Human Phenotype Ontology 
Grandparent Node:
expand
Abnormal breast morphology (HP:0031093)help
Grandparent Node:
expand
Neoplasm by anatomical site (HP:0011793)help
Parent Node:
expand
Neoplasm of the breast (HP:0100013)help
..Starting node
..expand
Breast carcinoma (HP:0003002)help
Term ID: 3002
Name: Breast carcinoma
Synonym: Breast cancer
Definition: The presence of a carcinoma of the breast.
Comments:
Reference: HP:0003002
Genes and Diseases:
 
       Child Nodes:
........expandMultifocal breast carcinoma (HP:0006625) help

 Sister Nodes: 
..expandDuctal carcinoma in situ (HP:0030075) help
..expandFibroadenoma of the breast (HP:0010619) help
..expandLobular carcinoma in situ (HP:0030076) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0003002HP:0003002Breast carcinoma0AAGAB CL E G H7971979501ORPHA14225662614888
HP:0003002HP:0003002Breast carcinoma0AKT1 CL E G H207201ORPHA112391164730
HP:0003002HP:0003002Breast carcinoma0AKT1 CL E G H207615109Cowden syndrome 6615109C3554519OMIM112391164730
HP:0003002HP:0003002Breast carcinoma0AKT1 CL E G H207114480Familial cancer of breast114480C0346153OMIM112391164730
HP:0003002HP:0003002Breast carcinoma0AKT1 CL E G H207167000Neoplasm of ovary167000C0919267OMIM112391164730
HP:0003002HP:0003002Breast carcinoma0BARD1 CL E G H580145Hereditary breast and ovarian cancer syndromeC0677776ORPHA1125952601593
HP:0003002HP:0003002Breast carcinoma0BRCA1 CL E G H672114480Familial cancer of breast114480C0346153OMIM128241100113705
HP:0003002HP:0003002Breast carcinoma0BRCA1 CL E G H672617883FANCONI ANEMIA, COMPLEMENTATION GROUP S617883CN850168OMIM128241100113705
HP:0003002HP:0003002Breast carcinoma0BRCA1 CL E G H672145Hereditary breast and ovarian cancer syndromeC0677776ORPHA128241100113705
HP:0003002HP:0003002Breast carcinoma0BRCA2 CL E G H675145Hereditary breast and ovarian cancer syndromeC0677776ORPHA130251101600185
HP:0003002HP:0003002Breast carcinoma0BRIP1 CL E G H83990145Hereditary breast and ovarian cancer syndromeC0677776ORPHA120220473605882
HP:0003002HP:0003002Breast carcinoma0CDH1 CL E G H999167000Neoplasm of ovary167000C0919267OMIM12641748192090
HP:0003002HP:0003002Breast carcinoma0CDKN2A CL E G H1029524Acute megakaryoblastic leukemiaC0023462ORPHA12431787600160
HP:0003002HP:0003002Breast carcinoma0CHEK2 CL E G H11200524Acute megakaryoblastic leukemiaC0023462ORPHA121316627604373
HP:0003002HP:0003002Breast carcinoma0CHEK2 CL E G H11200145Hereditary breast and ovarian cancer syndromeC0677776ORPHA121316627604373
HP:0003002HP:0003002Breast carcinoma0CHEK2 CL E G H11200609265Li-Fraumeni syndrome 2609265C1836482OMIM121316627604373
HP:0003002HP:0003002Breast carcinoma0COL14A1 CL E G H737379501ORPHA112191120324
HP:0003002HP:0003002Breast carcinoma0CTNNB1 CL E G H1499167000Neoplasm of ovary167000C0919267OMIM1542514116806
HP:0003002HP:0003002Breast carcinoma0ESR1 CL E G H2099114480Familial cancer of breast114480C0346153OMIM1383467133430
HP:0003002HP:0003002Breast carcinoma0FGFR2 CL E G H2263101400Saethre-Chotzen syndrome101400C0175699OMIM11593689176943
