

Journal

Br J Cancer 103:1765-72 (2010)
DOI:10.1038/sj.bjc.6606008

Reference

PMID:9521327 (BUB1, BUB1B)

Authors

Cahill DP, Lengauer C, Yu J, Riggins GJ, Willson JK, Markowitz SD, Kinzler KW, Vogelstein B

Title

Mutations of mitotic checkpoint genes in human cancers.

Journal

Nature 392:300-3 (1998)
DOI:10.1038/32688

Reference

PMID:12881723 (AURKA)

Authors

Ewart-Toland A, Briassouli P, de Koning JP, Mao JH, Yuan J, Chan F, MacCarthy-Morrogh L, Ponder BA, Nagase H, Burn J, Ball S, Almeida M, Linardopoulos S, Balmain A

Title

Identification of Stk6/STK15 as a candidate low-penetrance tumor-susceptibility gene in mouse and human.

Journal

Nat Genet 34:403-12 (2003)
DOI:10.1038/ng1220

Reference

PMID:10649492 (DLC1)

Authors

Wilson PJ, McGlinn E, Marsh A, Evans T, Arnold J, Wright K, Biden K, Young J, Wainwright B, Wicking C, Chenevix-Trench G

Title

Sequence variants of DLC1 in colorectal and ovarian tumours.

Journal

Hum Mutat 15:156-65 (2000)
DOI:10.1002/(SICI)1098-1004(200002)15:2<156::AID-HUMU4>3.0.CO;2-4

Reference

PMID:1848370 (MCC)

Authors

Kinzler KW, Nilbert MC, Vogelstein B, Bryan TM, Levy DB, Smith KJ, Preisinger AC, Hamilton SR, Hedge P, Markham A, et al.

Title

Identification of a gene located at chromosome 5q21 that is mutated in colorectal cancers.

Journal

Science 251:1366-70 (1991)
DOI:10.1126/science.1848370

Reference

PMID:7509295 (PTPN12)

Authors

Takekawa M, Itoh F, Hinoda Y, Adachi M, Ariyama T, Inazawa J, Imai K, Yachi A

Title

Chromosomal localization of the protein tyrosine phosphatase G1 gene and characterization of the aberrant transcripts in human colon cancer cells.

Journal

FEBS Lett 339:222-8 (1994)
DOI:10.1016/0014-5793(94)80420-6

Reference

PMID:30731403 (PTPN12)

Authors

Shen N, Li L, Xu W, Tian J, Yang Y, Zhu Y, Gong Y, Ke J, Gong J, Chang J, Zhong R, Miao X

Title

A missense variant in PTPN12 associated with the risk of colorectal cancer by modifying Ras/MEK/ERK signaling.

Journal

Cancer Epidemiol 59:109-114 (2019)
DOI:10.1016/j.canep.2019.01.013

Reference

PMID:17611497 (AKT1)

Authors

Carpten JD, Faber AL, Horn C, Donoho GP, Briggs SL, Robbins CM, Hostetter G, Boguslawski S, Moses TY, Savage S, Uhlik M, Lin A, Du J, Qian YW, Zeckner DJ, Tucker-Kellogg G, Touchman J, Patel K, Mousses S, Bittner M, Schevitz R, Lai MH, Blanchard KL, Thomas JE

Title

A transforming mutation in the pleckstrin homology domain of AKT1 in cancer.

Journal

Nature 448:439-44 (2007)
DOI:10.1038/nature05933

Reference

PMID:10700188 (EP300)

Authors

Gayther SA, Batley SJ, Linger L, Bannister A, Thorpe K, Chin SF, Daigo Y, Russell P, Wilson A, Sowter HM, Delhanty JD, Ponder BA, Kouzarides T, Caldas C

Title

Mutations truncating the EP300 acetylase in human cancers.

Journal

Nat Genet 24:300-3 (2000)
DOI:10.1038/73536

Reference

PMID:11325814 (FGFR3)

Authors

Jang JH, Shin KH, Park JG

Title

Mutations in fibroblast growth factor receptor 2 and fibroblast growth factor receptor 3 genes associated with human gastric and colorectal cancers.

Journal

Cancer Res 61:3541-3 (2001)

Reference

PMID:7519877 (PDGFRL)

Authors

Fujiwara Y, Ohata H, Emi M, Okui K, Koyama K, Tsuchiya E, Nakajima T, Monden M, Mori T, Kurimasa A, et al.

Title

A 3-Mb physical map of the chromosome region 8p21.3-p22, including a 600-kb region commonly deleted in human hepatocellular carcinoma, colorectal cancer, and non-small cell lung cancer.

Journal

Genes Chromosomes Cancer 10:7-14 (1994)
DOI:10.1002/gcc.2870100103

Reference

PMID:12089527 (PTPRJ)

Authors

Ruivenkamp CA, van Wezel T, Zanon C, Stassen AP, Vlcek C, Csikos T, Klous AM, Tripodis N, Perrakis A, Boerrigter L, Groot PC, Lindeman J, Mooi WJ, Meijjer GA, Scholten G, Dauwerse H, Paces V, van Zandwijk N, van Ommen GJ, Demant P

Title

Ptprj is a candidate for the mouse colon-cancer susceptibility locus Scc1 and is frequently deleted in human cancers.

