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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:breast carcinoma in situ
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Accession:DOID:8791 term browser browse the term
Definition:An in situ carcinoma that is located_in the breast. (DO)
Synonyms:exact_synonym: carcinoma in situ of breast;   non-infiltrating carcinoma of breast
 narrow_synonym: Ductal Breast Carcinoma In Situ and Lobular Carcinoma In Situ
 primary_id: MESH:D000071960
 xref: EFO:1000221;   ICD10CM:D05;   ICD9CM:233.0
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
breast carcinoma in situ term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Igf2r insulin-like growth factor 2 receptor ISO DNA:loss of heterozygosity RGD PMID:8649861 RGD:2311631 NCBI chr 1:47,979,109...48,067,501
Ensembl chr 1:47,979,109...48,067,501 		JBrowse link
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 chr17:66,110,970...66,127,867
Ensembl chr17:66,110,963...66,127,873 		JBrowse link
G Ang angiogenin ISO protein:increased expression:breast RGD PMID:15776477 RGD:2325702 NCBI chr15:24,312,711...24,323,361 JBrowse link
G Anxa1 annexin A1 ISO protein:decreased expression:mammary gland RGD PMID:22323911 RGD:7421537 NCBI chr 1:217,861,175...217,877,205
Ensembl chr 1:217,861,175...217,877,343 		JBrowse link
G Ar androgen receptor ISO RGD PMID:17543076 RGD:1643341 NCBI chr  X:63,104,771...63,273,934
Ensembl chr  X:63,104,771...63,273,925 		JBrowse link
G Areg amphiregulin ISO protein:increased expression:breast RGD PMID:8543395 RGD:2292664 NCBI chr14:16,972,185...16,981,443
Ensembl chr14:16,972,187...16,981,535 		JBrowse link
G Bcl2 BCL2, apoptosis regulator disease_progression ISO RGD PMID:12628841 RGD:2289659 NCBI chr13:22,689,783...22,853,920
Ensembl chr13:22,684,989...22,853,743
Ensembl chr13:22,684,989...22,853,743 		JBrowse link
G Birc5 baculoviral IAP repeat-containing 5 disease_progression ISO protein:increased expression:breast RGD PMID:16421596 RGD:2293106 NCBI chr10:103,072,530...103,081,382
Ensembl chr10:103,073,408...103,081,380 		JBrowse link
G Bnip3 BCL2 interacting protein 3 ISO RGD PMID:14648660 RGD:7483575 NCBI chr 1:193,708,164...193,725,348
Ensembl chr 1:193,708,167...193,725,359 		JBrowse link
G Brca1 BRCA1, DNA repair associated treatment IEP RGD PMID:25861310 RGD:127284854 NCBI chr10:86,417,441...86,477,762
Ensembl chr10:86,418,000...86,477,304 		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 chr12:59,492...103,789
Ensembl chr12:59,819...100,567 		JBrowse link
G Car9 carbonic anhydrase 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20526721 NCBI chr 5:57,763,234...57,769,838
Ensembl chr 5:57,763,206...57,769,838 		JBrowse link
G Casp6 caspase 6 ISO protein:increased expression:breast RGD PMID:10574243 RGD:2301339 NCBI chr 2:218,466,063...218,478,503
Ensembl chr 2:218,466,076...218,478,502 		JBrowse link
G Ccnd1 cyclin D1 ISO protein:decreased expression:breast RGD PMID:14612904 RGD:2289132 NCBI chr 1:200,089,002...200,098,524
Ensembl chr 1:200,089,002...200,098,602 		JBrowse link
G Ccnd2 cyclin D2 ISO DNA:hypermethylation:promoter, breast RGD PMID:14601057 RGD:2289156 NCBI chr 4:159,966,883...159,989,261
Ensembl chr 4:159,962,363...159,989,495 		JBrowse link
G Cdkn1a cyclin-dependent kinase inhibitor 1A disease_progression ISO protein:increased expression:breast RGD PMID:12628841 RGD:2289659 NCBI chr20:7,149,177...7,159,727
Ensembl chr20:7,149,217...7,159,585 		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 chr10:83,411,197...83,435,078
Ensembl chr10:83,411,313...83,435,078 		JBrowse link
