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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:ductal carcinoma in situ
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Accession:DOID:0060074 term browser browse the term
Definition:A breast carcinoma in situ that is characterized by being non-invasive, not having spread outside of the duct into the surrounding breast tissue, has_material_basis_in abnormally proliferating cells, derives_from epithelial cells. (DO)
Synonyms:exact_synonym: DCIS;   Intraductal Carcinoma;   ductal breast carcinoma in situ;   intraductal carcinomas;   noninfiltrating intraductal carcinoma;   noninfiltrating intraductal carcinomas
 related_synonym: Atypical Ductal Hyperplasia;   atypical ductal hyperplasias
 xref: EFO:0000432;   EFO:0008491;   MESH:D002285;   MONDO:0005023


show annotations for term's descendants           Sort by:
ductal carcinoma in situ term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akr1c3 aldo-keto reductase family 1, member C3 ISO protein:increased expression:myoepithelial cells: RGD PMID:16735089 RGD:10053629 NCBI chr17:71,020,884...71,037,779
Ensembl chr17:70,970,900...71,048,438 		JBrowse link
G Ang angiogenin ISO protein:increased expression:breast RGD PMID:15776477 RGD:2325702 NCBI chr15:26,786,233...26,796,883
Ensembl chr15:26,786,065...26,801,106 		JBrowse link
G Anxa1 annexin A1 ISO protein:decreased expression:mammary gland RGD PMID:22323911 RGD:7421537 NCBI chr 1:227,287,713...227,306,739
Ensembl chr 1:227,287,717...227,306,831 		JBrowse link
G Ar androgen receptor ISO RGD PMID:17543076 RGD:1643341 NCBI chr  X:67,135,317...67,304,476
Ensembl chr  X:67,135,317...67,304,467 		JBrowse link
G Areg amphiregulin ISO protein:increased expression:breast RGD PMID:8543395 RGD:2292664 NCBI chr14:17,256,384...17,265,641
Ensembl chr14:17,256,384...17,265,641 		JBrowse link
G Bcl2 BCL2, apoptosis regulator disease_progression ISO RGD PMID:12628841 RGD:2289659 NCBI chr13:23,204,464...23,366,900
Ensembl chr13:23,204,464...23,366,900 		JBrowse link
G Birc5 baculoviral IAP repeat-containing 5 disease_progression ISO protein:increased expression:breast RGD PMID:16421596 RGD:2293106 NCBI chr10:103,567,369...103,580,069
Ensembl chr10:103,572,080...103,582,155 		JBrowse link
G Bnip3 BCL2 interacting protein 3 ISO RGD PMID:14648660 RGD:7483575 NCBI chr 1:203,137,778...203,154,962
Ensembl chr 1:203,137,778...203,154,962 		JBrowse link
G Brca1 BRCA1, DNA repair associated treatment IEP RGD PMID:25861310 RGD:127284854 NCBI chr10:86,917,693...86,978,012
Ensembl chr10:86,917,693...86,977,763 		JBrowse link
G Brca2 BRCA2, DNA repair associated onset
treatment 		ISO
IEP 		DNA:missense mutation: :5972C>T RGD PMID:16280055 PMID:25861310 RGD:2289048, RGD:127284854 NCBI chr12:4,895,092...4,939,340
Ensembl chr12:4,895,447...4,936,194 		JBrowse link
G Ca9 carbonic anhydrase 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20526721 NCBI chr 5:62,559,024...62,565,626
Ensembl chr 5:62,558,823...62,565,626 		JBrowse link
G Casp6 caspase 6 ISO protein:increased expression:breast RGD PMID:10574243 RGD:2301339 NCBI chr 2:221,140,287...221,152,727
Ensembl chr 2:221,140,256...221,152,726 		JBrowse link
G Ccnd1 cyclin D1 ISO protein:decreased expression:breast RGD PMID:14612904 RGD:2289132 NCBI chr 1:209,518,288...209,527,986
Ensembl chr 1:209,518,288...209,527,810 		JBrowse link
G Ccnd2 cyclin D2 ISO DNA:hypermethylation:promoter, breast RGD PMID:14601057 RGD:2289156 NCBI chr 4:161,653,048...161,675,422
Ensembl chr 4:161,653,048...161,680,301
Ensembl chr 4:161,653,048...161,680,301 		JBrowse link
G Cdkn1a cyclin-dependent kinase inhibitor 1A disease_progression ISO protein:increased expression:breast RGD PMID:12628841 RGD:2289659 NCBI chr20:7,150,820...7,161,373
Ensembl chr20:7,153,958...7,164,969 		JBrowse link
G Erbb2 erb-b2 receptor tyrosine kinase 2 disease_progression ISO protein:increased expression:breast RGD PMID:15788662 PMID:17119686 RGD:2289981, RGD:2289931 NCBI chr10:83,907,491...83,931,365