Journal

Nat Genet 31:295-300 (2002)
DOI:10.1038/ng903

Reference

PMID:10362364 (RAD54B)

Authors

Hiramoto T, Nakanishi T, Sumiyoshi T, Fukuda T, Matsuura S, Tauchi H, Komatsu K, Shibasaki Y, Inui H, Watatani M, Yasutomi M, Sumii K, Kajiyama G, Kamada N, Miyagawa K, Kamiya K

Title

Mutations of a novel human RAD54 homologue, RAD54B, in primary cancer.

Journal

Oncogene 18:3422-6 (1999)
DOI:10.1038/sj.onc.1202691

Reference

PMID:9988270 (SRC)

Authors

Irby RB, Mao W, Coppola D, Kang J, Loubeau JM, Trudeau W, Karl R, Fujita DJ, Jove R, Yeatman TJ

Title

Activating SRC mutation in a subset of advanced human colon cancers.

Journal

Nat Genet 21:187-90 (1999)
DOI:10.1038/5971

LinkDB

» Japanese version

DISEASE: Hepatocellular carcinoma

Entry

H00048                      Disease

Name

Hepatocellular carcinoma;
Liver cancer

Description

Hepatocellular carcinoma (HCC) is a major type of primary liver cancer and one of the rare human neoplasms etiologically linked to viral factors. It has been shown that, after HBV/HCV infection and alcohol or aflatoxin B1 exposure, genetic and epigenetic changes occur. The recurrent mutated genes were found to be highly enriched in multiple key driver signaling processes, including telomere maintenance, TP53, cell cycle regulation, the Wnt/beta-catenin pathway (CTNNB1 and AXIN1), the phosphatidylinositol-3 kinase (PI3K)/AKT/mammalian target of rapamycin (mTOR) pathway. Recent studies using whole-exome sequencing have revealed recurrent mutations in new driver genes involved in the chromatin remodelling (ARID1A and ARID2) and the oxidative stress (NFE2L2) pathways.

Category

Cancer

Brite

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
     2C12  Malignant neoplasms of liver or intrahepatic bile ducts
      H00048  Hepatocellular carcinoma
Pathway-based classification of diseases [BR:br08402]
Signal transduction
  nt06526  MAPK signaling
   H00048  Hepatocellular carcinoma
  nt06505  WNT signaling
   H00048  Hepatocellular carcinoma
  nt06507  TGFB signaling
   H00048  Hepatocellular carcinoma
  nt06518  JAK-STAT signaling
   H00048  Hepatocellular carcinoma
  nt06516  TNF signaling
   H00048  Hepatocellular carcinoma
  nt06528  Calcium signaling
   H00048  Hepatocellular carcinoma
Cellular process
  nt06524  Apoptosis
   H00048  Hepatocellular carcinoma
Immune system
  nt06517  TLR signaling
   H00048  Hepatocellular carcinoma
  nt06521  NLR signaling
   H00048  Hepatocellular carcinoma
  nt06519  RLR signaling
   H00048  Hepatocellular carcinoma
Tumor markers [br08442.html]
H00048
Cancer-associated carbohydrates [br08441.html]
H00048

Disease
pathway

hsa05225

Hepatocellular carcinoma

Pathway

hsa04310

Wnt signaling pathway

hsa04020

Calcium signaling pathway

hsa04151

PI3K-Akt signaling pathway

Network

nt06162 Hepatitis B virus (HBV)
nt06163 Hepatitis C virus (HCV)
nt06263 Hepatocellular carcinoma
nt06505 WNT signaling
nt06507 TGFB signaling
nt06516 TNF signaling
nt06517 TLR signaling
nt06518 JAK-STAT signaling
nt06519 RLR signaling
nt06521 NLR signaling
nt06524 Apoptosis
nt06528 Calcium signaling

Gene

TGFA (overexpression) [HSA:7039] [KO:K08774]
IGF2 (overexpression) [HSA:3481] [KO:K13769]
IGF1R (overexpression) [HSA:3480] [KO:K05087]
TERT (overexpression) [HSA:7015] [KO:K11126]
FZD7 (overexpression) [HSA:8324] [KO:K02432]
HGF (overexpression) [HSA:3082] [KO:K05460]
MET (mutation, overexpression) [HSA:4233] [KO:K05099]
MYC (amplification) [HSA:4609] [KO:K04377]
RB1 (loss) [HSA:5925] [KO:K06618]
CDKN2A (deletion) [HSA:1029] [KO:K06621]
TGFBR2 (reduced expression) [HSA:7048] [KO:K04388]
TP53 [HSA:7157] [KO:K04451]
PTEN [HSA:5728] [KO:K01110]
CTNNB1 [HSA:1499] [KO:K02105]
AXIN1 [HSA:8312] [KO:K02157]
KEAP1 [HSA:9817] [KO:K10456]
NFE2L2 [HSA:4780] [KO:K05638]
PIK3CA [HSA:5290] [KO:K00922]
ARID1A [HSA:8289] [KO:K11653]
ARID2 [HSA:196528] [KO:K11765]
CASP8 [HSA:841] [KO:K04398]
IGF2R [HSA:3482] [KO:K06564]

