KEGG   DISEASE: 乳癌
エントリ  
H00031                                                             
名称    
乳癌
概要    
Breast cancer is the leading cause of cancer death among women worldwide. The vast majority of breast cancers are carcinomas that originate from cells lining the milk-forming ducts of the mammary gland. The molecular subtypes of breast cancer, which are based on the presence or absence of hormone receptors (estrogen and progesterone subtypes) and human epidermal growth factor receptor-2 (HER2), include: hormone receptor positive and HER2 negative (luminal A subtype), hormone receptor positive and HER2 positive (luminal B subtype), hormone receptor negative and HER2 positive (HER2 positive), and hormone receptor negative and HER2 negative (basal-like or triple-negative breast cancers (TNBCs)). Hormone receptor positive breast cancers are largely driven by the estrogen/ER pathway. In HER2 positive breast tumours, HER2 activates the PI3K/AKT and the RAS/RAF/MAPK pathways, and stimulate cell growth, survival and differentiation. In patients suffering from TNBC, the deregulation of various signalling pathways (Notch and Wnt/beta-catenin), EGFR protein have been confirmed. In the case of breast cancer only 8% of all cancers are hereditary, a phenomenon linked to genetic changes in BRCA1 or BRCA2. Somatic mutations in only three genes (TP53, PIK3CA and GATA3) occurred at >10% incidence across all breast cancers.
カテゴリ  
がん
階層分類  
ヒト疾患 [BR:jp08402]
 がん
  乳房および女性生殖器のがん
   H00031  乳癌
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
    乳房の悪性腫瘍
     2C61  浸潤性乳癌
      H00031  乳癌
パスウェイ 
hsa05224  乳癌
関連パスウェイ
hsa03440  Homologous recombination
hsa03460  Fanconi anemia pathway
hsa04151  PI3K-Akt signaling pathway
ネットワーク
nt06270  Breast cancer
nt06506  Double-strand break repair
nt06508  Interstrand crosslink repair
病因遺伝子 
BRCA1 (germline mutation, hypermethylation) [HSA:672] [KO:K10605]
BRCA2 [HSA:675] [KO:K08775]
BARD1 [HSA:580] [KO:K10683]
BRIP1 [HSA:83990] [KO:K15362]
PALB2 [HSA:79728] [KO:K10897]
RAD51 [HSA:5888] [KO:K04482]
RAD54L [HSA:8438] [KO:K10875]
XRCC3 [HSA:7517] [KO:K10880]
ERBB2/HER2 (overexpression) [HSA:2064] [KO:K05083]
ESR1/ER1 [HSA:2099] [KO:K08550]
PGR [HSA:5241] [KO:K08556]
GATA3 [HSA:2625] [KO:K17895]
PIK3CA [HSA:5290] [KO:K00922]
TP53 [HSA:7157] [KO:K04451]
PPM1D [HSA:8493] [KO:K10147]
RB1CC1 [HSA:9821] [KO:K17589]
HMMR [HSA:3161] [KO:K06267]
NQO2 [HSA:4835] [KO:K08071]
SLC22A18 [HSA:5002] [KO:K08214]
PTEN [HSA:5728] [KO:K01110]
EGFR (overexpression) [HSA:1956] [KO:K04361]
KIT (overexpression) [HSA:3815] [KO:K05091]
NOTCH1 (overexpression) [HSA:4851] [KO:K02599]
NOTCH4 (overexpression) [HSA:4855] [KO:K20996]
FZD7 (overexpression) [HSA:8324] [KO:K02432]
LRP6 (overexpression) [HSA:4040] [KO:K03068]
