乳腺癌
中文名称
通路描述
乳腺癌是全球女性癌症死亡的首要原因。绝大多数乳腺癌起源于乳腺导管上皮细胞。基于激素受体(雌激素和孕激素亚型)和人表皮生长因子受体 2(HER2)的存在或缺失,乳腺癌的分子亚型包括:激素受体阳性且 HER2 阴性(Luminal A 亚型)、激素受体阳性且 HER2 阳性(Luminal B 亚型)、激素受体阴性且 HER2 阳性(HER2 阳性)以及激素受体阴性且 HER2 阴性(基底样或三阴性乳腺癌(TNBCs))。激素受体阳性乳腺癌主要由雌激素/ER 通路驱动。在 HER2 阳性乳腺癌肿瘤中,HER2 激活 PI3K/AKT 和 RAS/RAF/MAPK 通路,刺激细胞生长、生存和分化。在患有 TNBC 的患者中,已确认各种信号通路(Notch 和 Wnt/beta-catenin)和 EGFR 蛋白的失调。在所有乳腺癌中,只有 8% 的癌症是遗传的,这种现象与 BRCA1 或 BRCA2 中的遗传改变有关。仅在三种基因(TP53、PIK3CA 和 GATA3)中发生体突变,在所有乳腺癌中发生率超过 10%。
英文描述
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.
所含基因
148 个基因
AKT1
AKT2
AKT3
APC
APC2
ARAF
AXIN1
AXIN2
BAK1
BAX
BRAF
BRCA1
BRCA2
CCND1
CDK4
CDK6
CDKN1A
CSNK1A1
CSNK1A1L
CTNNB1
DDB2
DLL1
DLL3
DLL4
DVL1
DVL2
DVL3
E2F1
E2F2
E2F3
EGF
EGFR
ERBB2
ESR1
ESR2
FGF1
FGF10
FGF16
FGF17
FGF18
FGF19
FGF2
FGF20
FGF21
FGF22
FGF23
FGF3
FGF4
FGF5
FGF6
FGF7
FGF8
FGF9
FGFR1
FLT4
FOS
FRAT1
FRAT2
FZD1
FZD10
FZD2
FZD3
FZD4
FZD5
FZD6
FZD7
FZD8
FZD9
GADD45A
GADD45B
GADD45G
GRB2
GSK3B
HES1
HES5
HEY1
HEY2
HEYL
HRAS
IGF1
IGF1R
JAG1
JAG2
JUN
KIT
KRAS
LEF1
LRP5
LRP6
MAP2K1
MAP2K2
MAPK1
MAPK3
MTOR
MYC
NCOA1
NCOA3
NFKB2
NOTCH1
NOTCH2
NOTCH3
NOTCH4
NRAS
P3R3URF-PIK3R3
PGR
PIK3CA
PIK3CB
PIK3CD
PIK3R1
PIK3R2
PIK3R3
POLK
PTEN
RAF1
RB1
RPS6KB1
RPS6KB2
SHC1
SHC2
SHC3
SHC4
SOS1
SOS2
SP1
TCF7
TCF7L1
TCF7L2
TNFSF11
TP53
WNT1
WNT10A
WNT10B
WNT11
WNT16
WNT2
WNT2B
WNT3
WNT3A
WNT4
WNT5A
WNT5B
WNT6
WNT7A
WNT7B
WNT8A
WNT8B
WNT9A
WNT9B