KEGG   DISEASE: Breast cancer
Entry
H00031                      Disease                                
Name
Breast cancer
Description
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.
Category
Cancer
Brite
Human diseases [BR:br08402]
 Cancers
  Cancers of the breast and female genital organs
   H00031  Breast 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 breast
     2C61  Invasive carcinoma of breast
      H00031  Breast cancer
Tumor markers [br08442.html]
 H00031
Cancer-associated carbohydrates [br08441.html]
 H00031
Pathway
hsa05224  Breast cancer
Related
pathway
hsa03440  Homologous recombination
hsa03460  Fanconi anemia pathway
hsa04151  PI3K-Akt signaling pathway
Network
nt06270  Breast cancer
nt06506  Double-strand break repair
nt06508  Interstrand crosslink repair
Gene
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]
Drug
Fluoxymesterone [DR:D00327]
Methyltestosterone [DR:D00408]
Testosterone enanthate [DR:D00958]
Cyclophosphamide [DR:D00287]
Thiotepa [DR:D00583]
Methotrexate sodium [DR:D02115]
Gemcitabine hydrochloride [DR:D01155]
Capecitabine [DR:D01223]
Vinblastine sulfate [DR:D01068]
Paclitaxel [DR:D00491]
Docetaxel [DR:D07866]
Docetaxel [DR:D02165]
Doxorubicin hydrochloride [DR:D01275]
Epirubicin hydrochloride [DR:D02214]
Ixabepilone [DR:D04645]
Palbociclib [DR:D10372] (HR positive, HER2 negative)
Ribociclib succinate [DR:D10979] (HR-positive, HER2-negative)
Abemaciclib [DR:D10688] (HR positive, HER2 negative)
Everolimus [DR:D02714] (HR positive, HER2 negative)
Lapatinib ditosylate [DR:D04024] (HER2 overexpressing)
Neratinib maleate [DR:D10898] (HER2 positive)
Tucatinib [DR:D11141] (HER2 positive)
Alpelisib [DR:D11011] (HR-positive, HER2-negative, PIK3CA-mutated)
Trastuzumab [DR:D03257] (HER2 overexpressing)
Pertuzumab [DR:D05446] (HER2 positive)
Trastuzumab emtansine [DR:D09980] (HER2 positive)
Trastuzumab deruxtecan [DR:D11529] (HER2 positive)
Pembrolizumab [DR:D10574] (triple-negative, PD-L1 expressed)
Atezolizumab [DR:D10773] (PD-L1 expressed, HR negative, HER2 negative)
Sacituzumab govitecan [DR:D10985] (triple negative)
Olaparib [DR:D09730] (BRCA-mutated, HER2-negative)
Talazoparib tosylate [DR:D10733] (BRCA mutated, HER2 negative)
Eribulin mesylate [DR:D08914]
Pertuzumab, trastuzumab and hyaluronidase [DR:D11934]
Goserelin acetate [DR:D00573]
Tamoxifen citrate [DR:D00966] (ER-positive)
Toremifene citrate [DR:D00967] (ER-positive)
Fulvestrant [DR:D01161] (HR positive, HER2 negative)
Anastrozole [DR:D00960] (HR-positive or HR-unknown)
Letrozole [DR:D00964] (HR-positive)
Exemestane [DR:D00963] (ER-positive)
Estrogens, esterified [DR:D04071]
Margetuximab [DR:D10446] (HER2 positive)
Letrozole and ribociclib [DR:D11068] (HR positive, HER2 negative)
Trastuzumab and hyaluronidase [DR:D11560] (HER2 overexpressing or ER/PR negative)
Other DBs
ICD-11: 2C61
ICD-10: C50
MeSH: D001943
OMIM: 114480
Reference
PMID:28976962 (BRCA1, BARD1, RAD51)
  Authors
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
  Title
BRCA1-BARD1 promotes RAD51-mediated homologous DNA pairing.
  Journal
Nature 550:360-365 (2017)
DOI:10.1038/nature24060
Reference
PMID:9425226 (BARD1)
  Authors
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
  Title
Mutations in the BRCA1-associated RING domain (BARD1) gene in primary breast, ovarian and uterine cancers.
  Journal
Hum Mol Genet 7:195-202 (1998)
DOI:10.1093/hmg/7.2.195
Reference
PMID:29368626 (BRIP1)
  Authors
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
  Title
BRIP1 loss-of-function mutations confer high risk for familial ovarian cancer, but not familial breast cancer.
  Journal
Breast Cancer Res 20:7 (2018)
DOI:10.1186/s13058-018-0935-9
Reference
PMID:24556926 (PALB2)
  Authors
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
  Title
PALB2 sequencing in Italian familial breast cancer cases reveals a high-risk mutation recurrent in the province of Bergamo.
  Journal
Genet Med 16:688-94 (2014)
DOI:10.1038/gim.2014.13
Reference
PMID:10362365 (RAD54L)
  Authors
Matsuda M, Miyagawa K, Takahashi M, Fukuda T, Kataoka T, Asahara T, Inui H, Watatani M, Yasutomi M, Kamada N, Dohi K, Kamiya K
  Title
Mutations in the RAD54 recombination gene in primary cancers.
