breast carcinoma Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Tumors or cancer of the human BREAST.|A carcinoma arising from the breast, most commonly the terminal ductal-lobular unit. It is the most common malignant tumor in females. Risk factors include country of birth, family history, menstrual and reproductive history, fibrocystic disease and epithelial hyperplasia, exogenous estrogens, contraceptive agents, and ionizing radiation. The vast majority of breast carcinomas are adenocarcinomas (ductal or lobular). Breast carcinoma spreads by direct invasion, by the lymphatic route, and by the blood vessel route. The most common site of lymph node involvement is the axilla.|A carcinoma arising from the breast, most commonly the terminal ductal-lobular unit. It is the most common malignant tumor in females. Risk factors include country of birth, family history, menstrual and reproductive history, fibrocystic disease and epithelial hyperplasia, exogenous estrogens, contraceptive agents, and ionizing radiation. The vast majority of breast carcinomas are adenocarcinomas (ductal or lobular). Breast carcinoma spreads by direct invasion, by the lymphatic route, and by the blood vessel route. The most common site of lymph node involvement is the axilla.|A carcinoma that derives_from breast tissue.|Cancer of the human MAMMARY GLAND.|Tumor or cancer of the human MAMMARY GLAND.|A carcinoma that originates from breast tissue. (Experimental Factor Ontology, EFO_0000305)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0003002
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Genes

22 genes associated with the breast carcinoma phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ABCC11 ATP-binding cassette, sub-family C (CFTR/MRP), member 11
AKT1 v-akt murine thymoma viral oncogene homolog 1
ATR ATR serine/threonine kinase
BRIP1 BRCA1 interacting protein C-terminal helicase 1
CDH1 cadherin 1, type 1, E-cadherin (epithelial)
CHEK2 checkpoint kinase 2
CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa
FGFR2 fibroblast growth factor receptor 2
KRAS Kirsten rat sarcoma viral oncogene homolog
MLH1 mutL homolog 1
MSH2 mutS homolog 2
PARK2 parkin RBR E3 ubiquitin protein ligase
PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
PPM1D protein phosphatase, Mg2+/Mn2+ dependent, 1D
PTEN phosphatase and tensin homolog
RB1CC1 RB1-inducible coiled-coil 1
SDHB succinate dehydrogenase complex, subunit B, iron sulfur (Ip)
SLC22A18 solute carrier family 22, member 18
STK11 serine/threonine kinase 11
TP53 tumor protein p53
TSG101 tumor susceptibility 101
TWIST1 twist family bHLH transcription factor 1