G Erbb3 erb-b2 receptor tyrosine kinase 3 ISO RGD PMID:9470844 RGD:2289952 NCBI chr 7:994,549...1,015,876
Ensembl chr 7:996,225...1,015,525 		JBrowse link
G Erbb4 erb-b2 receptor tyrosine kinase 4 disease_progression ISO RGD PMID:15788662 RGD:2289981 NCBI chr 9:69,523,733...70,596,743
Ensembl chr 9:69,531,481...70,596,595 		JBrowse link
G Flt1 Fms related receptor tyrosine kinase 1 ISO associated with Carcinoma, Ductal, Breast RGD PMID:15841074 RGD:2289965 NCBI chr12:7,296,899...7,468,626
Ensembl chr12:7,297,292...7,468,626 		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 1:202,754,549...202,763,057
Ensembl chr 1:202,754,529...202,764,930 		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 6:92,624,059...92,669,262
Ensembl chr 6:92,624,390...92,669,261 		JBrowse link
G Hoxb13 homeo box B13 ISO DNA:hypermethylation RGD PMID:19250546 RGD:2314726 NCBI chr10:81,160,498...81,162,777
Ensembl chr10:81,160,498...81,162,777 		JBrowse link
G Klk10 kallikrein related-peptidase 10 disease_progression ISO mRNA:decreased expression:breast RGD PMID:12788170 RGD:2314849 NCBI chr 1:94,234,536...94,239,369
Ensembl chr 1:94,235,096...94,239,376 		JBrowse link
G Ldhb lactate dehydrogenase B ISO CTD Direct Evidence: marker/mechanism CTD PMID:23437403 NCBI chr 4:175,428,382...175,446,403
Ensembl chr 4:175,428,385...175,446,403 		JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO protein:increased expression:breast RGD PMID:17642161 RGD:2290392 NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870 		JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO protein:increased expression:breast RGD PMID:14744773 RGD:2290436 NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120 		JBrowse link
G Notch4 notch receptor 4 ISO RGD PMID:17440163 RGD:2299156 NCBI chr20:4,160,362...4,184,466
Ensembl chr20:4,160,445...4,184,465 		JBrowse link
G Pak2 p21 (RAC1) activated kinase 2 ISO RGD PMID:22886747 RGD:7775026 NCBI chr11:68,707,940...68,768,816
Ensembl chr11:68,707,969...68,768,816 		JBrowse link
G Pgr progesterone receptor disease_progression ISO RGD PMID:12628841 RGD:2289659 NCBI chr 8:6,072,673...6,131,552
Ensembl chr 8:6,072,673...6,131,344 		JBrowse link
G Prkca protein kinase C, alpha ISO protein:decreased expression:breast RGD PMID:15454252 RGD:2292458 NCBI chr10:92,889,390...93,288,013
Ensembl chr10:92,894,012...93,288,012 		JBrowse link
G Ptges prostaglandin E synthase ISO protein:increased expression:breast RGD PMID:16353170 RGD:2300083 NCBI chr 3:14,177,892...14,189,236 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 chr13:62,163,936...62,172,193
Ensembl chr13:62,163,932...62,172,188 		JBrowse link
G Ptk2 protein tyrosine kinase 2 ISO protein:increased expression:breast RGD PMID:15564794 RGD:2292561 NCBI chr 7:105,126,725...105,331,848
Ensembl chr 7:105,126,728...105,331,783 		JBrowse link
G Rb1 RB transcriptional corepressor 1 ISO mRNA, protein:decreased expression:breast RGD PMID:15312366 RGD:2299890 NCBI chr15:48,371,295...48,502,473
Ensembl chr15:48,371,296...48,502,302 		JBrowse link
G Rela RELA proto-oncogene, NF-kB subunit ISO DNA:amplification RGD PMID:17375183 RGD:2298754 NCBI chr 1:202,925,001...202,935,484
Ensembl chr 1:202,924,945...202,935,484 		JBrowse link
G Slc2a1 solute carrier family 2 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20526721 NCBI chr 5:132,717,196...132,745,416
Ensembl chr 5:132,717,196...132,745,416 		JBrowse link
G Socs1 suppressor of cytokine signaling 1 ISO mRNA:increased expression:breast RGD PMID:12888825 RGD:2298909 NCBI chr10:4,882,651...4,884,342
Ensembl chr10:4,882,560...4,884,383 		JBrowse link
G Socs2 suppressor of cytokine signaling 2 ISO mRNA:increased expression:breast RGD PMID:12888825 RGD:2298909 NCBI chr 7:30,006,360...30,045,161