  Journal
Oncogene 18:3427-30 (1999)
DOI:10.1038/sj.onc.1202692
Reference
PMID:12023982 (XRCC3)
  Authors
Kuschel B, Auranen A, McBride S, Novik KL, Antoniou A, Lipscombe JM, Day NE, Easton DF, Ponder BA, Pharoah PD, Dunning A
  Title
Variants in DNA double-strand break repair genes and breast cancer susceptibility.
  Journal
Hum Mol Genet 11:1399-407 (2002)
DOI:10.1093/hmg/11.12.1399
Reference
PMID:10448115 (MYC, BRCA1, BRCA2, TP53, ERBB2)
  Authors
Ingvarsson S.
  Title
Molecular genetics of breast cancer progression.
  Journal
Semin Cancer Biol 9:277-88 (1999)
DOI:10.1006/scbi.1999.0124
Reference
PMID:31106278 (ESR1, PIK3CA)
  Authors
Lei JT, Gou X, Seker S, Ellis MJ
  Title
ESR1 alterations and metastasis in estrogen receptor positive breast cancer.
  Journal
J Cancer Metastasis Treat 5:38 (2019)
DOI:10.20517/2394-4722.2019.12
Reference
PMID:29302853 (PGR)
  Authors
Ghali RM, Al-Mutawa MA, Ebrahim BH, Jrah HH, Zaied S, Bhiri H, Hmila F, Mahjoub T, Almawi WY
  Title
Progesterone Receptor (PGR) Gene Variants Associated with Breast Cancer and Associated Features: a Case-Control Study.
  Journal
Pathol Oncol Res 26:141-147 (2020)
DOI:10.1007/s12253-017-0379-z
Reference
PMID:23000897 (TP53, PIK3CA, GATA3)
  Title
Comprehensive molecular portraits of human breast tumours.
  Journal
Nature 490:61-70 (2012)
DOI:10.1038/nature11412
Reference
PMID:21203526 (RB1CC1, TP53)
  Authors
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
  Title
RB1CC1 together with RB1 and p53 predicts long-term survival in Japanese breast cancer patients.
  Journal
PLoS One 5:e15737 (2010)
DOI:10.1371/journal.pone.0015737
Reference
PMID:32231069 (HMMR)
  Authors
He Z, Mei L, Connell M, Maxwell CA
  Title
Hyaluronan Mediated Motility Receptor () Encodes an Evolutionarily Conserved Homeostasis, Mitosis, and Meiosis Regulator Rather than a Hyaluronan Receptor.
  Journal
Cells 9:E819 (2020)
DOI:10.3390/cells9040819
Reference
PMID:19351655 (NQO2)
  Authors
Yu KD, Di GH, Yuan WT, Fan L, Wu J, Hu Z, Shen ZZ, Zheng Y, Huang W, Shao ZM
  Title
Functional polymorphisms, altered gene expression and genetic association link NRH:quinone oxidoreductase 2 to breast cancer with wild-type p53.
  Journal
Hum Mol Genet 18:2502-17 (2009)
DOI:10.1093/hmg/ddp171
Reference
PMID:23242139 (PPM1D)
  Authors
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
  Title
Mosaic PPM1D mutations are associated with predisposition to breast and ovarian cancer.
  Journal
Nature 493:406-10 (2013)
DOI:10.1038/nature11725
Reference
PMID:9520460 (SLC22A18)
  Authors
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
  Title
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.
  Journal
Proc Natl Acad Sci U S A 95:3873-8 (1998)
DOI:10.1073/pnas.95.7.3873
Reference
  Authors
Dai X, Xiang L, Li T, Bai Z
  Title
Cancer Hallmarks, Biomarkers and Breast Cancer Molecular Subtypes.
  Journal
J Cancer 7:1281-94 (2016)
DOI:10.7150/jca.13141
Reference
  Authors
Zhang MH, Man HT, Zhao XD, Dong N, Ma SL
  Title
Estrogen receptor-positive breast cancer molecular signatures and therapeutic potentials (Review).
  Journal
Biomed Rep 2:41-52 (2014)
DOI:10.3892/br.2013.187
Reference
  Authors
Schneider BP, Winer EP, Foulkes WD, Garber J, Perou CM, Richardson A, Sledge GW, Carey LA
  Title
Triple-negative breast cancer: risk factors to potential targets.
  Journal
Clin Cancer Res 14:8010-8 (2008)
DOI:10.1158/1078-0432.CCR-08-1208
Reference
  Authors
King TD, Suto MJ, Li Y
  Title
The Wnt/beta-catenin signaling pathway: a potential therapeutic target in the treatment of triple negative breast cancer.
  Journal
J Cell Biochem 113:13-8 (2012)
DOI:10.1002/jcb.23350
Reference
PMID:26040571 (EGFR, NOTCH1, NOTCH4, FZD7, LRP6)
  Authors
Jamdade VS, Sethi N, Mundhe NA, Kumar P, Lahkar M, Sinha N
  Title
Therapeutic targets of triple-negative breast cancer: a review.
  Journal
Br J Pharmacol 172:4228-37 (2015)
DOI:10.1111/bph.13211
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