HP:0003002HP:0003002Breast carcinoma0KLLN CL E G H100144748201ORPHA1837212612105
HP:0003002HP:0003002Breast carcinoma0KRAS CL E G H3845114480Familial cancer of breast114480C0346153OMIM1456407190070
HP:0003002HP:0003002Breast carcinoma0MDM2 CL E G H4193524Acute megakaryoblastic leukemiaC0023462ORPHA186973164785
HP:0003002HP:0003002Breast carcinoma0MLH1 CL E G H4292158320Muir-Torré syndrome158320C1321489OMIM112037127120436
HP:0003002HP:0003002Breast carcinoma0MRE11 CL E G H4361145Hereditary breast and ovarian cancer syndromeC0677776ORPHA1577230600814
HP:0003002HP:0003002Breast carcinoma0MSH2 CL E G H4436158320Muir-Torré syndrome158320C1321489OMIM112647325609309
HP:0003002HP:0003002Breast carcinoma0NBN CL E G H4683145Hereditary breast and ovarian cancer syndromeC0677776ORPHA11487652602667
HP:0003002HP:0003002Breast carcinoma0NTHL1 CL E G H4913454840ORPHA148028602656
HP:0003002HP:0003002Breast carcinoma0NTHL1 CL E G H4913616415Familial adenomatous polyposis 3616415C4225157OMIM148028602656
HP:0003002HP:0003002Breast carcinoma0OPCML CL E G H4978167000Neoplasm of ovary167000C0919267OMIM118143600632
HP:0003002HP:0003002Breast carcinoma0PALB2 CL E G H79728145Hereditary breast and ovarian cancer syndromeC0677776ORPHA141726144610355
HP:0003002HP:0003002Breast carcinoma0PIK3CA CL E G H5290201ORPHA1578975171834
HP:0003002HP:0003002Breast carcinoma0PIK3CA CL E G H5290615108Cowden syndrome 5615108C3554518OMIM1578975171834
HP:0003002HP:0003002Breast carcinoma0PIK3CA CL E G H5290114480Familial cancer of breast114480C0346153OMIM1578975171834
HP:0003002HP:0003002Breast carcinoma0PIK3CA CL E G H5290167000Neoplasm of ovary167000C0919267OMIM1578975171834
HP:0003002HP:0003002Breast carcinoma0PPM1D CL E G H8493114480Familial cancer of breast114480C0346153OMIM1639277605100
HP:0003002HP:0003002Breast carcinoma0PRKN CL E G H5071167000Neoplasm of ovary167000C0919267OMIM14418607602544
HP:0003002HP:0003002Breast carcinoma0PTEN CL E G H5728201ORPHA16589588601728
HP:0003002HP:0003002Breast carcinoma0PTEN CL E G H5728158350Cowden syndrome 1158350CN072330OMIM16589588601728
HP:0003002HP:0003002Breast carcinoma0PTEN CL E G H5728145Hereditary breast and ovarian cancer syndromeC0677776ORPHA16589588601728
HP:0003002HP:0003002Breast carcinoma0RAD50 CL E G H10111145Hereditary breast and ovarian cancer syndromeC0677776ORPHA1959816604040
HP:0003002HP:0003002Breast carcinoma0RAD51 CL E G H5888145Hereditary breast and ovarian cancer syndromeC0677776ORPHA1169817179617
HP:0003002HP:0003002Breast carcinoma0RAD51C CL E G H5889145Hereditary breast and ovarian cancer syndromeC0677776ORPHA11319820602774
HP:0003002HP:0003002Breast carcinoma0RAD51D CL E G H5892145Hereditary breast and ovarian cancer syndromeC0677776ORPHA1869823602954
HP:0003002HP:0003002Breast carcinoma0RB1CC1 CL E G H9821114480Familial cancer of breast114480C0346153OMIM1415574606837
HP:0003002HP:0003002Breast carcinoma0SDHB CL E G H6390201ORPHA127910681185470
HP:0003002HP:0003002Breast carcinoma0SDHC CL E G H6391201ORPHA16210682602413
HP:0003002HP:0003002Breast carcinoma0SDHD CL E G H6392201ORPHA117410683602690
