Human Phenotype Ontology 
Grandparent Node:
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Neoplasm (HP:0002664)help
Parent Node:
expand
Abnormal breast morphology (HP:0031093)help
Parent Node:
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Neoplasm by anatomical site (HP:0011793)help
..Starting node
..expand
Neoplasm of the breast (HP:0100013)help
Term ID: 100013
Name: Neoplasm of the breast
Synonym: Breast tumor; Breast tumour; Neoplasia of the breast; Tumours of the breast
Definition: A tumor (abnormal growth of tissue) of the breast.
Comments:
Reference: HP:0100013
Genes and Diseases:
 
       Child Nodes:
........expandBreast carcinoma (HP:0003002) help
................... HP:0006625 Multifocal breast carcinoma
........expandFibroadenoma of the breast (HP:0010619) help
........expandDuctal carcinoma in situ (HP:0030075) help
........expandLobular carcinoma in situ (HP:0030076) help

 Sister Nodes: 
..expandHematological neoplasm (HP:0004377) help
..expandMalignant mesothelioma (HP:0100001) help
..expandNeoplasm of fatty tissue (HP:0200013) help
..expandNeoplasm of head and neck (HP:0012288) help
..expandNeoplasm of striated muscle (HP:0009728) help
..expandNeoplasm of the ear (HP:0012780) help
..expandNeoplasm of the endocrine system (HP:0100568) help
..expandNeoplasm of the eye (HP:0100012) help
..expandNeoplasm of the gastrointestinal tract (HP:0007378) help
..expandNeoplasm of the genitourinary tract (HP:0007379) help
..expandNeoplasm of the heart (HP:0100544) help
..expandNeoplasm of the lip (HP:0100604) help
..expandNeoplasm of the nail (HP:0100826) help
..expandNeoplasm of the nervous system (HP:0004375) help
..expandNeoplasm of the oral cavity (HP:0100649) help
..expandNeoplasm of the pancreas (HP:0002894) help
..expandNeoplasm of the respiratory system (HP:0100606) help
..expandNeoplasm of the skeletal system (HP:0010622) help
..expandNeoplasm of the skin (HP:0008069) help
..expandNeoplasm of the thymus (HP:0100521) help
..expandRetroperitoneal chemodectomas (HP:0006729) help
..expandSoft tissue neoplasm (HP:0031459) help
..expandVascular neoplasm (HP:0100742) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0100013HP:0100013Neoplasm of the breast0AAGAB CL E G H7971925662ORPHA:79501Punctate palmoplantar keratoderma type 17
HP:0100013HP:0100013Neoplasm of the breast0ACD CL E G H6505725070ORPHA:618Familial melanomaHP:0040283 - Occasional11
HP:0100013HP:0100013Neoplasm of the breast0AKT1 CL E G H207391OMIM:114480Breast cancer54
HP:0100013HP:0100013Neoplasm of the breast0AKT1 CL E G H207391ORPHA:201Cowden syndrome54
HP:0100013HP:0100013Neoplasm of the breast0AKT1 CL E G H207391OMIM:615109Cowden syndrome 654
HP:0100013HP:0100013Neoplasm of the breast0AKT1 CL E G H207391OMIM:167000Ovarian cancer54
HP:0100013HP:0100013Neoplasm of the breast0APC CL E G H324583OMIM:175100Adenomatous polyposis coli3179
HP:0100013HP:0100013Neoplasm of the breast0APC CL E G H324583ORPHA:247806APC-related attenuated familial adenomatous polyposis3179
HP:0100013HP:0100013Neoplasm of the breast0APC CL E G H324583OMIM:135290Desmoid disease, hereditary3179
HP:0100013HP:0100013Neoplasm of the breast0APC CL E G H324583ORPHA:79665Gardner syndrome3179
HP:0100013HP:0100013Neoplasm of the breast0ATM CL E G H472795OMIM:114480Breast cancer3267
HP:0100013HP:0100013Neoplasm of the breast0ATR CL E G H545882OMIM:614564Cutaneous telangiectasia and cancer syndrome, familial168
HP:0100013HP:0100013Neoplasm of the breast0AXIN2 CL E G H8313904OMIM:608615OLIGODONTIA-COLORECTAL CANCER SYNDROME; ODCRCS435
HP:0100013HP:0100013Neoplasm of the breast0BAP1 CL E G H8314950ORPHA:618Familial melanomaHP:0040283 - Occasional184
HP:0100013HP:0100013Neoplasm of the breast0BARD1 CL E G H580952OMIM:114480Breast cancer790
HP:0100013HP:0100013Neoplasm of the breast0BARD1 CL E G H580952ORPHA:145Hereditary breast and ovarian cancer syndrome790
HP:0100013HP:0100013Neoplasm of the breast0BLM CL E G H6411058ORPHA:125Bloom syndromeHP:0040283 - Occasional314
