RGD DISEASE ONTOLOGY - ANNOTATIONS
RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term: breast adenocarcinoma
Accession: DOID:3458
browse the term
Definition: A breast carcinoma that originates in the milk ducts and/or lobules (glandular tissue) of the breast. (DO)
Synonyms: exact_synonym: Adenocarcinoma of the breast; Breast adenocarcinoma, somatic; Mammary adenocarcinoma; adenocarcinoma of breast
narrow_synonym: Normal Breast-Like Subtype of Breast Carcinoma; basal-like breast carcinoma
broad_synonym: Mixed Lobular and Ductal Breast Carcinoma
primary_id: RDO:9000715
xref: EFO:0000281 ; EFO:0000304 ; EFO:0000592 ; EFO:1000382 ; EFO:1000402 ; NCI:C5214
For additional species annotation, visit the
Alliance of Genome Resources .
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AKT1
AKT serine/threonine kinase 1
ISO
ClinVar Annotator: match by term: Breast adenocarcinoma, somatic
ClinVar
PMID:17611497 PMID:18256540 PMID:18392055 PMID:18504432 PMID:18611285 PMID:18954143 PMID:19418217 PMID:19487299 PMID:19853286 PMID:20233444 PMID:20453058 PMID:21464312 PMID:21512767 PMID:21793738 PMID:22538770 PMID:22610119 PMID:22722201 PMID:22722839 PMID:22980975 PMID:23237847 PMID:23348505 PMID:23700467 PMID:23728071 PMID:23934607 PMID:24190505 PMID:24657128 PMID:25157968 PMID:25741868 PMID:26619011 PMID:28492532 More...
NCBI chr 8:72,317,399...72,335,686
Ensembl chr 8:72,317,869...72,335,193
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BRCA1
BRCA1 DNA repair associated
treatment
ISO
RGD
PMID:8589721
RGD:126925966
NCBI chr 9:19,958,941...20,025,494
Ensembl chr 9:19,958,391...20,025,494
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CAT
catalase
ISO
RGD
PMID:25050522
RGD:9226881
NCBI chr18:33,383,005...33,422,447
Ensembl chr18:33,383,005...33,422,447
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CCNE1
cyclin E1
ISO
DNA:amplification
RGD
PMID:18089785
RGD:2289225
NCBI chr 1:121,688,622...121,697,533
Ensembl chr 1:121,688,796...121,697,649
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CCNG1
cyclin G1
ISO
mRNA, protein:altered expression:mammary (mouse)
RGD
PMID:11146550
RGD:2315939
NCBI chr 4:47,800,697...47,808,259
Ensembl chr 4:47,801,575...47,808,211
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CYP1B1
cytochrome P450 family 1 subfamily B member 1
ISO
mRNA:increased expression:mammary epithelium (rat)
RGD
PMID:11097088
RGD:7829735
NCBI chr17:30,273,281...30,278,554
Ensembl chr17:30,272,749...30,278,554
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FGFR3
fibroblast growth factor receptor 3
no_association
ISO
DNA:mutation:exons:no mutations found in mutation hotspots in exons 7, 10 or 15
RGD
PMID:11466624
RGD:2289868
NCBI chr 3:62,309,128...62,318,932
Ensembl chr 3:62,303,756...62,323,896
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KRAS
KRAS proto-oncogene, GTPase
ISO
ClinVar Annotator: match by term: Breast adenocarcinoma, somatic
ClinVar
PMID:2278970 PMID:2547513 PMID:3122217 PMID:3627975 PMID:12460918 PMID:15696205 PMID:16361624 PMID:16434492 PMID:16618717 PMID:17332249 PMID:17384584 PMID:18316791 PMID:18794081 PMID:19018267 PMID:19075190 PMID:19114683 PMID:19255327 PMID:19679400 PMID:19773371 PMID:20921462 PMID:20921465 PMID:20978259 PMID:21063026 PMID:21228335 PMID:21398618 PMID:21975775 PMID:22392911 PMID:22407852 PMID:22571758 PMID:22734028 PMID:23182985 PMID:23406027 PMID:24033266 PMID:24558511 PMID:24720724 PMID:25157968 PMID:25705018 PMID:25741868 PMID:25808193 PMID:26623049 PMID:28492532 More...