HP:0003002HP:0003002Breast carcinoma0SEC23B CL E G H10483201ORPHA112610702610512
HP:0003002HP:0003002Breast carcinoma0SEC23B CL E G H10483616858616858616858OMIM112610702610512
HP:0003002HP:0003002Breast carcinoma0SLC22A18 CL E G H5002114480Familial cancer of breast114480C0346153OMIM1110964602631
HP:0003002HP:0003002Breast carcinoma0STK11 CL E G H6794175200Peutz-Jeghers syndrome175200C0031269OMIM146611389602216
HP:0003002HP:0003002Breast carcinoma0TP53 CL E G H7157524Acute megakaryoblastic leukemiaC0023462ORPHA154111998191170
HP:0003002HP:0003002Breast carcinoma0TP53 CL E G H7157114480Familial cancer of breast114480C0346153OMIM154111998191170
HP:0003002HP:0003002Breast carcinoma0TP53 CL E G H7157145Hereditary breast and ovarian cancer syndromeC0677776ORPHA154111998191170
HP:0003002HP:0003002Breast carcinoma0TP53 CL E G H7157151623Li-Fraumeni syndrome 1151623C1835398OMIM154111998191170
HP:0003002HP:0003002Breast carcinoma0TWIST1 CL E G H7291101400Saethre-Chotzen syndrome101400C0175699OMIM120912428601622
HP:0003002HP:0003002Breast carcinoma1AAGAB CL E G H7971979501ORPHA14225662614888
HP:0003002HP:0003002Breast carcinoma1AKT1 CL E G H207201ORPHA112391164730
HP:0003002HP:0003002Breast carcinoma1AKT1 CL E G H207615109Cowden syndrome 6615109C3554519OMIM112391164730
HP:0003002HP:0003002Breast carcinoma1AKT1 CL E G H207114480Familial cancer of breast114480C0346153OMIM112391164730
HP:0003002HP:0003002Breast carcinoma1AKT1 CL E G H207167000Neoplasm of ovary167000C0919267OMIM112391164730
HP:0003002HP:0003002Breast carcinoma1BARD1 CL E G H580145Hereditary breast and ovarian cancer syndromeC0677776ORPHA1125952601593
HP:0003002HP:0003002Breast carcinoma1BRCA1 CL E G H672114480Familial cancer of breast114480C0346153OMIM128241100113705
HP:0003002HP:0003002Breast carcinoma1BRCA1 CL E G H672617883FANCONI ANEMIA, COMPLEMENTATION GROUP S617883CN850168OMIM128241100113705
HP:0003002HP:0003002Breast carcinoma1BRCA1 CL E G H672145Hereditary breast and ovarian cancer syndromeC0677776ORPHA128241100113705
HP:0003002HP:0003002Breast carcinoma1BRCA2 CL E G H675145Hereditary breast and ovarian cancer syndromeC0677776ORPHA130251101600185
HP:0003002HP:0003002Breast carcinoma1BRIP1 CL E G H83990145Hereditary breast and ovarian cancer syndromeC0677776ORPHA120220473605882
HP:0003002HP:0003002Breast carcinoma1CDH1 CL E G H999167000Neoplasm of ovary167000C0919267OMIM12641748192090
HP:0003002HP:0003002Breast carcinoma1CDKN2A CL E G H1029524Acute megakaryoblastic leukemiaC0023462ORPHA12431787600160
HP:0003002HP:0003002Breast carcinoma1CHEK2 CL E G H11200524Acute megakaryoblastic leukemiaC0023462ORPHA121316627604373
HP:0003002HP:0003002Breast carcinoma1CHEK2 CL E G H11200145Hereditary breast and ovarian cancer syndromeC0677776ORPHA121316627604373
HP:0003002HP:0003002Breast carcinoma1CHEK2 CL E G H11200609265Li-Fraumeni syndrome 2609265C1836482OMIM121316627604373
HP:0003002HP:0003002Breast carcinoma1COL14A1 CL E G H737379501ORPHA112191120324
HP:0003002HP:0003002Breast carcinoma1CTNNB1 CL E G H1499167000Neoplasm of ovary167000C0919267OMIM1542514116806
