KEGG   DISEASE: 結腸・直腸癌
エントリ  
H00020                                                             
名称    
結腸・直腸癌;
大腸癌
  下位グループ
Familial adenomatous polyposis [DS:H01025]
遺伝性非ポリポーシス大腸癌 (HNPCC) [DS:H02565]
ポリメラーゼ校正関連ポリポーシス (PPSP) [DS:H02568]
  上位グループ
固形腫瘍 [DS:H02421]
概要    
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).
カテゴリ  
がん
階層分類  
ヒト疾患 [BR:jp08402]
 がん
  消化器系のがん
   H00020  結腸・直腸癌
ICD-11 による疾患分類 [BR:jp08403]
 02 腫瘍
  悪性腫瘍, ただしリンパ, 造血, 中枢神経系または関連組織の原発腫瘍を除く
   悪性腫瘍, 原発性と確定または推定されるもの, 明示された部位のもの, ただしリンパ, 造血, 中枢神経系, 関連組織を除く
    消化器の悪性腫瘍
     腸の悪性腫瘍
      大腸の悪性腫瘍
       2B90  結腸の悪性腫瘍
        H00020  結腸・直腸癌
       2B91  直腸S状結腸移行部の悪性腫瘍
        H00020  結腸・直腸癌
       2B92  直腸の悪性腫瘍
        H00020  結腸・直腸癌
パスウェイ 
hsa05210  大腸癌
関連パスウェイ
hsa03430  Mismatch repair
hsa04310  Wnt signaling pathway
hsa05200  Pathways in cancer
hsa05206  MicroRNAs in cancer
ネットワーク
nt06260  Colorectal cancer
病因遺伝子 
(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]
EGF (overexpression) [HSA:1950] [KO:K04357]
TGFA (overexpression) [HSA:7039] [KO:K08774]
EREG (overexpression) [HSA:2069] [KO:K09784]
AREG (overexpression) [HSA:374] [KO:K09782]
発癌物質  
Mineral oils, untreated and mildly treated
X- and gamma-radiation
治療薬   
ホリナートカルシウム [DR:D01211]
レボホリナートカルシウム [DR:D04715]
シクロホスファミド水和物 [DR:D00287]
ニムスチン塩酸塩 [DR:D01059]
フルオロウラシル [DR:D00584]
テガフール [DR:D01244]
カペシタビン [DR:D01223]
ドキシフルリジン [DR:D01309]
シタラビン [DR:D00168]
テガフール・ウラシル [DR:D02131]
テガフール・ギメラシル・オテラシルカリウム [DR:D06399]
マイトマイシンC [DR:D00208]
ドキソルビシン塩酸塩 [DR:D01275]
イリノテカン塩酸塩水和物 [DR:D01061]
エンコラフェニブ [DR:D11053] (BRAF遺伝子変異陽性)
ビニメチニブ [DR:D10604] (BRAF遺伝子変異陽性)
レゴラフェニブ水和物 [DR:D10137]
トラスツズマブ [DR:D03257] (HER2陽性)
ペルツズマブ [DR:D05446] (HER2陽性)
セツキシマブ [DR:D03455] (RAS遺伝子野生型)
パニツムマブ [DR:D05350] (KRAS野生型)
ニボルマブ [DR:D10316] (MSI-High)
ペムブロリズマブ [DR:D10574] (MSI-High)
ベバシズマブ [DR:D06409]
ラムシルマブ [DR:D09371]
イピリムマブ [DR:D04603] (MSI-High)
オキサリプラチン [DR:D01790]
アフリベルセプトベータ [DR:D10819]
トリフルリジン・チピラシル塩酸塩 [DR:D10526]
リンク   
ICD-11: 2B90 2B91 2B92
ICD-10: C18 C19 C20
MeSH: D015179
OMIM: 114500 608812 612229
文献    
  著者
Houlston RS.
  タイトル
What we could do now: molecular pathology of colorectal cancer.
  雑誌
Mol Pathol 54:206-14 (2001)
DOI:10.1136/mp.54.4.206
文献    
  著者
Lynch HT, de la Chapelle A.
  タイトル
Hereditary colorectal cancer.
  雑誌
N Engl J Med 348:919-32 (2003)
DOI:10.1056/NEJMra012242
文献    
PMID:15000146 (TP53, APC, MSH3, MSH6, CTNNB1, KRAS, TGFBR2, BAX)
  著者
Grady WM.
  タイトル
Genomic instability and colon cancer.
  雑誌
Cancer Metastasis Rev 23:11-27 (2004)
DOI:10.1023/A:1025861527711
文献    
PMID:16555243 (DCC, SMAD2/4, TP53, APC, MLH1, MSH2, MSH6, CTNNB1, KRAS, TGFBR2, BAX)
  著者
Soreide K, Janssen EA, Soiland H, Korner H, Baak JP.
