KEGG   DISEASE: Breast cancer
H00031                      Disease                                

Breast cancer
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.
Human diseases [BR:br08402]
  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]
Cancer-associated carbohydrates [br08441.html]
hsa05224  Breast cancer
hsa05200  Pathways in cancer
hsa05206  MicroRNAs in cancer
hsa05205  Proteoglycans in cancer
nt06270  Breast cancer
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
N01350  NNK/NNN to PI3K signaling pathway
N01352  BPA to RAS-ERK signaling pathway
N01353  E2 to RAS-ERK signaling pathway
N01354  BPA to RAS-ERK signaling pathway
N01357  P4/MPA to membrane-initiated progesterone signaling pathway
N01359  P4/MPA to PR-PI3K signaling pathway
N01361  P4/MPA to PR-RAS-ERK signaling pathway
N01363  P4/MPA to nuclear-initiated progesterone signaling pathway
N01364  E2 to nuclear-initiated estrogen signaling pathway
N01367  PCB to Ahr signaling pathway
N01368  HCB to Ahr signaling pathway
N01370  PhIP to DNA adducts
N01371  PhIP to DNA adducts
N01372  IQ to DNA adducts
N01375  DMBA to DNA adducts
N01386  DCE to DNA adducts
N01401  Benzo[a]pyrenre to CYP-mediated metabolism
N01404  17beta-estradiol to CYP-mediated metabolism
N01405  17beta-estradiol to CYP-mediated metabolism
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]
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
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)
Pembrolizumab [DR:D10574] (triple-negative, PD-L1 expressed)
Atezolizumab [DR:D10773] (PD-L1 expressed, HR negative, HER2 negative)
Trastuzumab deruxtecan [DR:D11529] (HER2 positive)
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)
Sacituzumab govitecan [DR:D10985] (triple negative)
Letrozole and ribociclib [DR:D11068] (HR positive, HER2 negative)
Trastuzumab and hyaluronidase [DR:D11560] (HER2 overexpressing or ER/PR negative)
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
PMID:10448115 (gene, tumor type)
Ingvarsson S.
Molecular genetics of breast cancer progression.
Semin Cancer Biol 9:277-88 (1999)
Dai X, Xiang L, Li T, Bai Z
Cancer Hallmarks, Biomarkers and Breast Cancer Molecular Subtypes.
J Cancer 7:1281-94 (2016)
Comprehensive molecular portraits of human breast tumours.
Nature 490:61-70 (2012)
Zhang MH, Man HT, Zhao XD, Dong N, Ma SL
Estrogen receptor-positive breast cancer molecular signatures and therapeutic potentials (Review).
Biomed Rep 2:41-52 (2014)
Schneider BP, Winer EP, Foulkes WD, Garber J, Perou CM, Richardson A, Sledge GW, Carey LA
Triple-negative breast cancer: risk factors to potential targets.
Clin Cancer Res 14:8010-8 (2008)
King TD, Suto MJ, Li Y
The Wnt/beta-catenin signaling pathway: a potential therapeutic target in the treatment of triple negative breast cancer.
J Cell Biochem 113:13-8 (2012)
Jamdade VS, Sethi N, Mundhe NA, Kumar P, Lahkar M, Sinha N
Therapeutic targets of triple-negative breast cancer: a review.
Br J Pharmacol 172:4228-37 (2015)
PMID:17464097 (carcinogen)
Ito K.
Hormone replacement therapy and cancers: the biological roles of estrogen and progestin in tumorigenesis are different between the endometrium and breast.
Tohoku J Exp Med 212:1-12 (2007)
PMID:17135036 (carcinogen)
Schmidt JW, Wollner D, Curcio J, Riedlinger J, Kim LS.
Hormone replacement therapy in menopausal women: Past problems and future possibilities.
Gynecol Endocrinol 22:564-77 (2006)
PMID:15192054 (carcinogen)
Hormones and breast cancer.
Hum Reprod Update 10:281-93 (2004)
PMID:14534338 (carcinogen)
Petitti DB.
Clinical practice. Combination estrogen-progestin oral contraceptives.
N Engl J Med 349:1443-50 (2003)
PMID:16278609 (carcinogen)
Shah NR, Borenstein J, Dubois RW.
Postmenopausal hormone therapy and breast cancer: a systematic review and meta-analysis.
Menopause 12:668-78 (2005)
PMID:10564925 (carcinogen)
Nekolla EA, Kellerer AM, Kuse-Isingschulte M, Eder E, Spiess H.
Malignancies in patients treated with high doses of radium-224.
Radiat Res 152:S3-7 (1999)
PMID:15070562 (carcinogen)
Berrington de Gonzalez A, Darby S.
Risk of cancer from diagnostic X-rays: estimates for the UK and 14 other countries.
Lancet 363:345-51 (2004)

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