HP:0100013HP:0100013Neoplasm of the breast0BRCA1 CL E G H6721100OMIM:114480Breast cancer5769
HP:0100013HP:0100013Neoplasm of the breast0BRCA1 CL E G H6721100OMIM:604370Breast-Ovarian cancer, familial, susceptibility to, 15769
HP:0100013HP:0100013Neoplasm of the breast0BRCA1 CL E G H6721100ORPHA:1333Familial pancreatic carcinoma5769
HP:0100013HP:0100013Neoplasm of the breast0BRCA1 CL E G H6721100OMIM:617883Fanconi anemia, complementation group S5769
HP:0100013HP:0100013Neoplasm of the breast0BRCA1 CL E G H6721100ORPHA:145Hereditary breast and ovarian cancer syndrome5769
HP:0100013HP:0100013Neoplasm of the breast0BRCA2 CL E G H6751101OMIM:114480Breast cancer7642
HP:0100013HP:0100013Neoplasm of the breast0BRCA2 CL E G H6751101OMIM:612555Breast-Ovarian cancer, familial, susceptibility to, 27642
HP:0100013HP:0100013Neoplasm of the breast0BRCA2 CL E G H6751101ORPHA:1333Familial pancreatic carcinoma7642
HP:0100013HP:0100013Neoplasm of the breast0BRCA2 CL E G H6751101ORPHA:145Hereditary breast and ovarian cancer syndrome7642
HP:0100013HP:0100013Neoplasm of the breast0BRIP1 CL E G H8399020473OMIM:114480Breast cancer1086
HP:0100013HP:0100013Neoplasm of the breast0BRIP1 CL E G H8399020473ORPHA:145Hereditary breast and ovarian cancer syndrome1086
HP:0100013HP:0100013Neoplasm of the breast0CASP10 CL E G H8431500ORPHA:3261Autoimmune lymphoproliferative syndrome87
HP:0100013HP:0100013Neoplasm of the breast0CASP8 CL E G H8411509OMIM:114480Breast cancer37
HP:0100013HP:0100013Neoplasm of the breast0CDH1 CL E G H9991748OMIM:114480Breast cancer1003
HP:0100013HP:0100013Neoplasm of the breast0CDH1 CL E G H9991748OMIM:167000Ovarian cancer1003
HP:0100013HP:0100013Neoplasm of the breast0CDK4 CL E G H10191773ORPHA:618Familial melanomaHP:0040283 - Occasional145
HP:0100013HP:0100013Neoplasm of the breast0CDKN2A CL E G H10291787ORPHA:618Familial melanomaHP:0040283 - Occasional289
HP:0100013HP:0100013Neoplasm of the breast0CDKN2A CL E G H10291787ORPHA:1333Familial pancreatic carcinoma289
HP:0100013HP:0100013Neoplasm of the breast0CDKN2A CL E G H10291787ORPHA:524Li-Fraumeni syndrome289
HP:0100013HP:0100013Neoplasm of the breast0CDKN2B CL E G H10301788ORPHA:618Familial melanomaHP:0040283 - Occasional1
HP:0100013HP:0100013Neoplasm of the breast0CHEK2 CL E G H1120016627OMIM:114480Breast cancer833
HP:0100013HP:0100013Neoplasm of the breast0CHEK2 CL E G H1120016627ORPHA:145Hereditary breast and ovarian cancer syndrome833
HP:0100013HP:0100013Neoplasm of the breast0CHEK2 CL E G H1120016627ORPHA:524Li-Fraumeni syndrome833
HP:0100013HP:0100013Neoplasm of the breast0CHEK2 CL E G H1120016627OMIM:609265LI-FRAUMENI SYNDROME 2; LFS2833
HP:0100013HP:0100013Neoplasm of the breast0COL14A1 CL E G H73732191ORPHA:79501Punctate palmoplantar keratoderma type 12
HP:0100013HP:0100013Neoplasm of the breast0CTNNB1 CL E G H14992514OMIM:167000Ovarian cancer88
HP:0100013HP:0100013Neoplasm of the breast0ERBB2 CL E G H20643430OMIM:167000Ovarian cancer77
HP:0100013HP:0100013Neoplasm of the breast0ESR1 CL E G H20993467OMIM:114480Breast cancer13
HP:0100013HP:0100013Neoplasm of the breast0FAS CL E G H35511920ORPHA:3261Autoimmune lymphoproliferative syndrome59
HP:0100013HP:0100013Neoplasm of the breast0FASLG CL E G H35611936ORPHA:3261Autoimmune lymphoproliferative syndrome37
HP:0100013HP:0100013Neoplasm of the breast0FGFR2 CL E G H22633689OMIM:101400Saethre-Chotzen syndrome175
HP:0100013HP:0100013Neoplasm of the breast0GNAS CL E G H27784392ORPHA:562McCune-Albright syndrome101
HP:0100013HP:0100013Neoplasm of the breast0HMMR CL E G H31615012OMIM:114480Breast cancer
HP:0100013HP:0100013Neoplasm of the breast0IDH1 CL E G H34175382ORPHA:163634Maffucci syndrome15
HP:0100013HP:0100013Neoplasm of the breast0IDH2 CL E G H34185383ORPHA:163634Maffucci syndrome29
HP:0100013HP:0100013Neoplasm of the breast0KLLN CL E G H10014474837212ORPHA:201Cowden syndrome1
HP:0100013HP:0100013Neoplasm of the breast0KLLN CL E G H10014474837212OMIM:615107Cowden syndrome 41
HP:0100013HP:0100013Neoplasm of the breast0KRAS CL E G H38456407OMIM:114480Breast cancer196