FGFR1 (amplification) [HSA:2260] [KO:K04362]
CCND1 (amplification) [HSA:595] [KO:K04503]
治療薬   
デキサメタゾン [DR:D00292]
デキサメタゾンリン酸エステルナトリウム [DR:D00975]
ベタメタゾンリン酸エステルナトリウム [DR:D00972]
トリアムシノロンアセトニド [DR:D00983]
ヒドロコルチゾン [DR:D00088]
ヒドロコルチゾンコハク酸エステルナトリウム [DR:D00978]
ベタメタゾン [DR:D00244]
プレドニゾロン [DR:D00472]
プレドニゾロンコハク酸エステルナトリウム [DR:D01239]
メチルプレドニゾロン [DR:D00407]
エチニルエストラジオール [DR:D00554]
メドロキシプロゲステロン酢酸エステル [DR:D00951]
リュープロレリン酢酸塩 [DR:D00989]
ゴセレリン酢酸塩 [DR:D00573]
メピチオスタン [DR:D01602]
メトトレキサート [DR:D00142]
エベロリムス [DR:D02714]
シクロホスファミド水和物 [DR:D00287]
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]
ゲムシタビン塩酸塩 [DR:D01155]
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]
エピルビシン塩酸塩 [DR:D02214]
アクラルビシン塩酸塩 [DR:D01911]
ピラルビシン塩酸塩 [DR:D08386]
ビノレルビン酒石酸塩 [DR:D01935]
パクリタキセル [DR:D00491]
ドセタキセル水和物 [DR:D02165]
ドセタキセル [DR:D07866]
イリノテカン塩酸塩水和物 [DR:D01061]
ミトキサントロン塩酸塩 [DR:D02166]
パルボシクリブ [DR:D10372] (ホルモン受容体陽性, HER2陰性)
アベマシクリブ [DR:D10688] (ホルモン受容体陽性, HER2陰性)
ラパチニブトシル酸塩水和物 [DR:D04024] (HER2過剰発現)
トラスツズマブ [DR:D03257] (HER2過剰発現)
ペルツズマブ [DR:D05446] (HER2陽性)
トラスツズマブエムタンシン [DR:D09980] (HER2陽性)
トラスツズマブデルクステカン [DR:D11529] (HER2陽性)
ペムブロリズマブ [DR:D10574] (ホルモン受容体陰性, HER2陰性)
アテゾリズマブ [DR:D10773] (PD-L1陽性, ホルモン受容体陰性, HER2陰性)
ベバシズマブ [DR:D06409]
カルボプラチン [DR:D01363]
オラパリブ [DR:D09730] (BRCA遺伝子変異陽性, HER2陰性)
エリブリンメシル酸塩 [DR:D08914]
タモキシフェンクエン酸塩 [DR:D00966]
トレミフェンクエン酸塩 [DR:D00967]
フルベストラント [DR:D01161]
アナストロゾール [DR:D00960]
レトロゾール [DR:D00964]
エキセメスタン [DR:D00963]
リンク   
ICD-11: 2C61
ICD-10: C50
MeSH: D001943
OMIM: 114480
文献    
PMID:28976962 (BRCA1, BARD1, RAD51)
  著者
Zhao W, Steinfeld JB, Liang F, Chen X, Maranon DG, Jian Ma C, Kwon Y, Rao T, Wang W, Sheng C, Song X, Deng Y, Jimenez-Sainz J, Lu L, Jensen RB, Xiong Y, Kupfer GM, Wiese C, Greene EC, Sung P
  タイトル
BRCA1-BARD1 promotes RAD51-mediated homologous DNA pairing.
  雑誌
Nature 550:360-365 (2017)
DOI:10.1038/nature24060
文献    
PMID:9425226 (BARD1)
  著者
Thai TH, Du F, Tsan JT, Jin Y, Phung A, Spillman MA, Massa HF, Muller CY, Ashfaq R, Mathis JM, Miller DS, Trask BJ, Baer R, Bowcock AM
  タイトル
Mutations in the BRCA1-associated RING domain (BARD1) gene in primary breast, ovarian and uterine cancers.
  雑誌
Hum Mol Genet 7:195-202 (1998)
DOI:10.1093/hmg/7.2.195
文献    
PMID:29368626 (BRIP1)
  著者
Weber-Lassalle N, Hauke J, Ramser J, Richters L, Gross E, Blumcke B, Gehrig A, Kahlert AK, Muller CR, Hackmann K, Honisch E, Weber-Lassalle K, Niederacher D, Borde J, Thiele H, Ernst C, Altmuller J, Neidhardt G, Nurnberg P, Klaschik K, Schroeder C, Platzer K, Volk AE, Wang-Gohrke S, Just W, Auber B, Kubisch C, Schmidt G, Horvath J, Wappenschmidt B, Engel C, Arnold N, Dworniczak B, Rhiem K, Meindl A, Schmutzler RK, Hahnen E
  タイトル
BRIP1 loss-of-function mutations confer high risk for familial ovarian cancer, but not familial breast cancer.