Ensembl chr10:83,907,460...83,931,481 		JBrowse link
G Erbb3 erb-b2 receptor tyrosine kinase 3 ISO RGD PMID:9470844 RGD:2289952 NCBI chr 7:1,579,079...1,600,379
Ensembl chr 7:1,579,816...1,601,120 		JBrowse link
G Erbb4 erb-b2 receptor tyrosine kinase 4 disease_progression ISO RGD PMID:15788662 RGD:2289981 NCBI chr 9:76,973,386...78,045,633
Ensembl chr 9:76,973,227...78,045,772 		JBrowse link
G Flt1 Fms related receptor tyrosine kinase 1 ISO associated with Carcinoma, Ductal, Breast RGD PMID:15841074 RGD:2289965 NCBI chr12:12,333,050...12,504,750
Ensembl chr12:12,333,430...12,504,750 		JBrowse link
G Fosl1 FOS like 1, AP-1 transcription factor subunit ISO mRNA, protein:increased expression:breast RGD PMID:17254320 RGD:2293756 NCBI chr 1:212,183,885...212,192,391
Ensembl chr 1:212,183,833...212,192,391 		JBrowse link
G Hif1a hypoxia inducible factor 1 subunit alpha ISO protein:altered localization:nucleus
CTD Direct Evidence: marker/mechanism 		CTD
RGD		 PMID:20526721 PMID:16080559 RGD:2306227 NCBI chr 6:98,357,788...98,405,068
Ensembl chr 6:98,359,910...98,405,323 		JBrowse link
G Hoxb13 homeo box B13 ISO DNA:hypermethylation RGD PMID:19250546 RGD:2314726 NCBI chr10:81,657,074...81,659,347
Ensembl chr10:81,657,074...81,659,347 		JBrowse link
G Klk10 kallikrein related-peptidase 10 disease_progression ISO mRNA:decreased expression:breast RGD PMID:12788170 RGD:2314849 NCBI chr 1:103,371,638...103,375,918
Ensembl chr 1:103,371,638...103,375,918 		JBrowse link
G Ldhb lactate dehydrogenase B ISO CTD Direct Evidence: marker/mechanism CTD PMID:23437403 NCBI chr 4:177,159,389...177,177,408
Ensembl chr 4:177,159,392...177,177,408 		JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO protein:increased expression:breast RGD PMID:17642161 RGD:2290392 NCBI chr19:30,327,643...30,355,856
Ensembl chr19:30,327,643...30,355,856 		JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO protein:increased expression:breast RGD PMID:14744773 RGD:2290436 NCBI chr 3:174,103,474...174,111,434
Ensembl chr 3:174,084,123...174,111,442 		JBrowse link
G Notch4 notch receptor 4 ISO RGD PMID:17440163 RGD:2299156 NCBI chr20:4,164,969...4,189,072
Ensembl chr20:4,161,730...4,189,072 		JBrowse link
G Pak2 p21 (RAC1) activated kinase 2 ISO RGD PMID:22886747 RGD:7775026 NCBI chr11:82,212,896...82,273,803
Ensembl chr11:82,212,951...82,273,803 		JBrowse link
G Pgr progesterone receptor disease_progression ISO RGD PMID:12628841 RGD:2289659 NCBI chr 8:14,354,398...14,413,271
Ensembl chr 8:14,354,398...14,413,271 		JBrowse link
G Prkca protein kinase C, alpha ISO protein:decreased expression:breast RGD PMID:15454252 RGD:2292458 NCBI chr10:93,388,991...93,787,617
Ensembl chr10:93,388,991...93,787,572 		JBrowse link
G Ptges prostaglandin E synthase ISO protein:increased expression:breast RGD PMID:16353170 RGD:2300083 NCBI chr 3:34,575,643...34,586,987
Ensembl chr 3:34,575,639...34,586,995 		JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 disease_progression ISO mRNA, protein:decreased expression:breast RGD PMID:18199541 PMID:18237383 RGD:2300203, RGD:2300199 NCBI chr13:64,714,063...64,722,320
Ensembl chr13:64,713,619...64,722,320 		JBrowse link
G Ptk2 protein tyrosine kinase 2 ISO protein:increased expression:breast RGD PMID:15564794 RGD:2292561 NCBI chr 7:107,015,730...107,220,865
Ensembl chr 7:107,015,733...107,172,091 		JBrowse link
G Rb1 RB transcriptional corepressor 1 ISO mRNA, protein:decreased expression:breast RGD PMID:15312366 RGD:2299890 NCBI chr15:54,780,858...54,911,989
Ensembl chr15:54,780,858...54,911,857 		JBrowse link
G Rela RELA proto-oncogene, NF-kB subunit ISO DNA:amplification RGD PMID:17375183 RGD:2298754 NCBI chr 1:212,354,336...212,364,815
Ensembl chr 1:212,333,035...212,364,817 		JBrowse link
G Slc2a1 solute carrier family 2 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20526721 NCBI chr 5:138,002,522...138,030,742
Ensembl chr 5:138,002,522...138,030,742 		JBrowse link
G Socs1 suppressor of cytokine signaling 1 ISO mRNA:increased expression:breast RGD PMID:12888825 RGD:2298909 NCBI chr10:5,389,574...5,391,265