HP:0100013HP:0100013Neoplasm of the breast0KRAS CL E G H38456407ORPHA:1333Familial pancreatic carcinoma196
HP:0100013HP:0100013Neoplasm of the breast0LMNA CL E G H40006636ORPHA:79474Atypical Werner syndromeHP:0040282 - Frequent645
HP:0100013HP:0100013Neoplasm of the breast0MBD4 CL E G H89306919OMIM:6199751
HP:0100013HP:0100013Neoplasm of the breast0MC1R CL E G H41576929ORPHA:618Familial melanomaHP:0040283 - Occasional124
HP:0100013HP:0100013Neoplasm of the breast0MDM2 CL E G H41936973ORPHA:524Li-Fraumeni syndrome1
HP:0100013HP:0100013Neoplasm of the breast0MEFV CL E G H42106998ORPHA:3243Sweet syndrome281
HP:0100013HP:0100013Neoplasm of the breast0MGMT CL E G H42557059ORPHA:618Familial melanomaHP:0040283 - Occasional3
HP:0100013HP:0100013Neoplasm of the breast0MITF CL E G H42867105ORPHA:618Familial melanomaHP:0040283 - Occasional91
HP:0100013HP:0100013Neoplasm of the breast0MLH1 CL E G H42927127ORPHA:587Muir-Torre syndrome1819
HP:0100013HP:0100013Neoplasm of the breast0MLH1 CL E G H42927127OMIM:158320Muir-Torre syndrome1819
HP:0100013HP:0100013Neoplasm of the breast0MRE11 CL E G H43617230ORPHA:145Hereditary breast and ovarian cancer syndrome532
HP:0100013HP:0100013Neoplasm of the breast0MSH2 CL E G H44367325OMIM:158320Muir-Torre syndrome2162
HP:0100013HP:0100013Neoplasm of the breast0MSH2 CL E G H44367325ORPHA:587Muir-Torre syndrome2162
HP:0100013HP:0100013Neoplasm of the breast0MSH6 CL E G H29567329ORPHA:587Muir-Torre syndrome2232
HP:0100013HP:0100013Neoplasm of the breast0NBN CL E G H46837652ORPHA:145Hereditary breast and ovarian cancer syndrome706
HP:0100013HP:0100013Neoplasm of the breast0NF1 CL E G H47637765ORPHA:9768517q11 microdeletion syndrome1952
HP:0100013HP:0100013Neoplasm of the breast0NQO2 CL E G H48357856OMIM:114480Breast cancer
HP:0100013HP:0100013Neoplasm of the breast0NTHL1 CL E G H49138028OMIM:616415Familial adenomatous polyposis 32
HP:0100013HP:0100013Neoplasm of the breast0NTHL1 CL E G H49138028ORPHA:454840NTHL1-related attenuated familial adenomatous polyposis2
HP:0100013HP:0100013Neoplasm of the breast0OPCML CL E G H49788143OMIM:167000Ovarian cancer5
HP:0100013HP:0100013Neoplasm of the breast0PALB2 CL E G H7972826144OMIM:114480Breast cancer1349
HP:0100013HP:0100013Neoplasm of the breast0PALB2 CL E G H7972826144ORPHA:1333Familial pancreatic carcinoma1349
HP:0100013HP:0100013Neoplasm of the breast0PALB2 CL E G H7972826144ORPHA:145Hereditary breast and ovarian cancer syndrome1349
HP:0100013HP:0100013Neoplasm of the breast0PALLD CL E G H2302217068ORPHA:1333Familial pancreatic carcinoma192
HP:0100013HP:0100013Neoplasm of the breast0PDE11A CL E G H509408773ORPHA:1359Carney complex13
HP:0100013HP:0100013Neoplasm of the breast0PDE11A CL E G H509408773ORPHA:189439Primary pigmented nodular adrenocortical disease13
HP:0100013HP:0100013Neoplasm of the breast0PDE8B CL E G H86228794ORPHA:189439Primary pigmented nodular adrenocortical disease75
HP:0100013HP:0100013Neoplasm of the breast0PHB1 CL E G H52458912OMIM:114480Breast cancer
HP:0100013HP:0100013Neoplasm of the breast0PIK3CA CL E G H52908975OMIM:114480Breast cancer162
HP:0100013HP:0100013Neoplasm of the breast0PIK3CA CL E G H52908975ORPHA:201Cowden syndrome162
HP:0100013HP:0100013Neoplasm of the breast0PIK3CA CL E G H52908975OMIM:615108Cowden syndrome 5162
HP:0100013HP:0100013Neoplasm of the breast0PIK3CA CL E G H52908975OMIM:167000Ovarian cancer162
HP:0100013HP:0100013Neoplasm of the breast0POLD1 CL E G H54249175ORPHA:447877Polymerase proofreading-related adenomatous polyposis731
HP:0100013HP:0100013Neoplasm of the breast0POLE CL E G H54269177ORPHA:447877Polymerase proofreading-related adenomatous polyposis1129
HP:0100013HP:0100013Neoplasm of the breast0POT1 CL E G H2591317284ORPHA:618Familial melanomaHP:0040283 - Occasional23
HP:0100013HP:0100013Neoplasm of the breast0PPM1D CL E G H84939277OMIM:114480Breast cancer22
HP:0100013HP:0100013Neoplasm of the breast0PRKACA CL E G H55669380ORPHA:189439Primary pigmented nodular adrenocortical disease2
HP:0100013HP:0100013Neoplasm of the breast0PRKAR1A CL E G H55739388ORPHA:1359Carney complex134