  雑誌
Breast Cancer Res 20:7 (2018)
DOI:10.1186/s13058-018-0935-9
文献    
PMID:24556926 (PALB2)
  著者
Catucci I, Peterlongo P, Ciceri S, Colombo M, Pasquini G, Barile M, Bonanni B, Verderio P, Pizzamiglio S, Foglia C, Falanga A, Marchetti M, Galastri L, Bianchi T, Corna C, Ravagnani F, Bernard L, Fortuzzi S, Sardella D, Scuvera G, Peissel B, Manoukian S, Tondini C, Radice P
  タイトル
PALB2 sequencing in Italian familial breast cancer cases reveals a high-risk mutation recurrent in the province of Bergamo.
  雑誌
Genet Med 16:688-94 (2014)
DOI:10.1038/gim.2014.13
文献    
PMID:10362365 (RAD54L)
  著者
Matsuda M, Miyagawa K, Takahashi M, Fukuda T, Kataoka T, Asahara T, Inui H, Watatani M, Yasutomi M, Kamada N, Dohi K, Kamiya K
  タイトル
Mutations in the RAD54 recombination gene in primary cancers.
  雑誌
Oncogene 18:3427-30 (1999)
DOI:10.1038/sj.onc.1202692
文献    
PMID:12023982 (XRCC3)
  著者
Kuschel B, Auranen A, McBride S, Novik KL, Antoniou A, Lipscombe JM, Day NE, Easton DF, Ponder BA, Pharoah PD, Dunning A
  タイトル
Variants in DNA double-strand break repair genes and breast cancer susceptibility.
  雑誌
Hum Mol Genet 11:1399-407 (2002)
DOI:10.1093/hmg/11.12.1399
文献    
PMID:10448115 (MYC, BRCA1, BRCA2, TP53, ERBB2)
  著者
Ingvarsson S.
  タイトル
Molecular genetics of breast cancer progression.
  雑誌
Semin Cancer Biol 9:277-88 (1999)
DOI:10.1006/scbi.1999.0124
文献    
PMID:31106278 (ESR1, PIK3CA)
  著者
Lei JT, Gou X, Seker S, Ellis MJ
  タイトル
ESR1 alterations and metastasis in estrogen receptor positive breast cancer.
  雑誌
J Cancer Metastasis Treat 5:38 (2019)
DOI:10.20517/2394-4722.2019.12
文献    
PMID:29302853 (PGR)
  著者
Ghali RM, Al-Mutawa MA, Ebrahim BH, Jrah HH, Zaied S, Bhiri H, Hmila F, Mahjoub T, Almawi WY
  タイトル
Progesterone Receptor (PGR) Gene Variants Associated with Breast Cancer and Associated Features: a Case-Control Study.
  雑誌
Pathol Oncol Res 26:141-147 (2020)
DOI:10.1007/s12253-017-0379-z
文献    
PMID:23000897 (TP53, PIK3CA, GATA3)
  タイトル
Comprehensive molecular portraits of human breast tumours.
  雑誌
Nature 490:61-70 (2012)
DOI:10.1038/nature11412
文献    
PMID:21203526 (RB1CC1, TP53)
  著者
Chano T, Ikebuchi K, Tomita Y, Jin Y, Inaji H, Ishitobi M, Teramoto K, Ochi Y, Tameno H, Nishimura I, Minami K, Inoue H, Isono T, Saitoh M, Shimada T, Hisa Y, Okabe H
  タイトル
RB1CC1 together with RB1 and p53 predicts long-term survival in Japanese breast cancer patients.
  雑誌
PLoS One 5:e15737 (2010)
DOI:10.1371/journal.pone.0015737
文献    
PMID:32231069 (HMMR)
  著者
He Z, Mei L, Connell M, Maxwell CA
  タイトル
Hyaluronan Mediated Motility Receptor () Encodes an Evolutionarily Conserved Homeostasis, Mitosis, and Meiosis Regulator Rather than a Hyaluronan Receptor.