Ensembl chr10:5,389,334...5,391,847 		JBrowse link
G Socs2 suppressor of cytokine signaling 2 ISO mRNA:increased expression:breast RGD PMID:12888825 RGD:2298909 NCBI chr 7:31,890,564...31,932,092
Ensembl chr 7:31,874,463...31,930,423 		JBrowse link
G Socs3 suppressor of cytokine signaling 3 ISO mRNA:increased expression:breast RGD PMID:12888825 RGD:2298909 NCBI chr10:103,692,579...103,695,975
Ensembl chr10:103,690,976...103,704,825 		JBrowse link
G Src SRC proto-oncogene, non-receptor tyrosine kinase severity ISO protein:increased activity:breast RGD PMID:17060931 RGD:2315078 NCBI chr 3:166,511,616...166,559,463
Ensembl chr 3:166,511,985...166,559,462 		JBrowse link
G St14 ST14 transmembrane serine protease matriptase ISO protein:increased expression:breast RGD PMID:17163404 RGD:2315089 NCBI chr 8:37,798,994...37,839,881
Ensembl chr 8:37,798,995...37,855,652 		JBrowse link
G Stat5a signal transducer and activator of transcription 5A ISO protein:altered localization:nucleus
CTD Direct Evidence: marker/mechanism
protein:decreased expression:breast 		CTD
RGD		 PMID:15609129 PMID:15609129 PMID:16133357 RGD:2291932, RGD:2291930 NCBI chr10:86,285,859...86,310,187
Ensembl chr10:86,285,547...86,310,184 		JBrowse link
G Tert telomerase reverse transcriptase ISO mRNA:decreased expression:breast RGD PMID:15010825 RGD:2291992 NCBI chr 1:31,465,766...31,488,650
Ensembl chr 1:31,466,056...31,488,111 		JBrowse link
G Tff1 trefoil factor 1 ISO RGD PMID:15375487 RGD:2292005 NCBI chr20:9,237,095...9,240,956
Ensembl chr20:9,237,095...9,240,956 		JBrowse link
G Timp2 TIMP metallopeptidase inhibitor 2 ISO protein:increased expression:breast RGD PMID:14744773 RGD:2290436 NCBI chr10:104,041,604...104,089,214
Ensembl chr10:104,041,604...104,089,214 		JBrowse link
G Timp4 TIMP metallopeptidase inhibitor 4 ISO protein:increased expression:breast RGD PMID:14744773 RGD:2290436 NCBI chr 4:149,978,667...149,985,350
Ensembl chr 4:149,978,685...149,985,452 		JBrowse link
G Top2a DNA topoisomerase II alpha severity ISO protein:increased expression:breast RGD PMID:11070118 RGD:2315133 NCBI chr10:84,441,954...84,473,093
Ensembl chr10:84,441,954...84,473,366 		JBrowse link
G Tp53 tumor protein p53 ISO protein:increased expression:breast
ClinVar Annotator: match by term: Ductal breast carcinoma in situ 		ClinVar
RGD		 PMID:1565143 PMID:1683921 PMID:1978757 PMID:7887414 PMID:8023157 More... RGD:2289931 NCBI chr10:54,798,871...54,810,300
Ensembl chr10:54,798,851...54,810,299 		JBrowse link
G Tymp thymidine phosphorylase ISO RGD PMID:9306962 RGD:2293726 NCBI chr 7:122,318,396...122,323,716
Ensembl chr 7:122,316,520...122,324,003 		JBrowse link
G Vegfa vascular endothelial growth factor A ISO protein:increased expression:breast RGD PMID:19623180 RGD:2315458 NCBI chr 9:22,452,854...22,468,194
Ensembl chr 9:22,439,392...22,468,194 		JBrowse link
mammary Paget's disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Erbb2 erb-b2 receptor tyrosine kinase 2 ISO DNA:amplification RGD PMID:16932067 RGD:2289933 NCBI chr10:83,907,491...83,931,365
Ensembl chr10:83,907,460...83,931,481 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19154
    disease of cellular proliferation 7901
      pre-malignant neoplasm 311
        in situ carcinoma 143
          breast carcinoma in situ 51
            ductal carcinoma in situ 50
              comedo carcinoma 0
              mammary Paget's disease 1
Path 2
Term Annotations click to browse term
  disease 19154
    disease of anatomical entity 18461
      nervous system disease 14368
        Neurologic Manifestations 10443
          sensory system disease 7347
            skin disease 4339
              breast disease 1564
                Breast Neoplasms 1551
                  breast cancer 914
                    breast carcinoma 300
                      breast carcinoma in situ 51
                        ductal carcinoma in situ 50
                          comedo carcinoma 0
                          mammary Paget's disease 1
paths to the root