HP:0100013HP:0100013Neoplasm of the breast0PRKAR1A CL E G H55739388ORPHA:189439Primary pigmented nodular adrenocortical disease134
HP:0100013HP:0100013Neoplasm of the breast0PRKCD CL E G H55809399ORPHA:3261Autoimmune lymphoproliferative syndrome10
HP:0100013HP:0100013Neoplasm of the breast0PRKN CL E G H50718607OMIM:167000Ovarian cancer138
HP:0100013HP:0100013Neoplasm of the breast0PRLR CL E G H56189446OMIM:615554MULTIPLE FIBROADENOMAS OF THE BREAST; MFAB2
HP:0100013HP:0100013Neoplasm of the breast0PTEN CL E G H57289588ORPHA:109Bannayan-Riley-Ruvalcaba syndromeHP:0040281 - Very frequent948
HP:0100013HP:0100013Neoplasm of the breast0PTEN CL E G H57289588ORPHA:201Cowden syndrome948
HP:0100013HP:0100013Neoplasm of the breast0PTEN CL E G H57289588OMIM:158350Cowden syndrome 1948
HP:0100013HP:0100013Neoplasm of the breast0PTEN CL E G H57289588ORPHA:145Hereditary breast and ovarian cancer syndrome948
HP:0100013HP:0100013Neoplasm of the breast0PTEN CL E G H57289588ORPHA:65285Lhermitte-Duclos disease948
HP:0100013HP:0100013Neoplasm of the breast0PTEN CL E G H57289588ORPHA:137608Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndromeHP:0040283 - Occasional948
HP:0100013HP:0100013Neoplasm of the breast0RABL3 CL E G H28528218072ORPHA:1333Familial pancreatic carcinoma
HP:0100013HP:0100013Neoplasm of the breast0RAD50 CL E G H101119816ORPHA:145Hereditary breast and ovarian cancer syndrome789
HP:0100013HP:0100013Neoplasm of the breast0RAD51 CL E G H58889817OMIM:114480Breast cancer9
HP:0100013HP:0100013Neoplasm of the breast0RAD51 CL E G H58889817ORPHA:145Hereditary breast and ovarian cancer syndrome9
HP:0100013HP:0100013Neoplasm of the breast0RAD51C CL E G H58899820OMIM:613399BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 3; BROVCA3391
HP:0100013HP:0100013Neoplasm of the breast0RAD51C CL E G H58899820ORPHA:145Hereditary breast and ovarian cancer syndrome391
HP:0100013HP:0100013Neoplasm of the breast0RAD51D CL E G H58929823ORPHA:145Hereditary breast and ovarian cancer syndrome345
HP:0100013HP:0100013Neoplasm of the breast0RAD54L CL E G H84389826OMIM:114480Breast cancer5
HP:0100013HP:0100013Neoplasm of the breast0RASGRP1 CL E G H101259878ORPHA:3261Autoimmune lymphoproliferative syndrome
HP:0100013HP:0100013Neoplasm of the breast0RB1CC1 CL E G H982115574OMIM:114480Breast cancer2
HP:0100013HP:0100013Neoplasm of the breast0RELA CL E G H59709955ORPHA:251636EpendymomaHP:0040284 - Very rare1
HP:0100013HP:0100013Neoplasm of the breast0RNF43 CL E G H5489418505ORPHA:157798Serrated polyposis syndrome5
HP:0100013HP:0100013Neoplasm of the breast0SDHB CL E G H639010681ORPHA:201Cowden syndrome237
HP:0100013HP:0100013Neoplasm of the breast0SDHC CL E G H639110682ORPHA:201Cowden syndrome147
HP:0100013HP:0100013Neoplasm of the breast0SDHD CL E G H639210683ORPHA:201Cowden syndrome129
HP:0100013HP:0100013Neoplasm of the breast0SEC23B CL E G H1048310702ORPHA:201Cowden syndrome60
HP:0100013HP:0100013Neoplasm of the breast0SEC23B CL E G H1048310702OMIM:616858Cowden syndrome 760
HP:0100013HP:0100013Neoplasm of the breast0SLC22A18 CL E G H500210964OMIM:114480Breast cancer3
HP:0100013HP:0100013Neoplasm of the breast0SLC6A17 CL E G H38866231399ORPHA:457212Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome12
HP:0100013HP:0100013Neoplasm of the breast0SMAD4 CL E G H40896770ORPHA:1333Familial pancreatic carcinoma504
HP:0100013HP:0100013Neoplasm of the breast0STK11 CL E G H679411389OMIM:175200Peutz-Jeghers syndrome740
HP:0100013HP:0100013Neoplasm of the breast0STK11 CL E G H679411389ORPHA:2869Peutz-Jeghers syndrome740
HP:0100013HP:0100013Neoplasm of the breast0TERF2IP CL E G H5438619246ORPHA:618Familial melanomaHP:0040283 - Occasional
HP:0100013HP:0100013Neoplasm of the breast0TERT CL E G H701511730ORPHA:618Familial melanomaHP:0040283 - Occasional238
HP:0100013HP:0100013Neoplasm of the breast0TP53 CL E G H715711998OMIM:114480Breast cancer911
HP:0100013HP:0100013Neoplasm of the breast0TP53 CL E G H715711998ORPHA:1333Familial pancreatic carcinoma911