HP:0003002HP:0003002Breast carcinoma1ESR1 CL E G H2099114480Familial cancer of breast114480C0346153OMIM1383467133430
HP:0003002HP:0003002Breast carcinoma1FGFR2 CL E G H2263101400Saethre-Chotzen syndrome101400C0175699OMIM11593689176943
HP:0003002HP:0003002Breast carcinoma1KLLN CL E G H100144748201ORPHA1837212612105
HP:0003002HP:0003002Breast carcinoma1KRAS CL E G H3845114480Familial cancer of breast114480C0346153OMIM1456407190070
HP:0003002HP:0003002Breast carcinoma1MDM2 CL E G H4193524Acute megakaryoblastic leukemiaC0023462ORPHA186973164785
HP:0003002HP:0003002Breast carcinoma1MLH1 CL E G H4292158320Muir-Torré syndrome158320C1321489OMIM112037127120436
HP:0003002HP:0003002Breast carcinoma1MRE11 CL E G H4361145Hereditary breast and ovarian cancer syndromeC0677776ORPHA1577230600814
HP:0003002HP:0003002Breast carcinoma1MSH2 CL E G H4436158320Muir-Torré syndrome158320C1321489OMIM112647325609309
HP:0003002HP:0003002Breast carcinoma1NBN CL E G H4683145Hereditary breast and ovarian cancer syndromeC0677776ORPHA11487652602667
HP:0003002HP:0003002Breast carcinoma1NTHL1 CL E G H4913454840ORPHA148028602656
HP:0003002HP:0003002Breast carcinoma1NTHL1 CL E G H4913616415Familial adenomatous polyposis 3616415C4225157OMIM148028602656
HP:0003002HP:0003002Breast carcinoma1OPCML CL E G H4978167000Neoplasm of ovary167000C0919267OMIM118143600632
HP:0003002HP:0003002Breast carcinoma1PALB2 CL E G H79728145Hereditary breast and ovarian cancer syndromeC0677776ORPHA141726144610355
HP:0003002HP:0003002Breast carcinoma1PIK3CA CL E G H5290201ORPHA1578975171834
HP:0003002HP:0003002Breast carcinoma1PIK3CA CL E G H5290615108Cowden syndrome 5615108C3554518OMIM1578975171834
HP:0003002HP:0003002Breast carcinoma1PIK3CA CL E G H5290114480Familial cancer of breast114480C0346153OMIM1578975171834
HP:0003002HP:0003002Breast carcinoma1PIK3CA CL E G H5290167000Neoplasm of ovary167000C0919267OMIM1578975171834
HP:0003002HP:0003002Breast carcinoma1PPM1D CL E G H8493114480Familial cancer of breast114480C0346153OMIM1639277605100
HP:0003002HP:0003002Breast carcinoma1PRKN CL E G H5071167000Neoplasm of ovary167000C0919267OMIM14418607602544
HP:0003002HP:0003002Breast carcinoma1PTEN CL E G H5728201ORPHA16589588601728
HP:0003002HP:0003002Breast carcinoma1PTEN CL E G H5728158350Cowden syndrome 1158350CN072330OMIM16589588601728
HP:0003002HP:0003002Breast carcinoma1PTEN CL E G H5728145Hereditary breast and ovarian cancer syndromeC0677776ORPHA16589588601728
HP:0003002HP:0003002Breast carcinoma1RAD50 CL E G H10111145Hereditary breast and ovarian cancer syndromeC0677776ORPHA1959816604040
HP:0003002HP:0003002Breast carcinoma1RAD51 CL E G H5888145Hereditary breast and ovarian cancer syndromeC0677776ORPHA1169817179617
HP:0003002HP:0003002Breast carcinoma1RAD51C CL E G H5889145Hereditary breast and ovarian cancer syndromeC0677776ORPHA11319820602774
HP:0003002HP:0003002Breast carcinoma1RAD51D CL E G H5892145Hereditary breast and ovarian cancer syndromeC0677776ORPHA1869823602954
HP:0003002HP:0003002Breast carcinoma1RB1CC1 CL E G H9821114480Familial cancer of breast114480C0346153OMIM1415574606837
