KEGG   DISEASE: Breast cancerHelp
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 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-accociated carbohydrates [br08441.html]
 H00031
BRITE hierarchy
Pathway
hsa05224  Breast cancer
hsa05206  MicroRNAs in cancer
Network
N00020  Amplified FGFR to RAS-ERK signaling pathway
N00022  ERBB2-overexpression to RAS-ERK signaling pathway
N00034  ERBB2-overexpression to PI3K signaling pathway
N00038  Amplified FGFR to PI3K signaling pathway
N00041  EGFR-overexpression to RAS-ERK signaling pathway
N00042  EGFR-overexpression to PI3K signaling pathway
N00049  Mutation-activated PI3K to PI3K signaling pathway
N00050  Amplified PI3K to PI3K signaling pathway
N00052  Mutation-inactivated PTEN to PI3K signaling pathway
N00059  FZD7-overexpression to Wnt signaling pathway
N00060  LRP6-overexpression to Wnt signaling pathway
N00087  NOTCH-overexpression to Notch signaling pathway
N00115  Mutation-inactivated TP53 to transcription
N00275  Amplified CCND1 to cell cycle G1/S
N00287  ESR1-positive to nuclear-initiated estrogen signaling pathway
 » show all
Gene
ESR1 (positive) [HSA:2099] [KO:K08550]
FGFR1 (amplification) [HSA:2260] [KO:K04362]
PIK3CA (mutation) [HSA:5290] [KO:K00922]
PTEN (mutation) [HSA:5728] [KO:K01110]
p53 (mutation) [HSA:7157] [KO:K04451]
CCND1 (amplification) [HSA:595] [KO:K04503]
ERBB2 (overexpression) [HSA:2064] [KO:K05083]
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]
BRCA1 (germline mutation, hypermethylation) [HSA:672] [KO:K10605]
BRCA2 (germline mutation) [HSA:675] [KO:K08775]
Carcinogen
Estrogen-progestogen menopausal therapy (combined)
Estrogen-progestogen oral contraceptives (combined)
Estrogen therapy, postmenopausal
Oral contraceptives, sequential
Radium-224 and its decay products
X- and gamma-radiation
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]
Trastuzumab [DR:D03257] (HER2 overexpressing)
Pertuzumab [DR:D05446] (HER2 positive)
Trastuzumab emtansine [DR:D09980] (HER2 positive)
Lapatinib ditosylate [DR:D04024] (HER2 overexpressing)
Everolimus [DR:D02714] (HER2 negative)
Palbociclib [DR:D10372] (HR-positive, HER2-negative)
Ribociclib succinate [DR:D10979] (HR-positive, HER2-negative)
Neratinib maleate [DR:D10898] (early stage HER2-overexpressed/amplified)
Abemaciclib [DR:D10688] (HR positive, HER2 negative)
Eribulin mesylate [DR:D08914]
Olaparib [DR:D09730] (BRCA-mutated, HER2-negative)
Talazoparib tosylate [DR:D10733] (BRCA-mutated, HER2-negative)
Goserelin acetate [DR:D00573]
Tamoxifen citrate [DR:D00966]
Toremifene citrate [DR:D00967] (ER positive)
Fulvestrant [DR:D01161] (ER positive, HER2 negative)
Anastrozole [DR:D00960]
Letrozole [DR:D00964]
Exemestane [DR:D00963]
Estrogens, esterified [DR:D04071]
Letrozole - ribociclib mixt [DR:D11068] (HER2 negative)
Comment
ICD-O: 8500/3, Tumor type: Invasive ductal carcinoma, not otherwise specified
ICD-O: 8520/3, Tumor type: Invasive lobular carcinoma
Other DBs
ICD-11: 2C61
ICD-10: C50
MeSH: D001943
Reference
PMID:10448115 (gene, tumor type)
  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
  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
  Title
Comprehensive molecular portraits of human breast tumours.
  Journal
Nature 490:61-70 (2012)
DOI:10.1038/nature11412
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
  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
Reference
PMID:17464097 (carcinogen)
  Authors
Ito K.
  Title
Hormone replacement therapy and cancers: the biological roles of estrogen and progestin in tumorigenesis are different between the endometrium and breast.
  Journal
Tohoku J Exp Med 212:1-12 (2007)
DOI:10.1620/tjem.212.1
Reference
PMID:17135036 (carcinogen)
  Authors
Schmidt JW, Wollner D, Curcio J, Riedlinger J, Kim LS.
  Title
Hormone replacement therapy in menopausal women: Past problems and future possibilities.
  Journal
Gynecol Endocrinol 22:564-77 (2006)
DOI:10.1080/09513590600927017
Reference
PMID:15192054 (carcinogen)
  Authors
.
  Title
Hormones and breast cancer.
  Journal
Hum Reprod Update 10:281-93 (2004)
DOI:10.1093/humupd/dmh025
Reference
PMID:14534338 (carcinogen)
  Authors
Petitti DB.
  Title
Clinical practice. Combination estrogen-progestin oral contraceptives.
  Journal
N Engl J Med 349:1443-50 (2003)
DOI:10.1056/NEJMcp030751
Reference
PMID:16278609 (carcinogen)
  Authors
Shah NR, Borenstein J, Dubois RW.
  Title
Postmenopausal hormone therapy and breast cancer: a systematic review and meta-analysis.
  Journal
Menopause 12:668-78 (2005)
DOI:10.1097/01.gme.0000184221.63459.e1
Reference
PMID:10564925 (carcinogen)
  Authors
Nekolla EA, Kellerer AM, Kuse-Isingschulte M, Eder E, Spiess H.
  Title
Malignancies in patients treated with high doses of radium-224.
  Journal
Radiat Res 152:S3-7 (1999)
DOI:10.2307/3580102
Reference
PMID:15070562 (carcinogen)
  Authors
Berrington de Gonzalez A, Darby S.
  Title
Risk of cancer from diagnostic X-rays: estimates for the UK and 14 other countries.
  Journal
Lancet 363:345-51 (2004)
DOI:10.1016/S0140-6736(04)15433-0

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