HP:0100013HP:0100013Neoplasm of the breast0TP53 CL E G H715711998ORPHA:145Hereditary breast and ovarian cancer syndrome911
HP:0100013HP:0100013Neoplasm of the breast0TP53 CL E G H715711998OMIM:151623Li-Fraumeni syndrome911
HP:0100013HP:0100013Neoplasm of the breast0TP53 CL E G H715711998ORPHA:524Li-Fraumeni syndrome911
HP:0100013HP:0100013Neoplasm of the breast0TWIST1 CL E G H729112428OMIM:101400Saethre-Chotzen syndrome18
HP:0100013HP:0100013Neoplasm of the breast0USF3 CL E G H20571730494ORPHA:201Cowden syndrome1
HP:0100013HP:0100013Neoplasm of the breast0WRN CL E G H748612791ORPHA:902Werner syndrome310
HP:0100013HP:0100013Neoplasm of the breast0XRCC3 CL E G H751712830OMIM:114480Breast cancer2
HP:0100013HP:0100013Neoplasm of the breast0ZFTA CL E G H6599828449ORPHA:251636EpendymomaHP:0040284 - Very rare
HP:0100013HP:0030076Lobular carcinoma in situ1 CL E G H
HP:0100013HP:0003002Breast carcinoma1AAGAB CL E G H7971925662ORPHA:79501Punctate palmoplantar keratoderma type 1HP:0040283 - Occasional7
HP:0100013HP:0003002Breast carcinoma1AKT1 CL E G H207391OMIM:114480Breast cancer.54
HP:0100013HP:0003002Breast carcinoma1AKT1 CL E G H207391ORPHA:201Cowden syndromeHP:0040281 - Very frequent54
HP:0100013HP:0010619Fibroadenoma of the breast1AKT1 CL E G H207391OMIM:615109Cowden syndrome 6.54
HP:0100013HP:0003002Breast carcinoma1AKT1 CL E G H207391OMIM:615109Cowden syndrome 6.54
HP:0100013HP:0003002Breast carcinoma1AKT1 CL E G H207391OMIM:167000Ovarian cancer.54
HP:0100013HP:0010619Fibroadenoma of the breast1APC CL E G H324583OMIM:175100Adenomatous polyposis coliHP:0040283 - Occasional3179
HP:0100013HP:0003002Breast carcinoma1APC CL E G H324583ORPHA:247806APC-related attenuated familial adenomatous polyposisHP:0040284 - Very rare3179
HP:0100013HP:0010619Fibroadenoma of the breast1APC CL E G H324583ORPHA:247806APC-related attenuated familial adenomatous polyposisHP:0040284 - Very rare3179
HP:0100013HP:0003002Breast carcinoma1APC CL E G H324583OMIM:135290Desmoid disease, hereditary3179
HP:0100013HP:0003002Breast carcinoma1APC CL E G H324583ORPHA:79665Gardner syndromeHP:0040284 - Very rare3179
HP:0100013HP:0003002Breast carcinoma1ATM CL E G H472795OMIM:114480Breast cancer.3267
HP:0100013HP:0003002Breast carcinoma1ATR CL E G H545882OMIM:614564Cutaneous telangiectasia and cancer syndrome, familialHP:0040283 - Occasional168
HP:0100013HP:0003002Breast carcinoma1AXIN2 CL E G H8313904OMIM:608615OLIGODONTIA-COLORECTAL CANCER SYNDROME; ODCRCS435
HP:0100013HP:0003002Breast carcinoma1BARD1 CL E G H580952OMIM:114480Breast cancer.790
HP:0100013HP:0003002Breast carcinoma1BARD1 CL E G H580952ORPHA:145Hereditary breast and ovarian cancer syndromeHP:0040282 - Frequent790
HP:0100013HP:0003002Breast carcinoma1BRCA1 CL E G H6721100OMIM:114480Breast cancer.5769
HP:0100013HP:0003002Breast carcinoma1BRCA1 CL E G H6721100OMIM:604370Breast-Ovarian cancer, familial, susceptibility to, 15769
HP:0100013HP:0003002Breast carcinoma1BRCA1 CL E G H6721100ORPHA:1333Familial pancreatic carcinomaHP:0040283 - Occasional5769
HP:0100013HP:0003002Breast carcinoma1BRCA1 CL E G H6721100OMIM:617883Fanconi anemia, complementation group S.5769
HP:0100013HP:0003002Breast carcinoma1BRCA1 CL E G H6721100ORPHA:145Hereditary breast and ovarian cancer syndromeHP:0040282 - Frequent5769
HP:0100013HP:0003002Breast carcinoma1BRCA2 CL E G H6751101OMIM:114480Breast cancer.7642
HP:0100013HP:0003002Breast carcinoma1BRCA2 CL E G H6751101OMIM:612555Breast-Ovarian cancer, familial, susceptibility to, 2.7642
HP:0100013HP:0003002Breast carcinoma1BRCA2 CL E G H6751101ORPHA:1333Familial pancreatic carcinomaHP:0040283 - Occasional7642
HP:0100013HP:0003002Breast carcinoma1BRCA2 CL E G H6751101ORPHA:145Hereditary breast and ovarian cancer syndromeHP:0040282 - Frequent7642
HP:0100013HP:0003002Breast carcinoma1BRIP1 CL E G H8399020473OMIM:114480Breast cancer.1086
HP:0100013HP:0003002Breast carcinoma1BRIP1 CL E G H8399020473ORPHA:145Hereditary breast and ovarian cancer syndromeHP:0040282 - Frequent1086