NCBI chr27:22,261,753...22,296,704
Ensembl chr27:22,257,941...22,293,369
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KSR1
kinase suppressor of ras 1
severity
ISO
RGD
PMID:24909178
RGD:127229932
NCBI chr 9:41,981,475...42,136,552
Ensembl chr 9:41,980,734...42,133,653
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MUC1
mucin 1, cell surface associated
ISO
mRNA,protein:increased expression:breast
RGD
PMID:7678777
RGD:2324855
NCBI chr 7:42,338,939...42,344,690
Ensembl chr 7:42,340,375...42,344,690
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MXI1
MAX interactor 1, dimerization protein
ISO
RGD
PMID:10849326
RGD:1298988
NCBI chr28:21,584,856...21,655,233
Ensembl chr28:21,584,638...21,652,920
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PIK3CA
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha
ISO
ClinVar Annotator: match by term: Breast adenocarcinoma, somatic
ClinVar
PMID:15016963 PMID:15254419 PMID:15520168 PMID:15608678 PMID:15647370 PMID:15805248 PMID:15930273 PMID:16906227 PMID:16930767 PMID:17673550 PMID:18676830 PMID:18725974 PMID:19029981 PMID:19223544 PMID:19366826 PMID:19513541 PMID:19903786 PMID:20453058 PMID:20593314 PMID:20619739 PMID:21078999 PMID:21430269 PMID:21558396 PMID:22162582 PMID:22162589 PMID:22271473 PMID:22370636 PMID:22658544 PMID:22729222 PMID:22729223 PMID:22729224 PMID:23066039 PMID:23100325 PMID:23888070 PMID:23946963 PMID:24782230 PMID:25157968 PMID:25599672 PMID:25741868 PMID:25880439 PMID:26266975 PMID:26266985 PMID:26619011 PMID:26627007 PMID:26637981 PMID:26822237 PMID:27126994 PMID:27626068 PMID:27631024 PMID:28151489 PMID:28425981 PMID:29446767 PMID:29661094 PMID:29988677 PMID:30376034 PMID:30543347 PMID:31536475 PMID:31775759 PMID:34008892 PMID:34496175 PMID:37712948 More...
NCBI chr34:12,600,140...12,681,905
Ensembl chr34:12,600,233...12,675,910
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RB1CC1
RB1 inducible coiled-coil 1
ISO
ClinVar Annotator: match by term: Breast adenocarcinoma
ClinVar
PMID:12068296
NCBI chr29:4,445,668...4,544,223
Ensembl chr29:4,375,785...4,517,168
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SLC22A18
solute carrier family 22 member 18
ISO
ClinVar Annotator: match by term: Breast adenocarcinoma
ClinVar
PMID:9520460
NCBI chr18:46,878,096...46,898,016
Ensembl chr18:46,878,030...46,898,006
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TNF
tumor necrosis factor
ISO
human protein in a rat model
RGD
PMID:12536235
RGD:14995452
NCBI chr12:1,074,561...1,076,425
Ensembl chr12:1,074,552...1,076,425
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TP53
tumor protein p53
ISO
ClinVar Annotator: match by term: Breast adenocarcinoma, somatic
ClinVar
PMID:1673792 PMID:1686725 PMID:7881428 PMID:8364550 PMID:10713666 PMID:11479205 PMID:11896595 PMID:11920959 PMID:12826609 PMID:16861262 PMID:17606709 PMID:20128691 PMID:20522432 PMID:21343334 PMID:23625637 PMID:25503501 PMID:25584008 PMID:25741868 PMID:26619011 PMID:28492532 PMID:29324801 PMID:29470806 PMID:29752822 PMID:29979965 PMID:30224644 PMID:30630526 PMID:33372952 More...
NCBI chr 5:32,561,406...32,565,149
Ensembl chr 5:32,560,598...32,574,109
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ERBB2
erb-b2 receptor tyrosine kinase 2
ISO
DNA:amplification
RGD
PMID:16932067
RGD:2289933
NCBI chr 9:22,760,373...22,785,367
Ensembl chr 9:22,759,256...22,785,294
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