HP:0003002HP:0003002Breast carcinoma1SDHB CL E G H6390201ORPHA127910681185470
HP:0003002HP:0003002Breast carcinoma1SDHC CL E G H6391201ORPHA16210682602413
HP:0003002HP:0003002Breast carcinoma1SDHD CL E G H6392201ORPHA117410683602690
HP:0003002HP:0003002Breast carcinoma1SEC23B CL E G H10483201ORPHA112610702610512
HP:0003002HP:0003002Breast carcinoma1SEC23B CL E G H10483616858616858616858OMIM112610702610512
HP:0003002HP:0003002Breast carcinoma1SLC22A18 CL E G H5002114480Familial cancer of breast114480C0346153OMIM1110964602631
HP:0003002HP:0003002Breast carcinoma1STK11 CL E G H6794175200Peutz-Jeghers syndrome175200C0031269OMIM146611389602216
HP:0003002HP:0003002Breast carcinoma1TP53 CL E G H7157524Acute megakaryoblastic leukemiaC0023462ORPHA154111998191170
HP:0003002HP:0003002Breast carcinoma1TP53 CL E G H7157114480Familial cancer of breast114480C0346153OMIM154111998191170
HP:0003002HP:0003002Breast carcinoma1TP53 CL E G H7157145Hereditary breast and ovarian cancer syndromeC0677776ORPHA154111998191170
HP:0003002HP:0003002Breast carcinoma1TP53 CL E G H7157151623Li-Fraumeni syndrome 1151623C1835398OMIM154111998191170
HP:0003002HP:0003002Breast carcinoma1TWIST1 CL E G H7291101400Saethre-Chotzen syndrome101400C0175699OMIM120912428601622
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0003002HP:0003002Breast carcinoma0APC CL E G H32479665ORPHA01951583611731
HP:0003002HP:0003002Breast carcinoma0APC CL E G H324247806ORPHA01951583611731
HP:0003002HP:0003002Breast carcinoma0ATR CL E G H545614564Cutaneous telangiectasia and cancer syndrome, familial614564C3281203OMIM034882601215
HP:0003002HP:0003002Breast carcinoma0BRCA1 CL E G H6721333Chromosome 19, ringCN036553ORPHA028241100113705
HP:0003002HP:0003002Breast carcinoma0BRCA2 CL E G H6751333Chromosome 19, ringCN036553ORPHA030251101600185
HP:0003002HP:0003002Breast carcinoma0CDKN2A CL E G H10291333Chromosome 19, ringCN036553ORPHA02431787600160
HP:0003002HP:0003002Breast carcinoma0IDH1 CL E G H3417163634ORPHA055382147700
HP:0003002HP:0003002Breast carcinoma0IDH2 CL E G H3418163634ORPHA075383147650
HP:0003002HP:0003002Breast carcinoma0KRAS CL E G H38451333Chromosome 19, ringCN036553ORPHA0456407190070
HP:0003002HP:0003002Breast carcinoma0MLH1 CL E G H4292587Al Gazali Sabrinathan Nair syndromeORPHA012037127120436
HP:0003002HP:0003002Breast carcinoma0MSH2 CL E G H4436587Al Gazali Sabrinathan Nair syndromeORPHA012647325609309
HP:0003002HP:0003002Breast carcinoma0MSH6 CL E G H2956587Al Gazali Sabrinathan Nair syndromeORPHA06027329600678
HP:0003002HP:0003002Breast carcinoma0PALB2 CL E G H797281333Chromosome 19, ringCN036553ORPHA041726144610355
HP:0003002HP:0003002Breast carcinoma0PALLD CL E G H230221333Chromosome 19, ringCN036553ORPHA0417068608092
HP:0003002HP:0003002Breast carcinoma0POLD1 CL E G H5424447877ORPHA0329175174761
HP:0003002HP:0003002Breast carcinoma0POLE CL E G H5426447877ORPHA0759177174762
HP:0003002HP:0003002Breast carcinoma0RNF43 CL E G H54894157798ORPHA01218505612482
HP:0003002HP:0003002Breast carcinoma0SMAD4 CL E G H40891333Chromosome 19, ringCN036553ORPHA01476770600993