HP:0100013HP:0010619Fibroadenoma of the breast1CASP10 CL E G H8431500ORPHA:3261Autoimmune lymphoproliferative syndromeHP:0040284 - Very rare87
HP:0100013HP:0003002Breast carcinoma1CASP8 CL E G H8411509OMIM:114480Breast cancer.37
HP:0100013HP:0003002Breast carcinoma1CDH1 CL E G H9991748OMIM:114480Breast cancer.1003
HP:0100013HP:0003002Breast carcinoma1CDH1 CL E G H9991748OMIM:167000Ovarian cancer.1003
HP:0100013HP:0003002Breast carcinoma1CDKN2A CL E G H10291787ORPHA:1333Familial pancreatic carcinomaHP:0040283 - Occasional289
HP:0100013HP:0003002Breast carcinoma1CDKN2A CL E G H10291787ORPHA:524Li-Fraumeni syndromeHP:0040282 - Frequent289
HP:0100013HP:0003002Breast carcinoma1CHEK2 CL E G H1120016627OMIM:114480Breast cancer.833
HP:0100013HP:0003002Breast carcinoma1CHEK2 CL E G H1120016627ORPHA:145Hereditary breast and ovarian cancer syndromeHP:0040282 - Frequent833
HP:0100013HP:0003002Breast carcinoma1CHEK2 CL E G H1120016627ORPHA:524Li-Fraumeni syndromeHP:0040282 - Frequent833
HP:0100013HP:0003002Breast carcinoma1CHEK2 CL E G H1120016627OMIM:609265LI-FRAUMENI SYNDROME 2; LFS2833
HP:0100013HP:0003002Breast carcinoma1COL14A1 CL E G H73732191ORPHA:79501Punctate palmoplantar keratoderma type 1HP:0040283 - Occasional2
HP:0100013HP:0003002Breast carcinoma1CTNNB1 CL E G H14992514OMIM:167000Ovarian cancer.88
HP:0100013HP:0003002Breast carcinoma1ERBB2 CL E G H20643430OMIM:167000Ovarian cancer.77
HP:0100013HP:0003002Breast carcinoma1ESR1 CL E G H20993467OMIM:114480Breast cancer.13
HP:0100013HP:0010619Fibroadenoma of the breast1FAS CL E G H35511920ORPHA:3261Autoimmune lymphoproliferative syndromeHP:0040284 - Very rare59
HP:0100013HP:0010619Fibroadenoma of the breast1FASLG CL E G H35611936ORPHA:3261Autoimmune lymphoproliferative syndromeHP:0040284 - Very rare37
HP:0100013HP:0003002Breast carcinoma1FGFR2 CL E G H22633689OMIM:101400Saethre-Chotzen syndrome.175
HP:0100013HP:0003002Breast carcinoma1GNAS CL E G H27784392ORPHA:562McCune-Albright syndromeHP:0040284 - Very rare101
HP:0100013HP:0003002Breast carcinoma1HMMR CL E G H31615012OMIM:114480Breast cancer.
HP:0100013HP:0003002Breast carcinoma1IDH1 CL E G H34175382ORPHA:163634Maffucci syndromeHP:0040283 - Occasional15
HP:0100013HP:0003002Breast carcinoma1IDH2 CL E G H34185383ORPHA:163634Maffucci syndromeHP:0040283 - Occasional29
HP:0100013HP:0003002Breast carcinoma1KLLN CL E G H10014474837212ORPHA:201Cowden syndromeHP:0040281 - Very frequent1
HP:0100013HP:0003002Breast carcinoma1KLLN CL E G H10014474837212OMIM:615107Cowden syndrome 41
HP:0100013HP:0003002Breast carcinoma1KRAS CL E G H38456407OMIM:114480Breast cancer.196
HP:0100013HP:0003002Breast carcinoma1KRAS CL E G H38456407ORPHA:1333Familial pancreatic carcinomaHP:0040283 - Occasional196
HP:0100013HP:0030075Ductal carcinoma in situ1MBD4 CL E G H89306919OMIM:6199751
HP:0100013HP:0003002Breast carcinoma1MDM2 CL E G H41936973ORPHA:524Li-Fraumeni syndromeHP:0040282 - Frequent1
HP:0100013HP:0003002Breast carcinoma1MEFV CL E G H42106998ORPHA:3243Sweet syndromeHP:0040284 - Very rare281
HP:0100013HP:0003002Breast carcinoma1MLH1 CL E G H42927127OMIM:158320Muir-Torre syndrome.1819
HP:0100013HP:0003002Breast carcinoma1MLH1 CL E G H42927127ORPHA:587Muir-Torre syndromeHP:0040283 - Occasional1819
HP:0100013HP:0003002Breast carcinoma1MRE11 CL E G H43617230ORPHA:145Hereditary breast and ovarian cancer syndromeHP:0040282 - Frequent532
HP:0100013HP:0003002Breast carcinoma1MSH2 CL E G H44367325ORPHA:587Muir-Torre syndromeHP:0040283 - Occasional2162
HP:0100013HP:0003002Breast carcinoma1MSH2 CL E G H44367325OMIM:158320Muir-Torre syndrome.2162
HP:0100013HP:0003002Breast carcinoma1MSH6 CL E G H29567329ORPHA:587Muir-Torre syndromeHP:0040283 - Occasional2232
HP:0100013HP:0003002Breast carcinoma1NBN CL E G H46837652ORPHA:145Hereditary breast and ovarian cancer syndromeHP:0040282 - Frequent706
HP:0100013HP:0003002Breast carcinoma1NF1 CL E G H47637765ORPHA:9768517q11 microdeletion syndromeHP:0040284 - Very rare1952
HP:0100013HP:0003002Breast carcinoma1NQO2 CL E G H48357856OMIM:114480Breast cancer.
