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.
ヒト疾患 [BR:jp08402]
   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
     2C61  浸潤性乳癌
      H00031  乳癌
hsa05224  乳癌
hsa05200  Pathways in cancer
hsa05206  MicroRNAs in cancer
hsa05205  Proteoglycans in cancer
hsa04151  PI3K-Akt signaling pathway
hsa03440  Homologous recombination
hsa03460  Fanconi anemia pathway
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]
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]
HMMR [HSA:3161] [KO:K06267]
NQO2 [HSA:4835] [KO:K08071]
PPM1D [HSA:8493] [KO:K10147]
RB1CC1 [HSA:9821] [KO:K17589]
SLC22A18 [HSA:5002] [KO:K08214]
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
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)
カルボプラチン [DR:D01363]
トラスツズマブ [DR:D03257] (HER2過剰発現)
ベバシズマブ [DR:D06409]
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)
ペムブロリズマブ [DR:D10574] (PD-L1陽性, 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)
トラスツズマブデルクステカン [DR:D11529] (HER2陽性)
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]
ICD-O: 8500/3, Tumor type: Invasive ductal carcinoma, not otherwise specified
ICD-O: 8520/3, Tumor type: Invasive lobular carcinoma
ICD-11: 2C61
ICD-10: C50
MeSH: D001943
PMID:10448115 (gene, tumor type)
Ingvarsson S.
Molecular genetics of breast cancer progression.
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Nature 550:360-365 (2017)
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Hyaluronan Mediated Motility Receptor (HMMR) Encodes an Evolutionarily Conserved Homeostasis, Mitosis, and Meiosis Regulator Rather than a Hyaluronan Receptor.
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Functional polymorphisms, altered gene expression and genetic association link NRH:quinone oxidoreductase 2 to breast cancer with wild-type p53.
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