  タイトル
Microsatellite instability in colorectal cancer.
  雑誌
Br J Surg 93:395-406 (2006)
DOI:10.1002/bjs.5328
文献    
PMID:15310786 (DCC)
  著者
Mehlen P, Fearon ER.
  タイトル
Role of the dependence receptor DCC in colorectal cancer pathogenesis.
  雑誌
J Clin Oncol 22:3420-8 (2004)
DOI:10.1200/JCO.2004.02.019
文献    
PMID:19617566 (GALNT12)
  著者
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
  タイトル
Inactivating germ-line and somatic mutations in polypeptide N-acetylgalactosaminyltransferase 12 in human colon cancers.
  雑誌
Proc Natl Acad Sci U S A 106:12921-5 (2009)
DOI:10.1073/pnas.0901454106
文献    
PMID:17934461 (SNAD7)
  著者
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
  タイトル
A genome-wide association study shows that common alleles of SMAD7 influence colorectal cancer risk.
  雑誌
Nat Genet 39:1315-7 (2007)
DOI:10.1038/ng.2007.18
文献    
PMID:26133394 (POLE, POLD1)
  著者
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
  タイトル
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.
  雑誌
Genet Med 18:325-32 (2016)
DOI:10.1038/gim.2015.75
文献    
PMID:7912978
  著者
Hayashi Y, Widjono YW, Ohta K, Hanioka K, Obayashi C, Itoh K, Imai Y, Itoh H
  タイトル
Expression of EGF, EGF-receptor, p53, v-erb B and ras p21 in colorectal neoplasms by immunostaining paraffin-embedded tissues.
  雑誌
Pathol Int 44:124-30 (1994)
DOI:10.1111/j.1440-1827.1994.tb01696.x
文献    
PMID:11017067 (AXIN2)
  著者
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
  タイトル
Mutations in AXIN2 cause colorectal cancer with defective mismatch repair by activating beta-catenin/TCF signalling.
  雑誌
Nat Genet 26:146-7 (2000)
DOI:10.1038/79859
文献    
PMID:12198537 (BRAF, KRAS)
  著者
Rajagopalan H, Bardelli A, Lengauer C, Kinzler KW, Vogelstein B, Velculescu VE
  タイトル
Tumorigenesis: RAF/RAS oncogenes and mismatch-repair status.
  雑誌
Nature 418:934 (2002)
DOI:10.1038/418934a
文献    
PMID:10667569 (CCND1)
  著者
Kong S, Amos CI, Luthra R, Lynch PM, Levin B, Frazier ML
  タイトル
Effects of cyclin D1 polymorphism on age of onset of hereditary nonpolyposis colorectal cancer.
  雑誌
Cancer Res 60:249-52 (2000)
文献    
PMID:12690581 (CHEK2)
  著者
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
  タイトル
The CHEK2 1100delC mutation identifies families with a hereditary breast and colorectal cancer phenotype.
  雑誌
Am J Hum Genet 72:1308-14 (2003)
DOI:10.1086/375121
文献    
PMID:12843323 (FLCN)
  著者
Kahnoski K, Khoo SK, Nassif NT, Chen J, Lobo GP, Segelov E, Teh BT
  タイトル
Alterations of the Birt-Hogg-Dube gene (BHD) in sporadic colorectal tumours.
  雑誌
J Med Genet 40:511-5 (2003)
DOI:10.1136/jmg.40.7.511
文献    
PMID:11317354 (MLH3)
  著者
Lipkin SM, Wang V, Stoler DL, Anderson GR, Kirsch I, Hadley D, Lynch HT, Collins FS
  タイトル
Germline and somatic mutation analyses in the DNA mismatch repair gene MLH3: Evidence for somatic mutation in colorectal cancers.
  雑誌
Hum Mutat 17:389-96 (2001)
DOI:10.1002/humu.1114
文献    
PMID:15016963 (PIK3CA)
  著者
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
  タイトル
High frequency of mutations of the PIK3CA gene in human cancers.
  雑誌
Science 304:554 (2004)
DOI:10.1126/science.1096502
文献    
PMID:21139621 (EGF, TGFA, EREG, AREG)
  著者
Di Fiore F, Sesboue R, Michel P, Sabourin JC, Frebourg T
  タイトル
Molecular determinants of anti-EGFR sensitivity and resistance in metastatic colorectal cancer.
  雑誌
Br J Cancer 103:1765-72 (2010)
DOI:10.1038/sj.bjc.6606008
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