HP:0100013HP:0003002Breast carcinoma1NTHL1 CL E G H49138028OMIM:616415Familial adenomatous polyposis 3.2
HP:0100013HP:0003002Breast carcinoma1NTHL1 CL E G H49138028ORPHA:454840NTHL1-related attenuated familial adenomatous polyposisHP:0040282 - Frequent2
HP:0100013HP:0003002Breast carcinoma1OPCML CL E G H49788143OMIM:167000Ovarian cancer.5
HP:0100013HP:0003002Breast carcinoma1PALB2 CL E G H7972826144OMIM:114480Breast cancer.1349
HP:0100013HP:0003002Breast carcinoma1PALB2 CL E G H7972826144ORPHA:1333Familial pancreatic carcinomaHP:0040283 - Occasional1349
HP:0100013HP:0003002Breast carcinoma1PALB2 CL E G H7972826144ORPHA:145Hereditary breast and ovarian cancer syndromeHP:0040282 - Frequent1349
HP:0100013HP:0003002Breast carcinoma1PALLD CL E G H2302217068ORPHA:1333Familial pancreatic carcinomaHP:0040283 - Occasional192
HP:0100013HP:0010619Fibroadenoma of the breast1PDE11A CL E G H509408773ORPHA:1359Carney complexHP:0040283 - Occasional13
HP:0100013HP:0030075Ductal carcinoma in situ1PDE11A CL E G H509408773ORPHA:1359Carney complex13
HP:0100013HP:0010619Fibroadenoma of the breast1PDE11A CL E G H509408773ORPHA:189439Primary pigmented nodular adrenocortical disease13
HP:0100013HP:0010619Fibroadenoma of the breast1PDE8B CL E G H86228794ORPHA:189439Primary pigmented nodular adrenocortical disease75
HP:0100013HP:0003002Breast carcinoma1PHB1 CL E G H52458912OMIM:114480Breast cancer.
HP:0100013HP:0003002Breast carcinoma1PIK3CA CL E G H52908975OMIM:114480Breast cancer.162
HP:0100013HP:0003002Breast carcinoma1PIK3CA CL E G H52908975ORPHA:201Cowden syndromeHP:0040281 - Very frequent162
HP:0100013HP:0003002Breast carcinoma1PIK3CA CL E G H52908975OMIM:615108Cowden syndrome 5.162
HP:0100013HP:0003002Breast carcinoma1PIK3CA CL E G H52908975OMIM:167000Ovarian cancer.162
HP:0100013HP:0003002Breast carcinoma1POLD1 CL E G H54249175ORPHA:447877Polymerase proofreading-related adenomatous polyposisHP:0040283 - Occasional731
HP:0100013HP:0003002Breast carcinoma1POLE CL E G H54269177ORPHA:447877Polymerase proofreading-related adenomatous polyposisHP:0040283 - Occasional1129
HP:0100013HP:0003002Breast carcinoma1PPM1D CL E G H84939277OMIM:114480Breast cancer.22
HP:0100013HP:0010619Fibroadenoma of the breast1PRKACA CL E G H55669380ORPHA:189439Primary pigmented nodular adrenocortical disease2
HP:0100013HP:0030075Ductal carcinoma in situ1PRKAR1A CL E G H55739388ORPHA:1359Carney complex134
HP:0100013HP:0010619Fibroadenoma of the breast1PRKAR1A CL E G H55739388ORPHA:1359Carney complexHP:0040283 - Occasional134
HP:0100013HP:0010619Fibroadenoma of the breast1PRKAR1A CL E G H55739388ORPHA:189439Primary pigmented nodular adrenocortical disease134
HP:0100013HP:0010619Fibroadenoma of the breast1PRKCD CL E G H55809399ORPHA:3261Autoimmune lymphoproliferative syndromeHP:0040284 - Very rare10
HP:0100013HP:0003002Breast carcinoma1PRKN CL E G H50718607OMIM:167000Ovarian cancer.138
HP:0100013HP:0010619Fibroadenoma of the breast1PRLR CL E G H56189446OMIM:615554MULTIPLE FIBROADENOMAS OF THE BREAST; MFAB2
HP:0100013HP:0003002Breast carcinoma1PTEN CL E G H57289588ORPHA:201Cowden syndromeHP:0040281 - Very frequent948
HP:0100013HP:0003002Breast carcinoma1PTEN CL E G H57289588OMIM:158350Cowden syndrome 1.948
HP:0100013HP:0010619Fibroadenoma of the breast1PTEN CL E G H57289588OMIM:158350Cowden syndrome 1.948
HP:0100013HP:0003002Breast carcinoma1PTEN CL E G H57289588ORPHA:145Hereditary breast and ovarian cancer syndromeHP:0040282 - Frequent948
HP:0100013HP:0010619Fibroadenoma of the breast1PTEN CL E G H57289588ORPHA:65285Lhermitte-Duclos diseaseHP:0040282 - Frequent948
HP:0100013HP:0003002Breast carcinoma1RABL3 CL E G H28528218072ORPHA:1333Familial pancreatic carcinomaHP:0040283 - Occasional
HP:0100013HP:0003002Breast carcinoma1RAD50 CL E G H101119816ORPHA:145Hereditary breast and ovarian cancer syndromeHP:0040282 - Frequent789
HP:0100013HP:0003002Breast carcinoma1RAD51 CL E G H58889817OMIM:114480Breast cancer.9
HP:0100013HP:0003002Breast carcinoma1RAD51 CL E G H58889817ORPHA:145Hereditary breast and ovarian cancer syndromeHP:0040282 - Frequent9
HP:0100013HP:0003002Breast carcinoma1RAD51C CL E G H58899820OMIM:613399BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 3; BROVCA3391