  雑誌
Cells 9:E819 (2020)
DOI:10.3390/cells9040819
文献    
PMID:19351655 (NQO2)
  著者
Yu KD, Di GH, Yuan WT, Fan L, Wu J, Hu Z, Shen ZZ, Zheng Y, Huang W, Shao ZM
  タイトル
Functional polymorphisms, altered gene expression and genetic association link NRH:quinone oxidoreductase 2 to breast cancer with wild-type p53.
  雑誌
Hum Mol Genet 18:2502-17 (2009)
DOI:10.1093/hmg/ddp171
文献    
PMID:23242139 (PPM1D)
  著者
Ruark E, Snape K, Humburg P, Loveday C, Bajrami I, Brough R, Rodrigues DN, Renwick A, Seal S, Ramsay E, Duarte Sdel V, Rivas MA, Warren-Perry M, Zachariou A, Campion-Flora A, Hanks S, Murray A, Ansari Pour N, Douglas J, Gregory L, Rimmer A, Walker NM, Yang TP, Adlard JW, Barwell J, Berg J, Brady AF, Brewer C, Brice G, Chapman C, Cook J, Davidson R, Donaldson A, Douglas F, Eccles D, Evans DG, Greenhalgh L, Henderson A, Izatt L, Kumar A, Lalloo F, Miedzybrodzka Z, Morrison PJ, Paterson J, Porteous M, Rogers MT, Shanley S, Walker L, Gore M, Houlston R, Brown MA, Caufield MJ, Deloukas P, McCarthy MI, Todd JA, Turnbull C, Reis-Filho JS, Ashworth A, Antoniou AC, Lord CJ, Donnelly P, Rahman N
  タイトル
Mosaic PPM1D mutations are associated with predisposition to breast and ovarian cancer.
  雑誌
Nature 493:406-10 (2013)
DOI:10.1038/nature11725
文献    
PMID:9520460 (SLC22A18)
  著者
Schwienbacher C, Sabbioni S, Campi M, Veronese A, Bernardi G, Menegatti A, Hatada I, Mukai T, Ohashi H, Barbanti-Brodano G, Croce CM, Negrini M
  タイトル
Transcriptional map of 170-kb region at chromosome 11p15.5: identification and mutational analysis of the BWR1A gene reveals the presence of mutations in tumor  samples.
  雑誌
Proc Natl Acad Sci U S A 95:3873-8 (1998)
DOI:10.1073/pnas.95.7.3873
文献    
  著者
Dai X, Xiang L, Li T, Bai Z
  タイトル
Cancer Hallmarks, Biomarkers and Breast Cancer Molecular Subtypes.
  雑誌
J Cancer 7:1281-94 (2016)
DOI:10.7150/jca.13141
文献    
  著者
Zhang MH, Man HT, Zhao XD, Dong N, Ma SL
  タイトル
Estrogen receptor-positive breast cancer molecular signatures and therapeutic potentials (Review).
  雑誌
Biomed Rep 2:41-52 (2014)
DOI:10.3892/br.2013.187
文献    
  著者
Schneider BP, Winer EP, Foulkes WD, Garber J, Perou CM, Richardson A, Sledge GW, Carey LA
  タイトル
Triple-negative breast cancer: risk factors to potential targets.
  雑誌
Clin Cancer Res 14:8010-8 (2008)
DOI:10.1158/1078-0432.CCR-08-1208
文献    
  著者
King TD, Suto MJ, Li Y
  タイトル
The Wnt/beta-catenin signaling pathway: a potential therapeutic target in the treatment of triple negative breast cancer.
  雑誌
J Cell Biochem 113:13-8 (2012)
DOI:10.1002/jcb.23350
文献    
PMID:26040571 (EGFR, NOTCH1, NOTCH4, FZD7, LRP6)
  著者
Jamdade VS, Sethi N, Mundhe NA, Kumar P, Lahkar M, Sinha N
  タイトル
Therapeutic targets of triple-negative breast cancer: a review.
  雑誌
Br J Pharmacol 172:4228-37 (2015)
DOI:10.1111/bph.13211
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