Pathogen

Hepatitis B virus [GN:T40004]
Hepatitis C virus [GN:T40066]

Drug

Sorafenib tosylate [DR:D06272]
Regorafenib hydrate [DR:D10137]
Cabozantinib s-malate [DR:D10095]
Lenvatinib mesylate [DR:D09920]
Nivolumab [DR:D10316]
Pembrolizumab [DR:D10574]
Pembrolizumab and berahyaluronidase alfa [DR:D13168]
Durvalumab [DR:D10808]
Atezolizumab [DR:D10773]
Bevacizumab [DR:D06409]
Ramucirumab [DR:D09371]
Ipilimumab [DR:D04603]
Tremelimumab [DR:D06657]

Other DBs

ICD-11:

2C12.0

MeSH:

D006528

OMIM:

114550

Reference

PMID:21829020

Authors

Kudo M

Title

Signaling pathway and molecular-targeted therapy for hepatocellular carcinoma.

Journal

Dig Dis 29:289-302 (2011)
DOI:10.1159/000327562

Reference

PMID:27895396

Authors

Niu ZS, Niu XJ, Wang WH

Title

Genetic alterations in hepatocellular carcinoma: An update.

Journal

World J Gastroenterol 22:9069-9095 (2016)
DOI:10.3748/wjg.v22.i41.9069

Reference

PMID:16799620

Authors

Breuhahn K, Longerich T, Schirmacher P

Title

Dysregulation of growth factor signaling in human hepatocellular carcinoma.

Journal

Oncogene 25:3787-800 (2006)
DOI:10.1038/sj.onc.1209556

Reference

PMID:20639898

Authors

Whittaker S, Marais R, Zhu AX

Title

The role of signaling pathways in the development and treatment of hepatocellular carcinoma.

Journal

Oncogene 29:4989-5005 (2010)
DOI:10.1038/onc.2010.236

Reference

PMID:19387255

Authors

Minguez B, Tovar V, Chiang D, Villanueva A, Llovet JM

Title

Pathogenesis of hepatocellular carcinoma and molecular therapies.

Journal

Curr Opin Gastroenterol 25:186-94 (2009)
DOI:10.1097/MOG.0b013e32832962a1

Reference

PMID:15085488

Authors

Suriawinata A, Xu R

Title

An update on the molecular genetics of hepatocellular carcinoma.

Journal

Semin Liver Dis 24:77-88 (2004)
DOI:10.1055/s-2004-823102

Reference

PMID:22922871

Authors

Huang J, Deng Q, Wang Q, Li KY, Dai JH, Li N, Zhu ZD, Zhou B, Liu XY, Liu RF, Fei QL, Chen H, Cai B, Zhou B, Xiao HS, Qin LX, Han ZG

Title

Exome sequencing of hepatitis B virus-associated hepatocellular carcinoma.

Journal

Nat Genet 44:1117-21 (2012)
DOI:10.1038/ng.2391

Reference

PMID:17295177

Authors

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Pathology and pathogenesis of hepatocellular carcinoma.

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Dig Dis 19:269-78 (2001)
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Thorgeirsson SS, Grisham JW.

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Molecular pathogenesis of human hepatocellular carcinoma.

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Nat Genet 31:339-46 (2002)
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PMID:21251164 (KEAP1, NFE2L2)

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Molecular mechanisms of the Keap1-Nrf2 pathway in stress response and cancer evolution.

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Genes Cells 16:123-40 (2011)
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PMID:22348534 (KEAP1, NFE2L2)

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Histopathology 60:943-52 (2012)
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Integrated analysis of somatic mutations and focal copy-number changes identifies key genes and pathways in hepatocellular carcinoma.

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Nat Genet 44:694-8 (2012)
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J Hepatocell Carcinoma 2:29-38 (2015)
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Nat Genet 11:447-9 (1995)
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LinkDB

» Japanese version

DISEASE: Endometrial cancer

Entry

H00026                      Disease

Name

Endometrial cancer

Description

Endometrial cancer (EC) is the most common gynaecological malignancy and the fourth most common malignancy in women in the developed world after breast, colorectal and lung cancer. Two types of endometrial carcinoma are distinguished with respect to biology and clinical course. Type-I carcinoma is related to hyperestrogenism by association with endometrial hyperplasia, frequent expression of estrogen and progesterone receptors and younger age, whereas type-II carcinoma is unrelated to estrogen, associated with atrophic endometrium, frequent lack of estrogen and progesterone receptors and older age. The morphologic differences in these cancers are mirrored in their molecular genetic profile with type I showing defects in DNA-mismatch repair and mutations in PTEN, K-ras, and beta-catenin, and type II showing aneuploidy, p53 mutations, and her2/neu amplification.