Ensembl chr 7:30,008,578...30,043,548 		JBrowse link
G Socs3 suppressor of cytokine signaling 3 ISO mRNA:increased expression:breast RGD PMID:12888825 RGD:2298909 NCBI chr10:103,193,909...103,197,322
Ensembl chr10:103,193,537...103,197,787 		JBrowse link
G Src SRC proto-oncogene, non-receptor tyrosine kinase severity ISO protein:increased activity:breast RGD PMID:17060931 RGD:2315078 NCBI chr 3:146,091,969...146,139,492
Ensembl chr 3:146,091,841...146,139,476 		JBrowse link
G St14 ST14 transmembrane serine protease matriptase ISO protein:increased expression:breast RGD PMID:17163404 RGD:2315089 NCBI chr 8:29,540,805...29,581,704
Ensembl chr 8:29,540,811...29,581,517 		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 chr10:85,785,537...85,809,869
Ensembl chr10:85,785,537...85,809,866 		JBrowse link
G Tert telomerase reverse transcriptase ISO mRNA:decreased expression:breast RGD PMID:15010825 RGD:2291992 NCBI chr 1:29,637,213...29,659,561
Ensembl chr 1:29,637,506...29,659,561 		JBrowse link
G Tff1 trefoil factor 1 ISO RGD PMID:15375487 RGD:2292005 NCBI chr20:9,235,736...9,239,597
Ensembl chr20:9,235,736...9,239,597 		JBrowse link
G Timp2 TIMP metallopeptidase inhibitor 2 ISO protein:increased expression:breast RGD PMID:14744773 RGD:2290436 NCBI chr10:103,541,199...103,590,611
Ensembl chr10:103,531,505...103,590,611 		JBrowse link
G Timp4 TIMP metallopeptidase inhibitor 4 ISO protein:increased expression:breast RGD PMID:14744773 RGD:2290436 NCBI chr 4:148,306,021...148,312,558
Ensembl chr 4:148,304,490...148,312,558 		JBrowse link
G Top2a DNA topoisomerase II alpha severity ISO protein:increased expression:breast RGD PMID:11070118 RGD:2315133 NCBI chr10:83,945,731...83,976,874
Ensembl chr10:83,945,735...83,976,874 		JBrowse link
G Tp53 tumor protein p53 ISO protein:increased expression:breast
ClinVar Annotator: match by term: Ductal carcinoma in situ		 ClinVar
RGD		 PMID:1565143 PMID:1683921 PMID:1978757 PMID:7887414 PMID:8023157 More... RGD:2289931 NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524 		JBrowse link
G Tymp thymidine phosphorylase ISO RGD PMID:9306962 RGD:2293726 NCBI chr 7:120,438,768...120,444,088
Ensembl chr 7:120,438,770...120,443,874
Ensembl chr 7:120,438,770...120,443,874 		JBrowse link
G Vegfa vascular endothelial growth factor A ISO protein:increased expression:breast RGD PMID:19623180 RGD:2315458 NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641 		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 chr10:83,411,197...83,435,078
Ensembl chr10:83,411,313...83,435,078 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    disease of cellular proliferation 7692
      pre-malignant neoplasm 309
        in situ carcinoma 145
          breast carcinoma in situ 51
            breast apocrine carcinoma in situ 0
            ductal carcinoma in situ + 50
            lobular neoplasia 0
            mammary Paget's disease 1
Path 2
Term Annotations click to browse term
  disease 18969
    Pathological Conditions, Signs and Symptoms 13343
      Signs and Symptoms 10819
        Neurologic Manifestations 10053
          sensory system disease 6962
            skin disease 3969
              breast disease 1386
                Breast Neoplasms 1376
                  breast cancer 721
                    breast carcinoma 298
                      breast carcinoma in situ 51
                        breast apocrine carcinoma in situ 0
                        ductal carcinoma in situ + 50
                        lobular neoplasia 0
                        mammary Paget's disease 1
paths to the root