HP:0003002HP:0003002Breast carcinoma0STK11 CL E G H67942869Hypertrophic osteoarthropathy, primary or idiopathicORPHA046611389602216
HP:0003002HP:0003002Breast carcinoma0TP53 CL E G H71571333Chromosome 19, ringCN036553ORPHA054111998191170
HP:0003002HP:0003002Breast carcinoma0WRN CL E G H7486902Blepharo naso facial syndrome Van maldergem typeORPHA011512791604611
HP:0003002HP:0003002Breast carcinoma1APC CL E G H32479665ORPHA01951583611731
HP:0003002HP:0003002Breast carcinoma1APC CL E G H324247806ORPHA01951583611731
HP:0003002HP:0003002Breast carcinoma1ATR CL E G H545614564Cutaneous telangiectasia and cancer syndrome, familial614564C3281203OMIM034882601215
HP:0003002HP:0003002Breast carcinoma1BRCA1 CL E G H6721333Chromosome 19, ringCN036553ORPHA028241100113705
HP:0003002HP:0003002Breast carcinoma1BRCA2 CL E G H6751333Chromosome 19, ringCN036553ORPHA030251101600185
HP:0003002HP:0003002Breast carcinoma1CDKN2A CL E G H10291333Chromosome 19, ringCN036553ORPHA02431787600160
HP:0003002HP:0003002Breast carcinoma1IDH1 CL E G H3417163634ORPHA055382147700
HP:0003002HP:0003002Breast carcinoma1IDH2 CL E G H3418163634ORPHA075383147650
HP:0003002HP:0003002Breast carcinoma1KRAS CL E G H38451333Chromosome 19, ringCN036553ORPHA0456407190070
HP:0003002HP:0003002Breast carcinoma1MLH1 CL E G H4292587Al Gazali Sabrinathan Nair syndromeORPHA012037127120436
HP:0003002HP:0003002Breast carcinoma1MSH2 CL E G H4436587Al Gazali Sabrinathan Nair syndromeORPHA012647325609309
HP:0003002HP:0003002Breast carcinoma1MSH6 CL E G H2956587Al Gazali Sabrinathan Nair syndromeORPHA06027329600678
HP:0003002HP:0003002Breast carcinoma1PALB2 CL E G H797281333Chromosome 19, ringCN036553ORPHA041726144610355
HP:0003002HP:0003002Breast carcinoma1PALLD CL E G H230221333Chromosome 19, ringCN036553ORPHA0417068608092
HP:0003002HP:0003002Breast carcinoma1POLD1 CL E G H5424447877ORPHA0329175174761
HP:0003002HP:0003002Breast carcinoma1POLE CL E G H5426447877ORPHA0759177174762
HP:0003002HP:0003002Breast carcinoma1RNF43 CL E G H54894157798ORPHA01218505612482
HP:0003002HP:0003002Breast carcinoma1SMAD4 CL E G H40891333Chromosome 19, ringCN036553ORPHA01476770600993
HP:0003002HP:0003002Breast carcinoma1STK11 CL E G H67942869Hypertrophic osteoarthropathy, primary or idiopathicORPHA046611389602216
HP:0003002HP:0003002Breast carcinoma1TP53 CL E G H71571333Chromosome 19, ringCN036553ORPHA054111998191170
HP:0003002HP:0003002Breast carcinoma1WRN CL E G H7486902Blepharo naso facial syndrome Van maldergem typeORPHA011512791604611


Genes (51) :AAGAB AKT1 APC ATR BARD1 BRCA1 BRCA2 BRIP1 CDH1 CDKN2A CHEK2 COL14A1 CTNNB1 ESR1 FGFR2 IDH1 IDH2 KLLN KRAS MDM2 MLH1 MRE11 MSH2 MSH6 NBN NTHL1 OPCML PALB2 PALLD PIK3CA POLD1 POLE PPM1D PRKN PTEN RAD50 RAD51 RAD51C RAD51D RB1CC1 RNF43 SDHB SDHC SDHD SEC23B SLC22A18 SMAD4 STK11 TP53 TWIST1 WRN

Diseases (28) :79501 201 615109 114480 167000 79665 247806 614564 145 1333 617883 524 609265 101400 163634 587 158320 454840 616415 615108 447877 158350 157798 616858 2869 175200 151623 902
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is June 2019 release.