HP:0100013HP:0003002Breast carcinoma1RAD51C CL E G H58899820ORPHA:145Hereditary breast and ovarian cancer syndromeHP:0040282 - Frequent391
HP:0100013HP:0003002Breast carcinoma1RAD51D CL E G H58929823ORPHA:145Hereditary breast and ovarian cancer syndromeHP:0040282 - Frequent345
HP:0100013HP:0003002Breast carcinoma1RAD54L CL E G H84389826OMIM:114480Breast cancer.5
HP:0100013HP:0010619Fibroadenoma of the breast1RASGRP1 CL E G H101259878ORPHA:3261Autoimmune lymphoproliferative syndromeHP:0040284 - Very rare
HP:0100013HP:0003002Breast carcinoma1RB1CC1 CL E G H982115574OMIM:114480Breast cancer.2
HP:0100013HP:0003002Breast carcinoma1RNF43 CL E G H5489418505ORPHA:157798Serrated polyposis syndromeHP:0040284 - Very rare5
HP:0100013HP:0003002Breast carcinoma1SDHB CL E G H639010681ORPHA:201Cowden syndromeHP:0040281 - Very frequent237
HP:0100013HP:0003002Breast carcinoma1SDHC CL E G H639110682ORPHA:201Cowden syndromeHP:0040281 - Very frequent147
HP:0100013HP:0003002Breast carcinoma1SDHD CL E G H639210683ORPHA:201Cowden syndromeHP:0040281 - Very frequent129
HP:0100013HP:0003002Breast carcinoma1SEC23B CL E G H1048310702ORPHA:201Cowden syndromeHP:0040281 - Very frequent60
HP:0100013HP:0030075Ductal carcinoma in situ1SEC23B CL E G H1048310702OMIM:616858Cowden syndrome 7.60
HP:0100013HP:0003002Breast carcinoma1SEC23B CL E G H1048310702OMIM:616858Cowden syndrome 7.60
HP:0100013HP:0003002Breast carcinoma1SLC22A18 CL E G H500210964OMIM:114480Breast cancer.3
HP:0100013HP:0003002Breast carcinoma1SLC6A17 CL E G H38866231399ORPHA:457212Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndromeHP:0040283 - Occasional12
HP:0100013HP:0003002Breast carcinoma1SMAD4 CL E G H40896770ORPHA:1333Familial pancreatic carcinomaHP:0040283 - Occasional504
HP:0100013HP:0003002Breast carcinoma1STK11 CL E G H679411389ORPHA:2869Peutz-Jeghers syndromeHP:0040283 - Occasional740
HP:0100013HP:0003002Breast carcinoma1STK11 CL E G H679411389OMIM:175200Peutz-Jeghers syndrome.740
HP:0100013HP:0003002Breast carcinoma1TP53 CL E G H715711998OMIM:114480Breast cancer.911
HP:0100013HP:0003002Breast carcinoma1TP53 CL E G H715711998ORPHA:1333Familial pancreatic carcinomaHP:0040283 - Occasional911
HP:0100013HP:0003002Breast carcinoma1TP53 CL E G H715711998ORPHA:145Hereditary breast and ovarian cancer syndromeHP:0040282 - Frequent911
HP:0100013HP:0003002Breast carcinoma1TP53 CL E G H715711998ORPHA:524Li-Fraumeni syndromeHP:0040282 - Frequent911
HP:0100013HP:0003002Breast carcinoma1TP53 CL E G H715711998OMIM:151623Li-Fraumeni syndrome.911
HP:0100013HP:0003002Breast carcinoma1TWIST1 CL E G H729112428OMIM:101400Saethre-Chotzen syndrome.18
HP:0100013HP:0003002Breast carcinoma1USF3 CL E G H20571730494ORPHA:201Cowden syndromeHP:0040281 - Very frequent1
HP:0100013HP:0003002Breast carcinoma1WRN CL E G H748612791ORPHA:902Werner syndromeHP:0040283 - Occasional310
HP:0100013HP:0003002Breast carcinoma1XRCC3 CL E G H751712830OMIM:114480Breast cancer.2
HP:0100013HP:0006625Multifocal breast carcinoma2 CL E G H


Genes (91) :AAGAB ACD AKT1 APC ATM ATR AXIN2 BAP1 BARD1 BLM BRCA1 BRCA2 BRIP1 CASP10 CASP8 CDH1 CDK4 CDKN2A CDKN2B CHEK2 COL14A1 CTNNB1 ERBB2 ESR1 FAS FASLG FGFR2 GNAS HMMR IDH1 IDH2 KLLN KRAS LMNA MBD4 MC1R MDM2 MEFV MGMT MITF MLH1 MRE11 MSH2 MSH6 NBN NF1 NQO2 NTHL1 OPCML PALB2 PALLD PDE11A PDE8B PHB1 PIK3CA POLD1 POLE POT1 PPM1D PRKACA PRKAR1A PRKCD PRKN PRLR PTEN RABL3 RAD50 RAD51 RAD51C RAD51D RAD54L RASGRP1 RB1CC1 RELA RNF43 SDHB SDHC SDHD SEC23B SLC22A18 SLC6A17 SMAD4 STK11 TERF2IP TERT TP53 TWIST1 USF3 WRN XRCC3 ZFTA

Diseases (51) :ORPHA:79501 ORPHA:618 OMIM:114480 ORPHA:201 OMIM:615109 OMIM:167000 OMIM:175100 ORPHA:247806 OMIM:135290 ORPHA:79665 OMIM:614564 OMIM:608615 ORPHA:145 ORPHA:125 OMIM:604370 ORPHA:1333 OMIM:617883 OMIM:612555 ORPHA:3261 ORPHA:524 OMIM:609265 OMIM:101400 ORPHA:562 ORPHA:163634 OMIM:615107 ORPHA:79474 OMIM:619975 ORPHA:3243 ORPHA:587 OMIM:158320 ORPHA:97685 OMIM:616415 ORPHA:454840 ORPHA:1359 ORPHA:189439 OMIM:615108 ORPHA:447877 OMIM:615554 ORPHA:109 OMIM:158350 ORPHA:65285 ORPHA:137608 OMIM:613399 ORPHA:251636 ORPHA:157798 OMIM:616858 ORPHA:457212 OMIM:175200 ORPHA:2869 OMIM:151623 ORPHA:902
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.